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+107300_AD/AR:Thrombophilia 7 due to antithrombin III deficiency	OMIM2024Q4	SERPINC1
+107680_.:Amyloidosis, hereditary systemic 3##AR:Hypoalphalipoproteinemia, primary, 2##AD:Hypoalphalipoproteinemia, primary, 2, intermediate	OMIM2024Q4	APOA1
+107910_.:Aromatase deficiency##AD:Aromatase excess syndrome	OMIM2024Q4	CYP19A1
+108746_AR:Cutis laxa, autosomal recessive, type IIC	OMIM2024Q4	ATP6V1E1
+111800_.:[Blood group, Stoltzfus system]	OMIM2024Q4	SF
+114090_AR:Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	OMIM2024Q4	CAST
+114170_AR:Pulmonary hypertension, primary, 6	OMIM2024Q4	CAPNS1
+114240_AD:Muscular dystrophy, limb-girdle, autosomal dominant 4##AR:Muscular dystrophy, limb-girdle, autosomal recessive 1	OMIM2024Q4	CAPN3
+114580_AD:Candidiasis, familial, 1, autosomal dominant	OMIM2024Q4	CANDF1
+114761_AR:Hyperammonemia due to carbonic anhydrase VA deficiency	OMIM2024Q4	CA5A
+115650_AD:Cataract 32, multiple types	OMIM2024Q4	CTAA1
+115660_AD:Cataract 7	OMIM2024Q4	CCA1
+116896_AD:Global developmental delay with or without impaired intellectual development	OMIM2024Q4	CUX1
+118190_AR:Leukodystrophy, hypomyelinating, 4##AD:Spastic paraplegia 13, autosomal dominant	OMIM2024Q4	HSPD1
+118503_AR:Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT##.:{Lung cancer susceptibility 2}	OMIM2024Q4	CHRNA3
+120150_AD:Caffey disease##AD:Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1##AD:Ehlers-Danlos syndrome, arthrochalasia type, 1##AD:Osteogenesis imperfecta, type I##AD:Osteogenesis imperfecta, type II##AD:Osteogenesis imperfecta, type III##AD:Osteogenesis imperfecta, type IV##AD:{Bone mineral density variation QTL, osteoporosis}	OMIM2024Q4	COL1A1
+120220_AD:Bethlem myopathy 1A##AD/AR:Ullrich congenital muscular dystrophy 1A	OMIM2024Q4	COL6A1
+120252_AD:Corneal dystrophy, Fuchs endothelial, 1##AD:Corneal dystrophy, posterior polymorphous 2	OMIM2024Q4	COL8A2
+120260_AR:?Stickler syndrome, type V##AD:Epiphyseal dysplasia, multiple, 2	OMIM2024Q4	COL9A2
+120580_.:C1s deficiency##AD:Ehlers-Danlos syndrome, periodontal type, 2	OMIM2024Q4	C1S
+123155_AD:?Hydrocephalus, autosomal dominant	OMIM2024Q4	HDCPH1
+123590_AD:Cardiomyopathy, dilated, 1II##AD/AR:Cataract 16, multiple types##AD:Myopathy, myofibrillar, 2##AR:Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	OMIM2024Q4	CRYAB
+123730_AD:Cataract 20, multiple types	OMIM2024Q4	CRYGS
+123740_AD:Deafness, autosomal dominant 40	OMIM2024Q4	CRYM
+123830_AR:?Leukodystrophy, hypomyelinating, 20	OMIM2024Q4	CNP
+123889_AR:Inflammatory bowel disease 25, early onset, autosomal recessive##.:{Hepatitis B virus, susceptibility to}	OMIM2024Q4	IL10RB
+124010_AD:Vitamin D-dependent rickets, type 3	OMIM2024Q4	CYP3A4
+124089_AR:Mitochondrial complex IV deficiency, nuclear type 7	OMIM2024Q4	COX6B1
+125240_AR:Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy##AR:[Blood group Cromer]	OMIM2024Q4	CD55
+125264_.:Leukemia, acute nonlymphocytic	OMIM2024Q4	DEK
+126090_AR:Hyperphenylalaninemia, BH4-deficient, D	OMIM2024Q4	PCBD1
+126340_AR:?Cerebrooculofacioskeletal syndrome 2##AR:Trichothiodystrophy 1, photosensitive##AR:Xeroderma pigmentosum, group D	OMIM2024Q4	ERCC2
+126380_AR:Cerebrooculofacioskeletal syndrome 4	OMIM2024Q4	ERCC1
+126800_AD:Duane retraction syndrome 1	OMIM2024Q4	DURS1
+130410_AR:Glutaric acidemia IIB	OMIM2024Q4	ETFB
+131244_AR:?ABCD syndrome##AD/AR:Waardenburg syndrome, type 4A##AD:{Hirschsprung disease, susceptibility to, 2}	OMIM2024Q4	EDNRB
+131399_AR:[Eosinophil peroxidase deficiency]	OMIM2024Q4	EPX
+133440_.:{Autism, susceptibility to, 19}	OMIM2024Q4	EIF4E
+133510_AR:Trichothiodystrophy 2, photosensitive##AR:Xeroderma pigmentosum, group B	OMIM2024Q4	ERCC3
+134850_AR:Afibrinogenemia, congenital##AD:Dysfibrinogenemia, congenital##AD:Hypodysfibrinogenemia##AR:Hypofibrinogenemia, congenital	OMIM2024Q4	FGG
+136533_SMu:Rhabdomyosarcoma, alveolar	OMIM2024Q4	FOXO1
+138210_AR:Neurodevelopmental disorder with microcephaly and spastic paraplegia	OMIM2024Q4	GPT2
+138420_AR:Hypertriglyceridemia, transient infantile	OMIM2024Q4	GPD1
+138470_AR:?Complement factor B deficiency##AD:{Hemolytic uremic syndrome, atypical, susceptibility to, 4}##DD:{Macular degeneration, age-related, 14, reduced risk of}	OMIM2024Q4	CFB
+139130_AR:Night blindness, congenital stationary, type 1H##Mu:{Hypertension, essential, susceptibility to}	OMIM2024Q4	GNB3
+139320_.:ACTH-independent macronodular adrenal hyperplasia 1, somatic##.:McCune-Albright syndrome, somatic, mosaic##AD:Osseous heteroplasia, progressive##.:Pituitary adenoma 3, multiple types, somatic##AD:Pseudohypoparathyroidism Ia##AD:Pseudohypoparathyroidism Ib##AD:Pseudohypoparathyroidism Ic##AD:Pseudopseudohypoparathyroidism	OMIM2024Q4	GNAS
+139380_AD:Intellectual developmental disorder, autosomal dominant 42##.:Leukemia, acute lymphoblastic, somatic##.:Myelodysplastic syndrome, somatic	OMIM2024Q4	GNB1
+139396_AR:Moyamoya 6 with achalasia	OMIM2024Q4	GUCY1A1
+141800_AD:Erythrocytosis, familial, 7##AD:Heinz body anemias, alpha-##.:Hemoglobin H disease, nondeletional##AD:Methemoglobinemia, alpha type##.:Thalassemias, alpha-	OMIM2024Q4	HBA1
+142370_AD:Autoinflammation with pulmonary and cutaneous vasculitis	OMIM2024Q4	HCK
+142620_AR:Spastic paraplegia 86, autosomal recessive	OMIM2024Q4	ABHD16A
+142622_AR:Dystonia 2, torsion, autosomal recessive	OMIM2024Q4	HPCA
+142830_.:{Abacavir hypersensitivity, susceptibility to}##.:{Drug-induced liver injury due to flucloxacillin}##Mu:{Spondyloarthropathy, susceptibility to, 1}##.:{Stevens-Johnson syndrome, susceptibility to}##.:{Synovitis, chronic, susceptibility to}##.:{Toxic epidermal necrolysis, susceptibility to}	OMIM2024Q4	HLA-B
+142994_AD:Currarino syndrome	OMIM2024Q4	MNX1
+146770_AR:Agammaglobulinemia 2	OMIM2024Q4	IGLL1
+146929_.:{AIDS, slow progression to}	OMIM2024Q4	CXCR1
+147200_AR:Kappa light chain deficiency	OMIM2024Q4	IGKC
+147470_AD:Silver-Russell syndrome 3	OMIM2024Q4	IGF2
+147575_.:Gastric cancer, somatic##AR:Immunodeficiency 117, mycobacteriosis, autosomal recessive##.:Nonsmall cell lung cancer, somatic	OMIM2024Q4	IRF1
+147582_AR:Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	OMIM2024Q4	IREB2
+147660_.:Interferon, alpha, deficiency	OMIM2024Q4	IFNA1
+148069_AD:Pachyonychia congenita 2##AD:Steatocystoma multiplex	OMIM2024Q4	KRT17
+150340_AD:Leukodystrophy, adult-onset, autosomal dominant##AD:Microcephaly 26, primary, autosomal dominant	OMIM2024Q4	LMNB1
+150370_AD:Asplenia, isolated congenital	OMIM2024Q4	RPSA
+151460_AR:Immunodeficiency 105, severe combined	OMIM2024Q4	PTPRC
+152427_AD:Long QT syndrome 2##.:Short QT syndrome 1	OMIM2024Q4	KCNH2
+154275_AD:{Malignant hyperthermia susceptibility 2}	OMIM2024Q4	MHS2
+155540_.:{Obesity, severe, susceptibility to, BMIQ9}	OMIM2024Q4	MC3R
+155900_AD:?Melkersson-Rosenthal syndrome	OMIM2024Q4	MROS
+157655_AR:Mitochondrial complex I deficiency, nuclear type 5	OMIM2024Q4	NDUFS1
+159970_AR:Congenital myopathy 17	OMIM2024Q4	MYOD1
+159990_AR:Ophthalmoplegia, external, with rib and vertebral anomalies	OMIM2024Q4	MYF5
+160745_AD:Aortic aneurysm, familial thoracic 4##AR:Megacystis-microcolon-intestinal hypoperistalsis syndrome 2##AD:Visceral myopathy 2	OMIM2024Q4	MYH11
+161550_.:{Nasopharyngeal carcinoma, susceptibility to, 2}	OMIM2024Q4	NPCA2
+161561_AR:Immunodeficiency 29, mycobacteriosis	OMIM2024Q4	IL12B
+162643_AD:Myelokathexis, isolated##AD:WHIM syndrome 1	OMIM2024Q4	CXCR4
+163730_.:{Malaria, resistance to}	OMIM2024Q4	NOS2
+164010_AR:Pontocerebellar hypoplasia, type 8	OMIM2024Q4	CHMP1A
+164100_AD:Nystagmus 2, congenital, autosomal dominant	OMIM2024Q4	NYS2
+164730_.:Breast cancer, somatic##.:Colorectal cancer, somatic##.:Cowden syndrome 6##.:Ovarian cancer, somatic##.:Proteus syndrome, somatic	OMIM2024Q4	AKT1
+164731_AD:Diabetes mellitus, type II##AD:Hypoinsulinemic hypoglycemia with hemihypertrophy	OMIM2024Q4	AKT2
+164757_.:Adenocarcinoma of lung, somatic##AD:Cardiofaciocutaneous syndrome##.:Colorectal cancer, somatic##AD:LEOPARD syndrome 3##.:Melanoma, malignant, somatic##.:Nonsmall cell lung cancer, somatic##AD:Noonan syndrome 7	OMIM2024Q4	BRAF
+164761_AD:Medullary thyroid carcinoma##AD:Multiple endocrine neoplasia IIA##AD:Multiple endocrine neoplasia IIB##AD:Pheochromocytoma##AD:{Hirschsprung disease, protection against}##AD:{Hirschsprung disease, susceptibility to, 1}	OMIM2024Q4	RET
+164785_AR:?Lessel-Kubisch syndrome##AD:{Accelerated tumor formation, susceptibility to}	OMIM2024Q4	MDM2
+164790_.:?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic##.:Colorectal cancer, somatic##.:Epidermal nevus, somatic##.:Melanocytic nevus syndrome, congenital, somatic##.:Neurocutaneous melanosis, somatic##AD:Noonan syndrome 6##.:Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic##.:Thyroid carcinoma, follicular, somatic	OMIM2024Q4	NRAS
+164910_AR:Immunodeficiency 92	OMIM2024Q4	REL
+164950_AR:Deafness, congenital with inner ear agenesis, microtia, and microdontia	OMIM2024Q4	FGF3
+165060_AR:Thyroid hormone metabolism, abnormal, 3	OMIM2024Q4	TRU-TCA1-1
+167409_AD:Glomerulosclerosis, focal segmental, 7##AD:Papillorenal syndrome	OMIM2024Q4	PAX2
+170280_.:Aplastic anemia##AR:Hemophagocytic lymphohistiocytosis, familial, 2##.:Lymphoma, non-Hodgkin	OMIM2024Q4	PRF1
+170710_AD/AR:{Amyotrophic lateral sclerosis, susceptibility to}	OMIM2024Q4	PRPH
+171860_.:Hemolytic anemia due to phosphofructokinase deficiency	OMIM2024Q4	PFKL
+172471_AR:Glycogen storage disease IXc	OMIM2024Q4	PHKG2
+172480_AR:Phosphoserine phosphatase deficiency	OMIM2024Q4	PSPH
+173325_AD:?Arrhythmogenic right ventricular dysplasia 12##AR:Naxos disease	OMIM2024Q4	JUP
+173335_AR:Arterial calcification, generalized, of infancy, 1##AD:Cole disease##AR:Hypophosphatemic rickets, autosomal recessive, 2##AD:{Diabetes mellitus, non-insulin-dependent, susceptibility to}##AD/AR/Mu:{Obesity, susceptibility to}	OMIM2024Q4	ENPP1
+173350_AD:Angioedema, hereditary, 4##AR:Dysplasminogenemia##AR:Plasminogen deficiency, type I	OMIM2024Q4	PLG
+173470_AD:Bleeding disorder, platelet-type, 24, autosomal dominant##AR:Glanzmann thrombasthenia 2##.:Purpura, posttransfusion##.:Thrombocytopenia, neonatal alloimmune##.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	ITGB3
+176635_AR:Primordial dwarfism-immunodeficiency-lipodystrophy syndrome	OMIM2024Q4	PRIM1
+176730_AD:Diabetes mellitus, insulin-dependent, 2##AD/AR:Diabetes mellitus, permanent neonatal 4##AD:Hyperproinsulinemia##AD:Maturity-onset diabetes of the young, type 10	OMIM2024Q4	INS
+176761_AD/AR:Hyperprolactinemia##AD:Multiple fibroadenomas of the breast	OMIM2024Q4	PRLR
+176892_AD/SMo:Cardioacrofacial dysplasia 2	OMIM2024Q4	PRKACB
+176977_AR:Autoimmune lymphoproliferative syndrome, type III	OMIM2024Q4	PRKCD
+176980_AD:Spinocerebellar ataxia 14	OMIM2024Q4	PRKCG
+179616_AR:Combined cellular and humoral immune defects with granulomas##AR:Omenn syndrome##AR:Severe combined immunodeficiency, B cell-negative	OMIM2024Q4	RAG2
+180410_AD/AR:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6	OMIM2024Q4	RRM1
+181460_AD:{Schistosoma mansoni infection, susceptibility/resistance to}	OMIM2024Q4	SM1
+182125_?AD/AR:Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	OMIM2024Q4	SPR
+182280_AD:Small-cell cancer of lung##.:Small cell cancer of the lung, somatic	OMIM2024Q4	SCLC1
+182309_AR:?Fanconi renotubular syndrome 2##AR:Hypercalcemia, infantile, 2##AD:Nephrolithiasis/osteoporosis, hypophosphatemic, 1	OMIM2024Q4	SLC34A1
+182381_AD/AR:Renal glucosuria	OMIM2024Q4	SLC5A2
+182530_AD:Fibromatosis, gingival, 1##AD:Noonan syndrome 4	OMIM2024Q4	SOS1
+182870_AD/AR:Anemia, neonatal hemolytic, fatal or near-fatal##AD/AR:Elliptocytosis-3##AD:Spherocytosis, type 2	OMIM2024Q4	SPTB
+182888_AR:Oocyte/zygote/embryo maturation arrest 6	OMIM2024Q4	ZP2
+184429_AD:Microphthalmia, syndromic 3##AD:Optic nerve hypoplasia and abnormalities of the central nervous system	OMIM2024Q4	SOX2
+186780_AR:?Immunodeficiency 25	OMIM2024Q4	CD247
+187260_AD:Telangiectasia, hereditary benign	OMIM2024Q4	TELAB1
+188061_AD:?Ehlers-Danlos syndrome, classic-like, 3##.:{Lumbar disc herniation, susceptibility to}	OMIM2024Q4	THBS2
+188345_AR:Neurodegeneration, childhood-onset, with progressive microcephaly	OMIM2024Q4	DTYMK
+189967_AD:Sveinsson chorioretinal atrophy	OMIM2024Q4	TEAD1
+190000_AR:Atransferrinemia	OMIM2024Q4	TF
+190090_AD:?Thrombocytopenia 6##.:Colon cancer, advanced, somatic	OMIM2024Q4	SRC
+190197_AR:Epilepsy, early-onset, 5, with or without developmental delay	OMIM2024Q4	CNTN2
+190370_AR:?Uncombable hair syndrome 3	OMIM2024Q4	TCHH
+107280_.:Alpha-1-antichymotrypsin deficiency##.:Cerebrovascular disease, occlusive	OMIM2024Q4	SERPINA3
+107310_AR:Lichtenstein-Knorr syndrome	OMIM2024Q4	SLC9A1
+107773_AD:46XX sex reversal 5##AD:Congenital heart defects, multiple types, 4	OMIM2024Q4	NR2F2
+107930_AR:Aromatic L-amino acid decarboxylase deficiency	OMIM2024Q4	DDC
+108740_AD:Acrokeratosis verruciformis##AD:Darier disease	OMIM2024Q4	ATP2A2
+109560_.:Leukemia/lymphoma, B-cell, 3	OMIM2024Q4	BCL3
+109750_AD/AR:Hyperbiliverdinemia	OMIM2024Q4	BLVRA
+111680_.:[Blood group, RH system]##IC:{Hemolytic disease of fetus and newborn, RH-induced}	OMIM2024Q4	RHD
+113530_AR:Hypervalinemia and hyperleucine-isoleucinemia	OMIM2024Q4	BCAT2
+114204_AR:Developmental and epileptic encephalopathy 110	OMIM2024Q4	CACNA2D1
+114208_AD/AR:Congenital myopathy 18 due to dihydropyridine receptor defect##AD:Hypokalemic periodic paralysis, type 1##AD:{Malignant hyperthermia susceptibility 5}##AD:{Thyrotoxic periodic paralysis, susceptibility to, 1}	OMIM2024Q4	CACNA1S
+116840_AR:Ceroid lipofuscinosis, neuronal, 10	OMIM2024Q4	CTSD
+117100_IC:Centrotemporal epilepsy	OMIM2024Q4	ECT
+118470_AD:Hyperalphalipoproteinemia##AD:[High density lipoprotein cholesterol level QTL 10]	OMIM2024Q4	CETP
+118505_.:{Lung cancer susceptibility 2}##.:{Nicotine dependence, susceptibility to}	OMIM2024Q4	CHRNA5
+120120_AR:Epidermolysis bullosa dystrophica inversa##AD:Epidermolysis bullosa dystrophica, Bart type##AD:Epidermolysis bullosa dystrophica, autosomal dominant##AR:Epidermolysis bullosa dystrophica, autosomal recessive##AR:Epidermolysis bullosa dystrophica, localisata variant##AD/AR:Epidermolysis bullosa pruriginosa##AD/AR:Epidermolysis bullosa, pretibial##AD:Nail disorder, nonsyndromic congenital, 8##AD/AR:Transient bullous of the newborn	OMIM2024Q4	COL7A1
+120131_AR:Alport syndrome 2, autosomal recessive##AD:Hematuria, familial benign, 1	OMIM2024Q4	COL4A4
+120320_AR:?Ullrich congenital muscular dystrophy 2##AD:Bethlem myopathy 2	OMIM2024Q4	COL12A1
+120650_AR:?Immunodeficiency, common variable, 7##.:{Systemic lupus erythematosus, susceptibility to, 9}	OMIM2024Q4	CR2
+120810_AR:C4a deficiency##.:[Blood group, Rodgers]	OMIM2024Q4	C4A
+120950_AR:C8 deficiency, type I	OMIM2024Q4	C8A
+123690_AD:Cataract 4, multiple types	OMIM2024Q4	CRYGD
+123810_.:Histiocytoma, angiomatoid fibrous, somatic	OMIM2024Q4	CREB1
+123980_AR:Mitochondrial complex III deficiency, nuclear type 6	OMIM2024Q4	CYC1
+124080_.:Aldosterone to renin ratio raised##AR:Hypoaldosteronism, congenital, due to CMO I deficiency##AR:Hypoaldosteronism, congenital, due to CMO II deficiency##.:{Low renin hypertension, susceptibility to}	OMIM2024Q4	CYP11B2
+125660_AD:Cardiomyopathy, dilated, 1I##AD/AR:Myopathy, myofibrillar, 1##AD:Scapuloperoneal syndrome, neurogenic, Kaeser type	OMIM2024Q4	DES
+125860_.:{Benzene toxicity, susceptibility to}##.:{Breast cancer, poor survival after chemotherapy for}##.:{Leukemia, post-chemotherapy, susceptibility to}	OMIM2024Q4	NQO1
+126063_AD:Pheochromocytoma/paraganglioma syndrome 7	OMIM2024Q4	DLST
+126064_AR:Miller syndrome	OMIM2024Q4	DHODH
+126391_AR:Immunodeficiency 96	OMIM2024Q4	LIG1
+126452_.:Autonomic nervous system dysfunction##AD:{Attention deficit-hyperactivity disorder}	OMIM2024Q4	DRD4
+191040_AD:Cardiomyopathy, dilated, 1Z##AD:Cardiomyopathy, hypertrophic, 13	OMIM2024Q4	TNNC1
+191041_AR:Nemaline myopathy 5A, autosomal recessive, severe infantile##AR:Nemaline myopathy 5B, autosomal recessive, childhood-onset##AD:Nemaline myopathy 5C, autosomal dominant	OMIM2024Q4	TNNT1
+191130_AD:Cortical dysplasia, complex, with other brain malformations 6##AD:Symmetric circumferential skin creases, congenital, 1	OMIM2024Q4	TUBB
+191181_.:Cervical carcinoma	OMIM2024Q4	ST3
+191195_.:Lung cancer, somatic	OMIM2024Q4	MAP3K8
+192130_AD:Developmental and epileptic encephalopathy 104##AR:Neurodevelopmental disorder with epilepsy and brain atrophy	OMIM2024Q4	ATP6V0A1
+193007_AD:Vestibulopathy, familial	OMIM2024Q4	BPPV
+195000_AR:Oocyte/zygote/embryo maturation arrest 1	OMIM2024Q4	ZP1
+209850_IC/Mu:{Autism susceptibility 1}	OMIM2024Q4	AUTS1
+130660_AR:Arterial tortuosity-bone fragility syndrome##AD:Neuronopathy, distal hereditary motor, autosomal dominant 10	OMIM2024Q4	EMILIN1
+131195_AD:Telangiectasia, hereditary hemorrhagic, type 1	OMIM2024Q4	ENG
+131243_AD:Mandibulofacial dysostosis with alopecia##AD:{Migraine, resistance to}	OMIM2024Q4	EDNRA
+131320_AD:Hypoparathyroidism, sensorineural deafness, and renal dysplasia	OMIM2024Q4	GATA3
+133170_AR:?Diamond-Blackfan anemia-like##AD:Erythrocytosis, familial, 5##.:{Microvascular complications of diabetes 2}	OMIM2024Q4	EPO
+133450_.:Ewing sarcoma##.:Neuroepithelioma	OMIM2024Q4	EWSR1
+133530_AR:Cerebrooculofacioskeletal syndrome 3##AR:Xeroderma pigmentosum, group G##AR:Xeroderma pigmentosum, group G/Cockayne syndrome	OMIM2024Q4	ERCC5
+134629_AD:Porokeratosis 9, multiple types	OMIM2024Q4	FDPS
+134790_AD:Hyperferritinemia-cataract syndrome##AD/AR:L-ferritin deficiency, dominant and recessive##AD:Neurodegeneration with brain iron accumulation 3	OMIM2024Q4	FTL
+134830_AR:Afibrinogenemia, congenital##AD:Dysfibrinogenemia, congenital##AR:Hypofibrinogenemia, congenital	OMIM2024Q4	FGB
+136132_AR:Trimethylaminuria	OMIM2024Q4	FMO3
+136350_.:Encephalocraniocutaneous lipomatosis, somatic mosaic##AD:Hartsfield syndrome##AD:Hypogonadotropic hypogonadism 2 with or without anosmia##AD:Jackson-Weiss syndrome##AD:Osteoglophonic dysplasia##AD:Pfeiffer syndrome##AD:Trigonocephaly 1	OMIM2024Q4	FGFR1
+136440_AR:Erythrokeratodermia variabilis et progressiva 4	OMIM2024Q4	KDSR
+136836_.:[Fucosyltransferase 6 deficiency]	OMIM2024Q4	FUT6
+137060_AR:Combined low LDL and fibrinogen##AR:Congenital disorder of glycosylation, type IId	OMIM2024Q4	B4GALT1
+137142_AD:Developmental and epileptic encephalopathy 79	OMIM2024Q4	GABRA5
+137192_AD:Developmental and epileptic encephalopathy 43##.:{Epilepsy, childhood absence, susceptibility to, 5}	OMIM2024Q4	GABRB3
+138150_AR:Developmental and epileptic encephalopathy 82	OMIM2024Q4	GOT2
+138250_AD:Cutis laxa, autosomal dominant 3##AR:Cutis laxa, autosomal recessive, type IIIA##AD:Spastic paraplegia 9A, autosomal dominant##AR:Spastic paraplegia 9B, autosomal recessive	OMIM2024Q4	ALDH18A1
+138252_AD:Developmental and epileptic encephalopathy 27##AD:Intellectual developmental disorder, autosomal dominant 6, with or without seizures	OMIM2024Q4	GRIN2B
+138295_AR:Leukodystrophy, hypomyelinating, 15	OMIM2024Q4	EPRS1
+138300_AR:Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient	OMIM2024Q4	GSR
+138971_AD:?Neutrophilia, hereditary##AR:Neutropenia, severe congenital, 7, autosomal recessive	OMIM2024Q4	CSF3R
+139312_AD:Dystonia 25	OMIM2024Q4	GNAL
+142000_.:Thalassemia due to Hb Lepore##.:Thalassemia, delta-	OMIM2024Q4	HBD
+142360_AD:Thrombophilia 10 due to heparin cofactor II deficiency	OMIM2024Q4	SERPIND1
+142445_.:{?Schizophrenia, susceptibility to}	OMIM2024Q4	NRG1
+142840_.:{HIV-1 viremia, susceptibility to}##Mu:{Psoriasis susceptibility 1}	OMIM2024Q4	HLA-C
+142959_AD:?Guttmacher syndrome##AD:Hand-foot-genital syndrome	OMIM2024Q4	HOXA13
+142968_AR:Facial paresis, hereditary congenital, 3	OMIM2024Q4	HOXB1
+143054_AD:Intellectual developmental disorder, autosomal dominant 43	OMIM2024Q4	HIVEP2
+144110_AD:Hyperhidrosis palmaris et plantaris	OMIM2024Q4	HHPP
+145505_.:{?Hypertension, essential}	OMIM2024Q4	ACSM3
+146738_AD:Cryptorchidism	OMIM2024Q4	INSL3
+146933_AR:Inflammatory bowel disease 28, early onset, autosomal recessive	OMIM2024Q4	IL10RA
+147267_AD:Charcot-Marie-Tooth disease, demyelinating, type 1J##AR:{Diabetes, type 1, susceptibility to}	OMIM2024Q4	ITPR3
+147460_.:{Microvascular complications of diabetes 6}	OMIM2024Q4	SOD2
+147545_AD:{Type 2 diabetes mellitus, susceptibility to}	OMIM2024Q4	IRS1
+147569_AR:Immunodeficiency 28, mycobacteriosis	OMIM2024Q4	IFNGR2
+147720_.:{Gastric cancer risk after H. pylori infection}	OMIM2024Q4	IL1B
+147840_.:{Malaria, cerebral, susceptibility to}	OMIM2024Q4	ICAM1
+148760_AD:Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development	OMIM2024Q4	KIF11
+151410_.:Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic##.:Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic	OMIM2024Q4	BCR
+151443_AR:Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	OMIM2024Q4	LIFR
+151750_AR:Lipodystrophy, familial partial, type 6	OMIM2024Q4	LIPE
+152445_AD:Vohwinkel syndrome with ichthyosis	OMIM2024Q4	LORICRIN
+153880_AD:Macular dystrophy, dominant cystoid	OMIM2024Q4	CYMD
+154100_AR:Developmental and epileptic encephalopathy 51	OMIM2024Q4	MDH2
+154200_AR:?Developmental and epileptic encephalopathy 88	OMIM2024Q4	MDH1
+155600_.:Melanoma, malignant, somatic##AD:{Melanoma, cutaneous malignant, 1}##.:Melanoma, malignant, somatic	OMIM2024Q4	CMM
+156560_AR:?Trichothiodystrophy 9, nonphotosensitive##AD:Charcot-Marie-Tooth disease, axonal, type 2U##AR:Interstitial lung and liver disease##AR:Spastic paraplegia 70, autosomal recessive	OMIM2024Q4	MARS1
+156845_AR:COMMAD syndrome##AD:Tietz albinism-deafness syndrome##AD:Waardenburg syndrome, type 2A##.:{Melanoma, cutaneous malignant, susceptibility to, 8}	OMIM2024Q4	MITF
+157700_AD:Mitral valve prolapse, myxomatous 1	OMIM2024Q4	MMVP1
+159440_AD:Charcot-Marie-Tooth disease, dominant intermediate D##AD:Charcot-Marie-Tooth disease, type 1B##AD:Charcot-Marie-Tooth disease, type 2I##AD:Charcot-Marie-Tooth disease, type 2J##AD/AR:Dejerine-Sottas disease##AD:Hypomyelinating neuropathy, congenital, 2##AD:Roussy-Levy syndrome	OMIM2024Q4	MPZ
+160000_AD:Myopathy, sarcoplasmic body	OMIM2024Q4	MB
+160710_AD:?Atrial septal defect 3##.:Atrial septal defect 3##AD:Cardiomyopathy, dilated, 1EE##AD:Cardiomyopathy, hypertrophic, 14##.:{Sick sinus syndrome 3}	OMIM2024Q4	MYH6
+160740_AD/AR:Congenital myopathy 6 with ophthalmoplegia	OMIM2024Q4	MYH2
+160998_AD/SMu:{?Breast cancer susceptibility}	OMIM2024Q4	NQO2
+161650_AR:Arthrogryposis multiplex congenita 6##AR:Nemaline myopathy 2, autosomal recessive	OMIM2024Q4	NEB
+162332_AR:Hypogonadotropic hypogonadism 11 with or without anosmia	OMIM2024Q4	TACR3
+164012_AD:Immunodeficiency, common variable, 10	OMIM2024Q4	NFKB2
+164017_AD:?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3##AD:?Myopathy, distal, 3##AD:Amyotrophic lateral sclerosis 20	OMIM2024Q4	HNRNPA1
+164050_AR:Immunodeficiency due to purine nucleoside phosphorylase deficiency	OMIM2024Q4	PNP
+164760_AD:Cardiomyopathy, dilated, 1NN##AD:LEOPARD syndrome 2##AD:Noonan syndrome 5	OMIM2024Q4	RAF1
+164840_AD:Feingold syndrome 1##AD:Megalencephaly-polydactyly syndrome	OMIM2024Q4	MYCN
+164874_AD:Rett syndrome, congenital variant	OMIM2024Q4	FOXG1
+165190_AR:Trichomegaly	OMIM2024Q4	FGF5
+167414_.:{Leukemia, acute lymphoblastic, susceptibility to, 3}	OMIM2024Q4	PAX5
+168461_AD/SMu:{Colorectal cancer, susceptibility to}##SMu:{Multiple myeloma, susceptibility to}##AD:{von Hippel-Lindau syndrome, modifier of}	OMIM2024Q4	CCND1
+170290_AD:Lipodystrophy, familial partial, type 4	OMIM2024Q4	PLIN1
+171833_AR:?Agammaglobulinemia 7, autosomal recessive##AD:Immunodeficiency 36##AD:SHORT syndrome	OMIM2024Q4	PIK3R1
+172400_AR:Anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient	OMIM2024Q4	GPI
+107269_.:[Blood group, Indian system]	OMIM2024Q4	CD44
+107320_AD:?Antiphospholipid syndrome, familial	OMIM2024Q4	ATPLS
+107776_.:[Aquaporin-1 deficiency]##.:[Blood group, Colton]	OMIM2024Q4	AQP1
+108731_AD:Intellectual developmental disorder, autosomal dominant 66	OMIM2024Q4	ATP2B1
+108733_AD:Deafness, autosomal dominant 82##AR:{Deafness, autosomal recessive 12, modifier of}	OMIM2024Q4	ATP2B2
+109480_.:[Blood group, OK]	OMIM2024Q4	BSG
+110600_.:[Blood group, Dombrock]	OMIM2024Q4	ART4
+111100_.:[Blood group, Lewis]	OMIM2024Q4	FUT3
+111700_AR:Rh-null disease, amorph type	OMIM2024Q4	RHCE
+112205_AR:Agammaglobulinemia 3	OMIM2024Q4	CD79A
+113703_AD:Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	OMIM2024Q4	RPL13
+113705_AR:Fanconi anemia, complementation group S##AD/Mu:{Breast-ovarian cancer, familial, 1}##.:{Pancreatic cancer, susceptibility to, 4}	OMIM2024Q4	BRCA1
+113810_AR:Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency##AR:Neuropathy, hereditary sensory and autonomic, type VI	OMIM2024Q4	DST
+114020_AR:?Attention deficit-hyperactivity disorder 8##AD:Agenesis of corpus callosum, cardiac, ocular, and genital syndrome##AD:Arrhythmogenic right ventricular dysplasia 14	OMIM2024Q4	CDH2
+114025_AR:Cortical dysplasia, complex, with other brain malformations 9	OMIM2024Q4	CTNNA2
+114131_AD:{Osteoporosis, postmenopausal, susceptibility}	OMIM2024Q4	CALCR
+114180_AD:Long QT syndrome 14##AD:Ventricular tachycardia, catecholaminergic polymorphic, 4	OMIM2024Q4	CALM1
+115500_.:Acatalasemia	OMIM2024Q4	CAT
+117143_AR:?Microcephaly 13, primary, autosomal recessive	OMIM2024Q4	CENPE
+118491_AR:Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	OMIM2024Q4	CHKA
+118507_.:Epilepsy, nocturnal frontal lobe, 3	OMIM2024Q4	CHRNB2
+120140_AD:?Epiphyseal dysplasia, multiple, with myopia and deafness##AD:?Vitreoretinopathy with phalangeal epiphyseal dysplasia##AD:Achondrogenesis, type II or hypochondrogenesis##AD:Avascular necrosis of the femoral head##AD:Czech dysplasia##AD:Kniest dysplasia##AD:Legg-Calve-Perthes disease##AD:Osteoarthritis with mild chondrodysplasia##AD:Platyspondylic skeletal dysplasia, Torrance type##AD:SED congenita##AD:SMED Strudwick type##AD:Spondyloepiphyseal dysplasia, Stanescu type##AD:Spondyloperipheral dysplasia##AD:Stickler syndrome, type I##AD:Stickler syndrome, type I, nonsyndromic ocular	OMIM2024Q4	COL2A1
+120350_AR:Myasthenic syndrome, congenital, 19	OMIM2024Q4	COL13A1
+120520_AD:?Spinocerebellar ataxia 43##AD/AR:Charcot-Marie-Tooth disease, axonal, type 2T	OMIM2024Q4	MME
+120700_AR:C3 deficiency##AD:{Hemolytic uremic syndrome, atypical, susceptibility to, 5}##.:{Macular degeneration, age-related, 9}	OMIM2024Q4	C3
+121011_AD:Bart-Pumphrey syndrome##AD:Deafness, autosomal dominant 3A##AR/DD:Deafness, autosomal recessive 1A##AD:Hystrix-like ichthyosis with deafness##AD:Keratitis-ichthyosis-deafness syndrome##AD:Keratoderma, palmoplantar, with deafness##AD:Vohwinkel syndrome	OMIM2024Q4	GJB2
+121013_AD:Atrial fibrillation, familial, 11##AD:Atrial standstill, digenic (GJA5/SCN5A)	OMIM2024Q4	GJA5
+121400_AD:Cornea plana 1, autosomal dominant	OMIM2024Q4	CNA1
+122720_AD:Coumarin resistance##AD/SMu:{Lung cancer, resistance to}##.:{Nicotine addiction, protection from}	OMIM2024Q4	CYP2A6
+123101_AD:Craniosynostosis 2##AD:Parietal foramina 1##AD:Parietal foramina with cleidocranial dysplasia	OMIM2024Q4	MSX2
+123580_AD/AR:Cataract 9, multiple types	OMIM2024Q4	CRYAA
+123670_AD:Cataract 39, multiple types, autosomal dominant	OMIM2024Q4	CRYGB
+123833_AD:Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	OMIM2024Q4	CCND2
+123930_.:Efavirenz, poor metabolism of##.:{Efavirenz central nervous system toxicity, susceptibility to}	OMIM2024Q4	CYP2B6
+123940_AD:White sponge nevus 1	OMIM2024Q4	KRT4
+125480_AD:{Major affective disorder 1}	OMIM2024Q4	MAFD1
+125647_AD:Arrhythmogenic right ventricular dysplasia 8##AR:Cardiomyopathy, dilated, with woolly hair and keratoderma##AD:Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis##AR:Epidermolysis bullosa, lethal acantholytic##AD:Keratosis palmoplantaris striata II	OMIM2024Q4	DSP
+126150_.:{Diphtheria, susceptibility to}	OMIM2024Q4	HBEGF
+129190_AR:Calcification of joints and arteries	OMIM2024Q4	NT5E
+251170_AR:Hyper-IgD syndrome##AR:Mevalonic aciduria##AD:Porokeratosis 3, multiple types	OMIM2024Q4	MVK
+257550_AR:Oculomotor apraxia, congenital, Cogan-type	OMIM2024Q4	COMA
+300037_XLR:Simpson-Golabi-Behmel syndrome, type 1##.:Wilms tumor, somatic	OMIM2024Q4	GPC3
+300090_XLR:Congenital disorder of glycosylation, type Iy	OMIM2024Q4	SSR4
+300096_XLR:Intellectual developmental disorder, X-linked 58	OMIM2024Q4	TSPAN7
+176260_AD:Episodic ataxia/myokymia syndrome	OMIM2024Q4	KCNA1
+176941_AR:Immunodeficiency 35	OMIM2024Q4	TYK2
+176946_AD:Cataract 6, multiple types	OMIM2024Q4	EPHA2
+177045_AD:Proteasome-associated autoinflammatory syndrome 6	OMIM2024Q4	PSMB9
+177070_.:Spherocytosis, type 5	OMIM2024Q4	EPB42
+179450_AD:?Ragweed sensitivity	OMIM2024Q4	RWS
+179550_AD:Hiatt-Neu-Cooper neurodevelopmental syndrome	OMIM2024Q4	RALA
+179590_AR:?Breasts and/or nipples, aplasia or hypoplasia of, 2	OMIM2024Q4	PTPRF
+179617_AD:Fanconi anemia, complementation group R##AD:Mirror movements 2##AD/SMu:{Breast cancer, susceptibility to}	OMIM2024Q4	RAD51
+180069_AR:Leber congenital amaurosis 2##AR:Retinitis pigmentosa 20##AD:Retinitis pigmentosa 87 with choroidal involvement	OMIM2024Q4	RPE65
+180202_AR:El Hayek-Chahrour neurodevelopmental syndrome	OMIM2024Q4	KDM5A
+180903_AR:Congenital myopathy 20	OMIM2024Q4	RYR3
+181031_AR:Oguchi disease-1##AR:Retinitis pigmentosa 47, autosomal recessive##AD:Retinitis pigmentosa 96, autosomal dominant	OMIM2024Q4	SAG
+182120_AR:Osteogenesis imperfecta, type XVII	OMIM2024Q4	SPARC
+182380_AR:Glucose/galactose malabsorption	OMIM2024Q4	SLC5A1
+182396_AR:Hypercholanemia, familial 2	OMIM2024Q4	SLC10A1
+184100_AD:Spondyloepiphyseal dysplasia tarda, autosomal dominant	OMIM2024Q4	SPDT
+184600_AR:Peeling skin syndrome 4	OMIM2024Q4	CSTA
+184745_AD:Deafness, autosomal dominant 69, unilateral or asymmetric##AD:Hyperpigmentation with or without hypopigmentation##AR:Waardenburg syndrome, type 2F##.:[Skin/hair/eye pigmentation 7, blond/brown hair]	OMIM2024Q4	KITLG
+185100_.:{Strabismus, susceptibility to, 1}	OMIM2024Q4	STBMS1
+186845_AR:Immunodeficiency, common variable, 6	OMIM2024Q4	CD81
+188540_AR:Hypothyroidism, congenital, nongoitrous 4	OMIM2024Q4	TSHB
+189907_AD:Renal cysts and diabetes syndrome##AD:Type 2 diabetes mellitus##.:{Renal cell carcinoma}	OMIM2024Q4	HNF1B
+190010_AR:Immunodeficiency 46	OMIM2024Q4	TFRC
+190080_.:Burkitt lymphoma, somatic	OMIM2024Q4	MYC
+190151_AR:?Lethal congenital contractural syndrome 2##AR:Visceral neuropathy, familial, 1, autosomal recessive##AD:{?Erythroleukemia, familial, susceptibility to}	OMIM2024Q4	ERBB3
+190450_AR:Hemolytic anemia due to triosephosphate isomerase deficiency	OMIM2024Q4	TPI1
+191044_AR:?Cardiomyopathy, dilated, 2A##.:Cardiomyopathy, dilated, 1FF##AD:Cardiomyopathy, familial restrictive, 1##AD:Cardiomyopathy, hypertrophic, 7	OMIM2024Q4	TNNI3
+131340_AD:Spinocerebellar ataxia 23	OMIM2024Q4	PDYN
+131530_AR:?Hypomagnesemia 4, renal	OMIM2024Q4	EGF
+131550_AD/SMu:Adenocarcinoma of lung, response to tyrosine kinase inhibitor in##AR:Neonatal nephrocutaneous inflammatory syndrome##AD/SMu:Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in##AD/SMu:{Nonsmall cell lung cancer, susceptibility to}	OMIM2024Q4	EGFR
+132100_AD:Photoparoxysmal response 1	OMIM2024Q4	PPR1
+135820_AD:Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses	OMIM2024Q4	FBLN1
+136430_AR:Neurodegeneration due to cerebral folate transport deficiency	OMIM2024Q4	FOLR1
+136530_AR:Hypogonadotropic hypogonadism 24 without anosmia	OMIM2024Q4	FSHB
+137100_AD/AR/IC:Immunoglobulin A deficiency	OMIM2024Q4	IGAD1
+137150_AR:GABA-transaminase deficiency	OMIM2024Q4	ABAT
+137181_.:[Gamma-glutamyltransferase, familial high serum]	OMIM2024Q4	GGT2P
+138079_AD:Diabetes mellitus, noninsulin-dependent, late onset##AR:Diabetes mellitus, permanent neonatal 1##AD:Hyperinsulinemic hypoglycemia, familial, 3##AD:MODY, type II	OMIM2024Q4	GCK
+138292_AR:Myasthenia, congenital, 12, with tubular aggregates	OMIM2024Q4	GFPT1
+138491_AD/AR:Hyperekplexia 1	OMIM2024Q4	GLRA1
+138571_AR:Glycogen storage disease 0, liver	OMIM2024Q4	GYS2
+138890_AR:Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities	OMIM2024Q4	GSC
+139191_AR:Growth hormone deficiency, isolated, type IV	OMIM2024Q4	GHRHR
+139310_AD:Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	OMIM2024Q4	GNAI1
+139340_.:Achromatopsia 4	OMIM2024Q4	GNAT2
+139450_AD:Hair, curly	OMIM2024Q4	HRM2
+140300_AD:{Hashimoto thyroiditis}##AD:Hashimoto thyroiditis	OMIM2024Q4	HT
+142409_AR:Deafness, autosomal recessive 39	OMIM2024Q4	HGF
+142461_AR:Dyssegmental dysplasia, Silverman-Handmaker type##AR:Schwartz-Jampel syndrome, type 1	OMIM2024Q4	HSPG2
+142470_AD:Fetal hemoglobin quantitative trait locus 2	OMIM2024Q4	HBFQTL2
+142700_Mu:Developmental dysplasia of the hip 1	OMIM2024Q4	ACTD
+142857_Mu:{Multiple sclerosis, susceptibility to, 1}##AD:{Sarcoidosis, susceptibility to, 1}	OMIM2024Q4	HLA-DRB1
+142910_AR:Muscular dystrophy, limb-girdle, autosomal recessive 28##.:[Low density lipoprotein cholesterol level QTL 3]##.:[Statins, response to]	OMIM2024Q4	HMGCR
+145260_AD:Pseudohypoaldosteronism, type IIA	OMIM2024Q4	PHA2A
+145701_AD:?Hypertrichosis universalis congenita, Ambras type	OMIM2024Q4	HTC1
+146661_AR:Immunodeficiency 104, severe combined	OMIM2024Q4	IL7R
+146760_.:[IgG receptor I, phagocytic, familial deficiency of]	OMIM2024Q4	FCGR1A
+146790_AD:{Lupus nephritis, susceptibility to}##.:{Malaria, severe, susceptibility to}##AR:{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}	OMIM2024Q4	FCGR2A
+147183_AD:Adams-Oliver syndrome 3	OMIM2024Q4	RBPJ
+147557_AR:Epidermolysis bullosa, junctional 5A, intermediate##AR:Epidermolysis bullosa, junctional 5B, with pyloric atresia	OMIM2024Q4	ITGB4
+147574_AR:Immunodeficiency 65, susceptibility to viral infections	OMIM2024Q4	IRF9
+147730_AR:Immunodeficiency 41 with lymphoproliferation and autoimmunity##.:{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}	OMIM2024Q4	IL2RA
+147880_AR:Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections##.:[Interleukin 6, serum level of, QTL]##.:[Interleukin-6 receptor, soluble, serum level of, QTL]	OMIM2024Q4	IL6R
+147892_AD:Thyroid hormone metabolism, abnormal, 2	OMIM2024Q4	DIO1
+148067_AD:Pachyonychia congenita 1##AD:Palmoplantar keratoderma, nonepidermolytic, focal	OMIM2024Q4	KRT16
+150270_AD:?Laryngeal adductor paralysis	OMIM2024Q4	LAP
+300110_XL:Aland Island eye disease##XLR:Cone-rod dystrophy, X-linked, 3##XL:Night blindness, congenital stationary (incomplete), 2A, X-linked	OMIM2024Q4	CACNA1F
+300142_XLR:Intellectual developmental disorder, X-linked 30	OMIM2024Q4	PAK3
+300188_XLD:Hardikar syndrome##XLR:Lujan-Fryns syndrome##XLR:Ohdo syndrome, X-linked##XLR:Opitz-Kaveggia syndrome	OMIM2024Q4	MED12
+300195_XLR:Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	OMIM2024Q4	AMMECR1
+300196_XL:Hypothyroidism, congenital, nongoitrous, 8	OMIM2024Q4	TBL1X
+300203_XLD:Developmental and epileptic encephalopathy 2	OMIM2024Q4	CDKL5
+300205_XLD:Chondrodysplasia punctata, X-linked dominant##XLR:MEND syndrome	OMIM2024Q4	EBP
+300211_.:Episodic muscle weakness, X-linked	OMIM2024Q4	EMWX
+300255_XLR:Intellectual developmental disorder, X-linked 106	OMIM2024Q4	OGT
+300259_.:{Mycobacterium tuberculosis, susceptibility, X-linked}	OMIM2024Q4	MTBSX
+300278_XLR:Night blindness, congenital stationary (complete), 1A, X-linked	OMIM2024Q4	NYX
+300294_XLR:?Olmsted syndrome, X-linked##XLR:IFAP syndrome with or without BRESHECK syndrome##XLR:Keratosis follicularis spinulosa decalvans, X-linked##XLR:Osteogenesis imperfecta, type XIX	OMIM2024Q4	MBTPS2
+300300_XLR:Agammaglobulinemia, X-linked 1##XLR:Isolated growth hormone deficiency, type III, with agammaglobulinemia	OMIM2024Q4	BTK
+300351_.:{Graves disease, susceptibility to, X-linked}	OMIM2024Q4	GRDX
+300355_XLR:Intellectual developmental disorder, X-linked 73	OMIM2024Q4	MRX73
+300365_XLR:Immunodeficiency 74, COVID19-related, X-linked##XLD:Systemic lupus erythematosus 17	OMIM2024Q4	TLR7
+300382_XLR:Developmental and epileptic encephalopathy 1##XL:Hydranencephaly with abnormal genitalia##XLR:Intellectual developmental disorder, X-linked 29##XL:Lissencephaly, X-linked 2##XLR:Partington syndrome##XL:Proud syndrome	OMIM2024Q4	ARX
+300393_XL:Pituitary adenoma 2, GH-secreting	OMIM2024Q4	GPR101
+300394_XLR:Barth syndrome	OMIM2024Q4	TAFAZZIN
+300427_XL:Intellectual developmental disorder, X-linked##XL:{Autism susceptibility, X-linked 2}	OMIM2024Q4	NLGN4X
+300463_XLR:Renpenning syndrome	OMIM2024Q4	PQBP1
+300464_.:{Coronary heart disease, susceptibility to, 3}	OMIM2024Q4	CHDS3
+300470_XLR:Bartter syndrome, type 5, antenatal, transient	OMIM2024Q4	MAGED2
+300526_XLD:Neurodegeneration with brain iron accumulation 5	OMIM2024Q4	WDR45
+300560_XLR:Intellectual developmental disorder, X-linked syndromic, Siderius type	OMIM2024Q4	PHF8
+300591_.:{Stature QTL 6}	OMIM2024Q4	STQTL6
+300613_.:Myopia 13	OMIM2024Q4	MYP13
+300700_XL:Albinism-deafness syndrome	OMIM2024Q4	ADFN
+300809_.:{Systemic lupus erythematosus, susceptibility to, 15}	OMIM2024Q4	SLEB15
+300821_XLR:Blue cone monochromacy##XL:Colorblindness, deutan	OMIM2024Q4	OPN1MW
+300823_XLR:Mucopolysaccharidosis II	OMIM2024Q4	IDS
+300852_XL:Intellectual developmental disorder, X-linked 88	OMIM2024Q4	MRX88
+300980_XLR:Intellectual developmental disorder, X-linked 103	OMIM2024Q4	KLHL15
+191327_AR:Mitochondrial complex III deficiency, nuclear type 10	OMIM2024Q4	UQCRFS1
+191342_AD:Spastic paraplegia 79A, autosomal dominant##AR:Spastic paraplegia 79B, autosomal recessive##AD:{?Parkinson disease 5, susceptibility to}	OMIM2024Q4	UCHL1
+192150_AR:Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	OMIM2024Q4	VARS1
+193200_AR:{Vitiligo-associated multiple autoimmune disease susceptibility 6}	OMIM2024Q4	VAMAS6
+194355_.:{Major affective disorder-7, susceptibility to}	OMIM2024Q4	XBP1
+212200_AR:Carnosinemia	OMIM2024Q4	CNSN
+152200_AD:[LPA deficiency, congenital]##AD:{Coronary artery disease, susceptibility to}	OMIM2024Q4	LPA
+153622_.:Barrett esophagus/esophageal adenocarcinoma	OMIM2024Q4	MSR1
+154545_AD:{Chronic infections, due to MBL deficiency}	OMIM2024Q4	MBL2
+154550_AR:Congenital disorder of glycosylation, type Ib	OMIM2024Q4	MPI
+156570_AR:Homocystinuria-megaloblastic anemia, cblG complementation type##AR:{Neural tube defects, folate-sensitive, susceptibility to}	OMIM2024Q4	MTR
+156850_AD:Microphthalmia with cataract 1	OMIM2024Q4	MCOPCT1
+159460_AR:Spastic paraplegia 75, autosomal recessive	OMIM2024Q4	MAG
+159555_AD:Wiedemann-Steiner syndrome	OMIM2024Q4	KMT2A
+159595_.:Leukemia, transient, of Down syndrome##.:Leukemia, megakaryoblastic, with or without Down syndrome, somatic	OMIM2024Q4	TAM
+160700_AD:Myopia 2	OMIM2024Q4	MYP2
+160780_AR:Congenital myopathy 14	OMIM2024Q4	MYL1
+160781_AD:Cardiomyopathy, hypertrophic, 10##AR:Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	OMIM2024Q4	MYL2
+162080_.:Retinal degeneration, autosomal recessive, clumped pigment type##AD:Retinitis pigmentosa 27	OMIM2024Q4	NRL
+162280_AD:Charcot-Marie-Tooth disease, dominant intermediate G##AD/AR:Charcot-Marie-Tooth disease, type 1F##AD:Charcot-Marie-Tooth disease, type 2E	OMIM2024Q4	NEFL
+162361_AR:?Hypogonadotropic hypogonadism 27 without anosmia	OMIM2024Q4	NHLH2
+164160_AR:Obesity, morbid, due to leptin deficiency	OMIM2024Q4	LEP
+165080_AD:Lymphatic malformation 14	OMIM2024Q4	ERG
+165390_.:Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic	OMIM2024Q4	RHOA
+167415_AD:Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	OMIM2024Q4	PAX8
+168450_AD/AR:Hypoparathyroidism, familial isolated 1	OMIM2024Q4	PTH
+169615_AR:Blistering, acantholytic, of oral and laryngeal mucosa	OMIM2024Q4	DSG3
+170715_AD:Charcot-Marie-Tooth disease, demyelinating, type 1G	OMIM2024Q4	PMP2
+170993_AR:Peroxisome biogenesis disorder 5A (Zellweger)##AR:Peroxisome biogenesis disorder 5B	OMIM2024Q4	PEX2
+171640_AR:Spondyloenchondrodysplasia with immune dysregulation	OMIM2024Q4	ACP5
+171834_.:Breast cancer, somatic##.:CLAPO syndrome, somatic##.:CLOVE syndrome, somatic##.:Cerebral cavernous malformations 4, somatic##.:Colorectal cancer, somatic##.:Cowden syndrome 5##.:Gastric cancer, somatic##.:Hemifacial myohyperplasia, somatic##.:Hepatocellular carcinoma, somatic##.:Keratosis, seborrheic, somatic##.:Macrodactyly, somatic##.:Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic##.:Nevus, epidermal, somatic##.:Nonsmall cell lung cancer, somatic##.:Ovarian cancer, somatic	OMIM2024Q4	PIK3CA
+171900_AR:Congenital disorder of glycosylation, type It	OMIM2024Q4	PGM1
+172405_.:Cardiomyopathy, dilated, 1P##AD:Cardiomyopathy, hypertrophic, 18	OMIM2024Q4	PLN
+172460_AR:Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia##AR:{Neural tube defects, folate-sensitive, susceptibility to}	OMIM2024Q4	MTHFD1
+172490_AR:Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	OMIM2024Q4	PHKB
+173320_AR:{Encephalopathy, acute, infection-induced, susceptibility to, 12}	OMIM2024Q4	RNH1
+176264_AD:Spinocerebellar ataxia 13	OMIM2024Q4	KCNC3
+102560_AD:Baraitser-Winter syndrome 2##AD:Deafness, autosomal dominant 20/26	OMIM2024Q4	ACTG1
+102579_AR:Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	OMIM2024Q4	RFC1
+102630_AD:Baraitser-Winter syndrome 1##.:Becker nevus, syndromic or isolated, somatic mosaic##.:Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic##AD:Dystonia-deafness syndrome 1##AD:Thrombocytopenia 8, with dysmorphic features and developmental delay	OMIM2024Q4	ACTB
+103072_AR:?Deafness, autosomal recessive 44	OMIM2024Q4	ADCY1
+103850_AR:Glycogen storage disease XII	OMIM2024Q4	ALDOA
+104000_Mu:Alopecia areata 1	OMIM2024Q4	AA1
+104225_AR:Myopia 23, autosomal recessive	OMIM2024Q4	LRPAP1
+105850_.:Amyotrophic lateral sclerosis 9	OMIM2024Q4	ANG
+107200_AD:Anosmia, isolated congenital	OMIM2024Q4	ANIC
+107450_AR:Immunodeficiency 106, susceptibility to viral infections	OMIM2024Q4	IFNAR1
+107470_AR:Immunodeficiency 27A, mycobacteriosis, AR##AD:Immunodeficiency 27B, mycobacteriosis, AD##.:{H. pylori infection, susceptibility to}##.:{Hepatitis B virus infection, susceptibility to}##.:{Tuberculosis infection, protection against}##.:{Tuberculosis, susceptibility to}	OMIM2024Q4	IFNGR1
+107777_AD/AR:Diabetes insipidus, nephrogenic, 2	OMIM2024Q4	AQP2
+108730_AR:Brody myopathy	OMIM2024Q4	ATP2A1
+108780_AD:Atrial fibrillation, familial, 6##AR:Atrial standstill 2	OMIM2024Q4	NPPA
+108962_AR:Boudin-Mortier syndrome	OMIM2024Q4	NPR3
+109091_.:Myelofibrosis, somatic##.:Thrombocythemia, somatic	OMIM2024Q4	CALR
+109270_AD:Cryohydrocytosis##AD:Distal renal tubular acidosis 1##AR:Distal renal tubular acidosis 4 with hemolytic anemia##AD:Ovalocytosis, SA type##AD:Spherocytosis, type 4##.:[Blood group, Diego]##.:[Blood group, Froese]##.:[Blood group, Swann]##.:[Blood group, Waldner]##.:[Blood group, Wright]##.:{Malaria, resistance to}	OMIM2024Q4	SLC4A1
+112261_AD:Brachydactyly, type A2##AD:Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1##AR:{HFE hemochromatosis, modifier of}	OMIM2024Q4	BMP2
+114019_AD:Intellectual developmental disorder, autosomal dominant 3	OMIM2024Q4	CDH15
+114021_AR:Ectodermal dysplasia, ectrodactyly, and macular dystrophy##AR:Hypotrichosis, congenital, with juvenile macular dystrophy	OMIM2024Q4	CDH3
+114350_.:Leukemia, T-cell acute lymphoblastic, somatic##.:Leukemia, acute myeloid, somatic##AR:{Encephalopathy, acute, infection-induced, susceptibility to, 9}	OMIM2024Q4	NUP214
+114840_AD:Maturity-onset diabetes of the young, type VIII	OMIM2024Q4	CEL
+116790_?AD:{Panic disorder, susceptibility to}##AD:{Schizophrenia, susceptibility to}	OMIM2024Q4	COMT
+116810_AD:Keratolytic winter erythema	OMIM2024Q4	CTSB
+118425_AD:Myotonia congenita, dominant##AR:Myotonia congenita, recessive##AD:Myotonia levior	OMIM2024Q4	CLCN1
+118504_AD:Epilepsy, nocturnal frontal lobe, 1##.:{Nicotine addiction, susceptibility to}	OMIM2024Q4	CHRNA4
+120110_AD:Metaphyseal chondrodysplasia, Schmid type	OMIM2024Q4	COL10A1
+120190_AD:Ehlers-Danlos syndrome, classic type, 2	OMIM2024Q4	COL5A2
+120270_AD:Epiphyseal dysplasia, multiple, 3, with or without myopathy##AR:Stickler syndrome, type VI##.:{Intervertebral disc disease, susceptibility to}	OMIM2024Q4	COL9A3
+120360_AR:Multicentric osteolysis, nodulosis, and arthropathy	OMIM2024Q4	MMP2
+120900_AR:C5 deficiency##AD:[Eculizumab, poor response to]	OMIM2024Q4	C5
+121014_AR:Craniometaphyseal dysplasia, autosomal recessive##AD:Erythrokeratodermia variabilis et progressiva 3##AD:Oculodentodigital dysplasia##AR:Oculodentodigital dysplasia, autosomal recessive##AD:Palmoplantar keratoderma with congenital alopecia##AD:Syndactyly, type III	OMIM2024Q4	GJA1
+123829_AD:{Melanoma, cutaneous malignant, 3}	OMIM2024Q4	CDK4
+309620_XL:Intellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy	OMIM2024Q4	MRSD
+312610_XLR:Cone-rod dystrophy, X-linked, 1##XLR:Macular degeneration, X-linked atrophic##XL:Retinitis pigmentosa 3##XL:Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	OMIM2024Q4	RPGR
+312865_PR:Langer mesomelic dysplasia##PD:Leri-Weill dyschondrosteosis##.:Short stature, idiopathic familial	OMIM2024Q4	SHOX
+480000_XLD:46XX sex reversal 1##YL:46XY sex reversal 1	OMIM2024Q4	SRY
+600003_AD:Brugada syndrome 4	OMIM2024Q4	CACNB2
+600016_AR:Congenital myopathy 12	OMIM2024Q4	CNTN1
+600045_AD:White-Kernohan syndrome	OMIM2024Q4	DDB1
+600098_AD:Noonan syndrome 12##.:Ovarian carcinoma	OMIM2024Q4	RRAS2
+600119_AR:Muscular dystrophy, limb-girdle, autosomal recessive 3	OMIM2024Q4	SGCA
+600150_AR:Cerebellar atrophy, developmental delay, and seizures##AD:Liang-Wang syndrome##AD:Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy##AD:{Epilepsy, idiopathic generalized, susceptibility to, 16}	OMIM2024Q4	KCNMA1
+600235_AD:Atrial fibrillation, familial, 13##.:Brugada syndrome 5##.:Cardiac conduction defect, nonspecific##AR:Developmental and epileptic encephalopathy 52##AD:Generalized epilepsy with febrile seizures plus, type 1	OMIM2024Q4	SCN1B
+600281_AD:Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young##AD:MODY, type I##AD:{Diabetes mellitus, noninsulin-dependent}	OMIM2024Q4	HNF4A
+600319_.:{Diabetes mellitus, insulin-dependent, 4}	OMIM2024Q4	IDDM4
+600342_.:Retinitis pigmentosa 44	OMIM2024Q4	RGR
+600364_AD:Cone dystrophy-3##AD:Cone-rod dystrophy 14	OMIM2024Q4	GUCA1A
+176763_AR:Methylmalonic aciduria and homocystinuria, cblC type, digenic	OMIM2024Q4	PRDX1
+176885_AD:{Insulin resistance, susceptibility to}	OMIM2024Q4	PTPN1
+176893_AR:?Bleeding disorder, platelet-type, 19	OMIM2024Q4	PRKACG
+176915_AD:Houge-Janssens syndrome 3	OMIM2024Q4	PPP2CA
+176943_.:?Scaphocephaly, maxillary retrusion, and impaired intellectual development##AD:Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis##AD:Apert syndrome##AD:Beare-Stevenson cutis gyrata syndrome##AD:Bent bone dysplasia syndrome##AD:Craniofacial-skeletal-dermatologic dysplasia##.:Craniosynostosis, nonspecific##AD:Crouzon syndrome##.:Gastric cancer, somatic##AD:Jackson-Weiss syndrome##AD:LADD syndrome 1##AD:Pfeiffer syndrome##AD:Saethre-Chotzen syndrome##.:Scaphocephaly and Axenfeld-Rieger anomaly	OMIM2024Q4	FGFR2
+179755_.:Renal cell carcinoma, papillary	OMIM2024Q4	PRCC
+180090_AR:Bothnia retinal dystrophy##AD/AR:Fundus albipunctatus##.:Newfoundland rod-cone dystrophy##AD/AR:Retinitis punctata albescens	OMIM2024Q4	RLBP1
+180290_AR:?Retinitis pigmentosa 66	OMIM2024Q4	RBP3
+180297_AR:Anemia, hemolytic, Rh-null, regulator type##AD:Overhydrated hereditary stomatocytosis	OMIM2024Q4	RHAG
+180435_AD:Prostate cancer 1	OMIM2024Q4	RNASEL
+180721_AD/AR/DD:Retinitis pigmentosa 7, digenic form	OMIM2024Q4	ROM1
+180901_AD:Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia##AR:Congenital myopathy 1B, autosomal recessive##AD:King-Denborough syndrome##AD:{Malignant hyperthermia susceptibility 1}	OMIM2024Q4	RYR1
+180960_AR:Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	OMIM2024Q4	AHCY
+181590_AR:Microcephaly 7, primary, autosomal recessive	OMIM2024Q4	STIL
+184430_AD:Coffin-Siris syndrome 10	OMIM2024Q4	SOX4
+185490_.:[Superoxide dismutase, elevated extracellular]	OMIM2024Q4	SOD3
+185620_AR:Charcot-Marie-Tooth disease, type 4K##AR:Mitochondrial complex IV deficiency, nuclear type 1	OMIM2024Q4	SURF1
+185880_AR:Myasthenic syndrome, congenital, 25##AD:Spastic ataxia 1, autosomal dominant	OMIM2024Q4	VAMP1
+185881_AD:Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	OMIM2024Q4	VAMP2
+186973_AR:Lymphoproliferative syndrome 1	OMIM2024Q4	ITK
+187040_.:Leukemia, T-cell acute lymphocytic, somatic	OMIM2024Q4	TAL1
+187380_AD:Deafness, autosomal dominant 56	OMIM2024Q4	TNC
+188545_AR:Hypothyroidism, congenital, nongoitrous, 7	OMIM2024Q4	TRHR
+188860_AR:?Leukodystrophy, hypomyelinating, 28	OMIM2024Q4	MAL
+190060_AR:Oocyte/zygote/embryo maturation arrest 20	OMIM2024Q4	MOS
+190181_AD:Loeys-Dietz syndrome 1##AD:{Multiple self-healing squamous epithelioma, susceptibility to}	OMIM2024Q4	TGFBR1
+190315_AR:Combined D-2- and L-2-hydroxyglutaric aciduria##AR:Myasthenic syndrome, congenital, 23, presynaptic	OMIM2024Q4	SLC25A1
+191092_.:?Focal cortical dysplasia, type II, somatic##.:Lymphangioleiomyomatosis, somatic##AD:Tuberous sclerosis-2	OMIM2024Q4	TSC2
+191163_AD:Autoinflammatory syndrome, familial, Behcet-like 1	OMIM2024Q4	TNFAIP3
+191305_AD:Maturity-onset diabetes of the young, type 11	OMIM2024Q4	BLK
+191311_AR:Spondylometaepiphyseal dysplasia, short limb-hand type##AD:Warburg-Cinotti syndrome	OMIM2024Q4	DDR2
+193000_AD:Vesicoureteral reflux 1	OMIM2024Q4	VUR
+248310_AR:{Malaria, intensity of infection}	OMIM2024Q4	PFBI
+275000_AR:{Graves disease, susceptibility to, 1}	OMIM2024Q4	GRD1
+300005_XLR:Encephalopathy, neonatal severe##XLR:Intellectual developmental disorder, X-linked syndromic 13##XLR:Intellectual developmental disorder, X-linked syndromic, Lubs type##XLD:Rett syndrome##XLD:Rett syndrome, atypical##XLD:Rett syndrome, preserved speech variant##XL:{Autism susceptibility, X-linked 3}	OMIM2024Q4	MECP2
+300019_XLR:Methylmalonic aciduria and homocysteinemia, cblX type	OMIM2024Q4	HCFC1
+300028_XLR:Orofaciodigital syndrome XXI	OMIM2024Q4	ZRSR2
+300040_XLD:Cornelia de Lange syndrome 2##XLD:Developmental and epileptic encephalopathy 85, with or without midline brain defects	OMIM2024Q4	SMC1A
+300060_XLR:Galloway-Mowat syndrome 2, X-linked	OMIM2024Q4	LAGE3
+300061_XLR:Intellectual developmental disorder, X-linked 112	OMIM2024Q4	ZMYM3
+123970_AD:Thrombocytopenia 4	OMIM2024Q4	CYCS
+124092_.:{Graft-versus-host disease, protection against}##.:{HIV-1, susceptibility to}##.:{Rheumatoid arthritis, progression of}	OMIM2024Q4	IL10
+125645_AD/AR:Arrhythmogenic right ventricular dysplasia 11##AD/AR:Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair	OMIM2024Q4	DSC2
+126375_AD:Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant##AD:Neuropathy, hereditary sensory, type IE	OMIM2024Q4	DNMT1
+128700_AD:?Preauricular fistulae, congenital	OMIM2024Q4	PAFC
+130500_AD/AR:Elliptocytosis-1	OMIM2024Q4	EPB41
+130610_AD:?Spinocerebellar ataxia 26	OMIM2024Q4	EEF2
+131290_AR:?ENDOVE syndrome, limb-brain type	OMIM2024Q4	EN1
+132811_AD/AR:{Hypercholesterolemia, familial, due to LDLR defect, modifier of}	OMIM2024Q4	EPHX2
+133171_AD:[Erythrocytosis, familial, 1]	OMIM2024Q4	EPOR
+134350_AR:Complement factor D deficiency	OMIM2024Q4	CFD
+134934_AD:Achondroplasia##.:Bladder cancer, somatic##AD/AR:CATSHL syndrome##.:Cervical cancer, somatic##.:Colorectal cancer, somatic##AD:Crouzon syndrome with acanthosis nigricans##AD:Hypochondroplasia##AD:LADD syndrome 2##AD:Muenke syndrome##.:Nevus, epidermal, somatic##AD:SADDAN##.:Spermatocytic seminoma, somatic##AD:Thanatophoric dysplasia, type I##AD:Thanatophoric dysplasia, type II	OMIM2024Q4	FGFR3
+134935_.:{Cancer progression/metastasis}	OMIM2024Q4	FGFR4
+136352_AD:Congenital heart defects, multiple types, 7##.:Hemangioma, capillary infantile, somatic##AD:Lymphatic malformation 1	OMIM2024Q4	FLT4
+136435_AR:Ovarian dysgenesis 1##AD:Ovarian hyperstimulation syndrome	OMIM2024Q4	FSHR
+137035_AD:?Epilepsy, familial temporal lobe, 8	OMIM2024Q4	GAL
+137070_.:Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia##AD:Essential tremor, hereditary, 4	OMIM2024Q4	FUS
+137140_AD:Developmental and epileptic encephalopathy 78##Mu:{Alcohol dependence, susceptibility to}	OMIM2024Q4	GABRA2
+137165_AD:Myoclonic-atonic epilepsy	OMIM2024Q4	SLC6A1
+137190_AD:Developmental and epileptic encephalopathy 45	OMIM2024Q4	GABRB1
+138140_AD:Dystonia 9##AD/AR:GLUT1 deficiency syndrome 1, infantile onset, severe##AD:GLUT1 deficiency syndrome 2, childhood onset##AD:Stomatin-deficient cryohydrocytosis with neurologic defects##AD:{Epilepsy, idiopathic generalized, susceptibility to, 12}	OMIM2024Q4	SLC2A1
+138280_AD:?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development##AR:Developmental and epileptic encephalopathy 71##AR:Global developmental delay, progressive ataxia, and elevated glutamine	OMIM2024Q4	GLS
+138290_AD:Developmental and epileptic encephalopathy 116##AR:Glutamine deficiency, congenital	OMIM2024Q4	GLUL
+138570_AR:Glycogen storage disease 0, muscle	OMIM2024Q4	GYS1
+138850_AR:Hypogonadotropic hypogonadism 7 without anosmia	OMIM2024Q4	GNRHR
+142200_AD:Fetal hemoglobin quantitative trait locus 1	OMIM2024Q4	HBG1
+142335_AD:[Fetal hemoglobin QTL5]	OMIM2024Q4	HPFH2
+142640_AD:Thrombophilia 11 due to HRG deficiency	OMIM2024Q4	HRG
+142800_.:{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}	OMIM2024Q4	HLA-A
+142858_.:{Beryllium disease, chronic, susceptibility to}	OMIM2024Q4	HLA-DPB1
+142984_AD:Charcot-Marie-Tooth disease, foot deformity of##AD:Vertical talus, congenital	OMIM2024Q4	HOXD10
+143450_AR:Mitochondrial trifunctional protein deficiency 2	OMIM2024Q4	HADHB
+600424_AR:?Megaloblastic anemia, folate-responsive##AR:Immunodeficiency 114, folate-responsive	OMIM2024Q4	SLC19A1
+600429_AD:Adult i phenotype without cataract##AR:Cataract 13 with adult i phenotype##AD:[Blood group, Ii]	OMIM2024Q4	GCNT2
+600463_AR:Microphthalmia, isolated 8	OMIM2024Q4	ALDH1A3
+600483_AD:Hypogonadotropic hypogonadism 6 with or without anosmia	OMIM2024Q4	FGF8
+600495_AD:{Parkinson disease 18}	OMIM2024Q4	EIF4G1
+600509_AD:Diabetes mellitus, noninsulin-dependent##AD/AR:Diabetes mellitus, permanent neonatal 3, with or without neurologic features##.:Diabetes mellitus, transient neonatal 2##AD/AR:Hyperinsulinemic hypoglycemia, familial, 1##AD:Hypoglycemia of infancy, leucine-sensitive	OMIM2024Q4	ABCC8
+600532_AR:Mitochondrial complex I deficiency, nuclear type 7	OMIM2024Q4	NDUFV2
+600632_.:Ovarian cancer, somatic	OMIM2024Q4	OPCML
+600682_AD:Erythrocyte lactate transporter defect##AD:Hyperinsulinemic hypoglycemia, familial, 7##AD/AR:Monocarboxylate transporter 1 deficiency	OMIM2024Q4	SLC16A1
+600724_AR:Retinitis pigmentosa 45	OMIM2024Q4	CNGB1
+600725_AD:Holoprosencephaly 3##AD:Microphthalmia/coloboma 5##AD:Single median maxillary central incisor	OMIM2024Q4	SHH
+600726_AR:Acrocapitofemoral dysplasia##AD:Brachydactyly, type A1	OMIM2024Q4	IHH
+600797_AD:{Diabetes mellitus, noninsulin-dependent}	OMIM2024Q4	IRS2
+600811_AR:Xeroderma pigmentosum, group E, DDB-negative subtype	OMIM2024Q4	DDB2
+600827_AR:Cone dystrophy 4	OMIM2024Q4	PDE6C
+600842_.:[Fasting plasma glucose level QTL 5]	OMIM2024Q4	GCKR
+600922_AD:Aortic aneurysm, familial thoracic 7##AR:Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	OMIM2024Q4	MYLK
+600956_AR:Persistent Mullerian duct syndrome, type II	OMIM2024Q4	AMHR2
+600959_AR:Baralle-Macken syndrome	OMIM2024Q4	COPB1
+600970_AD:Deafness, autosomal dominant 22##AD:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy##AR:Deafness, autosomal recessive 37	OMIM2024Q4	MYO6
+601055_AR:Dworschak-Punetha neurodevelopmental syndrome	OMIM2024Q4	PLXNA1
+601090_AD:Anterior segment dysgenesis 3, multiple subtypes##AD:Axenfeld-Rieger syndrome, type 3	OMIM2024Q4	FOXC1
+601101_.:Telangiectasia, hereditary hemorrhagic, type 3	OMIM2024Q4	HHT3
+601119_AR:Perrault syndrome 3	OMIM2024Q4	CLPP
+601143_AD:Neuronopathy, distal hereditary motor, autosomal dominant 14##AD:Perry syndrome##AD/AR:{Amyotrophic lateral sclerosis, susceptibility to}	OMIM2024Q4	DCTN1
+601184_AR:Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	OMIM2024Q4	DNAJC3
+601197_AR:?Retinal dystrophy and obesity	OMIM2024Q4	TUB
+601232_AR:Immunodeficiency 97 with autoinflammation	OMIM2024Q4	PIK3CG
+601239_AD:Left ventricular noncompaction 1, with or without congenital heart defects##AD:Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2	OMIM2024Q4	DTNA
+601284_AD:Telangiectasia, hereditary hemorrhagic, type 2	OMIM2024Q4	ACVRL1
+601363_AD:Wilms tumor, type 4	OMIM2024Q4	WT4
+601366_AD:Congenital heart defects, multiple types, 8, with or without heterotaxy##AD:Loeys-Dietz syndrome 6	OMIM2024Q4	SMAD2
+194090_AD:Wilms tumor, type 3	OMIM2024Q4	WT3
+194648_AR:?Polydactyly, postaxial, type A6	OMIM2024Q4	ZNF141
+211100_AR:[Bombay phenotype]	OMIM2024Q4	FUT1
+227050_AR:Transient erythroblastopenia of childhood	OMIM2024Q4	TEC
+231675_AR:Glutaric acidemia IIC	OMIM2024Q4	ETFDH
+232000_AR:Propionicacidemia	OMIM2024Q4	PCCA
+235000_AD:Hemihypertrophy	OMIM2024Q4	IH
+238300_AR:Glycine encephalopathy1	OMIM2024Q4	GLDC
+238310_AR:Glycine encephalopathy 2	OMIM2024Q4	AMT
+601479_AR:Glomerulosclerosis, focal segmental, 6	OMIM2024Q4	MYO1E
+601499_AD:Rieger syndrome, type 2	OMIM2024Q4	RIEG2
+601527_AR:Frontonasal dysplasia 3	OMIM2024Q4	ALX1
+601528_AD:Lymphatic malformation 4	OMIM2024Q4	VEGFC
+601556_AD:Spinocerebellar ataxia 1	OMIM2024Q4	ATXN1
+601564_AD:{Pancreatitis, chronic, protection against}	OMIM2024Q4	PRSS2
+601574_.:Chondrosarcoma, extraskeletal myxoid	OMIM2024Q4	TAF15
+601594_AD:Developmental delay with variable intellectual disability and dysmorphic facies	OMIM2024Q4	JARID2
+601622_AD:Craniosynostosis 1##AD:Robinow-Sorauf syndrome##AD:Saethre-Chotzen syndrome with or without eyelid anomalies##AD:Sweeney-Cox syndrome	OMIM2024Q4	TWIST1
+601639_AD:Cardioacrofacial dysplasia 1##.:Cushing syndrome, ACTH-independent adrenal, somatic	OMIM2024Q4	PRKACA
+601656_AD:Atrial septal defect 9##AD:Atrioventricular septal defect 5##AD:Pancreatic agenesis and congenital heart defects##.:Persistent truncus arteriosus##AD:Tetralogy of Fallot	OMIM2024Q4	GATA6
+601664_AD:Retinitis pigmentosa 33	OMIM2024Q4	SNRNP200
+601667_AD:?Angioedema, hereditary, 5	OMIM2024Q4	ANGPT1
+601687_AD:Meesmann corneal dystrophy 1	OMIM2024Q4	KRT12
+601690_AR:Platelet-activating factor acetylhydrolase deficiency	OMIM2024Q4	PLA2G7
+601734_AD:Coffin-Siris syndrome 8	OMIM2024Q4	SMARCC2
+601752_AR:Spastic paraplegia 64, autosomal recessive	OMIM2024Q4	ENTPD1
+601788_AR:?Muscle hypertrophy	OMIM2024Q4	MSTN
+601796_AD:Intellectual developmental disorder, autosomal dominant 73	OMIM2024Q4	TAF4
+601819_AD:Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies##AD:{Kaposi sarcoma, susceptibility to}	OMIM2024Q4	BPTF
+601825_AR:Mitochondrial complex I deficiency, nuclear type 3	OMIM2024Q4	NDUFS7
+601865_AR:Bruck syndrome 2	OMIM2024Q4	PLOD2
+601888_.:{Malignant hyperthermia susceptibility 6}	OMIM2024Q4	MHS6
+601891_AR:?Ectodermal dysplasia 15, hypohidrotic/hair type	OMIM2024Q4	CST6
+601902_AR:Meier-Gorlin syndrome 1	OMIM2024Q4	ORC1
+601922_AD:Lymphatic malformation 10	OMIM2024Q4	ANGPT2
+601928_AD:Monilethrix	OMIM2024Q4	KRT86
+601933_AD:{Delayed sleep phase disorder, susceptibility to}	OMIM2024Q4	CRY1
+601949_AD:?Episodic ataxia, type 5##AD:{Epilepsy, idiopathic generalized, susceptibility to, 9}##AD:{Epilepsy, juvenile myoclonic, susceptibility to, 6}	OMIM2024Q4	CACNB4
+602091_AR:?Weill-Marchesani syndrome 3, recessive##.:Glaucoma 3, primary congenital, D##AR:Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	OMIM2024Q4	LTBP2
+602121_AD:Deafness, autosomal dominant 1, with or without thrombocytopenia##AR:Seizures, cortical blindness, microcephaly syndrome	OMIM2024Q4	DIAPH1
+602123_AD:Intellectual developmental disorder, autosomal dominant 59	OMIM2024Q4	CAMK2G
+602167_AR:Deafness, autosomal recessive 35	OMIM2024Q4	ESRRB
+602225_AD:Cone-rod retinal dystrophy-2##.:Leber congenital amaurosis 7	OMIM2024Q4	CRX
+602232_AD:Seizures, benign neonatal, 2	OMIM2024Q4	KCNQ3
+602235_AD:Developmental and epileptic encephalopathy 7##AD:Myokymia##AD:Seizures, benign neonatal, 1	OMIM2024Q4	KCNQ2
+602280_AR:Leber congenital amaurosis 15##AR:Retinitis pigmentosa 14	OMIM2024Q4	TULP1
+602336_AR:?Deafness, autosomal recessive 108	OMIM2024Q4	ROR1
+602337_AD:Brachydactyly, type B1##AR:Robinow syndrome, autosomal recessive	OMIM2024Q4	ROR2
+602368_AR:Spinocerebellar ataxia, autosomal recessive 18	OMIM2024Q4	GRID2
+602375_AR:?Combined oxidative phosphorylation deficiency 45	OMIM2024Q4	MRPL12
+300108_XLD:?Premature ovarian failure 2A	OMIM2024Q4	DIAPH2
+300128_XLD:Kabuki syndrome 2	OMIM2024Q4	KDM6A
+300137_XLR:Hypothyroidism, central, and testicular enlargement	OMIM2024Q4	IGSF1
+300139_XLR:?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia	OMIM2024Q4	IGBP1
+300163_XLR:?Uruguay faciocardiomusculoskeletal syndrome##XLR:Emery-Dreifuss muscular dystrophy 6, X-linked##XLR:Myopathy, X-linked, with postural muscle atrophy##XLD:Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset##XL:Reducing body myopathy, X-linked 1b, with late childhood or adult onset##XLD:Scapuloperoneal myopathy, X-linked dominant	OMIM2024Q4	FHL1
+300189_XLR:Intellectual developmental disorder, X-linked 90	OMIM2024Q4	DLG3
+300226_XLD:Deafness, X-linked 4##XLR:Myopathy, distal, 7, adult-onset, X-linked	OMIM2024Q4	SMPX
+300237_XLD:Hijazi-Reis syndrome	OMIM2024Q4	TCEAL1
+300248_XL:Autoinflammatory disease, systemic, X-linked##XLR:Ectodermal dysplasia and immunodeficiency 1##XLR:Immunodeficiency 33##XLD:Incontinentia pigmenti	OMIM2024Q4	IKBKG
+300262_XL:Intellectual developmental disorder, X-linked syndromic, Abidi type	OMIM2024Q4	MRXSAB
+300265_XLR:Congenital heart defects, nonsyndromic, 1, X-linked##XLR:Heterotaxy, visceral, 1, X-linked##XLR:VACTERL association, X-linked	OMIM2024Q4	ZIC3
+300307_XL:?Abruzzo-Erickson syndrome##XL:Cleft palate with ankyloglossia	OMIM2024Q4	TBX22
+300390_XL:Choroideremia	OMIM2024Q4	CHM
+300398_XLR:Deafness, dystonia, and cerebral hypomyelination	OMIM2024Q4	BCAP31
+300441_XLR:Immunodeficiency 102	OMIM2024Q4	SASH3
+300474_XLR:Glycerol kinase deficiency	OMIM2024Q4	GK
+300505_XLR:Intellectual developmental disorder, X-linked 84	OMIM2024Q4	MRX84
+300509_.:{Dyslexia, susceptibility to, 9}	OMIM2024Q4	DYX9
+300522_XLD:Intellectual developmental disorder, X-linked 1	OMIM2024Q4	IQSEC2
+300524_XLD:Intellectual developmental disorder, X-linked 98	OMIM2024Q4	NEXMIF
+300545_XLR:?Paganini-Miozzo syndrome	OMIM2024Q4	HS6ST2
+300546_XLR:Aarskog-Scott syndrome##XLR:Intellectual developmental disorder, X-linked syndromic 16	OMIM2024Q4	FGD1
+300642_.:?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia	OMIM2024Q4	SRPX2
+300774_XLR:Intellectual developmental disorder, X-linked 72##XLR:Waisman syndrome	OMIM2024Q4	RAB39B
+300776_XL:Developmental and epileptic encephalopathy 36	OMIM2024Q4	ALG13
+300808_XLR:Nystagmus 6, congenital, X-linked##XL:Ocular albinism, type I, Nettleship-Falls type	OMIM2024Q4	GPR143
+300828_XLR:{Autism, susceptibility to, X-linked 4}	OMIM2024Q4	PTCHD1
+300975_XLR:Intellectual developmental disorder, X-linked 105	OMIM2024Q4	USP27X
+146660_AR:{?Epidermodysplasia verruciformis, susceptibility to, 5}	OMIM2024Q4	IL7
+147245_AR:Agammaglobulinemia 6	OMIM2024Q4	CD79B
+147265_AD/AR:Gillespie syndrome##AD:Spinocerebellar ataxia 15##AD:Spinocerebellar ataxia 29, congenital nonprogressive	OMIM2024Q4	ITPR1
+147620_Mu:{Crohn disease-associated growth failure}##SMu:{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}##AD:{Kaposi sarcoma in HIV+, susceptibility to}##.:{Rheumatoid arthritis, systemic juvenile}##AR:{Type 1 diabetes mellitus}##AD:{Type 2 diabetes mellitus}	OMIM2024Q4	IL6
+147650_.:D-2-hydroxyglutaric aciduria 2	OMIM2024Q4	IDH2
+147810_AD:?Chronic recurrent multifocal osteomyelitis 3	OMIM2024Q4	IL1R1
+150330_AD:Cardiomyopathy, dilated, 1A##AR:Charcot-Marie-Tooth disease, type 2B1##AD:Emery-Dreifuss muscular dystrophy 2, autosomal dominant##AR:Emery-Dreifuss muscular dystrophy 3, autosomal recessive##AD:Heart-hand syndrome, Slovenian type##AD:Hutchinson-Gilford progeria##AD:Lipodystrophy, familial partial, type 2##AD:Malouf syndrome##AR:Mandibuloacral dysplasia##AD:Muscular dystrophy, congenital##AD:Restrictive dermopathy 2	OMIM2024Q4	LMNA
+151385_AD/SMu:Leukemia, acute myeloid##AD:Platelet disorder, familial, with associated myeloid malignancy	OMIM2024Q4	RUNX1
+153454_AR:Ehlers-Danlos syndrome, kyphoscoliotic type, 1	OMIM2024Q4	PLOD1
+155760_AD:?Spondyloepiphyseal dysplasia, Kimberley type##AD:Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans##AR:Spondyloepimetaphyseal dysplasia, aggrecan type	OMIM2024Q4	ACAN
+156225_AR:Muscular dystrophy, congenital, merosin deficient or partially deficient##AR:Muscular dystrophy, limb-girdle, autosomal recessive 23	OMIM2024Q4	LAMA2
+157140_AD:Frontotemporal dementia 1, with or without parkinsonism##AD:Pick disease##AD:Supranuclear palsy, progressive##AR:Supranuclear palsy, progressive atypical##AD/Mu:{Parkinson disease, susceptibility to}	OMIM2024Q4	MAPT
+159350_.:Colorectal cancer, somatic	OMIM2024Q4	MCC
+160777_AR:Griscelli syndrome, type 1	OMIM2024Q4	MYO5A
+160794_AD:Arthrogryposis, distal, type 1B##AD:Congenital myopathy 16##AR:Lethal congenital contracture syndrome 4	OMIM2024Q4	MYBPC1
+164020_AD:Intellectual developmental disorder, autosomal dominant 74	OMIM2024Q4	HNRNPC
+164040_.:Leukemia, acute myeloid, somatic	OMIM2024Q4	NPM1
+602401_AR:Ectodermal dysplasia 8, hair/tooth/nail type	OMIM2024Q4	ECTD8
+602430_AR:?Nystagmus 8, congenital, autosomal recessive##AR:Neurooculorenal syndrome##AD:Pituitary hormone deficiency, combined or isolated, 8	OMIM2024Q4	ROBO1
+602431_AD:Vesicoureteral reflux 2	OMIM2024Q4	ROBO2
+602438_AD:Cataract 5, multiple types	OMIM2024Q4	HSF4
+602486_AR:Anauxetic dysplasia 2	OMIM2024Q4	POP1
+602498_AR:?Spastic paraplegia 57, autosomal recessive##AD:Hereditary motor and sensory neuropathy, Okinawa type	OMIM2024Q4	TFG
+602529_AD:Lissencephaly 3	OMIM2024Q4	TUBA1A
+602552_AR:Fetal akinesia deformation sequence 4	OMIM2024Q4	NUP88
+602568_AR:Homocystinuria-megaloblastic anemia, cbl E type##AR:{Neural tube defects, folate-sensitive, susceptibility to}	OMIM2024Q4	MTRR
+602574_AD:Deafness, autosomal dominant 8/12##AR:Deafness, autosomal recessive 21	OMIM2024Q4	TECTA
+602601_.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	OLR1
+602627_AR:?Meier-Gorlin syndrome 5	OMIM2024Q4	CDC6
+602638_AR:Immunodeficiency 54	OMIM2024Q4	MCM4
+602650_AD:Nabais Sa-de Vries syndrome, type 1##AD:Nabais Sa-de Vries syndrome, type 2	OMIM2024Q4	SPOP
+602658_AR:Intellectual developmental disorder with paroxysmal dyskinesia or seizures	OMIM2024Q4	PDE2A
+602686_.:Lymphoma, B-cell, somatic##AR:Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition##.:Prostate cancer, somatic	OMIM2024Q4	MAD1L1
+602703_AR:Lissencephaly 6, with microcephaly	OMIM2024Q4	KATNB1
+602767_AR:Ectodermal dysplasia 4, hair/nail type	OMIM2024Q4	KRT85
+602781_AD:Febrile seizures, familial, 2##AD:Generalized epilepsy with febrile seizures plus, type 11##AD:{Epilepsy, idiopathic generalized, susceptibility to, 17}	OMIM2024Q4	HCN2
+602852_AR:Intellectual developmental disorder with or without peripheral neuropathy	OMIM2024Q4	NUDT2
+602861_AD:Arrhythmogenic right ventricular dysplasia 9	OMIM2024Q4	PKP2
+602867_AR:Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	OMIM2024Q4	IGFBP7
+602943_AR:Immunodeficiency 42	OMIM2024Q4	RORC
+603078_AD:Oocyte/zygote/embryo maturation arrest 21	OMIM2024Q4	CHEK1
+603100_AR:Lipodystrophy, congenital generalized, type 1	OMIM2024Q4	AGPAT2
+603103_AR:Carboxypeptidase N deficiency	OMIM2024Q4	CPN1
+603157_AD:Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	OMIM2024Q4	PIK3R2
+603165_AD:{Dermatitis, atopic, susceptibility to, 1}	OMIM2024Q4	ATOD1
+603197_AR:?Laurence-Moon syndrome##AR:Boucher-Neuhauser syndrome##AR:Oliver-McFarlane syndrome##AR:Spastic paraplegia 39, autosomal recessive	OMIM2024Q4	PNPLA6
+603202_AR:Lactase deficiency, congenital	OMIM2024Q4	LCT
+603234_AR:Arterial calcification, generalized, of infancy, 2##AR:Pseudoxanthoma elasticum##AD:Pseudoxanthoma elasticum, forme fruste	OMIM2024Q4	ABCC6
+603288_AR:Cornea plana 2, autosomal recessive	OMIM2024Q4	KERA
+603305_AD:Temple-Baraitser syndrome##AD:Zimmermann-Laband syndrome 1	OMIM2024Q4	KCNH1
+603313_AD:{Long QT syndrome, acquired, reduced susceptibility to}	OMIM2024Q4	ALG10B
+603330_AR:Ciliary dyskinesia, primary, 40	OMIM2024Q4	DNAH9
+603331_AR:Neurodevelopmental disorder with microcephaly and structural brain anomalies	OMIM2024Q4	DYNC1I2
+603359_AR:Mitochondrial complex I deficiency, nuclear type 37	OMIM2024Q4	NDUFA8
+303631_XLR:?Deafness, X-linked 6	OMIM2024Q4	COL4A6
+309200_XLD:{?Major affective disorder 2}	OMIM2024Q4	MAFD2
+312612_XL:?Retinitis pigmentosa, X-linked recessive, 6	OMIM2024Q4	RP6
+312820_XL:Spermatogenic failure, X-linked, 5	OMIM2024Q4	SSX1
+313700_XLR:Androgen insensitivity##XLR:Androgen insensitivity, partial, with or without breast cancer##XLR:Hypospadias 1, X-linked##XLR:Spinal and bulbar muscular atrophy, X-linked 1##XL:{Prostate cancer, susceptibility to}	OMIM2024Q4	AR
+400004_YL:Retinitis pigmentosa, Y-linked	OMIM2024Q4	RPY
+400043_YL:Deafness, Y-linked 1	OMIM2024Q4	DFNY1
+600024_AD:?Reynolds syndrome##AR:Greenberg skeletal dysplasia##AD:Pelger-Huet anomaly##AR:Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly	OMIM2024Q4	LBR
+600031_AR:[Chitotriosidase deficiency]	OMIM2024Q4	CHIT1
+600037_AD:Microphthalmia, syndromic 5##AD:Pituitary hormone deficiency, combined, 6##AD:Retinal dystrophy, early-onset, with or without pituitary dysfunction	OMIM2024Q4	OTX2
+600065_AR:Leukocyte adhesion deficiency	OMIM2024Q4	ITGB2
+600073_AR:Donnai-Barrow syndrome	OMIM2024Q4	LRP2
+600140_AD:Menke-Hennekam syndrome 1##AD:Rubinstein-Taybi syndrome 1	OMIM2024Q4	CREBBP
+600154_AR:Glycosylphosphatidylinositol biosynthesis defect 17	OMIM2024Q4	PIGH
+600163_AD:Atrial fibrillation, familial, 10##AD:Brugada syndrome 1##AD:Cardiomyopathy, dilated, 1E##AD:Heart block, nonprogressive##AD:Heart block, progressive, type IA##AD:Long QT syndrome 3##AR:Sick sinus syndrome 1##.:Ventricular fibrillation, familial, 1##AR:{Sudden infant death syndrome, susceptibility to}	OMIM2024Q4	SCN5A
+600168_AD:{Nasopharyngeal carcinoma, susceptibility to, 3}	OMIM2024Q4	MST1R
+600211_AD:Cleidocranial dysplasia##AD:Cleidocranial dysplasia, forme fruste, dental anomalies only##AD:Cleidocranial dysplasia, forme fruste, with brachydactyly##AD:Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	OMIM2024Q4	RUNX2
+600221_AD:Glaucoma 3, primary congenital, E##AD:Venous malformations, multiple cutaneous and mucosal	OMIM2024Q4	TEK
+600234_AR:HMG-CoA synthase-2 deficiency	OMIM2024Q4	HMGCS2
+600238_AR:?Uncombable hair syndrome 2	OMIM2024Q4	TGM3
+600259_.:Lynch syndrome 4##AR:Mismatch repair cancer syndrome 4	OMIM2024Q4	PMS2
+600286_AR:Gastrointestinal defects and immunodeficiency syndrome 2##AR:Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis##AR:Spastic paraplegia 84, autosomal recessive	OMIM2024Q4	PI4KA
+600294_AR:Lethal congenital contracture syndrome 8	OMIM2024Q4	ADCY6
+600308_AR:?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	OMIM2024Q4	AQP4
+600362_AR:Cardiomyopathy, dilated, 2J	OMIM2024Q4	FLII
+600374_AR:Bardet-Biedl syndrome 4	OMIM2024Q4	BBS4
+164860_AD:?Arthrogryposis, distal, type 11##AR:?Deafness, autosomal recessive 97##.:Hepatocellular carcinoma, childhood type, somatic##.:Renal cell carcinoma, papillary, 1, familial and somatic##AD:{Osteofibrous dysplasia, susceptibility to}	OMIM2024Q4	MET
+167413_AD:Diabetes mellitus, type 2##.:Maturity-onset diabetes of the young, type IX##AD/AR:{Diabetes mellitus, ketosis-prone, susceptibility to}	OMIM2024Q4	PAX4
+168468_AR:Chondrodysplasia, Blomstrand type##AR:Eiken syndrome##AD:Failure of tooth eruption, primary##AD:Metaphyseal chondrodysplasia, Murk Jansen type	OMIM2024Q4	PTH1R
+171650_AR:?Lysosomal acid phosphatase deficiency	OMIM2024Q4	ACP2
+172411_AD/SMu:{?Colorectal cancer, susceptibility to}	OMIM2024Q4	PLA2G2A
+172420_AD:?Immune dysregulation, autoimmunity, and autoinflammation	OMIM2024Q4	PLCG1
+173410_AD:Basal ganglia calcification, idiopathic, 4##AD:Kosaki overgrowth syndrome##AD:Myeloproliferative disorder with eosinophilia##AD:Myofibromatosis, infantile, 1##AD:Premature aging syndrome, Penttinen type	OMIM2024Q4	PDGFRB
+176261_AR:Jervell and Lange-Nielsen syndrome 2##AD:Long QT syndrome 5	OMIM2024Q4	KCNE1
+176262_AD:Developmental and epileptic encephalopathy 32	OMIM2024Q4	KCNA2
+176300_AD:Amyloidosis, hereditary, transthyretin-related##AD:Carpal tunnel syndrome, familial##AD:[Dystransthyretinemic hyperthyroxinemia]	OMIM2024Q4	TTR
+176780_AD:{Pelvic organ prolapse, susceptibility to, 1}	OMIM2024Q4	PVOP1
+176797_.:Leukemia, acute promyelocytic, PL2F/RARA type	OMIM2024Q4	ZBTB16
+176830_AR:Obesity, adrenal insufficiency, and red hair due to POMC deficiency##AD/AR/Mu:{Obesity, early-onset, susceptibility to}	OMIM2024Q4	POMC
+176872_AD:Cardiofaciocutaneous syndrome 3##.:Melorheostosis, isolated, somatic mosaic	OMIM2024Q4	MAP2K1
+176947_AR:Autoimmune disease, multisystem, infantile-onset, 2##AR:Immunodeficiency 48	OMIM2024Q4	ZAP70
+176960_.:Pituitary tumor, invasive	OMIM2024Q4	PRKCA
+177400_AR:Butyrylcholinesterase deficiency##AR:{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}	OMIM2024Q4	BCHE
+178630_AD/AR:Interstitial lung disease 1	OMIM2024Q4	SFTPA1
+179605_AD:Choroidal dystrophy, central areolar 2##AD/AR/DD:Leber congenital amaurosis 18##AD:Macular dystrophy, patterned, 1##AD:Macular dystrophy, vitelliform, 3##AD/AR/DD:Retinitis pigmentosa 7 and digenic form##AD/AR:Retinitis punctata albescens	OMIM2024Q4	PRPH2
+180020_AD:?Retinal cone dystrophy-1	OMIM2024Q4	RCD1
+180468_AD:Diamond-Blackfan anemia 5	OMIM2024Q4	RPL35A
+181510_AD:{Schizophrenia}	OMIM2024Q4	SCZD1
+181800_AD:Scoliosis, idiopathic 1	OMIM2024Q4	IS1
+182389_AD:Developmental and epileptic encephalopathy 6B, non-Dravet##AD:Dravet syndrome##AD:Febrile seizures, familial, 3A##AD:Generalized epilepsy with febrile seizures plus, type 2##AD:Migraine, familial hemiplegic, 3	OMIM2024Q4	SCN1A
+182390_AD:Developmental and epileptic encephalopathy 11##AD:Episodic ataxia, type 9##AD:Seizures, benign familial infantile, 3	OMIM2024Q4	SCN2A
+184700_AD:Polycystic ovary syndrome 1	OMIM2024Q4	PCOS1
+184755_AR:?Leukoencephalopathy with dystonia and motor neuropathy	OMIM2024Q4	SCP2
+185605_AD:Baker-Gordon syndrome	OMIM2024Q4	SYT1
+603360_AR:Peroxisome biogenesis disorder 8A (Zellweger)##AR:Peroxisome biogenesis disorder 8B	OMIM2024Q4	PEX16
+603499_AD:Osteolysis, familial expansile##AR:Osteopetrosis, autosomal recessive 7##AD:{Paget disease of bone 2, early-onset}	OMIM2024Q4	TNFRSF11A
+603506_AD:Endosteal hyperostosis##AD/AR:Exudative vitreoretinopathy 4##AD:Osteopetrosis, autosomal dominant 1##AR:Osteoporosis-pseudoglioma syndrome##AD:Polycystic liver disease 4 with or without kidney cysts##AD:[Bone mineral density variability 1]	OMIM2024Q4	LRP5
+603539_AR:Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	OMIM2024Q4	CTSF
+603601_AR:Oculoskeletodental syndrome	OMIM2024Q4	PIK3C2A
+603604_AR:Infantile neuroaxonal dystrophy 1##AR:Neurodegeneration with brain iron accumulation 2B##AR:Parkinson disease 14, autosomal recessive	OMIM2024Q4	PLA2G6
+603623_AD:Charcot-Marie-Tooth disease, dominant intermediate C##AR:Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2	OMIM2024Q4	YARS1
+603681_AR:Auditory neuropathy, autosomal recessive, 1##AR:Deafness, autosomal recessive 9	OMIM2024Q4	OTOF
+603693_AD:46XY sex reversal 9##.:Diaphragmatic hernia 3##AD:Tetralogy of Fallot	OMIM2024Q4	ZFPM2
+603708_AR:Molybdenum cofactor deficiency B	OMIM2024Q4	MOCS2
+603833_AR:?Mitochondrial complex IV deficiency, nuclear type 21	OMIM2024Q4	NDUFA4
+603846_AR:Mitochondrial complex I deficiency, nuclear type 8	OMIM2024Q4	NDUFS3
+603930_AR:Molybdenum cofactor deficiency C	OMIM2024Q4	GPHN
+604001_AD:?Long QT syndrome 11	OMIM2024Q4	AKAP9
+604043_AR:?Retinitis pigmentosa 67	OMIM2024Q4	NEK2
+604060_AR:Deafness, autosomal recessive 20	OMIM2024Q4	DFNB20
+604103_AD:Myopathy, myofibrillar, 3	OMIM2024Q4	MYOT
+604115_AD:Beckwith-Wiedemann syndrome	OMIM2024Q4	KCNQ1OT1
+604139_AR:Neuronopathy, distal hereditary motor, autosomal recessive 5	OMIM2024Q4	DNAJB2
+604141_AD:Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	OMIM2024Q4	ARFGEF1
+604149_AD:Dystonia-11, myoclonic	OMIM2024Q4	SGCE
+604161_AD:?Precocious puberty, central, 1##AR:Hypogonadotropic hypogonadism 8 with or without anosmia	OMIM2024Q4	KISS1R
+604185_AD:Facial paresis, hereditary congenital, 2	OMIM2024Q4	MBS3
+604277_AD:Spastic paraplegia 4, autosomal dominant	OMIM2024Q4	SPAST
+604294_AR:?Microphthalmia, syndromic 11	OMIM2024Q4	VAX1
+604310_AR:Hermansky-Pudlak syndrome 9	OMIM2024Q4	BLOC1S6
+604329_Mu:{Hypertension, essential, susceptibility to, 2}	OMIM2024Q4	HYT2
+604333_AR:Multiple mitochondrial dysfunctions syndrome 10	OMIM2024Q4	CIAO1
+604386_AD:Trichorhinophalangeal syndrome, type I##AD:Trichorhinophalangeal syndrome, type III	OMIM2024Q4	TRPS1
+604427_AD:Episodic pain syndrome, familial, 2	OMIM2024Q4	SCN10A
+252350_AR:Moyamoya disease	OMIM2024Q4	MYMY1
+258500_AR:Optic atrophy 6	OMIM2024Q4	OPA6
+267700_AR:Hemophagocytic lymphohistiocytosis, familial, 1	OMIM2024Q4	HPLH1
+275220_AR:?Tibial hemimelia	OMIM2024Q4	THMA
+276000_AD:Pancreatitis, hereditary	OMIM2024Q4	PRSS1
+300014_XLR:?Spinocerebellar ataxia, X-linked 1	OMIM2024Q4	ATP2B3
+300035_XLD:Craniofrontonasal dysplasia	OMIM2024Q4	EFNB1
+300047_XL:Intellectual developmental disorder, X-linked 20	OMIM2024Q4	MRX20
+300056_XLD:Linear skin defects with multiple congenital anomalies 1	OMIM2024Q4	HCCS
+300078_XLR:Mitochondrial complex I deficiency, nuclear type 12	OMIM2024Q4	NDUFA1
+300080_XLR:TARP syndrome	OMIM2024Q4	RBM10
+300131_XLD:Bone mineral density QTL18, osteoporosis##XL:Diaphragmatic hernia 5, X-linked	OMIM2024Q4	PLS3
+300168_XLR:Keipert syndrome	OMIM2024Q4	GPC4
+300169_XLR:Combined oxidative phosphorylation deficiency 6##XLR:Cowchock syndrome##XLR:Deafness, X-linked 5##XLR:Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	OMIM2024Q4	AIFM1
+300170_XLR:?Retinitis pigmentosa 23##XLR:Joubert syndrome 10##XLD:Orofaciodigital syndrome I##XLR:Simpson-Golabi-Behmel syndrome, type 2	OMIM2024Q4	OFD1
+300197_XLR:Immunodeficiency 47	OMIM2024Q4	ATP6AP1
+300247_XL:Ovarian dysgenesis 2##XL:Premature ovarian failure 4	OMIM2024Q4	BMP15
+600423_AD:?Hirschsprung disease, cardiac defects, and autonomic dysfunction##Mu:{Hypertension, essential, susceptibility to}	OMIM2024Q4	ECE1
+600438_AR:?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	OMIM2024Q4	TFAM
+600451_AR:{46XY sex reversal 8, modifier of}	OMIM2024Q4	AKR1C4
+600456_AD:Developmental and epileptic encephalopathy 58##AD:Obesity, hyperphagia, and developmental delay	OMIM2024Q4	NTRK2
+600511_AD:{Schizophrenia}	OMIM2024Q4	SCZD3
+600537_AR:RECON progeroid syndrome	OMIM2024Q4	RECQL
+600543_AD:Amyotrophic lateral sclerosis 19	OMIM2024Q4	ERBB4
+600568_AD:{Autism, susceptibility to, 20}	OMIM2024Q4	NLGN1
+600678_AD:Lynch syndrome 5##AR:Mismatch repair cancer syndrome 3##AD/SMu:{Endometrial cancer, familial}	OMIM2024Q4	MSH6
+600694_AD:?Immunodeficiency 94 with autoinflammation and dysmorphic facies##AD:Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections##AR:Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections##AR:Stuve-Wiedemann syndrome 2	OMIM2024Q4	IL6ST
+600760_AD:Bronchiectasis with or without elevated sweat chloride 1##AD:Liddle syndrome 1##AR:Pseudohypoaldosteronism, type IB2, autosomal recessive	OMIM2024Q4	SCNN1B
+600770_AD:{Pulmonary fibrosis, idiopathic, susceptibility to}	OMIM2024Q4	MUC5B
+600774_AR:Intellectual developmental disorder, autosomal recessive 60	OMIM2024Q4	TAF13
+600828_AR:Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7	OMIM2024Q4	ATP5PO
+600829_AR:Opsismodysplasia	OMIM2024Q4	INPPL1
+600840_AD:Deafness, autosomal dominant 78##AD:Delpire-McNeill syndrome##AR:Kilquist syndrome	OMIM2024Q4	SLC12A2
+600844_AD:Deafness, autosomal dominant 41	OMIM2024Q4	P2RX2
+600855_AD:Intellectual developmental disorder, autosomal dominant 7	OMIM2024Q4	DYRK1A
+600877_AD:Keppen-Lubinsky syndrome	OMIM2024Q4	KCNJ6
+600898_AD:Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	OMIM2024Q4	SOX11
+600921_AD:Multiple synostoses syndrome 3	OMIM2024Q4	FGF9
+600985_AR:Ehlers-Danlos syndrome, classic-like, 1##AD:Vesicoureteral reflux 8	OMIM2024Q4	TNXB
+601007_AR:Obesity, morbid, due to leptin receptor deficiency	OMIM2024Q4	LEPR
+601017_AD:Long QT syndrome 12	OMIM2024Q4	SNTA1
+601019_AR:Glycine encephalopathy with normal serum glycine	OMIM2024Q4	SLC6A9
+601022_.:{Rheumatoid arthritis, susceptibility to}	OMIM2024Q4	NFKBIL1
+601045_AD:Blepharocheilodontic syndrome 2	OMIM2024Q4	CTNND1
+601192_AR:[Fleck retina, familial benign]	OMIM2024Q4	PLA2G5
+601301_AR:Pontocerebellar hypoplasia, type 14	OMIM2024Q4	PPIL1
+601318_.:{Diabetes mellitus, insulin-dependent, 13}	OMIM2024Q4	IDDM13
+601327_AD:Atrial fibrillation, familial, 14	OMIM2024Q4	SCN2B
+604489_AR:Alpha-methylacyl-CoA racemase deficiency##AR:Bile acid synthesis defect, congenital, 4	OMIM2024Q4	AMACR
+604519_AD:{Inflammatory bowel disease 3}	OMIM2024Q4	IBD3
+604569_AR:Pitt-Hopkins like syndrome 1##.:{Autism susceptibility 15}	OMIM2024Q4	CNTNAP2
+604580_AD:?Cutis laxa, autosomal dominant 2##AD:Charcot-Marie-Tooth disease, demyelinating, type 1H##AR:Cutis laxa, autosomal recessive, type IA##AD:Macular degeneration, age-related, 3	OMIM2024Q4	FBLN5
+604611_AR:Werner syndrome	OMIM2024Q4	WRN
+604653_AD:Hemochromatosis, type 4	OMIM2024Q4	SLC40A1
+604687_.:{Asthma, susceptibility to, 1}	OMIM2024Q4	PTGDR
+604710_AR:Cutis laxa, autosomal recessive, type IC	OMIM2024Q4	LTBP4
+604827_IC:Epilepsy, juvenile myoclonic##IC:{Epilepsy, idiopathic generalized, susceptibility to, 7}	OMIM2024Q4	EJM2
+604873_AR:Deafness, autosomal recessive 111	OMIM2024Q4	MPZL2
+604902_AR:Cerebellofaciodental syndrome	OMIM2024Q4	BRF1
+604910_AD:Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	OMIM2024Q4	CNOT3
+604982_AR:Hermansky-Pudlak syndrome 1	OMIM2024Q4	HPS1
+604990_AD:Nephrolithiasis/osteoporosis, hypophosphatemic, 2	OMIM2024Q4	NHERF1
+605010_AR:Netherton syndrome	OMIM2024Q4	SPINK5
+605100_.:Breast cancer, somatic##AD:Jansen-de Vries syndrome	OMIM2024Q4	PPM1D
+605152_AR:Heterotaxy, visceral, 11, autosomal, with male infertility	OMIM2024Q4	CFAP45
+605185_AD:Adams-Oliver syndrome 6	OMIM2024Q4	DLL4
+605219_AD:Deafness, autosomal dominant 64	OMIM2024Q4	DIABLO
+605239_AR:Distal renal tubular acidosis 3, with or without sensorineural hearing loss	OMIM2024Q4	ATP6V0A4
+605244_.:Carney complex, type II	OMIM2024Q4	CNC2
+605254_AD:Acne inversa, familial, 1	OMIM2024Q4	NCSTN
+605270_AR:Mucopolysaccharidosis type IIIA (Sanfilippo A)	OMIM2024Q4	SGSH
+605325_Mu:{Hypertension, salt-sensitive essential, susceptibility to}	OMIM2024Q4	CYP3A5
+605364_.:{Psoriasis susceptibility 6}	OMIM2024Q4	PSORS6
+605383_AR:Immunodeficiency 56	OMIM2024Q4	IL21R
+605384_AR:?Immunodeficiency, common variable, 11	OMIM2024Q4	IL21
+605391_AR:Pontocerebellar hypoplasia, type 16##AD/SMu:{Thyroid carcinoma, follicular}	OMIM2024Q4	MINPP1
+605425_AD:Erythrokeratodermia variabilis et progressiva 2	OMIM2024Q4	GJB4
+605435_AD:Congenital heart defects and ectodermal dysplasia	OMIM2024Q4	PRKD1
+605460_AR:Sitosterolemia 1##.:{Gallbladder disease 4}	OMIM2024Q4	ABCG8
+605463_.:Radiation sensitivity/chromosome instability syndrome, autosomal dominant	OMIM2024Q4	RSCIS
+605480_.:{Systemic lupus erythematosus, susceptibility to, 3}	OMIM2024Q4	SLEB3
+605483_AR:Ciliary dyskinesia, primary, 9, with or without situs inversus	OMIM2024Q4	DNAI2
+186740_AR:Immunodeficiency 17, CD3 gamma deficient	OMIM2024Q4	CD3G
+186960_.:Leukemia/lymphoma, T-cell	OMIM2024Q4	TCL1A
+187270_AD/AR:Dyskeratosis congenita, autosomal dominant 2##AD/AR:Dyskeratosis congenita, autosomal recessive 4##AD:Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1##AD/SMu:{Leukemia, acute myeloid}##AD:{Melanoma, cutaneous malignant, 9}	OMIM2024Q4	TERT
+188250_AR:?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3##AR:Mitochondrial DNA depletion syndrome 2 (myopathic type)	OMIM2024Q4	TK2
+189909_AD:Corneal dystrophy, Fuchs endothelial, 6##AD:Corneal dystrophy, posterior polymorphous, 3	OMIM2024Q4	ZEB1
+190020_.:Bladder cancer, somatic##AD:Congenital myopathy with excess of muscle spindles##AD:Costello syndrome##.:Nevus sebaceous or woolly hair nevus, somatic##.:Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic##.:Spitz nevus or nevus spilus, somatic##.:Thyroid carcinoma, follicular, somatic	OMIM2024Q4	HRAS
+190180_AD:Camurati-Engelmann disease##AR:Inflammatory bowel disease, immunodeficiency, and encephalopathy##AR:{Cystic fibrosis lung disease, modifier of}	OMIM2024Q4	TGFB1
+190220_AD:Loeys-Dietz syndrome 4	OMIM2024Q4	TGFB2
+190470_AR:Immunodeficiency 78 with autoimmunity and developmental delay	OMIM2024Q4	TPP2
+191170_AD:Bone marrow failure syndrome 5##.:Breast cancer, somatic##.:Hepatocellular carcinoma, somatic##AD:Li-Fraumeni syndrome##.:Nasopharyngeal carcinoma, somatic##.:Pancreatic cancer, somatic##AD:{Adrenocortical carcinoma, pediatric}##AD:{Basal cell carcinoma 7}##AD:{Choroid plexus papilloma}##AD/SMu:{Colorectal cancer}##AD/SMu:{Glioma susceptibility 1}##SMu:{Osteosarcoma}	OMIM2024Q4	TP53
+191315_AR:Insensitivity to pain, congenital, with anhidrosis	OMIM2024Q4	NTRK1
+191328_AD:Parkinsonism with polyneuropathy	OMIM2024Q4	UQCRC1
+191390_Mu:{Inflammatory bowel disease 11}	OMIM2024Q4	IBD11
+191525_AR:Immunodeficiency with hyper IgM, type 5	OMIM2024Q4	UNG
+191740_AR:Crigler-Najjar syndrome, type I##AR:Crigler-Najjar syndrome, type II##AD/AR:Hyperbilirubinemia, familial transient neonatal##.:[Bilirubin, serum level of, QTL1]##AR:[Gilbert syndrome]	OMIM2024Q4	UGT1A1
+191760_AR:Developmental and epileptic encephalopathy 83	OMIM2024Q4	UGP2
+192132_AR:Distal renal tubular acidosis 2 with progressive sensorineural hearing loss	OMIM2024Q4	ATP6V1B1
+193060_AD:Cataract 30, pulverulent	OMIM2024Q4	VIM
+214900_AR:Cholestasis-lymphedema syndrome	OMIM2024Q4	LCS1
+217050_AR:C6 deficiency	OMIM2024Q4	C6
+601362_.:DiGeorge syndrome/velocardiofacial syndrome complex-2	OMIM2024Q4	DGS2
+601385_AR:Intellectual developmental disorder, autosomal recessive 7	OMIM2024Q4	TUSC3
+601408_AD:Arboleda-Tham syndrome	OMIM2024Q4	KAT6A
+601428_AR:Lowry-Wood syndrome##AR:Microcephalic osteodysplastic primordial dwarfism, type I##AR:Roifman syndrome	OMIM2024Q4	RNU4ATAC
+601454_.:{Psoriasis susceptibility 3}	OMIM2024Q4	PSORS3
+601460_AD:Hypertrophic osteoarthropathy, primary, autosomal dominant##AR:PHOAR2-enteropathy syndrome	OMIM2024Q4	SLCO2A1
+601464_AD:KINSSHIP syndrome	OMIM2024Q4	AFF3
+601485_AD:Generalized epilepsy with febrile seizures plus, type 9	OMIM2024Q4	STX1B
+601570_AR:Fuhrmann syndrome##AR:Ulna and fibula, absence of, with severe limb deficiency	OMIM2024Q4	WNT7A
+601592_AR:Fetal akinesia deformation sequence 2##AR:Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	OMIM2024Q4	RAPSN
+601601_AD:Char syndrome##AD:Patent ductus arteriosus 2	OMIM2024Q4	TFAP2B
+601617_AD/AR:Fundus albipunctatus	OMIM2024Q4	RDH5
+601620_AD:Holt-Oram syndrome	OMIM2024Q4	TBX5
+601646_AD:Houge-Janssens syndrome 1	OMIM2024Q4	PPP2R5D
+601671_AD:Coffin-Siris syndrome 7	OMIM2024Q4	DPF2
+601723_AD:Microphthalmia/coloboma 11	OMIM2024Q4	FZD5
+601724_.:Maturity-onset diabetes of the young 6##AD:{Type 2 diabetes mellitus, susceptibility to}	OMIM2024Q4	NEUROD1
+601749_AD:Glomuvenous malformations	OMIM2024Q4	GLMN
+601789_AR:Peroxisome biogenesis disorder 11A (Zellweger)##AR:Peroxisome biogenesis disorder 11B	OMIM2024Q4	PEX13
+601806_AD:Lactase persistence/nonpersistence	OMIM2024Q4	MCM6
+601912_IC:?Orofacial cleft 10	OMIM2024Q4	SUMO1
+601913_AR:?Cardiomyopathy, dilated, 2H	OMIM2024Q4	GET3
+601962_AR:?MHC class I deficiency 3	OMIM2024Q4	TAPBP
+601972_AD:{Epilepsy, idiopathic generalized, susceptibility to, 15}	OMIM2024Q4	RORB
+601995_AR:Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	OMIM2024Q4	TNR
+602044_AD/AR/Mu:{Obesity, severe, and type II diabetes}	OMIM2024Q4	UCP3
+602048_AD:Intellectual developmental disorder, autosomal dominant 48	OMIM2024Q4	RAC1
+602090_AR:Dental anomalies and short stature##AD:Geleophysic dysplasia 3	OMIM2024Q4	LTBP3
+602122_AD:Bone marrow failure syndrome 1	OMIM2024Q4	SRP72
+602124_AD:Dystonia-7, torsion	OMIM2024Q4	DYT7
+602130_AD:?Macular dystrophy, patterned, 3	OMIM2024Q4	MAPKAPK3
+602140_AR:Mitochondrial complex I deficiency, nuclear type 32	OMIM2024Q4	NDUFB8
+602257_AR:Epilepsy, progressive myoclonic 4, with or without renal failure	OMIM2024Q4	SCARB2
+602274_AR:Congenital disorder of glycosylation, type IIt	OMIM2024Q4	GALNT2
+602332_AR:?Microcephaly 23, primary, autosomal recessive	OMIM2024Q4	NCAPH
+602360_AR:Cerebral creatine deficiency syndrome 3##AD:Fanconi renotubular syndrome 1	OMIM2024Q4	GATM
+300275_XLD:CHILD syndrome##XLR:CK syndrome	OMIM2024Q4	NSDHL
+300298_XLR:Intellectual developmental disorder, X-linked syndromic 14	OMIM2024Q4	UPF3B
+300304_XLR:Intellectual developmental disorder, X-linked syndromic, Cabezas type	OMIM2024Q4	CUL4B
+300309_XL:Spermatogenic failure, X-linked, 6	OMIM2024Q4	USP26
+300406_XL:FG syndrome 3	OMIM2024Q4	FGS3
+300433_XLR:Intellectual developmental disorder, X-linked 81	OMIM2024Q4	MRX81
+300451_XLR:Ectodermal dysplasia 1, hypohidrotic, X-linked##XLD:Tooth agenesis, selective, X-linked 1	OMIM2024Q4	EDA
+300457_XL:Cataract 40, X-linked##XLD:Nance-Horan syndrome	OMIM2024Q4	NHS
+300460_XL:Developmental and epileptic encephalopathy 9	OMIM2024Q4	PCDH19
+300481_XLR:Chronic granulomatous disease, X-linked##XLR:Immunodeficiency 34, mycobacteriosis, X-linked	OMIM2024Q4	CYBB
+300490_XLR:Lymphoproliferative syndrome, X-linked, 1	OMIM2024Q4	SH2D1A
+300580_XLD:Myopathy, congenital, with fiber-type disproportion, X-linked	OMIM2024Q4	CFTDX
+300581_XL:FG syndrome 5	OMIM2024Q4	FGS5
+300589_XLD:Nystagmus 5, congenital, X-linked	OMIM2024Q4	NYS5
+300610_XLD:Intellectual developmental disorder, X-linked syndromic, Bain type	OMIM2024Q4	HNRNPH2
+300611_XLR:Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature##.:Tn polyagglutination syndrome, somatic	OMIM2024Q4	C1GALT1C1
+300629_XLR:Pettigrew syndrome	OMIM2024Q4	AP1S2
+300651_XLD:Focal dermal hypoplasia	OMIM2024Q4	PORCN
+300681_XLR:Autoinflammatory disease, multisystem, with immune dysregulation, X-linked	OMIM2024Q4	DOCK11
+300712_XLD/XLR:?Craniofacioskeletal syndrome	OMIM2024Q4	CFSS
+300715_XLR:Congenital disorder of glycosylation, type Icc##XLR:Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	OMIM2024Q4	MAGT1
+300806_XLR:Intellectual developmental disorder, X-linked 109	OMIM2024Q4	AFF2
+300827_XLR:Metacarpal 4-5 fusion	OMIM2024Q4	FGF16
+300945_XLR:?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	OMIM2024Q4	TSR2
+300969_XLR:?Deafness, X-linked 7	OMIM2024Q4	GPRASP2
+301027_XL:Nephrotic syndrome, type 20	OMIM2024Q4	TBC1D8B
+302801_XLR:Charcot-Marie-Tooth neuropathy, X-linked recessive, 2	OMIM2024Q4	CMTX2
+302910_XLD:Raynaud-Claes syndrome	OMIM2024Q4	CLCN4
+304050_XLD:Aicardi syndrome	OMIM2024Q4	AIC
+305900_XL:Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient##.:{Resistance to malaria due to G6PD deficiency}	OMIM2024Q4	G6PD
+605507_AR:Psoriasis 14, pustular	OMIM2024Q4	IL36RN
+605512_AR:Ichthyosis, spastic quadriplegia, and impaired intellectual development##AD:Spinocerebellar ataxia 34##AD:Stargardt disease 3	OMIM2024Q4	ELOVL4
+605514_AR:Deafness, autosomal recessive 23##AR/DR:Usher syndrome, type 1D/F digenic##AR:Usher syndrome, type 1F	OMIM2024Q4	PCDH15
+605551_AR:Nephrotic syndrome, type 22	OMIM2024Q4	NOS1AP
+605597_AD/AR:Blepharophimosis, epicanthus inversus, and ptosis, type 1##AD/AR:Blepharophimosis, epicanthus inversus, and ptosis, type 2##AD:Premature ovarian failure 3	OMIM2024Q4	FOXL2
+605632_AR:Arthrogryposis, impaired intellectual development, and seizures	OMIM2024Q4	SLC35A3
+605642_.:Thyroid carcinoma, papillary, with papillary renal neoplasia	OMIM2024Q4	PTCPRN
+605673_AR:Oocyte/zygote/embryo maturation arrest 8	OMIM2024Q4	BTG4
+605712_AD:Amyotrophic lateral sclerosis 27, juvenile##AD:Neuropathy, hereditary sensory and autonomic, type IA	OMIM2024Q4	SPTLC1
+605739_AR:Myopathy, myofibrillar, 7	OMIM2024Q4	KY
+605742_AD:Macrothrombocytopenia, isolated, 2, autosomal dominant	OMIM2024Q4	TUBA8
+605743_AR:Nivelon-Nivelon-Mabille syndrome	OMIM2024Q4	HHAT
+605795_AR:Spermatogenic failure 25	OMIM2024Q4	TEX15
+605804_.:{Dermatitis, atopic, susceptibility to, 3}	OMIM2024Q4	ATOD3
+605828_AR:{Epidermodysplasia verruciformis, susceptibility to, 1}	OMIM2024Q4	TMC6
+605845_.:{Dermatitis, atopic, susceptibility to, 6}	OMIM2024Q4	ATOD6
+605848_AR:Ichthyosis, congenital, autosomal recessive 12	OMIM2024Q4	CASP14
+605868_AD:?Auditory neuropathy, autosomal dominant 2##AD:?Leukodystrophy, hypomyelinating, 24##AD:Deafness, autosomal dominant 84	OMIM2024Q4	ATP11A
+605882_.:Fanconi anemia, complementation group J##AD/SMu:{Breast cancer, early-onset, susceptibility to}	OMIM2024Q4	BRIP1
+605908_AR:Megalencephalic leukoencephalopathy with subcortical cysts 1	OMIM2024Q4	MLC1
+605925_AR:Microcephalic osteodysplastic primordial dwarfism, type II	OMIM2024Q4	PCNT
+605942_AR:Ehlers-Danlos syndrome, musculocontractural type 2	OMIM2024Q4	DSE
+605955_AR:Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	OMIM2024Q4	NKX6-2
+605958_AR:Seckel syndrome 9	OMIM2024Q4	TRAIP
+605993_AR:Pyruvate dehydrogenase phosphatase deficiency	OMIM2024Q4	PDP1
+606075_AR:Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)##AR:Perrault syndrome 5##AD:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	OMIM2024Q4	TWNK
+606153_AR:Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	OMIM2024Q4	ATP5F1E
+606278_AD:Developmental delay, hypotonia, and impaired language	OMIM2024Q4	FBXW7
+606358_AR:Respiratory infections, recurrent, and failure to thrive with or without diarrhea	OMIM2024Q4	AGR2
+606370_AR:Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	OMIM2024Q4	TPK1
+606419_AD:Retinitis pigmentosa 11	OMIM2024Q4	PRPF31
+606441_AR:3-methylglutaconic aciduria, type VIII##.:{Parkinson disease 13}	OMIM2024Q4	HTRA2
+606493_AR:?Pontocerebellar hypoplasia, type 1F	OMIM2024Q4	EXOSC1
+606526_AR:Griscelli syndrome, type 3	OMIM2024Q4	MLPH
+602367_AD:Spinocerebellar ataxia 50	OMIM2024Q4	NPTX1
+602376_AR:Immunodeficiency 45##.:{Hepatitis B virus, susceptibility to}	OMIM2024Q4	IFNAR2
+602389_AR:Combined oxidative phosphorylation deficiency 4	OMIM2024Q4	TUFM
+602410_AD:Intellectual developmental disorder with dysmorphic facies and ptosis	OMIM2024Q4	BRPF1
+602460_AD:Deafness, autosomal dominant 15/52	OMIM2024Q4	POU4F3
+602576_AR:Spondylocostal dysostosis 3, autosomal recessive	OMIM2024Q4	LFNG
+602590_AD:Intellectual developmental disorder with macrocephaly, seizures, and speech delay	OMIM2024Q4	PAK1
+602591_AD:Cortical dysplasia, complex, with other brain malformations 3	OMIM2024Q4	KIF2A
+602614_AD:Cardiospondylocarpofacial syndrome##AD:Frontometaphyseal dysplasia 2	OMIM2024Q4	MAP3K7
+602666_AR:Deafness, autosomal recessive 3	OMIM2024Q4	MYO15A
+602671_AD:Congenital disorder of glycosylation, type IIw##AR:Glycogen storage disease Ib##AR:Glycogen storage disease Ic	OMIM2024Q4	SLC37A4
+602694_AR:Mitochondrial complex I deficiency, nuclear type 1	OMIM2024Q4	NDUFS4
+602696_AR:?Meier-Gorlin syndrome 8	OMIM2024Q4	MCM5
+602706_AR:?Birk-Aharoni syndrome	OMIM2024Q4	PSMC1
+602717_AD:Developmental and epileptic encephalopathy 46	OMIM2024Q4	GRIN2D
+602743_AD:Cardiomyopathy, hypertrophic 6##AD:Glycogen storage disease of heart, lethal congenital##AD:Wolff-Parkinson-White syndrome	OMIM2024Q4	PRKAG2
+602821_AD:Myoclonus, intractable, neonatal##AD:Spastic paraplegia 10, autosomal dominant##AD:{Amyotrophic lateral sclerosis, susceptibility to, 25}	OMIM2024Q4	KIF5A
+602870_AD/AR:Macular dystrophy, vitelliform, 4##AD:Retinitis pigmentosa 91	OMIM2024Q4	IMPG1
+602952_AD:Rauch-Steindl syndrome	OMIM2024Q4	NSD2
+602966_AD:Orofacial cleft 2	OMIM2024Q4	OFC2
+602987_AD:?Deafness, autosomal dominant 74	OMIM2024Q4	PDE1C
+603015_AD:?Deafness, autosomal dominant 75##AD:Developmental delay with or without dysmorphic facies and autism	OMIM2024Q4	TRRAP
+603060_AR:Spastic ataxia 2, autosomal recessive	OMIM2024Q4	KIF1C
+603098_AR:Deafness, autosomal recessive 13	OMIM2024Q4	DFNB13
+603141_AR:Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities	OMIM2024Q4	PPFIBP1
+603189_AR:?Congenital disorder of glycosylation, type IIaa	OMIM2024Q4	STX5
+603191_AR:Retinal dystrophy with macular staphyloma##AR:Spondylometaphyseal dysplasia, axial	OMIM2024Q4	CFAP410
+603208_AR:Leber congenital amaurosis 16##AD:Snowflake vitreoretinal degeneration	OMIM2024Q4	KCNJ13
+603214_AR:Methylmalonic aciduria and homocystinuria, cblJ type	OMIM2024Q4	ABCD4
+603221_AD:Myopia-3	OMIM2024Q4	MYP3
+603236_AD:Porokeratosis 7, multiple types	OMIM2024Q4	MVD
+603252_AD:Otosclerosis 11	OMIM2024Q4	FOXL1
+603266_.:{Diabetes mellitus, insulin-dependent, 17}	OMIM2024Q4	IDDM17
+603273_AD:ADULT syndrome##AD:Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3##AD:Hay-Wells syndrome##AD:Limb-mammary syndrome##.:Orofacial cleft 8##AD:Premature ovarian failure 21##AD:Rapp-Hodgkin syndrome##AD:Split-hand/foot malformation 4	OMIM2024Q4	TP63
+603286_AR:?Hypogonadotropic hypogonadism 13 with or without anosmia	OMIM2024Q4	KISS1
+603345_AR:Proximal renal tubular acidosis-ocular anomaly syndrome	OMIM2024Q4	SLC4A4
+603386_.:Thyroid carcinoma, nonmedullary, with cell oxyphilia	OMIM2024Q4	TCO
+603400_AR:Progressive pseudorheumatoid dysplasia	OMIM2024Q4	CCN6
+603401_AR:Hermansky-Pudlak syndrome 2	OMIM2024Q4	AP3B1
+603405_AD:Neuromuscular disease and ocular or auditory anomalies with or without seizures	OMIM2024Q4	DHX16
+603415_AD:Erythermalgia, primary##AR:Insensitivity to pain, congenital##AR:Neuropathy, hereditary sensory and autonomic, type IID##AD:Paroxysmal extreme pain disorder##AD:Small fiber neuropathy	OMIM2024Q4	SCN9A
+238331_AR:Dihydrolipoamide dehydrogenase deficiency	OMIM2024Q4	DLD
+240400_.:Scurvy	OMIM2024Q4	GULOP
+243305_AR:Nephronophthisis 2, infantile	OMIM2024Q4	INVS
+248610_AR:Maple syrup urine disease, type II	OMIM2024Q4	DBT
+252800_AR:Mucopolysaccharidosis Ih##AR:Mucopolysaccharidosis Ih/s##AR:Mucopolysaccharidosis Is	OMIM2024Q4	IDUA
+309545_XL:?Intellectual developmental disorder, X-linked syndromic 12	OMIM2024Q4	MRXS12
+311870_XLR:Muscle glycogenosis	OMIM2024Q4	PHKA1
+313350_XL:Split hand/foot malformation 2	OMIM2024Q4	SHFM2
+314370_XLR:Spinal muscular atrophy, X-linked 2, infantile##.:VEXAS syndrome, somatic	OMIM2024Q4	UBA1
+400020_PR:Langer mesomelic dysplasia##PD:Leri-Weill dyschondrosteosis##.:Short stature, idiopathic familial	OMIM2024Q4	SHOX
+425500_YL:?Hairy ears, Y-linked	OMIM2024Q4	HEY
+600011_AD:Capillary malformation-arteriovenous malformation 2##AD:Lymphatic malformation 7	OMIM2024Q4	EPHB4
+600019_AR:Orthostatic hypotension 2	OMIM2024Q4	CYB561
+600040_.:Colorectal cancer, somatic##.:T-cell acute lymphoblastic leukemia, somatic	OMIM2024Q4	BAX
+600046_AD:HDL deficiency, familial, 1##AR:Tangier disease	OMIM2024Q4	ABCA1
+600111_AD:Episodic ataxia, type 6	OMIM2024Q4	SLC1A3
+600124_AD:?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2##AD:Oculopharyngeal muscular dystrophy 2	OMIM2024Q4	HNRNPA2B1
+600156_AD:{Hirschsprung disease, susceptibility to, 5}	OMIM2024Q4	HSCR5
+600157_AR:Keratitis-ichthyosis-deafness syndrome, autosomal recessive	OMIM2024Q4	AP1B1
+600228_AD:?Liddle syndrome 3##AD:Bronchiectasis with or without elevated sweat chloride 2##AR:Pseudohypoaldosteronism, type IB1, autosomal recessive	OMIM2024Q4	SCNN1A
+600236_AR:Stromme syndrome	OMIM2024Q4	CENPF
+600271_AR:Hypotrichosis and recurrent skin vesicles	OMIM2024Q4	DSC3
+600276_AD:?Myofibromatosis, infantile 2##AD:Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1##AD:Lateral meningocele syndrome	OMIM2024Q4	NOTCH3
+600287_AD:Charcot-Marie-Tooth disease, type 2D##AD:Neuronopathy, distal hereditary motor, autosomal dominant 5##AD:Spinal muscular atrophy, infantile, James type	OMIM2024Q4	GARS1
+600310_AD:Carpal tunnel syndrome 2##AD:Epiphyseal dysplasia, multiple, 1##AD:Pseudoachondroplasia	OMIM2024Q4	COMP
+600318_.:{Diabetes mellitus, insulin-dependent, 3}	OMIM2024Q4	IDDM3
+600321_.:{Diabetes mellitus, insulin-dependent, 7}	OMIM2024Q4	IDDM7
+600332_AD:Rippling muscle disease-1	OMIM2024Q4	RMD1
+600346_AD:Turnpenny-Fry syndrome	OMIM2024Q4	PCGF2
+600359_AR:Bartter syndrome, type 2	OMIM2024Q4	KCNJ1
+600370_AR:Mitochondrial phosphate carrier deficiency	OMIM2024Q4	SLC25A3
+600470_AD:?Craniosynostosis 6##AD:Structural brain anomalies with impaired intellectual development and craniosynostosis	OMIM2024Q4	ZIC1
+600529_AR:3-methylglutaconic aciduria, type I	OMIM2024Q4	AUH
+600548_AD:Anemia, sideroblastic, 4##AR:Even-plus syndrome	OMIM2024Q4	HSPA9
+600565_AR:Pitt-Hopkins-like syndrome 2##.:{Schizophrenia, susceptibility to, 17}	OMIM2024Q4	NRXN1
+600576_AD:?Testicular anomalies with or without congenital heart disease##AD:Atrial septal defect 2##AD:Atrioventricular septal defect 4##AD:Tetralogy of Fallot##AD:Ventricular septal defect 1	OMIM2024Q4	GATA4
+600631_AD:Enuresis, nocturnal, 1	OMIM2024Q4	ENUR1
+600635_AD:Chorea, hereditary benign##AD:Choreoathetosis, hypothyroidism, and neonatal respiratory distress##AD:{Thyroid cancer, nonmedullary, 1}	OMIM2024Q4	NKX2-1
+600639_AR:Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	OMIM2024Q4	CASP2
+606558_AD:Immunodeficiency 49, severe combined##AD:Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities	OMIM2024Q4	BCL11B
+606580_AR:3-methylglutaconic aciduria, type III##AD:Optic atrophy 3 with cataract	OMIM2024Q4	OPA3
+606621_AR:?Orofaciodigital syndrome XVIII	OMIM2024Q4	IFT57
+606640_AD:Amyotrophic lateral sclerosis 3	OMIM2024Q4	ALS3
+606706_AD:Deafness, autosomal dominant 36##AR:Deafness, autosomal recessive 7	OMIM2024Q4	TMC1
+606726_AR:Developmental and epileptic encephalopathy 34##AD:{Epilepsy, idiopathic generalized, susceptibility to, 14}	OMIM2024Q4	SLC12A5
+606742_AD:Atrial septal defect 6	OMIM2024Q4	TLL1
+606755_AR:Uncombable hair syndrome	OMIM2024Q4	PADI3
+606782_.:{Aspergillosis, susceptibility to}	OMIM2024Q4	CLEC1A
+606794_AR:?Mitochondrial DNA depletion syndrome 19	OMIM2024Q4	SLC25A10
+606821_AR:Congenital disorder of glycosylation, type IIi	OMIM2024Q4	COG5
+606831_AD:?Familial cold autoinflammatory syndrome 4##AD:Autoinflammation with infantile enterocolitis	OMIM2024Q4	NLRC4
+606834_AD:Dystonia 28, childhood-onset##AD:Intellectual developmental disorder, autosomal dominant 68	OMIM2024Q4	KMT2B
+606873_AR:Sandhoff disease, infantile, juvenile, and adult forms	OMIM2024Q4	HEXB
+606874_.:{Hirschsprung disease, susceptibility to, 6}	OMIM2024Q4	HSCR6
+606897_AR:Chediak-Higashi syndrome	OMIM2024Q4	LYST
+606919_AR:Epilepsy, progressive myoclonic, 8	OMIM2024Q4	CERS1
+606922_AD:Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis	OMIM2024Q4	OXGR1
+606938_AR:Porphyria, congenital erythropoietic	OMIM2024Q4	UROS
+606939_AD:Deafness, congenital, with onychodystrophy, autosomal dominant##AD:Zimmermann-Laband syndrome 2	OMIM2024Q4	ATP6V1B2
+606969_AR:Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	OMIM2024Q4	GEMIN4
+606977_AR:Congenital disorder of glycosylation, type IIl##AR:Shaheen syndrome	OMIM2024Q4	COG6
+606982_AR:Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	OMIM2024Q4	GGPS1
+607001_AD:Kleefstra syndrome 1	OMIM2024Q4	EHMT1
+607037_AD:?Fanconi renotubular syndrome 3	OMIM2024Q4	EHHADH
+607111_AR:Troyer syndrome	OMIM2024Q4	SPART
+607152_AD:Spastic paraplegia 19, autosomal dominant	OMIM2024Q4	SPG19
+607159_AD:Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	OMIM2024Q4	ZMIZ1
+607166_AR:?Spermatogenic failure 26	OMIM2024Q4	TSGA10
+607202_.:{Celiac disease, susceptibility to, 5}	OMIM2024Q4	CELIAC5
+607273_AD:Birt-Hogg-Dube syndrome##.:Colorectal cancer, somatic##AD:Pneumothorax, primary spontaneous##.:Renal carcinoma, chromophobe, somatic	OMIM2024Q4	FLCN
+607295_AR:Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	OMIM2024Q4	MYO18B
+607300_AD:Retinitis pigmentosa 13	OMIM2024Q4	PRPF8
+607307_AR:Neuromuscular disorder, congenital, with dysmorphic facies	OMIM2024Q4	FILIP1
+607397_AR:Glucocorticoid deficiency, due to ACTH unresponsiveness	OMIM2024Q4	MC2R
+607408_AD:{Schizophrenia}	OMIM2024Q4	DAOA
+607521_AR:Hermansky-Pudlak syndrome 5	OMIM2024Q4	HPS5
+607537_.:Mucoepidermoid salivary gland carcinoma	OMIM2024Q4	MAML2
+607560_AR:?Neurodevelopmental disorder with midbrain and hindbrain malformations	OMIM2024Q4	ARHGEF2
+607571_AR:?Mitochondrial DNA depletion syndrome 18	OMIM2024Q4	SLC25A21
+607606_AD:Palmoplantar keratoderma, epidermolytic, 1	OMIM2024Q4	KRT9
+603453_AD:Autoinflammation with episodic fever and lymphadenopathy##AR:Immunodeficiency 57 with autoinflammation	OMIM2024Q4	RIPK1
+603464_AR:Al Kaissi syndrome	OMIM2024Q4	CDK10
+603485_AR:Combined oxidative phosphorylation deficiency 52	OMIM2024Q4	NFS1
+603491_AR:?Lacrimal duct defect	OMIM2024Q4	IGSF3
+603495_AR:Spermatogenic failure 5	OMIM2024Q4	AURKC
+603507_AD:Tooth agenesis, selective, 7##AD:{Coronary artery disease, autosomal dominant, 2}	OMIM2024Q4	LRP6
+603540_AD:Neurodevelopmental disorder with language delay and variable cognitive abnormalities	OMIM2024Q4	GABBR1
+603584_AR:DEEAH syndrome##AR:Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia	OMIM2024Q4	MADD
+603617_AR:Night blindness, congenital stationary (complete), 1D, autosomal recessive	OMIM2024Q4	SLC24A1
+603633_AD:Diamond-Blackfan anemia 13	OMIM2024Q4	RPS29
+603634_AD:Diamond-Blackfan anemia 6	OMIM2024Q4	RPL5
+603644_AR:Mitochondrial complex IV deficiency, nuclear type 4	OMIM2024Q4	SCO1
+603650_AR:Bardet-Biedl syndrome 5	OMIM2024Q4	BBS5
+603667_AR:Developmental and epileptic encephalopathy 39	OMIM2024Q4	SLC25A12
+603673_.:Basal cell carcinoma, somatic##.:Medulloblastoma, somatic	OMIM2024Q4	PTCH2
+603683_AD:Brachycephaly, trichomegaly, and developmental delay	OMIM2024Q4	RPS23
+603685_AD:Diamond Blackfan anemia 15 with mandibulofacial dysostosis	OMIM2024Q4	RPS28
+603700_Mu:{Stroke, susceptibility to}	OMIM2024Q4	ALOX5AP
+603701_AD:Diamond-Blackfan anemia 10	OMIM2024Q4	RPS26
+603714_AD:Holoprosencephaly 2##.:Schizencephaly	OMIM2024Q4	SIX3
+603734_AD:{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}	OMIM2024Q4	IRF3
+603756_.:[Junior blood group system]##?AD:[Uric acid concentration, serum, QTL1]	OMIM2024Q4	ABCG2
+603780_AR:Baller-Gerold syndrome##AR:RAPADILINO syndrome##AR:Rothmund-Thomson syndrome, type 2	OMIM2024Q4	RECQL4
+603783_.:{Intelligence QTL1}	OMIM2024Q4	INTLQ1
+603785_AR:Hydrocephalus, congenital, 2, with or without brain or eye anomalies	OMIM2024Q4	MPDZ
+603808_AD:Intellectual developmental disorder, autosomal dominant 61	OMIM2024Q4	MED13
+603810_AR:Microcephaly, postnatal progressive, with seizures and brain atrophy	OMIM2024Q4	MED17
+603839_AR:Mitochondrial complex I deficiency, nuclear type 25	OMIM2024Q4	NDUFB3
+603842_AR:?Mitochondrial complex I deficiency, nuclear type 39	OMIM2024Q4	NDUFB7
+603843_AR:?Mitochondrial complex I deficiency, nuclear type 35	OMIM2024Q4	NDUFB10
+603914_AR:Intellectual developmental disorder, autosomal recessive 67	OMIM2024Q4	EIF3F
+603936_AD:?Vertebral hypersegmentation and orofacial anomalies	OMIM2024Q4	GDF11
+604024_AR:Peripheral motor neuropathy, childhood-onset, biotin-responsive##AR:Sodium-dependent multivitamin transporter deficiency	OMIM2024Q4	SLC5A6
+604083_AR:Neurodevelopmental disorder with impaired speech and hyperkinetic movements	OMIM2024Q4	ZNF142
+604096_AR:Night blindness, congenital stationary (complete), 1B, autosomal recessive	OMIM2024Q4	GRM6
+604165_AD:Pheochromocytoma/paraganglioma syndrome 6	OMIM2024Q4	SLC25A11
+604197_AR:Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	OMIM2024Q4	MTHFS
+604227_AR:Immunodeficiency 133 with autoimmunity and autoinflammation	OMIM2024Q4	ARPC5
+604269_AD:Spinocerebellar ataxia 45	OMIM2024Q4	FAT2
+604312_AD:Cerebral amyloid angiopathy##.:{Macular degeneration, age-related, 11}	OMIM2024Q4	CST3
+600644_AR:Cleft lip/palate-ectodermal dysplasia syndrome##AR:Orofacial cleft 7	OMIM2024Q4	NECTIN1
+600664_AR:?Cocoon syndrome##AR:?Popliteal pterygium syndrome, Bartsocas-Papas type 2	OMIM2024Q4	CHUK
+600667_AD:Omodysplasia 2	OMIM2024Q4	FZD2
+600675_AD/SMu:{Breast cancer, susceptibility to}##.:{Melanoma, cutaneous malignant, 6}	OMIM2024Q4	XRCC3
+600716_AR:{Diabetes, type 1, susceptibility to}##.:{Rheumatoid arthritis, susceptibility to}##AD:{Systemic lupus erythematosus susceptibility to}	OMIM2024Q4	PTPN22
+600728_AD:Macrocephaly, acquired, with impaired intellectual development	OMIM2024Q4	NFIB
+600733_.:MODY, type IV##AR:Pancreatic agenesis 1##AD:{Diabetes mellitus, type II, susceptibility to}	OMIM2024Q4	PDX1
+600756_AR:Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	OMIM2024Q4	PTPA
+600757_?AD:Orofacial cleft 3	OMIM2024Q4	OFC3
+600814_AR:Ataxia-telangiectasia-like disorder 1	OMIM2024Q4	MRE11
+600837_AD:{Hirschsprung disease, susceptibility to, 3}	OMIM2024Q4	GDNF
+600857_AR:Cardiomyopathy, dilated, 1GG##AR:Mitochondrial complex II deficiency, nuclear type 1##AD:Neurodegeneration with ataxia and late-onset optic atrophy##AD:Pheochromocytoma/paraganglioma syndrome 5	OMIM2024Q4	SDHA
+600864_AD:Advanced sleep-phase syndrome, familial, 2	OMIM2024Q4	CSNK1D
+600883_.:{Diabetes mellitus, insulin-dependent, 8}	OMIM2024Q4	IDDM8
+600890_AR:Fatty liver, acute, of pregnancy##AR:HELLP syndrome, maternal, of pregnancy##AR:LCHAD deficiency##AR:Mitochondrial trifunctional protein deficiency 1	OMIM2024Q4	HADHA
+600897_AD:Cataract 1, multiple types	OMIM2024Q4	GJA8
+600899_AR:Immunodeficiency 26, with or without neurologic abnormalities	OMIM2024Q4	PRKDC
+600923_AD:Variegate porphyria##AR:Variegate porphyria, childhood-onset	OMIM2024Q4	PPOX
+600924_AR:Myopathy, mitochondrial progressive, with congenital cataract and developmental delay	OMIM2024Q4	GFER
+600929_AD/AR:Cataract 17, multiple types	OMIM2024Q4	CRYBB1
+600940_AR:Mitochondrial DNA depletion syndrome 20 (MNGIE type)	OMIM2024Q4	LIG3
+600946_AD:Growth hormone insensitivity, partial##AD:Increased responsiveness to growth hormone##AR:Laron dwarfism##AD/AR:{Hypercholesterolemia, familial, modifier of}	OMIM2024Q4	GHR
+600993_AD:Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome##AD:Myhre syndrome##.:Pancreatic cancer, somatic##AD:Polyposis, juvenile intestinal	OMIM2024Q4	SMAD4
+601011_AD:Developmental and epileptic encephalopathy 42##AD:Episodic ataxia, type 2##AD:Migraine, familial hemiplegic, 1##AD:Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia##AD:Spinocerebellar ataxia 6	OMIM2024Q4	CACNA1A
+601128_AD:Bryant-Li-Bhoj neurodevelopmental syndrome 1	OMIM2024Q4	H3-3A
+601129_.:{Drug metabolism, altered, CYP2C8-related}	OMIM2024Q4	CYP2C8
+601150_AR:Warsaw breakage syndrome	OMIM2024Q4	DDX11
+601178_AD:Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline##AD:Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	OMIM2024Q4	CAPRIN1
+601199_AD/AR:Hyperparathyroidism, neonatal##AD:Hypocalcemia, autosomal dominant##AD:Hypocalcemia, autosomal dominant, with Bartter syndrome##AD:Hypocalciuric hypercalcemia, type I##AD:{?Epilepsy idiopathic generalized, susceptibility to, 8}	OMIM2024Q4	CASR
+601218_AR:Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	OMIM2024Q4	ADARB1
+601263_AD:Cardiofaciocutaneous syndrome 4	OMIM2024Q4	MAP2K2
+601282_AR:?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive##AD:Epidermolysis bullosa simplex 5A, Ogna type##AR:Epidermolysis bullosa simplex 5B, with muscular dystrophy##AR:Epidermolysis bullosa simplex 5C, with pyloric atresia##AR:Muscular dystrophy, limb-girdle, autosomal recessive 17	OMIM2024Q4	PLEC
+601314_AR:Neuromyotonia and axonal neuropathy, autosomal recessive	OMIM2024Q4	HINT1
+601330_AD:Diarrhea 6##AR:Meconium ileus	OMIM2024Q4	GUCY2C
+601395_.:{HIV/AIDS, susceptibility to}	OMIM2024Q4	CCL3L1
+601443_AR:Nemaline myopathy 7, autosomal recessive	OMIM2024Q4	CFL2
+601461_AD:?Deafness, autosomal dominant 89	OMIM2024Q4	ATOH1
+601471_AD:Facial paresis, hereditary congenital, 1	OMIM2024Q4	MBS2
+601486_.:{Spermatogenic failure, susceptibility to}	OMIM2024Q4	DAZL
+601498_AR:Heimler syndrome 2##AR:Peroxisome biogenesis disorder 4A (Zellweger)##AD/AR:Peroxisome biogenesis disorder 4B	OMIM2024Q4	PEX6
+601542_AD:Anterior segment dysgenesis 4##AD:Axenfeld-Rieger syndrome, type 1##AD:Ring dermoid of cornea	OMIM2024Q4	PITX2
+601593_AD/SMu:{Breast cancer, susceptibility to}	OMIM2024Q4	BARD1
+601618_AR:Hypotrichosis-lymphedema-telangiectasia syndrome##AD:Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	OMIM2024Q4	SOX18
+601663_AD:?Ovarian dysgenesis 8	OMIM2024Q4	ESR2
+271250_AR:Spinocerebellar ataxia, autosomal recessive 3	OMIM2024Q4	SCAR3
+300008_XLR:Dent disease 1##XLR:Hypophosphatemic rickets##XLR:Nephrolithiasis, type I##XLR:Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	OMIM2024Q4	CLCN5
+300039_XLR:Deafness, X-linked 2	OMIM2024Q4	POU3F4
+300075_XLD:Coffin-Lowry syndrome##XLD:Intellectual developmental disorder, X-linked 19	OMIM2024Q4	RPS6KA3
+300076_XLD:Woods-Black-Norbury syndrome	OMIM2024Q4	INDX
+300085_XL:Cone dystrophy, progressive X-linked, 2	OMIM2024Q4	COD2
+300105_XLR:Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type	OMIM2024Q4	SMS
+300125_XL:{Migraine, familial typical, susceptibility to, 2}	OMIM2024Q4	MGR2
+300157_XLD:Intellectual developmental disorder, X-linked 63	OMIM2024Q4	ACSL4
+300218_XL:Intellectual developmental disorder, X-linked syndromic 7	OMIM2024Q4	MRXS7
+300264_XLD:Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	OMIM2024Q4	UBQLN2
+300266_XLR:Spastic paraplegia 16, X-linked, complicated	OMIM2024Q4	SPG16
+300350_XLR:Megalocornea 1, X-linked	OMIM2024Q4	CHRDL1
+300378_.:Radial ray deficiency	OMIM2024Q4	RRDX
+300429_XL:Developmental and epileptic encephalopathy 8	OMIM2024Q4	ARHGEF9
+300485_XLD:Microphthalmia, syndromic 2	OMIM2024Q4	BCOR
+300499_XLR:Intellectual developmental disorder, X-linked 9	OMIM2024Q4	FTSJ1
+300502_XLD:Pyruvate dehydrogenase E1-alpha deficiency	OMIM2024Q4	PDHA1
+300538_XLR:Diabetes insipidus, nephrogenic, 1##XLR:Nephrogenic syndrome of inappropriate antidiuresis	OMIM2024Q4	AVPR2
+300550_XLD:Hypophosphatemic rickets, X-linked dominant	OMIM2024Q4	PHEX
+300652_XLD:Angio serpiginosum	OMIM2024Q4	AGSPX
+300703_XLR:Spinocerebellar ataxia, X-linked 5	OMIM2024Q4	SCAX5
+300708_XLD:STAR syndrome	OMIM2024Q4	CCNQ
+300711_.:Pyloric stenosis, infantile hypertrophic, 4	OMIM2024Q4	IHPS4
+300798_XLR:Glycogen storage disease, type IXa1##XLR:Glycogen storage disease, type IXa2	OMIM2024Q4	PHKA2
+607632_AD:Acne inversa, familial, 2, with or without Dowling-Degos disease	OMIM2024Q4	PSENEN
+607647_AR:Diarrhea 10, protein-losing enteropathy type	OMIM2024Q4	PLVAP
+607693_AR:Thyroid hormone metabolism, abnormal, 1	OMIM2024Q4	SECISBP2
+607707_AD:Intellectual developmental disorder, autosomal dominant 54	OMIM2024Q4	CAMK2B
+607709_AR:Cholestasis, progressive familial intrahepatic 4##AR:Hypercholanemia, familial 1	OMIM2024Q4	TJP2
+607764_AR:Bile acid synthesis defect, congenital, 1	OMIM2024Q4	HSD3B7
+607783_AR:Osteogenesis imperfecta, type XX	OMIM2024Q4	MESD
+607809_AR:Alpha-methylacetoacetic aciduria	OMIM2024Q4	ACAT1
+607818_.:{Nephrolithiasis, uric acid, susceptibility to}	OMIM2024Q4	ZNF365
+607838_AR:Mucolipidosis III gamma	OMIM2024Q4	GNPTG
+607840_AR:Mucolipidosis II alpha/beta##AR:Mucolipidosis III alpha/beta	OMIM2024Q4	GNPTAB
+607878_AR:Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	OMIM2024Q4	NNT
+607892_AR:Hypotrichosis 6	OMIM2024Q4	DSG4
+607967_.:{Systemic lupus erythematosus with nephritis, susceptibility to, 3}	OMIM2024Q4	SLEN3
+607984_AD:Hypogonadotropic hypogonadism 17 with or without anosmia	OMIM2024Q4	SPRY4
+608006_AR:Cardiomyopathy, dilated, 2G	OMIM2024Q4	LMOD2
+608010_.:[Ezetimibe, nonresponse to]##.:[Low density lipoprotein cholesterol level QTL 7]	OMIM2024Q4	NPC1L1
+608036_AD:{Diabetes mellitus, noninsulin-dependent}	OMIM2024Q4	NIDDM4
+608078_AD:{Schizophrenia}	OMIM2024Q4	SCZD11
+608088_AD:Neuropathy, hereditary sensory, type IB	OMIM2024Q4	HSN1B
+608109_AR:Myopathy, lactic acidosis, and sideroblastic anemia 1	OMIM2024Q4	PUS1
+608148_AD:Glass syndrome	OMIM2024Q4	SATB2
+608173_.:{Autoimmune thyroid disease, susceptibility to, 1}	OMIM2024Q4	AITD1
+608181_AR:Mast syndrome	OMIM2024Q4	SPG21
+608270_AR:Suleiman-El-Hattab syndrome	OMIM2024Q4	TASP1
+608296_AR:Thauvin-Robinet-Faivre syndrome	OMIM2024Q4	FIBP
+608370_AD:?Deafness, autosomal dominant 79	OMIM2024Q4	SCD5
+608441_AR:Arthrogryposis multiplex congenita 3, myogenic type##AD:Emery-Dreifuss muscular dystrophy 4, autosomal dominant##AR:Spinocerebellar ataxia, autosomal recessive 8	OMIM2024Q4	SYNE1
+608445_.:{Speech-sound disorder}	OMIM2024Q4	SSD
+608462_.:{Hirschsprung disease, susceptibility to, 8}	OMIM2024Q4	HSCR8
+608488_AR:Microphthalmia with limb anomalies	OMIM2024Q4	SMOC1
+608512_AR:Chronic granulomatous disease 1, autosomal recessive	OMIM2024Q4	NCF1
+608520_.:Major depressive disorder 1	OMIM2024Q4	MDD1
+608533_AD:Neuronopathy, distal hereditary motor, autosomal dominant 6	OMIM2024Q4	FBXO38
+608549_AR:?Dystonia 32##AR:Leukodystrophy, hypomyelinating, 12	OMIM2024Q4	VPS11
+608560_AR:[Hyperferritinemia]	OMIM2024Q4	STAB1
+608583_AD:Atrial fibrillation, familial, 1	OMIM2024Q4	ATFB1
+608603_AR:Lethal congenital contracture syndrome 11	OMIM2024Q4	GLDN
+608605_AR:Congenital disorder of glycosylation, type Ix	OMIM2024Q4	STT3B
+608625_AR:Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	OMIM2024Q4	PTRH2
+608658_.:{Prostate cancer, susceptibility to, 4}	OMIM2024Q4	HPC4
+608669_AD:Lower urinary tract obstruction, congenital	OMIM2024Q4	BNC2
+604330_AR:Deafness, autosomal recessive 114	OMIM2024Q4	GRAP
+604346_AR:Rafiq syndrome	OMIM2024Q4	MAN1B1
+604365_AD/AR:Cone-rod dystrophy 12##AD:Macular dystrophy, retinal, 2##AR:Retinitis pigmentosa 41##AD:Stargardt disease 4	OMIM2024Q4	PROM1
+604366_AR:Ciliary dyskinesia, primary, 1, with or without situs inversus	OMIM2024Q4	DNAI1
+604392_AD/AR:Cone-rod dystrophy##AD/AR:Leber congenital amaurosis 4##AD/AR:Retinitis pigmentosa, juvenile	OMIM2024Q4	AIPL1
+604447_AR:Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia##AR:Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	OMIM2024Q4	GNB5
+604473_AD:Spinocerebellar ataxia 44##AR:Spinocerebellar ataxia, autosomal recessive 13	OMIM2024Q4	GRM1
+604500_AR:PEHO syndrome	OMIM2024Q4	ZNHIT3
+604554_AR:Premature ovarian failure 19	OMIM2024Q4	HSF2BP
+604556_AD:Abdominal obesity-metabolic syndrome 3	OMIM2024Q4	DYRK1B
+604577_AR:Muscular dystrophy, limb-girdle, autosomal recessive 25	OMIM2024Q4	POPDC1
+604588_AR:?Orofaciodigital syndrome II##AR/DR:Short-rib thoracic dysplasia 6 with or without polydactyly##AD:{Amyotrophic lateral sclerosis, susceptibility to, 24}	OMIM2024Q4	NEK1
+604616_AD:Intellectual developmental disorder with autism and speech delay	OMIM2024Q4	TBR1
+604714_AR:Sudden infant death with dysgenesis of the testes syndrome	OMIM2024Q4	TSPYL1
+604734_AR:Periodic fever, immunodeficiency, and thrombocytopenia syndrome	OMIM2024Q4	WDR1
+604759_AD:Pregnancy loss, recurrent, 4##AD:Spermatogenic failure 4	OMIM2024Q4	SYCP3
+604769_AD:Corneal dystrophy, punctiform and polychromatic pre-Descemet##AR:Spinocerebellar ataxia, autosomal recessive 32	OMIM2024Q4	PRDX3
+604780_AR:Chanarin-Dorfman syndrome	OMIM2024Q4	ABHD5
+604802_AR:Huntington disease-like 3	OMIM2024Q4	HDL3
+604839_AR:Spermatogenic failure 77	OMIM2024Q4	FKBP6
+604858_AR:?Neutropenia, severe congenital, 10, autosomal recessive	OMIM2024Q4	SRP68
+604912_AR:Intellectual developmental disorder, autosomal recessive 40	OMIM2024Q4	TAF2
+604965_AR:T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations	OMIM2024Q4	STK4
+604980_AR:Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive	OMIM2024Q4	RACGAP1
+605022_AD:?Knobloch syndrome 2	OMIM2024Q4	PAK2
+605032_AR:Developmental and epileptic encephalopathy 63	OMIM2024Q4	CPLX1
+605101_AD:Congenital heart defects, nonsyndromic, 2	OMIM2024Q4	TAB2
+605109_AR:Macrocephaly, dysmorphic facies, and psychomotor retardation	OMIM2024Q4	HERC1
+605113_AR:Hyperlysinemia	OMIM2024Q4	AASS
+605204_AR:Arthrogryposis multiplex congenita 5##AD:Dystonia-1, torsion##.:{Dystonia-1, modifier of}	OMIM2024Q4	TOR1A
+605207_.:Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	OMIM2024Q4	CYP26B1
+605237_AD:Basal ganglia calcification, idiopathic, 6	OMIM2024Q4	XPR1
+605238_AR:Intellectual developmental disorder, autosomal recessive 51##AD:{Asthma, susceptibility to}	OMIM2024Q4	HNMT
+605290_AR:?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)##AR:Behr syndrome##AD:Optic atrophy 1##AD:Optic atrophy plus syndrome##.:{Glaucoma, normal tension, susceptibility to}	OMIM2024Q4	OPA1
+605293_.:Optic atrophy 4	OMIM2024Q4	OPA4
+601691_AR:Cone-rod dystrophy 3##AR:Fundus flavimaculatus##AR:Retinal dystrophy, early-onset severe##AR:Retinitis pigmentosa 19##AR:Stargardt disease 1##AD:{Macular degeneration, age-related, 2}	OMIM2024Q4	ABCA4
+601699_Mu:Hypertension, essential	OMIM2024Q4	PTGIS
+601717_AR:Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease	OMIM2024Q4	STXBP2
+601728_AD:Cowden syndrome 1##AD:Lhermitte-Duclos disease##AD:Macrocephaly/autism syndrome##.:Prostate cancer, somatic##AD:{Glioma susceptibility 2}##AD:{Meningioma}	OMIM2024Q4	PTEN
+601730_AR:Glycosylphosphatidylinositol biosynthesis defect 16	OMIM2024Q4	PIGC
+601736_AR:Specific granule deficiency 2	OMIM2024Q4	SMARCD2
+601778_AD/AR:Combined oxidative phosphorylation deficiency 55	OMIM2024Q4	POLRMT
+601791_AR:Peroxisome biogenesis disorder 13A (Zellweger)	OMIM2024Q4	PEX14
+601810_AD:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6##AR:Rothmund-Thomson syndrome, type 4##AR:Seckel syndrome 8	OMIM2024Q4	DNA2
+601844_AD:Pseudohypoaldosteronism, type IIB	OMIM2024Q4	WNK4
+601863_AR:?MHC class II deficiency 5##AR:MHC class II deficiency 3	OMIM2024Q4	RFX5
+601897_AD:Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	OMIM2024Q4	ZNF148
+601906_AR:Split-hand/foot malformation 6##AD:Tooth agenesis, selective, 8	OMIM2024Q4	WNT10B
+601920_AD:?Deafness, congenital heart defects, and posterior embryotoxon##AD:Alagille syndrome 1##AD:Charcot-Marie-Tooth disease, axonal, type 2HH##AD:Tetralogy of Fallot	OMIM2024Q4	JAG1
+601978_AR:?Amyotrophic lateral sclerosis 16, juvenile##AR:?Neuronopathy, distal hereditary motor, autosomal recessive 2	OMIM2024Q4	SIGMAR1
+602024_DR:Bartter syndrome, type 4b, digenic	OMIM2024Q4	CLCNKA
+602026_AR:Refsum disease	OMIM2024Q4	PHYH
+602054_.:Conotruncal anomaly face syndrome##AD:DiGeorge syndrome##AD:Tetralogy of Fallot##AD:Velocardiofacial syndrome	OMIM2024Q4	TBX1
+602085_AD:Postaxial polydactyly, type A2	OMIM2024Q4	PAPA2
+602096_AD:Alzheimer disease-5	OMIM2024Q4	AD5
+602097_AR:Usher syndrome, type 1E	OMIM2024Q4	USH1E
+602149_AD:Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	OMIM2024Q4	PITX1
+602166_AR:Developmental and epileptic encephalopathy 48	OMIM2024Q4	AP3B2
+602201_AR:Urbach-Wiethe disease	OMIM2024Q4	ECM1
+602216_.:Melanoma, malignant, somatic##.:Pancreatic cancer, somatic##AD:Peutz-Jeghers syndrome##.:Testicular tumor, somatic	OMIM2024Q4	STK11
+602241_AR:Combined oxidative phosphorylation deficiency 31	OMIM2024Q4	MIPEP
+602279_AD:Oculopharyngeal muscular dystrophy	OMIM2024Q4	PABPN1
+602293_AR:{Epidermodysplasia verruciformis, susceptibility to, 3}	OMIM2024Q4	CIB1
+602346_AR:Hypomyelinating neuropathy, congenital, 3##AR:Lethal congenital contracture syndrome 7	OMIM2024Q4	CNTNAP1
+602357_AR:Wiskott-Aldrich syndrome 2	OMIM2024Q4	WIPF1
+602382_AR:Cardiac valvular dysplasia 1	OMIM2024Q4	PLD1
+602397_AR:Cholestasis, benign recurrent intrahepatic##AD:Cholestasis, intrahepatic, of pregnancy, 1##AR:Cholestasis, progressive familial intrahepatic 1	OMIM2024Q4	ATP8B1
+602412_AD:Diamond-blackfan anemia 3	OMIM2024Q4	RPS24
+602413_AD/IC:Gastrointestinal stromal tumor##.:Paraganglioma and gastric stromal sarcoma##AD:Pheochromocytoma/paraganglioma syndrome 3	OMIM2024Q4	SDHC
+602429_.:Glaucoma 1D, primary open angle	OMIM2024Q4	GLC1D
+602441_.:{Bacteremia, susceptibility to}##.:{Malaria, susceptibility to}##.:{Tuberculosis, susceptibility to}	OMIM2024Q4	CISH
+602606_AD/AR/Mu:{?Obesity, susceptibility to}	OMIM2024Q4	CARTPT
+602616_AR:Congenital disorder of glycosylation, type IIa	OMIM2024Q4	MGAT2
+602730_.:Heterotaxy, visceral, 4, autosomal	OMIM2024Q4	ACVR2B
+300822_XLR:Blue cone monochromacy##XL:Colorblindness, protan	OMIM2024Q4	OPN1LW
+300836_XLR:Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	OMIM2024Q4	ANOS1
+300841_XLR:Hemophilia A##.:Thrombophilia 13, X-linked, due to factor VIII defect	OMIM2024Q4	F8
+300859_XLR:Ritscher-Schinzel syndrome 2	OMIM2024Q4	CCDC22
+300885_XLD:Linear skin defects with multiple congenital anomalies 2	OMIM2024Q4	COX7B
+300897_XLR:Wieacker-Wolff syndrome##XLD:Wieacker-Wolff syndrome, female-restricted	OMIM2024Q4	ZC4H2
+300933_XLR:Ciliary dyskinesia, primary, 36, X-linked	OMIM2024Q4	DNAAF6
+300964_XLR:Wilson-Turner syndrome	OMIM2024Q4	LAS1L
+305435_XL:Fetal hemoglobin quantitative trait locus 3	OMIM2024Q4	FCP1
+305660_XL:Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features	OMIM2024Q4	GABRA3
+308000_XLR:Hyperuricemia, HRPT-related##XLR:Lesch-Nyhan syndrome	OMIM2024Q4	HPRT1
+308840_XLR:?Corpus callosum, partial agenesis of##XLR:Hydrocephalus, congenital, X-linked##XLR:MASA syndrome	OMIM2024Q4	L1CAM
+314690_XLR:Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type	OMIM2024Q4	KDM5C
+400005_YL:Spermatogenic failure, Y-linked, 2	OMIM2024Q4	USP9Y
+600007_AR:?Immunodeficiency 125	OMIM2024Q4	FLT3LG
+600131_AD:Epilepsy, childhood absence, 1	OMIM2024Q4	ECA1
+600147_AR:Klippel-Feil syndrome 2	OMIM2024Q4	MEOX1
+600170_.:[Blood group GIL]	OMIM2024Q4	AQP3
+608700_AR:Leber congenital amaurosis 9##AR:Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	OMIM2024Q4	NMNAT1
+608710_.:Granulomatosis with polyangiitis	OMIM2024Q4	WG
+608723_AD:Developmental and epileptic encephalopathy 70	OMIM2024Q4	PHACTR1
+608760_AR:Spinocerebellar ataxia, autosomal recessive 31	OMIM2024Q4	ATG7
+608762_AR:{Epilepsy, idiopathic generalized, susceptibility to, 3}	OMIM2024Q4	EIG3
+608769_AR:Lacticacidemia due to PDX1 deficiency	OMIM2024Q4	PDHX
+608778_AD:Spermatogenic failure 11	OMIM2024Q4	KLHL10
+608797_AR:Hydatidiform mole, recurrent, 3	OMIM2024Q4	MEI1
+608894_AR:Joubert syndrome 3	OMIM2024Q4	AHI1
+608922_AR:Joubert syndrome 8	OMIM2024Q4	ARL13B
+608995_AD/Mu:{Dyslexia, susceptibility to, 8}	OMIM2024Q4	DYX8
+609007_AD:{Parkinson disease 8}	OMIM2024Q4	LRRK2
+609010_AR:3-Methylcrotonyl-CoA carboxylase 1 deficiency	OMIM2024Q4	MCCC1
+609139_AD:?Neuronopathy, distal hereditary motor, autosomal dominant 12##AR:Neuronopathy, distal hereditary motor, autosomal recessive 6##AD:Spastic paraplegia 31, autosomal dominant	OMIM2024Q4	REEP1
+609145_AR:Neurodevelopmental disorder with central and peripheral motor dysfunction	OMIM2024Q4	NFASC
+609186_AR:D-2-hydroxyglutaric aciduria	OMIM2024Q4	D2HGDH
+609209_AD:Immunodeficiency 70	OMIM2024Q4	IVNS1ABP
+609225_AR:?Intellectual developmental disorder with short stature and variable skeletal anomalies	OMIM2024Q4	WIPI2
+609226_AR:Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	OMIM2024Q4	WDR45B
+609256_Mu:Myopia 7	OMIM2024Q4	MYP7
+609279_AR:?Seckel syndrome 4##AR:Microcephaly 6, primary, autosomal recessive	OMIM2024Q4	CPAP
+609300_AR:17,20-lyase deficiency, isolated##AR:17-alpha-hydroxylase/17,20-lyase deficiency	OMIM2024Q4	CYP17A1
+609309_AD:Lynch syndrome 1##AR:Mismatch repair cancer syndrome 2##AD:Muir-Torre syndrome	OMIM2024Q4	MSH2
+609317_AR:?Anencephaly 1	OMIM2024Q4	TRIM36
+609320_.:[Hematocrit/hemoglobin quantitative trait locus 2]	OMIM2024Q4	HCHGQ2
+609332_AR:Gastrointestinal defects and immunodeficiency syndrome	OMIM2024Q4	TTC7A
+609386_AR:Atelis syndrome 2	OMIM2024Q4	SMC5
+609400_.:{Autoimmune disease, susceptibility to, 4}	OMIM2024Q4	AIS4
+609412_AR:Cockayne syndrome, type A##AR:UV-sensitive syndrome 2	OMIM2024Q4	ERCC8
+609427_AR:Deafness, autosomal recessive 67	OMIM2024Q4	LHFPL5
+609507_AD:Retinitis pigmentosa 31	OMIM2024Q4	TOPORS
+609511_AR:Kariminejad-Reversade neurodevelopmental syndrome##AR:Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	OMIM2024Q4	RBSN
+609530_AD:?Epilepsy, familial adult myoclonic, 7	OMIM2024Q4	RAPGEF2
+609572_.:Photoparoxysmal response 2	OMIM2024Q4	PPR2
+609633_.:{Major affective disorder 3, early onset}	OMIM2024Q4	MAFD3
+609647_AR:Deafness, autosomal recessive 46	OMIM2024Q4	DFNB46
+609683_AR:Dyskeratosis congenita, autosomal recessive 8	OMIM2024Q4	DCLRE1B
+605356_AD:Developmental and epileptic encephalopathy 56	OMIM2024Q4	YWHAG
+605393_AR:Intellectual developmental disorder, autosomal recessive 65	OMIM2024Q4	KDM5B
+605420_AR:Frontonasal dysplasia 2##AD:Parietal foramina 2##AD:{Craniosynostosis 5, susceptibility to}	OMIM2024Q4	ALX4
+605427_AD:?Avascular necrosis of femoral head, primary, 2##AD:Brachyolmia type 3##AD:Digital arthropathy-brachydactyly, familial##AD:Hereditary motor and sensory neuropathy, type IIc##AD:Metatropic dysplasia##AD:Neuronopathy, distal hereditary motor, autosomal dominant 8##AD:Parastremmatic dwarfism##AD:SED, Maroteaux type##AD:Scapuloperoneal spinal muscular atrophy##AD:Spondylometaphyseal dysplasia, Kozlowski type##.:[Sodium serum level QTL 1]	OMIM2024Q4	TRPV4
+605515_AD:Intellectual developmental disorder with language impairment with or without autistic features	OMIM2024Q4	FOXP1
+605525_AR:Meier-Gorlin syndrome 4	OMIM2024Q4	CDT1
+605573_AR:Pseudohermaphroditism, male, with gynecomastia	OMIM2024Q4	HSD17B3
+605577_AR:?Bleeding disorder, platelet-type, 18	OMIM2024Q4	RASGRP2
+605591_AD:Craniofacial microsomia	OMIM2024Q4	SF3B2
+605609_AR:Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	OMIM2024Q4	OXR1
+605622_AR:Diencephalic-mesencephalic junction dysplasia syndrome 1	OMIM2024Q4	PCDH12
+605677_AR:?Diarrhea 13	OMIM2024Q4	ACSL5
+605717_AR:?Immunodeficiency 119	OMIM2024Q4	ICOSLG
+605740_AD:Craniodiaphyseal dysplasia, autosomal dominant##AR:Sclerosteosis 1	OMIM2024Q4	SOST
+605753_AR:?Spermatogenic failure 29	OMIM2024Q4	SPINK2
+605792_AR:Spermatogenic failure 23	OMIM2024Q4	TEX14
+605799_AR:Imerslund-Grasbeck syndrome 2	OMIM2024Q4	AMN
+605802_AD:Mowat-Wilson syndrome	OMIM2024Q4	ZEB2
+605907_AR:Congenital disorder of glycosylation, type Ik	OMIM2024Q4	ALG1
+605910_AD:Plasma triglyceride level QTL, low	OMIM2024Q4	ANGPTL4
+605950_AR:Smith-McCort dysplasia 2	OMIM2024Q4	RAB33B
+605995_AD:Charcot-Marie-Tooth disease, type 2A1##AD/SMu:{Neuroblastoma, susceptibility to, 1}	OMIM2024Q4	KIF1B
+606007_AR:Leukodystrophy, hypomyelinating, 21	OMIM2024Q4	POLR3K
+606048_AR:Intellectual developmental disorder, autosomal recessive 57	OMIM2024Q4	MBOAT7
+606060_AR:Hyperphenylalaninemia, mild, non-BH4-deficient	OMIM2024Q4	DNAJC12
+606100_AD:Vibratory urticaria	OMIM2024Q4	ADGRE2
+606127_AD:Megabladder, congenital	OMIM2024Q4	MYOCD
+606129_.:Diamond-Blackfan anemia 2	OMIM2024Q4	DBA2
+606152_AR:Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)	OMIM2024Q4	SLC19A3
+606202_AR:Albinism, oculocutaneous, type IV##AR:[Skin/hair/eye pigmentation 5, black/nonblack hair]##AR:[Skin/hair/eye pigmentation 5, dark/fair skin]##AR:[Skin/hair/eye pigmentation 5, dark/light eyes]	OMIM2024Q4	SLC45A2
+606210_AR:Congenital myopathy 3 with rigid spine	OMIM2024Q4	SELENON
+606228_AD:Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	OMIM2024Q4	AGO1
+606241_.:GLOW syndrome, somatic mosaic##AD:Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors##AD:Pleuropulmonary blastoma##.:Rhabdomyosarcoma, embryonal, 2	OMIM2024Q4	DICER1
+606271_AD:Schizophrenia	OMIM2024Q4	DISC2
+602783_AD/AR:Spastic paraplegia 7, autosomal recessive	OMIM2024Q4	SPG7
+602833_AD:Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4	OMIM2024Q4	H4C9
+602835_AR:?Deafness, autosomal recessive 125	OMIM2024Q4	GAS2
+602859_AR:Peroxisome biogenesis disorder 6A (Zellweger)##AR:Peroxisome biogenesis disorder 6B	OMIM2024Q4	PEX10
+602876_AR:Pseudo-TORCH syndrome 1	OMIM2024Q4	OCLN
+602931_AD:Aortic valve disease 2##AD:{Craniosynostosis 7, susceptibility to}##AD:{Radioulnar synostosis, nonsyndromic}	OMIM2024Q4	SMAD6
+602956_AR:Fanconi anemia, complementation group G	OMIM2024Q4	FANCG
+602997_AR:Imerslund-Grasbeck syndrome 1##AR:[Proteinuria, chronic benign]	OMIM2024Q4	CUBN
+603009_AR:Miyoshi muscular dystrophy 1##AR:Muscular dystrophy, limb-girdle, autosomal recessive 2##AR:Myopathy, distal, with anterior tibial onset	OMIM2024Q4	DYSF
+603111_AD:Coffin-Siris syndrome 5##AD:{Meningioma, familial, susceptibility to}	OMIM2024Q4	SMARCE1
+603113_.:Lung cancer, somatic	OMIM2024Q4	PPP2R1B
+603123_AR:Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	OMIM2024Q4	DOCK3
+603176_AD:{Schizophrenia}	OMIM2024Q4	SCZD7
+603196_AR:?Deafness, autosomal recessive 110##AD:Deafness, autosomal dominant 9	OMIM2024Q4	COCH
+603267_AR:Oculogastrointestinal neurodevelopmental syndrome	OMIM2024Q4	CAPN15
+603294_AR:Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	OMIM2024Q4	MCM3AP
+603317_AD:Deafness, autosomal dominant 73##AR:Deafness, autosomal recessive 84A	OMIM2024Q4	PTPRQ
+603333_AR:Spermatogenic failure 45	OMIM2024Q4	DNAH2
+603349_AD:Erythrocytosis, familial, 4	OMIM2024Q4	EPAS1
+603370_AR:Developmental and epileptic encephalopathy 84	OMIM2024Q4	UGDH
+603371_AR:Congenital arthrogryposis with anterior horn cell disease##AR:Lethal congenital contracture syndrome 1	OMIM2024Q4	GLE1
+603395_AR:Ciliary dyskinesia, primary, 28	OMIM2024Q4	SPAG1
+603424_AR:Dystonia 16	OMIM2024Q4	PRKRA
+603448_AD:Spinocerebellar ataxia 37	OMIM2024Q4	DAB1
+603465_AR:Meier-Gorlin syndrome 7	OMIM2024Q4	CDC45
+603533_AD:Usmani-Riazuddin syndrome, autosomal dominant##AR:Usmani-Riazuddin syndrome, autosomal recessive	OMIM2024Q4	AP1G1
+603574_AR:Tumor predisposition syndrome 2##AD:{Uveal melanoma, susceptibility to, 1}	OMIM2024Q4	MBD4
+603615_.:Adenocarcinoma, colonic, somatic##.:Lymphoma, non-Hodgkin, somatic##AD/SMu:{Breast cancer, invasive ductal}	OMIM2024Q4	RAD54L
+603619_AD:Developmental and epileptic encephalopathy 109	OMIM2024Q4	FZR1
+603645_AR:?Combined oxidative phosphorylation deficiency 41	OMIM2024Q4	GATB
+603663_.:{Mental health wellness-1}	OMIM2024Q4	MHW1
+603711_AR:Bile acid synthesis defect, congenital, 3##AR:Spastic paraplegia 5A, autosomal recessive	OMIM2024Q4	CYP7B1
+603716_AD:Hyperparathyroidism 4##AD/AR:Hypoparathyroidism, familial isolated 2	OMIM2024Q4	GCM2
+600194_AD:Ichthyosis bullosa of Siemens	OMIM2024Q4	KRT2
+600206_AR:?Deafness, autosomal recessive 102	OMIM2024Q4	EPS8
+600209_AD:Exostoses, multiple, type 3	OMIM2024Q4	EXT3
+600229_AR:Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	OMIM2024Q4	SLC1A4
+600253_AR:?Retinitis pigmentosa 85##AR:Foveal hypoplasia 3	OMIM2024Q4	AHR
+600397_AD:Developmental and epileptic encephalopathy 26	OMIM2024Q4	KCNB1
+600442_AD:Palmoplantar keratoderma, Bothnian type	OMIM2024Q4	AQP5
+600450_AR:46XY sex reversal 8	OMIM2024Q4	AKR1C2
+600473_AD:Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties	OMIM2024Q4	PURA
+600502_AR:Charcot-Marie-Tooth disease, axonal, type 2S##AR:Neuronopathy, distal hereditary motor, autosomal recessive 1	OMIM2024Q4	IGHMBP2
+600515_AR:Bleeding disorder, platelet-type, 8	OMIM2024Q4	P2RY12
+600523_AR:Anemia, hypochromic microcytic, with iron overload 1	OMIM2024Q4	SLC11A2
+600577_AR:Pituitary hormone deficiency, combined, 3	OMIM2024Q4	LHX3
+600584_AD:Atrial septal defect 7, with or without AV conduction defects##.:Conotruncal heart malformations, variable##AD:Hypoplastic left heart syndrome 2##AD:Hypothyroidism, congenital nongoitrous, 5##AD:Tetralogy of Fallot##AD:Ventricular septal defect 3	OMIM2024Q4	NKX2-5
+600590_AD:Noonan syndrome-like disorder with loose anagen hair 2	OMIM2024Q4	PPP1CB
+600624_AD:Cone-rod retinal dystrophy-1	OMIM2024Q4	CORD1
+600650_AR:CPT II deficiency, infantile##AR:CPT II deficiency, lethal neonatal##AD/AR:CPT II deficiency, myopathic, stress-induced##AD/AR:{Encephalopathy, acute, infection-induced, 4, susceptibility to}	OMIM2024Q4	CPT2
+600662_AD:Chromosome 5q14.3 deletion syndrome##AD:Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	OMIM2024Q4	MEF2C
+600669_AD:{Epilepsy, idiopathic generalized, susceptibility to, 1}	OMIM2024Q4	EGI
+600709_AR:Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	OMIM2024Q4	IARS1
+600749_AR:?Immunodeficiency 108 with autoinflammation##AD/AR:Specific granule deficiency	OMIM2024Q4	CEBPE
+600778_AD:Multiple endocrine neoplasia, type IV	OMIM2024Q4	CDKN1B
+600808_AD:Enuresis, nocturnal, 2	OMIM2024Q4	ENUR2
+600820_AD:Short stature-micrognathia syndrome	OMIM2024Q4	ARCN1
+600884_AD:Cardiomyopathy, dilated 1B	OMIM2024Q4	CMD1B
+600936_AD/SMu:{Breast cancer, susceptibility to}	OMIM2024Q4	HMMR
+600958_AD:Cardiomyopathy, dilated, 1MM##AD/AR:Cardiomyopathy, hypertrophic, 4##AD:Left ventricular noncompaction 10	OMIM2024Q4	MYBPC3
+600960_AD:Intellectual developmental disorder, autosomal dominant 58	OMIM2024Q4	SET
+600982_AD:46XY sex reversal 6	OMIM2024Q4	MAP3K1
+601015_AR:Niemann-pick disease, type C2	OMIM2024Q4	NPC2
+601047_AR:Lipodystrophy, congenital generalized, type 3##AD:Lipodystrophy, familial partial, type 7##AD:Pulmonary hypertension, primary, 3	OMIM2024Q4	CAV1
+601058_AD:Bryant-Li-Bhoj neurodevelopmental syndrome 2	OMIM2024Q4	H3-3B
+601149_AR:Retinitis pigmentosa 90	OMIM2024Q4	IDH3A
+601190_AD/AR:Achromatopsia 6##AD/AR:Retinal cone dystrophy 3	OMIM2024Q4	PDE6H
+601248_AR:Centronuclear myopathy 2	OMIM2024Q4	BIN1
+601265_AD:Heterotaxy, visceral, 5	OMIM2024Q4	NODAL
+601266_AR:Bone marrow failure and diabetes mellitus syndrome	OMIM2024Q4	DUT
+609800_AD:Generalized epilepsy with febrile seizures plus, type 4	OMIM2024Q4	GEFSP4
+609840_AR:Amelogenesis imperfecta, type IIA5##AR:[Skin/hair/eye pigmentation 6, blond/brown hair]##AR:[Skin/hair/eye pigmentation 6, blue/green eyes]	OMIM2024Q4	SLC24A4
+609863_AR:Joubert syndrome 13	OMIM2024Q4	TCTN1
+609876_.:[Bone mineral density QTL 6]	OMIM2024Q4	BMND6
+609905_AR:?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	OMIM2024Q4	MYL9
+609937_AR:Immunodeficiency-centromeric instability-facial anomalies syndrome 3	OMIM2024Q4	CDCA7
+610008_AR:Usher syndrome, type IV	OMIM2024Q4	ARSG
+610034_AR:Mucopolysaccharidosis-plus syndrome	OMIM2024Q4	VPS33A
+610036_AR:Hypomagnesemia 5, renal, with ocular involvement	OMIM2024Q4	CLDN19
+610053_AR:Microcephaly and chorioretinopathy, autosomal recessive, 1	OMIM2024Q4	TUBGCP6
+610061_AR:Ciliary dyskinesia, primary, 50	OMIM2024Q4	DNAH7
+610098_AR:Ovarian dysgenesis 4	OMIM2024Q4	MCM9
+610114_.:{Stature QTL 8}	OMIM2024Q4	STQTL8
+610141_.:[QT interval, variation in]	OMIM2024Q4	QTV
+610143_AR:Deafness, autosomal recessive 62	OMIM2024Q4	DFNB62
+610150_AR:?Neuropathy, hereditary sensory, with spastic paraplegia	OMIM2024Q4	CCT5
+610170_.:Kyphoscoliosis 1	OMIM2024Q4	KYPSC1
+610213_.:Aneurysm, intracranial berry, 4	OMIM2024Q4	ANIB4
+610224_AR:Ovarian dysgenesis 5##AD:Spermatogenic failure 32	OMIM2024Q4	SOHLH1
+610226_.:?Seborrhea-like dermatitis with psoriasiform elements	OMIM2024Q4	ZNF750
+610247_Mu:{Esophagitis, eosinophilic, 1}	OMIM2024Q4	EOE1
+610273_AR:Glycosylphosphatidylinositol deficiency	OMIM2024Q4	PIGM
+610294_.:{Intelligence QTL3}	OMIM2024Q4	INTLQ3
+610355_.:Fanconi anemia, complementation group N##AD:{Breast-ovarian cancer, familial, susceptibility to, 5}##AD:{Pancreatic cancer, susceptibility to, 3}	OMIM2024Q4	PALB2
+610363_AR:Oocyte/zygote/embryo maturation arrest 16	OMIM2024Q4	PADI6
+610436_AR:Microcephaly, short stature, and polymicrogyria with seizures	OMIM2024Q4	RTTN
+610456_AD:MIRAGE syndrome##AD:Monosomy 7 myelodysplasia and leukemia syndrome 2##AR:Tumoral calcinosis, familial, normophosphatemic	OMIM2024Q4	SAMD9
+610516_AR:D-glyceric aciduria	OMIM2024Q4	GLYCTK
+610531_AR:Leukodystrophy, hypomyelinating, 5	OMIM2024Q4	HYCC1
+610594_AR:Immunodeficiency 93 and hypertrophic cardiomyopathy	OMIM2024Q4	FNIP1
+606411_AR:Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	OMIM2024Q4	SLC13A3
+606412_AR:Bartter syndrome, type 4a##AR:Sensorineural deafness with mild renal dysfunction	OMIM2024Q4	BSND
+606416_AD:CINCA syndrome##AD:Deafness, autosomal dominant 34, with or without inflammation##AD:Familial cold inflammatory syndrome 1##AD:Keratoendothelitis fugax hereditaria##AD:Muckle-Wells syndrome	OMIM2024Q4	NLRP3
+606451_AD:Deafness, autosomal dominant 30	OMIM2024Q4	DFNA30
+606453_AR:Immunodeficiency, common variable, 8, with autoimmunity	OMIM2024Q4	LRBA
+606523_AD/SMu:{Thyroid cancer, nonmedullary, 2}	OMIM2024Q4	SRGAP1
+606543_AD:?Auriculocondylar syndrome 4	OMIM2024Q4	HDAC9
+606582_AD:Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	OMIM2024Q4	DLL1
+606584_AR:Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	OMIM2024Q4	PTPN23
+606616_.:{Dyslexia, susceptibility to, 6}	OMIM2024Q4	DYX6
+606636_AR:?Respiratory papillomatosis, juvenile recurrent, congenital##AD/AR:Autoinflammation with arthritis and dyskeratosis##AD:Palmoplantar carcinoma, multiple self-healing##.:{Vitiligo-associated multiple autoimmune disease susceptibility 1}	OMIM2024Q4	NLRP1
+606641_.:[Body mass index QTL1]	OMIM2024Q4	BMIQ1
+606666_AD:Delayed puberty, self-limited##AD:{Bone mineral density, low, susceptibility to}	OMIM2024Q4	LGR4
+606668_.:{Inflammatory bowel disease 8}	OMIM2024Q4	IBD8
+606673_AR:Beta-ureidopropionase deficiency	OMIM2024Q4	UPB1
+606686_AR:Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	OMIM2024Q4	EIF2B1
+606694_AR:?Atrial fibrillation 15	OMIM2024Q4	NUP155
+606709_AR:Intellectual developmental disorder, autosomal recessive 1	OMIM2024Q4	PRSS12
+606781_AR:Short stature, developmental delay, and congenital heart defects	OMIM2024Q4	TKT
+606810_AR:Hyperprolinemia, type I##AD:{Schizophrenia, susceptibility to, 4}	OMIM2024Q4	PRODH
+606837_.:Breast cancer, somatic	OMIM2024Q4	RB1CC1
+606857_AR:Anemia, congenital, nonspherocytic hemolytic, 7##.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	GCLC
+606869_AR:GM2-gangliosidosis, several forms##AR:Tay-Sachs disease##AR:[Hex A pseudodeficiency]	OMIM2024Q4	HEXA
+606879_AR:Neu-Laxova syndrome 1##AR:Phosphoglycerate dehydrogenase deficiency	OMIM2024Q4	PHGDH
+606887_AR:Sulfite oxidase deficiency	OMIM2024Q4	SUOX
+606934_AR:Mitochondrial complex I deficiency, nuclear type 11	OMIM2024Q4	NDUFAF1
+606940_AD:?Ptosis, congenital	OMIM2024Q4	ZFHX4
+606953_AR:Galactose epimerase deficiency##AR:Thrombocytopenia 13, syndromic	OMIM2024Q4	GALE
+606976_AR:Congenital disorder of glycosylation, type IIj##AD:Saul-Wilson syndrome	OMIM2024Q4	COG4
+606978_AR:Congenital disorder of glycosylation, type IIe	OMIM2024Q4	COG7
+606999_AR:Galactosemia	OMIM2024Q4	GALT
+607036_AR:Isovaleric acidemia	OMIM2024Q4	IVD
+607040_AD:[Axillary odor, variation in]##AD:[Colostrum secretion, variation in]##AD:[Earwax, wet/dry]	OMIM2024Q4	ABCC11
+607056_AD:Macular dystrophy, vitelliform, 5##AR:Retinitis pigmentosa 56	OMIM2024Q4	IMPG2
+607059_AR:Acrodermatitis enteropathica	OMIM2024Q4	SLC39A4
+607073_AR:?Auroneurodental syndrome	OMIM2024Q4	NAA80
+607118_AR:Combined oxidative phosphorylation deficiency 9	OMIM2024Q4	MRPL3
+607182_AR:Cataract 18, autosomal recessive	OMIM2024Q4	FYCO1
+607218_.:{Inflammatory bowel disease 14}##.:{Systemic lupus erythematosus, susceptibility to, 10}	OMIM2024Q4	IRF5
+607245_AR:Spastic paraplegia 47, autosomal recessive	OMIM2024Q4	AP4B1
+607246_AR:?Hermansky-Pudlak syndrome 10	OMIM2024Q4	AP3D1
+607258_.:Hypercalciuria, absorptive	OMIM2024Q4	HCA1
+607279_.:{Systemic lupus erythematosus with hemolytic anemia}	OMIM2024Q4	SLEH1
+603753_AR:Neurodevelopmental disorder with hypotonia and gross motor and speech delay	OMIM2024Q4	UBE4A
+603754_AD:Retinitis pigmentosa 89	OMIM2024Q4	KIF3B
+603769_.:Leukemia/lymphoma, T-cell	OMIM2024Q4	TCL1B
+603796_.:Atrial fibrillation, familial, 4##AD:Long QT syndrome 6	OMIM2024Q4	KCNE2
+603883_AD:Cardiomyopathy, dilated, 1HH##AD:Myopathy, myofibrillar, 6	OMIM2024Q4	BAG3
+603901_AR:?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	OMIM2024Q4	ZPR1
+603924_AD:{?Thyroid cancer, nonmedullary, 5}##AD:{Venous thromboembolism, susceptibility to}	OMIM2024Q4	HABP2
+603937_AD/AR:Retinitis pigmentosa 1	OMIM2024Q4	RP1
+603961_AD:{Hypogonadotropic hypogonadism 16 with or without anosmia}	OMIM2024Q4	SEMA3A
+604063_AR:Renal hypodysplasia/aplasia 1	OMIM2024Q4	ITGA8
+604134_AR:Thrombotic thrombocytopenic purpura, hereditary	OMIM2024Q4	ADAMTS13
+604142_AR:Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	OMIM2024Q4	TYROBP
+604188_AR:Extraoral halitosis due to MTO deficiency	OMIM2024Q4	SELENBP1
+604190_.:{Rheumatoid arthritis, susceptibility to}	OMIM2024Q4	SLC22A4
+604198_AD:Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	OMIM2024Q4	RAB11B
+604212_AR:Dyskeratosis congenita, autosomal recessive 6##AD:Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4	OMIM2024Q4	PARN
+604237_AR:Cold-induced sweating syndrome 1	OMIM2024Q4	CRLF1
+604254_.:{Dyslexia, susceptibility to, 3}	OMIM2024Q4	DYX3
+604283_AR:Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	OMIM2024Q4	PRG4
+604299_AD:{Maturity-onset diabetes of the young, type 14}	OMIM2024Q4	APPL1
+604319_AD:Dyskeratosis congenita, autosomal dominant 3##AD:Revesz syndrome	OMIM2024Q4	TINF2
+604332_AD/SMu:{Leukemia, acute myeloid}	OMIM2024Q4	CHIC2
+604373_.:Osteosarcoma, somatic##.:Prostate cancer, somatic##.:Tumor predisposition syndrome 4, breast/prostate/colorectal	OMIM2024Q4	CHEK2
+604383_AD/AR:Bleeding disorder, platelet-type, 17	OMIM2024Q4	GFI1B
+604402_AR:Salt and pepper developmental regression syndrome	OMIM2024Q4	ST3GAL5
+604487_AR:Deafness, autosomal recessive 18B	OMIM2024Q4	OTOG
+604506_AD:Intellectual developmental disorder, autosomal dominant 49	OMIM2024Q4	TRIP12
+604539_AR:Ehlers-Danlos syndrome, dermatosparaxis type	OMIM2024Q4	ADAMTS2
+604574_AR:Developmental and epileptic encephalopathy 37	OMIM2024Q4	FRRS1L
+604593_AD:Cortical dysplasia, complex, with other brain malformations 2	OMIM2024Q4	KIF5C
+604607_.:{Prostate cancer, hereditary, 9}	OMIM2024Q4	HOXB13
+604613_AD:Congenital anomalies of kidney and urinary tract 2	OMIM2024Q4	TBX18
+604619_AD:Epilepsy, familial temporal lobe, 1	OMIM2024Q4	LGI1
+604632_AR:Striatonigral degeneration, childhood-onset	OMIM2024Q4	VAC14
+601295_AR:?Bile acid malabsorption, primary, 1	OMIM2024Q4	SLC10A2
+601336_AR:Congenital disorder of glycosylation, type IIb	OMIM2024Q4	MOGS
+601405_AD:{Pancreatitis, chronic, susceptibility to}	OMIM2024Q4	CTRC
+601409_AD:Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	OMIM2024Q4	KAT5
+601416_AR:Agammaglobulinemia 9, autosomal recessive	OMIM2024Q4	SLC39A7
+601445_AR:?Mitochondrial complex I deficiency, nuclear type 24	OMIM2024Q4	NDUFB9
+601517_AD:Spinocerebellar ataxia 2##AD:{Amyotrophic lateral sclerosis, susceptibility to, 13}##AD/Mu:{Parkinson disease, late-onset, susceptibility to}	OMIM2024Q4	ATXN2
+601607_AD:Coffin-Siris syndrome 3##.:Rhabdoid tumors, somatic##AD:{Rhabdoid tumor predisposition syndrome 1}##AD:{Schwannomatosis-1, susceptibility to}	OMIM2024Q4	SMARCB1
+601615_AR:Surfactant metabolism dysfunction, pulmonary, 3	OMIM2024Q4	ABCA3
+601632_AD:Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	OMIM2024Q4	POU4F1
+601641_AR:Bile acid synthesis defect, congenital, 6	OMIM2024Q4	ACOX2
+601653_AD:?Otofaciocervical syndrome##AD:Anterior segment anomalies with or without cataract##AD:Branchiootic syndrome 1##AD:Branchiootorenal syndrome 1, with or without cataracts	OMIM2024Q4	EYA1
+601682_AD:Glaucoma 1C, primary open angle	OMIM2024Q4	GLC1C
+601697_AR:Peeling skin syndrome 5	OMIM2024Q4	SERPINB8
+601756_AR:Tumoral calcinosis, hyperphosphatemic, familial, 1	OMIM2024Q4	GALNT3
+601762_AD:Autoimmune lymphoproliferative syndrome, type II##.:Gastric cancer, somatic##.:Lymphoma, non-Hodgkin, somatic	OMIM2024Q4	CASP10
+601807_AD:Cavitary optic disc anomalies	OMIM2024Q4	MMP19
+601814_AD:Hypomagnesemia 2, renal	OMIM2024Q4	FXYD2
+601873_AR:Spastic paraplegia 26, autosomal recessive	OMIM2024Q4	B4GALNT1
+601881_AR:Microphthalmia, syndromic 16	OMIM2024Q4	RAX
+601898_AD/AR:Growth hormone deficiency, isolated partial	OMIM2024Q4	GHSR
+601992_AR:Friedreich ataxia 2	OMIM2024Q4	FRDA2
+602049_AR:?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia##AD:Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis##AD:Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia	OMIM2024Q4	RAC2
+602063_AR:Transaldolase deficiency	OMIM2024Q4	TALDO1
+602103_AR:Neurodevelopmental disorder with microcephaly, short stature, and speech delay	OMIM2024Q4	TRAPPC10
+602136_AR:Heimler syndrome 1##AR:Peroxisome biogenesis disorder 1A (Zellweger)##AR:Peroxisome biogenesis disorder 1B (NALD/IRD)	OMIM2024Q4	PEX1
+602138_AR:Mitochondrial complex I deficiency, nuclear type 33	OMIM2024Q4	NDUFA6
+602168_AR:Neuronopathy, distal hereditary motor, autosomal recessive 10##AR:Pontocerebellar hypoplasia type 1A	OMIM2024Q4	VRK1
+602221_AD:Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	OMIM2024Q4	ZMYM2
+602250_AR:Immunodeficiency 109 with lymphoproliferation	OMIM2024Q4	TNFRSF9
+602286_AR:Lathosterolosis	OMIM2024Q4	SC5D
+602290_AR:?Bardet-Biedl syndrome 11##AR:Muscular dystrophy, limb-girdle, autosomal recessive 8	OMIM2024Q4	TRIM32
+602296_AR:Spastic paraplegia 50, autosomal recessive	OMIM2024Q4	AP4M1
+602302_AR:Alopecia universalis##AR:Atrichia with papular lesions	OMIM2024Q4	HR
+602365_AR:Haim-Munk syndrome##AR:Papillon-Lefevre syndrome##AR:Periodontitis 1, juvenile	OMIM2024Q4	CTSC
+610621_AR:?Orofaciodigital syndrome XVII##AR:?Short-rib thoracic dysplasia 20 with polydactyly	OMIM2024Q4	INTU
+610655_AD:Telangiectasia, hereditary hemorrhagic, type 4	OMIM2024Q4	HHT4
+610676_.:{Autism susceptibility 7}	OMIM2024Q4	AUTS7
+610681_AR:Glycogen storage disease VII	OMIM2024Q4	PFKM
+610683_AR:Bardet-Biedl syndrome 12	OMIM2024Q4	BBS12
+610774_AR:Developmental and epileptic encephalopathy 60	OMIM2024Q4	CNPY3
+610836_.:{Autism susceptibility 11}	OMIM2024Q4	AUTS11
+610863_AD:Charcot-Marie-Tooth disease, dominant intermediate F	OMIM2024Q4	GNB4
+610912_AD:?Amelogenesis imperfecta, type IIIB	OMIM2024Q4	AMTN
+610933_AD/AR:Charcot-Marie-Tooth disease, axonal, type 2P	OMIM2024Q4	LRSAM1
+610971_AR:Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	OMIM2024Q4	TRAPPC4
+611023_AR:Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay	OMIM2024Q4	TRMT5
+611055_AD:Intellectual developmental disorder with seizures and language delay	OMIM2024Q4	SETD1B
+611061_AR:Raine syndrome	OMIM2024Q4	FAM20C
+611088_AR:Ciliary dyskinesia, primary, 27	OMIM2024Q4	CCDC65
+611109_.:[Cinnamon odor, pleasantness of]	OMIM2024Q4	CINN
+611119_AR:PERCHING syndrome##AD:Retinitis pigmentosa 42	OMIM2024Q4	KLHL7
+611123_AD:?Deafness, autosomal dominant 88	OMIM2024Q4	EPHA10
+611185_.:{Restless legs syndrome 6}	OMIM2024Q4	RLS6
+611204_AD:?Spinocerebellar ataxia 40##AR:Hydrocephalus, congenital, 1	OMIM2024Q4	CCDC88C
+611220_AD:?Cataract 43##AR:Myofibrillar myopathy 11	OMIM2024Q4	UNC45B
+611242_.:{Restless legs syndrome 5}	OMIM2024Q4	RLS5
+611290_AR:Immunodeficiency 124, severe combined##AR:Microphthalmia/coloboma 13	OMIM2024Q4	NHEJ1
+611317_AR:Ataxia-oculomotor apraxia 3	OMIM2024Q4	PIK3R5
+611381_.:{Kala-azar, susceptibility to, 2}	OMIM2024Q4	KAZA2
+611482_AD:?Hip dysplasia, Beukes type##AR:Developmental and epileptic encephalopathy 106##AD:Spondyloepimetaphyseal dysplasia, Di Rocco type	OMIM2024Q4	UFSP2
+611492_AR:Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	OMIM2024Q4	CA2
+611562_AD:Spermatogenic failure 10	OMIM2024Q4	SEPTIN12
+611565_AR:Alkuraya-Kucinskas syndrome	OMIM2024Q4	BLTP1
+611570_AR:Fructose-1,6-bisphosphatase deficiency	OMIM2024Q4	FBP1
+611572_AD:Otosclerosis 7	OMIM2024Q4	OTSC7
+611637_AD:Primary lateral sclerosis, adult, 1	OMIM2024Q4	PLSA1
+611695_AD:Spinocerebellar ataxia 11	OMIM2024Q4	TTBK2
+607347_AD:ROSAH syndrome	OMIM2024Q4	ALPK1
+607465_AR:Dyserythropoietic anemia, congenital, type Ia	OMIM2024Q4	CDAN1
+607492_AD:Schuurs-Hoeijmakers syndrome	OMIM2024Q4	PACS1
+607516_AD:{Migraine with or without aura, susceptibility to, 6}##AD:{Migraine, familial hemiplegic, 4}	OMIM2024Q4	MGR6
+607526_AD:?Diamond-Blackfan anemia 16	OMIM2024Q4	RPL27
+607566_AR:Myoclonic epilepsy of Lafora 1	OMIM2024Q4	EPM2A
+607575_AR:Sneddon syndrome##AR:Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	OMIM2024Q4	ADA2
+607601_AD/AR:{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}	OMIM2024Q4	TICAM1
+607608_AR:Niemann-Pick disease, type A##AR:Niemann-Pick disease, type B	OMIM2024Q4	SMPD1
+607620_AR:3MC syndrome 3	OMIM2024Q4	COLEC10
+607633_AR:Xanthinuria, type I	OMIM2024Q4	XDH
+607643_.:Retinitis pigmentosa 30	OMIM2024Q4	FSCN2
+607664_AR:Mucopolysaccharidosis type IIID	OMIM2024Q4	GNS
+607667_AD:Arrhythmogenic right ventricular dysplasia 13	OMIM2024Q4	CTNNA3
+607776_AD:Witteveen-Kolk syndrome	OMIM2024Q4	SIN3A
+607795_AD:Retinitis pigmentosa 70	OMIM2024Q4	PRPF4
+607839_AR:Glycogen storage disease IV##AR:Polyglucosan body disease, adult form	OMIM2024Q4	GBE1
+607853_.:Panic disorder 2	OMIM2024Q4	PAND2
+607860_AR:Grange syndrome	OMIM2024Q4	YY1AP1
+607861_AD:Townes-Brocks syndrome 2	OMIM2024Q4	DACT1
+607875_AR:Muscular dystrophy, congenital, with cataracts and intellectual disability	OMIM2024Q4	INPP5K
+607893_.:{Ovarian cancer, susceptibility to}	OMIM2024Q4	OVCAS1
+608000_AD:Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities	OMIM2024Q4	NAA15
+608034_AR:Canavan disease	OMIM2024Q4	ASPA
+608083_AR:Hyperlipoproteinemia, type Ib	OMIM2024Q4	APOC2
+608102_AR:Ceroid lipofuscinosis, neuronal, 5	OMIM2024Q4	CLN5
+608103_AR:Congenital disorder of glycosylation, type Ih##AD:Polycystic liver disease 3 with or without kidney cysts	OMIM2024Q4	ALG8
+608135_.:{Lumbar disc degeneration}##AD:{Osteoarthritis susceptibility 3}	OMIM2024Q4	ASPN
+608170_AD:{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}	OMIM2024Q4	DDX41
+608176_.:{Autoimmune thyroid disease, susceptibility to, 4}	OMIM2024Q4	AITD4
+608204_AR:{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}	OMIM2024Q4	UNC93B1
+608206_AR:Charcot-Marie-Tooth disease, type 4C##AD:Mononeuropathy of the median nerve, mild	OMIM2024Q4	SH3TC2
+608212_.:{Inflammatory bowel disease (Crohn disease) 19}##.:{Mycobacterium tuberculosis, protection against}	OMIM2024Q4	IRGM
+608214_AD:Atrial fibrillation, familial, 16##AD:Brugada syndrome 7	OMIM2024Q4	SCN3B
+608230_AD:Neurodevelopmental disorder with speech impairment and with or without seizures	OMIM2024Q4	CACNA1I
+608283_AD:Fibrosis of extraocular muscles, congenital, 1##AD:Fibrosis of extraocular muscles, congenital, 3B	OMIM2024Q4	KIF21A
+608372_AD:Deafness, autosomal dominant 49	OMIM2024Q4	DFNA49
+608374_AR:Hemochromatosis, type 2A	OMIM2024Q4	HJV
+608378_AR:Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	OMIM2024Q4	NEMF
+604766_AR:Nephrotic syndrome, type 2	OMIM2024Q4	NPHS2
+604889_AD:Neurodevelopmental disorder with or without early-onset generalized epilepsy	OMIM2024Q4	NBEA
+604895_AR:?Immunodeficiency 88##AR:Asthma and nasal polyps##AR:{Asthma, aspirin-induced, susceptibility to}	OMIM2024Q4	TBX21
+604933_AR:Adenomas, multiple colorectal##.:Gastric cancer, somatic	OMIM2024Q4	MUTYH
+604934_AR:Encephalopathy, progressive, with amyotrophy and optic atrophy##AR:Hypoparathyroidism-retardation-dysmorphism syndrome##AR:Kenny-Caffey syndrome, type 1	OMIM2024Q4	TBCE
+604975_AD:Lamb-Shaffer syndrome	OMIM2024Q4	SOX5
+605012_AD:Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	OMIM2024Q4	SUPT16H
+605044_AR:Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	OMIM2024Q4	MED27
+605083_Mu:{Osteoarthritis susceptibility 1}	OMIM2024Q4	FRZB
+605087_AR:Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	OMIM2024Q4	PIGK
+605093_.:Erythrocytosis, somatic##.:Myelofibrosis, somatic##.:Thrombocythemia, somatic	OMIM2024Q4	SH2B3
+605124_AR:Diarrhea 3, secretory sodium, congenital, syndromic	OMIM2024Q4	SPINT2
+605194_AD:Heterotaxy, visceral, 2, autosomal	OMIM2024Q4	CFC1
+605205_AD:{Hypercalciuria, absorptive, susceptibility to}	OMIM2024Q4	ADCY10
+605225_.:{Inflammatory bowel disease 7}	OMIM2024Q4	IBD7
+605226_AD:Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	OMIM2024Q4	RERE
+605236_AR:?Cardiomyopathy, familial hypertrophic, 30, atrial##AD:Preeclampsia/eclampsia 5	OMIM2024Q4	CORIN
+605266_AR:Congenital myopathy 25##AD/AR:{?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of}	OMIM2024Q4	JPH1
+605284_.:Focal cortical dysplasia, type II, somatic##.:Lymphangioleiomyomatosis##AD:Tuberous sclerosis-1	OMIM2024Q4	TSC1
+605294_AR:Macular corneal dystrophy	OMIM2024Q4	CHST6
+605352_.:Malignant fibrous histiocytoma	OMIM2024Q4	MFHAS1
+605423_AR:46XY gonadal dysgenesis with minifascicular neuropathy##AR:46XY sex reversal 7	OMIM2024Q4	DHH
+605437_Mu:{Cerebral infarction, susceptibility to}	OMIM2024Q4	PRKCH
+605461_AR:Immunodeficiency 51	OMIM2024Q4	IL17RA
+605489_AR:Short-rib thoracic dysplasia 19 with or without polydactyly	OMIM2024Q4	IFT81
+605549_AR:Cone-rod dystrophy 8	OMIM2024Q4	CORD8
+605554_.:{Rheumatoid arthritis, susceptibility to}	OMIM2024Q4	CD244
+605564_AR:Deafness, autosomal recessive 48##AR:Usher syndrome, type IJ	OMIM2024Q4	CIB2
+605579_.:{Influenza, severe, susceptibility to}	OMIM2024Q4	IFITM3
+605593_AD:Acrofacial dysostosis 1, Nager type	OMIM2024Q4	SF3B4
+605654_AR:Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	OMIM2024Q4	FBXL4
+605664_AR:?Cardiomyopathy, familial restrictive, 6	OMIM2024Q4	KIF20A
+605755_AR:?Deafness, autosomal recessive 66##AR:Nephronophthisis 19##AR:Sclerosing cholangitis, neonatal	OMIM2024Q4	DCDC2
+602452_.:Colorectal cancer with chromosomal instability, somatic##AR:Microcephaly 30, primary, autosomal recessive	OMIM2024Q4	BUB1
+602480_AD:Snijders Blok-Fisher syndrome	OMIM2024Q4	POU3F3
+602580_AR:Developmental delay with hypotonia, myopathy, and brain abnormalities	OMIM2024Q4	GOLGA2
+602669_AD:Anterior segment dysgenesis 1, multiple subtypes##AD/AR:Cataract 11, multiple types##AD/AR:Cataract 11, syndromic, autosomal recessive	OMIM2024Q4	PITX3
+602678_AR:?Visual impairment and progressive phthisis bulbi	OMIM2024Q4	MARK3
+602690_AR:Mitochondrial complex II deficiency, nuclear type 3##.:Paraganglioma and gastric stromal sarcoma##AD:Pheochromocytoma/paraganglioma syndrome 1	OMIM2024Q4	SDHD
+602700_.:Colorectal cancer, somatic##AD:Menke-Hennekam syndrome 2##AD:Rubinstein-Taybi syndrome 2	OMIM2024Q4	EP300
+602716_AR:Nephrotic syndrome, type 1	OMIM2024Q4	NPHS1
+602726_AD:Ceroid lipofuscinosis, neuronal, 15	OMIM2024Q4	CLCN6
+602744_AR:Rhizomelic chondrodysplasia punctata, type 2	OMIM2024Q4	GNPAT
+602754_AD:Dehydrated hereditary stomatocytosis 2	OMIM2024Q4	KCNN4
+602770_AR:?46XY sex reversal 5	OMIM2024Q4	CBX2
+602780_AD:Developmental and epileptic encephalopathy 24##AD:Generalized epilepsy with febrile seizures plus, type 10	OMIM2024Q4	HCN1
+602842_AD:Meier-Gorlin syndrome 6	OMIM2024Q4	GMNN
+602869_AD:Developmental and epileptic encephalopathy 54	OMIM2024Q4	HNRNPU
+602879_AD:?Intellectual developmental disorder, autosomal dominant 11	OMIM2024Q4	EPB41L1
+602926_AD/AR:Developmental and epileptic encephalopathy 4	OMIM2024Q4	STXBP1
+602932_.:{Colorectal cancer, susceptibility to, 3}	OMIM2024Q4	SMAD7
+602983_AD:Zimmermann-Laband syndrome 3	OMIM2024Q4	KCNN3
+602985_AR:?Leber-like hereditary optic neuropathy, autosomal recessive 2##AR:Mitochondrial complex I deficiency, nuclear type 6	OMIM2024Q4	NDUFS2
+603024_AD:Coffin-Siris syndrome 2	OMIM2024Q4	ARID1A
+603027_AD:?Leukodystrophy, childhood-onset, remitting	OMIM2024Q4	FBP2
+603046_.:Renal cell carcinoma	OMIM2024Q4	RNF139
+603057_AD:Mitral valve prolapse 2##AR:Van Maldergem syndrome 1	OMIM2024Q4	DCHS1
+603072_AD/SMu:{Colon cancer, susceptibility to}	OMIM2024Q4	AURKA
+603085_AR:Neurodegeneration and seizures due to copper transport defect	OMIM2024Q4	SLC31A1
+603089_AD:Kury-Isidor syndrome##AD:Tumor predisposition syndrome 1##AD:{Uveal melanoma, susceptibility to, 2}	OMIM2024Q4	BAP1
+603122_AR:Immunodeficiency 40	OMIM2024Q4	DOCK2
+603136_AD:Neurodevelopmental disorder with or without autism or seizures##AD:Pseudohypoaldosteronism, type IIE	OMIM2024Q4	CUL3
+603164_AR:?Peroxisome biogenesis disorder 10B##AR:Peroxisome biogenesis disorder 10A (Zellweger)	OMIM2024Q4	PEX3
+603188_.:{Obesity, susceptibility to, BMIQ8}	OMIM2024Q4	BMIQ8
+603254_AD:?Otosclerosis 12##AD:Coffin-Siris syndrome 4##AD:{Rhabdoid tumor predisposition syndrome 2}	OMIM2024Q4	SMARCA4
+603287_AR:Pyridoxamine 5'-phosphate oxidase deficiency	OMIM2024Q4	PNPO
+603290_.:{Autism susceptibility 17}	OMIM2024Q4	SHANK2
+603309_AD:Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	OMIM2024Q4	CDK13
+603332_AR:Ciliary dyskinesia, primary, 37##AR:Spermatogenic failure 18	OMIM2024Q4	DNAH1
+603377_AR:Carnitine deficiency, systemic primary	OMIM2024Q4	SLC22A5
+603382_AR:?Premature ovarian failure 13##AR:Spermatogenic failure 74	OMIM2024Q4	MSH5
+611739_AD:{Osteoporosis}	OMIM2024Q4	BMND8
+611776_AR:Mitochondrial complex I deficiency, nuclear type 15	OMIM2024Q4	NDUFAF4
+611801_AR:Hyperphosphatasia with impaired intellectual development syndrome 4	OMIM2024Q4	PGAP3
+611885_AR:Autoinflammation with episodic fever and immune dysregulation	OMIM2024Q4	SHARPIN
+611944_AD:Lymphatic malformation 2	OMIM2024Q4	LMPH1B
+612007_.:{Celiac disease, susceptibility to, 9}	OMIM2024Q4	CELIAC9
+612013_AR:COACH syndrome 2##AR:Joubert syndrome 9##AR:Meckel syndrome 6##AR:Retinitis pigmentosa 93	OMIM2024Q4	CC2D2A
+612021_AR:Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	OMIM2024Q4	OTUD6B
+612025_AR:Thyroid dyshormonogenesis 4	OMIM2024Q4	IYD
+612029_AR:Siddiqi syndrome	OMIM2024Q4	FITM2
+612053_AR:Oocyte/zygote/embryo maturation arrest 13	OMIM2024Q4	ZFP36L2
+612110_.:[Bone mineral density QTL 9]	OMIM2024Q4	BMND9
+612114_.:[Bone mineral density QTL 11]	OMIM2024Q4	BMND11
+612161_.:Aneurysm, intracranial berry, 7	OMIM2024Q4	ANIB7
+612182_AR:[Acetylation, slow]	OMIM2024Q4	NAT2
+612232_.:{Colorectal cancer, susceptibility to, 7}	OMIM2024Q4	CRCS7
+612256_AD:Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	OMIM2024Q4	MAST1
+612274_AR:Ciliary dyskinesia, primary, 8	OMIM2024Q4	CILD8
+612280_AR:Fucosidosis	OMIM2024Q4	FUCA1
+612298_AD:?Aniridia 3	OMIM2024Q4	TRIM44
+612324_AR:Spermatogenic failure 76	OMIM2024Q4	CCDC34
+612351_AD/AR:Craniofacial microsomia 2	OMIM2024Q4	FOXI3
+612368_.:{Alkaline phosphatase, plasma level of, QTL3}	OMIM2024Q4	ALPQTL3
+612406_AR:Dystonia-17, primary torsion	OMIM2024Q4	DYT17
+612433_AR:Deafness, autosomal recessive 45	OMIM2024Q4	DFNB45
+612459_.:[Body mass index QTL13]	OMIM2024Q4	BMIQ13
+612517_AR:Ciliary dyskinesia, primary, 10	OMIM2024Q4	DNAAF2
+612557_.:{Leukemia, chronic lymphocytic, susceptibility to, 3}	OMIM2024Q4	CLLS3
+612570_AD:Contractural arachnodactyly, congenital##AD:Macular degeneration, early-onset	OMIM2024Q4	FBN2
+612587_.:{Aneurysm, intracranial berry, 10}	OMIM2024Q4	ANIB10
+612592_.:{Colorectal cancer, susceptibility to, 11}	OMIM2024Q4	CRCS11
+608414_AR:Nephrotic syndrome, type 3	OMIM2024Q4	PLCE1
+608451_AR:Ethylmalonic encephalopathy	OMIM2024Q4	ETHE1
+608507_AD:Charcot-Marie-Tooth disease, axonal, type 2A2A##AR:Charcot-Marie-Tooth disease, axonal, type 2A2B##AD:Hereditary motor and sensory neuropathy VIA##AR:Lipomatosis, multiple symmetric, with or without peripheral neuropathy	OMIM2024Q4	MFN2
+608537_AR:Erythrocytosis, familial, 2##.:Hemangioblastoma, cerebellar, somatic##AD:Pheochromocytoma##.:Renal cell carcinoma, somatic##AD:von Hippel-Lindau syndrome	OMIM2024Q4	VHL
+608559_.:[Body mass index QTL6]	OMIM2024Q4	BMIQ6
+608562_.:Polydactyly, postaxial, type A4	OMIM2024Q4	PAPA4
+608581_AD:Occult macular dystrophy##AR:Retinitis pigmentosa 88	OMIM2024Q4	RP1L1
+608626_AR:Polyhydramnios, megalencephaly, and symptomatic epilepsy	OMIM2024Q4	STRADA
+608638_IC/Mu:{Asperger syndrome susceptibility 1}	OMIM2024Q4	ASPG1
+608652_AD:Deafness, autosomal dominant 47	OMIM2024Q4	DFNA47
+608667_AD:Cornelia de Lange syndrome 1	OMIM2024Q4	NIPBL
+608713_AR:Rickets due to defect in vitamin D 25-hydroxylation deficiency	OMIM2024Q4	CYP2R1
+608750_AR:Congenital disorder of glycosylation, type Id	OMIM2024Q4	ALG3
+608756_AR:Pontocerebellar hypoplasia, type 2F	OMIM2024Q4	TSEN15
+608792_AR:Deafness, autosomal recessive 15	OMIM2024Q4	GIPC3
+608873_AD:Epilepsy, progressive myoclonic, 11	OMIM2024Q4	SEMA6B
+608968_AD:Duane retraction syndrome 3##AD:Multicentric carpotarsal osteolysis syndrome	OMIM2024Q4	MAFB
+608988_.:Atrial fibrillation, familial, 2	OMIM2024Q4	ATFB2
+609044_.:{Obesity, susceptibility to}	OMIM2024Q4	FFAR4
+609051_AD:?Inflammatory bowel disease (Crohn disease) 30	OMIM2024Q4	CARD8
+609102_AR:?Intellectual developmental disorder, autosomal recessive 45	OMIM2024Q4	FBXO31
+609113_.:[Telomere length, mean leukocyte]	OMIM2024Q4	TELM
+609168_AR:Chronic atrial and intestinal dysrhythmia	OMIM2024Q4	SGO1
+609204_AR:Combined oxidative phosphorylation deficiency 2	OMIM2024Q4	MRPS16
+609237_AR:Senior-Loken syndrome 5	OMIM2024Q4	IQCB1
+609239_AR:Hypotrichosis 8##AR:Woolly hair, autosomal recessive 1, with or without hypotrichosis	OMIM2024Q4	LPAR6
+609258_Mu:Myopia 9	OMIM2024Q4	MYP9
+609299_.:{Prostate cancer, hereditary, 5}	OMIM2024Q4	HPC5
+609342_AR:Intrinsic factor deficiency	OMIM2024Q4	CBLIF
+609377_AD/AR:?Dyskeratosis congenita, autosomal dominant 6##AD/AR:?Dyskeratosis congenita, autosomal recessive 7	OMIM2024Q4	ACD
+609382_AR:Microcephaly, epilepsy, and diabetes syndrome	OMIM2024Q4	IER3IP1
+605862_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	OMIM2024Q4	RXYLT1
+605870_AR:Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	OMIM2024Q4	ATP8A2
+605880_AD:Genitopatellar syndrome##AD:SBBYSS syndrome	OMIM2024Q4	KAT6B
+605938_AR:Developmental and epileptic encephalopathy 55	OMIM2024Q4	PIGP
+605984_AD:Cohen-Gibson syndrome	OMIM2024Q4	EED
+606032_AD:Intellectual developmental disorder, autosomal dominant 72	OMIM2024Q4	SRRM2
+606082_.:Goiter, multinodular, 3	OMIM2024Q4	MNG3
+606097_AR:Multiple congenital anomalies-hypotonia-seizures syndrome 1	OMIM2024Q4	PIGN
+606142_AD/AR:Hypouricemia, renal, 2##AD/AR:{Uric acid concentration, serum, QTL 2}	OMIM2024Q4	SLC2A9
+606158_AR:Encephalopathy, progressive, with or without lipodystrophy##AR:Lipodystrophy, congenital generalized, type 2##AD:Neuronopathy, distal hereditary motor, autosomal dominant 13##AD:Silver spastic paraplegia syndrome	OMIM2024Q4	BSCL2
+606179_.:Aneurysmal bone cysts	OMIM2024Q4	ANBC
+606187_.:Alzheimer disease-7	OMIM2024Q4	AD7
+606190_.:Meningioma, radiation-induced	OMIM2024Q4	MNRI
+606195_AR:Hamamy syndrome	OMIM2024Q4	IRX5
+606229_AD:Lessel-Kreienkamp syndrome	OMIM2024Q4	AGO2
+606240_AD:{Thyroid carcinoma, nonmedullary, 3}	OMIM2024Q4	NMTC3
+606256_.:{Stature QTL 2}	OMIM2024Q4	STQTL2
+606326_AR:Optic disc anomalies with retinal and/or macular dystrophy	OMIM2024Q4	SIX6
+606351_AR:?Usher syndrome, type 1M##AR:Deafness, autosomal recessive 36##AR:Deafness, neurosensory, without vestibular involvement, autosomal dominant	OMIM2024Q4	ESPN
+606368_AD:Hyperchylomicronemia, late-onset##AD:{Hypertriglyceridemia, susceptibility to}	OMIM2024Q4	APOA5
+606421_AR:Vascular malformation, primary intraosseous	OMIM2024Q4	ELMO2
+606425_AD:Erythrocytosis, familial, 3##AD:[Hemoglobin, high altitude adaptation]	OMIM2024Q4	EGLN1
+606522_.:Klippel-Feil syndrome 3, autosomal dominant##AD:Microphthalmia, isolated 7##AD:Microphthalmia, isolated, with coloboma 6	OMIM2024Q4	GDF3
+606554_AD:Episodic ataxia, type 3	OMIM2024Q4	EA3
+606566_AD/DD:Cardiomyopathy, hypertrophic, 1, digenic	OMIM2024Q4	MYLK2
+606613_.:[High density lipoprotein cholesterol level QTL 1]	OMIM2024Q4	HDLCQ1
+606622_AR:Schimke immunoosseous dysplasia	OMIM2024Q4	SMARCAL1
+606662_.:Waardenburg syndrome, type 2C	OMIM2024Q4	WS2C
+606675_.:{Inflammatory bowel disease 4}	OMIM2024Q4	IBD4
+606680_AR:Hyperparathyroidism, transient neonatal	OMIM2024Q4	TRPV6
+606723_AR:Neurocardiofaciodigital syndrome	OMIM2024Q4	MAPKAPK5
+606759_AR:Thyroid dyshormonogenesis 6	OMIM2024Q4	DUOX2
+606761_AR:Malonyl-CoA decarboxylase deficiency	OMIM2024Q4	MLYCD
+606770_.:{Adiponectin, serum level of, QTL2}	OMIM2024Q4	ADIPQTL2
+606811_AR:Hyperprolinemia, type II	OMIM2024Q4	ALDH4A1
+606822_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3##AR:Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3##AR:Retinitis pigmentosa 76	OMIM2024Q4	POMGNT1
+603427_AD:?Advanced sleep phase syndrome, familial, 3	OMIM2024Q4	PER3
+603527_AR:Developmental delay with short stature, dysmorphic facial features, and sparse hair	OMIM2024Q4	DPH1
+603544_AD:?Intellectual developmental disorder with hypertelorism and distinctive facies	OMIM2024Q4	CCNK
+603564_AR:Congenital disorder of glycosylation, type Iu	OMIM2024Q4	DPM2
+603593_AR:Lysinuric protein intolerance	OMIM2024Q4	SLC7A7
+603639_AR:?Inflammatory skin and bowel disease, neonatal, 1	OMIM2024Q4	ADAM17
+603666_AD:Pseudohypoparathyroidism Ib	OMIM2024Q4	STX16
+603680_AD:Spinocerebellar ataxia 8##AD/Mu:{Parkinson disease, susceptibility to}	OMIM2024Q4	ATXN8OS
+603694_.:{Type 2 diabetes mellitus 3}	OMIM2024Q4	NIDDM3
+603743_AD:{Glomerulosclerosis, focal segmental, 4, susceptibility to}	OMIM2024Q4	APOL1
+603773_AR:Mitochondrial complex IV deficiency, nuclear type 20	OMIM2024Q4	COX5A
+603799_AR:Spondyloepiphyseal dysplasia with congenital joint dislocations	OMIM2024Q4	CHST3
+603885_AR:Cardiomyopathy, dilated, 2F	OMIM2024Q4	BAG5
+604025_.:Colorectal cancer, somatic##AD:Oligodontia-colorectal cancer syndrome	OMIM2024Q4	AXIN2
+604113_AR:{?Hepatitis, fulminant viral, susceptibility to}	OMIM2024Q4	IL18BP
+604114_.:Platelet PLC beta-2 deficiency	OMIM2024Q4	PLCB2
+604125_AR:Ichthyosis, congenital, autosomal recessive 14	OMIM2024Q4	SULT2B1
+604126_AR:Myofibrillar myopathy 10	OMIM2024Q4	SVIL
+604144_AD/AR:Cystinuria	OMIM2024Q4	SLC7A9
+604175_AD:Diamond-Blackfan anemia 7	OMIM2024Q4	RPL11
+604214_AD:Cavernous malformations of CNS and retina##AD:Cerebral cavernous malformations-1##AD:Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	OMIM2024Q4	KRIT1
+604217_AR:Pulmonary alveolar microlithiasis	OMIM2024Q4	SLC34A2
+604260_AR:Growth hormone insensitivity with immune dysregulation 1, autosomal recessive##AD:Growth hormone insensitivity with immune dysregulation 2, autosomal dominant	OMIM2024Q4	STAT5B
+604270_AR:?Myasthenic syndrome, congenital, 17##AR:Cenani-Lenz syndactyly syndrome##AD/AR:Sclerosteosis 2	OMIM2024Q4	LRP4
+604316_.:{Psoriasis susceptibility 5}	OMIM2024Q4	PSORS5
+604358_AD:Intellectual developmental disorder, autosomal dominant 47	OMIM2024Q4	STAG1
+604401_.:Arrhythmogenic right ventricular dysplasia 6	OMIM2024Q4	ARVD6
+604404_AR:Omodysplasia 1	OMIM2024Q4	GPC6
+604418_AD:Deafness, autosomal dominant 3B##AR:Deafness, autosomal recessive 1B##AR/DD:Deafness, digenic GJB2/GJB6##AD:Ectodermal dysplasia 2, Clouston type	OMIM2024Q4	GJB6
+609428_AR:Tukel syndrome	OMIM2024Q4	TUKLS
+609512_AD:Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	OMIM2024Q4	CHMP2B
+609558_.:{Prostate cancer, susceptibility to}	OMIM2024Q4	HPC6
+609562_AD/AR:Epilepsy, familial temporal lobe, 5##AR:Febrile seizures, familial, 11	OMIM2024Q4	CPA6
+609649_AD:Trichilemmal cyst 1	OMIM2024Q4	TRICY1
+609661_AR:Hydatidiform mole, recurrent, 1	OMIM2024Q4	NLRP7
+609670_.:{Migraine with aura, susceptibility to, 9}	OMIM2024Q4	MGR9
+609804_AR:Heterotaxy, visceral, 10, autosomal, with male infertility	OMIM2024Q4	CFAP52
+609875_AR:Persistent hyperplastic primary vitreous, autosomal recessive	OMIM2024Q4	ATOH7
+609898_AR:Ectodermal dysplasia 13, hair/tooth type	OMIM2024Q4	KREMEN1
+609915_.:Cardiomyopathy, dilated, 1Q	OMIM2024Q4	CMD1Q
+609966_AR:Spermatogenic failure 69	OMIM2024Q4	GGN
+610000_AR:Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	OMIM2024Q4	CEP55
+610004_AR:Fibrosis of extraocular muscles, congenital, 5	OMIM2024Q4	COL25A1
+610035_AR:Neutropenia, severe congenital, 5, autosomal recessive	OMIM2024Q4	VPS45
+610060_AR:Leukodystrophy, hypomyelinating, 11##AR:Treacher Collins syndrome 3	OMIM2024Q4	POLR1C
+610071_.:Hyperparathyroidism 3	OMIM2024Q4	HRPT3
+610219_AR:Deafness, autosomal recessive 59	OMIM2024Q4	PJVK
+610230_AR:Liver failure, transient infantile##Mi:{Deafness, mitochondrial, modifier of}	OMIM2024Q4	TRMU
+610234_AD:Synpolydactyly 3	OMIM2024Q4	SPD3
+610260_.:Pyloric stenosis, infantile hypertrophic, 2	OMIM2024Q4	IHPS2
+610261_Mu:{Hypertension, essential, susceptibility to, 5}	OMIM2024Q4	HYT5
+610303_AD:Insulinomatosis and diabetes mellitus	OMIM2024Q4	MAFA
+610308_AR:Peters-plus syndrome	OMIM2024Q4	B3GLCT
+610326_AR:Aicardi-Goutieres syndrome 2	OMIM2024Q4	RNASEH2B
+610463_AR:?Congenital disorder of glycosylation, type 1aa##AD:Intellectual developmental disorder, autosomal dominant 55, with seizures	OMIM2024Q4	NUS1
+612642_AD:Deafness, autosomal dominant 59	OMIM2024Q4	DFNA59
+612729_.:[Lean body mass QTL 1]	OMIM2024Q4	LBMQTL1
+612757_AR:Hyperlipoproteinemia, type 1D	OMIM2024Q4	GPIHBP1
+612778_AD:Intellectual developmental disorder, autosomal dominant 70##AD:Luscan-Lumish syndrome##AD:Rabin-Pappas syndrome	OMIM2024Q4	SETD2
+612795_.:[Polyunsaturated fatty acids plasma level QTL1]	OMIM2024Q4	PURAQTL1
+612892_.:{Stature QTL 18}	OMIM2024Q4	STQTL18
+612971_AR:Deafness, autosomal recessive 57##AR/DD:Usher syndrome, type IIC, GPR98/PDZD7 digenic##AR:{Retinal disease in Usher syndrome type IIA, modifier of}	OMIM2024Q4	PDZD7
+612988_AR:Optic atrophy 7	OMIM2024Q4	TMEM126A
+613017_.:{Neuroblastoma, susceptibility to, 6}	OMIM2024Q4	NBLST6
+613111_AR:Galactosialidosis	OMIM2024Q4	CTSA
+613113_AD/SMu:Leukemia, juvenile myelomonocytic##AD:Neurofibromatosis, familial spinal##AD:Neurofibromatosis, type 1##AD:Neurofibromatosis-Noonan syndrome##AD:Watson syndrome	OMIM2024Q4	NF1
+613128_AR:Cerebroretinal microangiopathy with calcifications and cysts 2	OMIM2024Q4	STN1
+613165_AR:Desbuquois dysplasia 1##AR:Epiphyseal dysplasia, multiple, 7	OMIM2024Q4	CANT1
+613190_AR:Ciliary dyskinesia, primary, 13	OMIM2024Q4	DNAAF1
+613231_AR:Cortical dysplasia, complex, with other brain malformations 11	OMIM2024Q4	KIF26A
+613318_.:Miyoshi muscular dystrophy 2	OMIM2024Q4	MMD2
+613340_.:Epilepsy, hot water, 2	OMIM2024Q4	HWE2
+613350_AR:?Fazio-Londe disease##AR:Brown-Vialetto-Van Laere syndrome 1	OMIM2024Q4	SLC52A3
+613425_AR:Retinitis pigmentosa 54	OMIM2024Q4	PCARE
+613521_AD/AR:Porphyria cutanea tarda##AD/AR:Porphyria, hepatoerythropoietic	OMIM2024Q4	UROD
+613522_AD:Colorblindness, tritan	OMIM2024Q4	OPN1SW
+613530_AD:Muscular dystrophy, limb-girdle, type 1H	OMIM2024Q4	LGMD1H
+613534_AR:Interstitial nephritis, karyomegalic	OMIM2024Q4	FAN1
+613541_AR:Combined oxidative phosphorylation deficiency 7##AR:Spastic paraplegia 55, autosomal recessive	OMIM2024Q4	MTRFR
+613555_AD/AR:Beck-Fahrner syndrome	OMIM2024Q4	TET3
+613583_AR:Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	OMIM2024Q4	WDR62
+613605_AR:Bardet-Biedl syndrome 18	OMIM2024Q4	BBIP1
+613635_AD:?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	OMIM2024Q4	EIF2AK1
+613637_.:[Tuberculin skin test reactivity QTL]	OMIM2024Q4	TST2
+613653_AR:Spastic paraplegia 48, autosomal recessive	OMIM2024Q4	AP5Z1
+606830_AR:Neurodegeneration, childhood-onset, with cerebellar atrophy	OMIM2024Q4	AGTPBP1
+606860_AD/AR:Angioedema, hereditary, 1 and 2##AD:Complement component 4, partial deficiency of	OMIM2024Q4	SERPING1
+606882_AR:Wilson disease	OMIM2024Q4	ATP7B
+606896_.:{Dyslexia, susceptibility to, 5}	OMIM2024Q4	DYX5
+606930_AD:?Deafness, autosomal dominant 86	OMIM2024Q4	THOC1
+606949_AR:Ferguson-Bonni neurodevelopmental syndrome	OMIM2024Q4	ANAPC7
+606963_.:{Pulmonary disease, chronic obstructive, susceptibility to}##.:Pulmonary disease, chronic obstructive, severe early-onset	OMIM2024Q4	COPD
+606979_.:Congenital disorder of glycosylation, type IIh	OMIM2024Q4	COG8
+606989_AR:Myeloperoxidase deficiency##AD:{Alzheimer disease, susceptibility to}##.:{Lung cancer, protection against, in smokers}	OMIM2024Q4	MPO
+607035_.:Basal cell nevus syndrome 2##AR:Joubert syndrome 32##AD/AR/SMu:{Medulloblastoma}##AD:{Meningioma, familial, susceptibility to}	OMIM2024Q4	SUFU
+607053_.:[High density lipoprotein cholesterol level QTL 2]	OMIM2024Q4	HDLCQ2
+607085_.:Myasthenia gravis with thymus hyperplasia	OMIM2024Q4	MYAS1
+607086_.:Aortic aneurysm, familial thoracic 1	OMIM2024Q4	AAT1
+607102_AD/SMu:Denys-Drash syndrome##AD/SMu:Frasier syndrome##AD:Meacham syndrome##.:Mesothelioma, somatic##AD:Nephrotic syndrome, type 4##AD/SMu:Wilms tumor, type 1	OMIM2024Q4	WT1
+607134_Mu:Specific language impairment QTL, 3	OMIM2024Q4	SLI3
+607135_.:Creatinine clearance QTL	OMIM2024Q4	CRCL
+607186_AR:Cole-Carpenter syndrome 2	OMIM2024Q4	SEC24D
+607198_AR:?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	OMIM2024Q4	TDP1
+607199_AD:Popliteal pterygium syndrome 1##AD:van der Woude syndrome 1##AD:{Orofacial cleft 6}	OMIM2024Q4	IRF6
+607211_AD:Pityriasis rubra pilaris##AD:Psoriasis 2	OMIM2024Q4	CARD14
+607243_AR:Spastic paraplegia 52, autosomal recessive	OMIM2024Q4	AP4S1
+607343_AD:?IVIC syndrome##AD:Duane-radial ray syndrome	OMIM2024Q4	SALL4
+607357_AD:Intellectual developmental disorder, autosomal dominant 46	OMIM2024Q4	KCNQ5
+607358_AD/AR:Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia	OMIM2024Q4	AIRE
+607380_AR:Senior-Loken syndrome 9	OMIM2024Q4	TRAF3IP1
+607393_AD:Hyperparathyroidism, familial primary##AD:Hyperparathyroidism-jaw tumor syndrome##AD:Parathyroid adenoma with cystic changes##.:Parathyroid carcinoma	OMIM2024Q4	CDC73
+607423_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1##AR:Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	OMIM2024Q4	POMT1
+607428_AR:Nephrotic syndrome, type 23	OMIM2024Q4	KIRREL1
+607435_AR:Perrault syndrome 6	OMIM2024Q4	ERAL1
+607444_AR:Shwachman-Diamond syndrome 1##.:{Aplastic anemia, susceptibility to}	OMIM2024Q4	SBDS
+607470_AR:Hengel-Maroofian-Schols syndrome	OMIM2024Q4	BCAS3
+607474_AR:Alkaptonuria	OMIM2024Q4	HGD
+607491_AD:Dowling-Degos disease 2	OMIM2024Q4	POFUT1
+607532_AR:Joubert syndrome 33	OMIM2024Q4	PIBF1
+607544_AR:Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)	OMIM2024Q4	LRPPRC
+607557_AD:Deafness, autosomal dominant 25	OMIM2024Q4	SLC17A8
+607590_AR:Bardet-Biedl syndrome 7	OMIM2024Q4	BBS7
+607640_AD:Spinocerebellar ataxia 7	OMIM2024Q4	ATXN7
+607652_AR:?Ciliary dyskinesia, primary, 46	OMIM2024Q4	STK36
+604485_AR:Enhanced S-cone syndrome##AD/AR:Retinitis pigmentosa 37	OMIM2024Q4	NR2E3
+604499_.:Hyperlipidemia, combined, 2	OMIM2024Q4	HYPLIP2
+604507_AR:Mosaic variegated aneuploidy syndrome 3##AR:Oocyte/zygote/embryo maturation arrest 9	OMIM2024Q4	TRIP13
+604526_AR:Retinitis pigmentosa 46	OMIM2024Q4	IDH3B
+604565_AD:Polycystic kidney disease 7	OMIM2024Q4	ALG5
+604581_AD:Optic atrophy 12##AR:Spastic ataxia 5, autosomal recessive##AD:Spinocerebellar ataxia 28	OMIM2024Q4	AFG3L2
+604584_.:Colorectal cancer, somatic##.:Hepatocellular cancer, somatic	OMIM2024Q4	PDGFRL
+604592_AR:Osteopetrosis, autosomal recessive 1	OMIM2024Q4	TCIRG1
+604720_AR:Hemochromatosis, type 3	OMIM2024Q4	TFR2
+604758_AR:?Immunodeficiency 53	OMIM2024Q4	RELB
+604773_AR:Isobutyryl-CoA dehydrogenase deficiency	OMIM2024Q4	ACAD8
+604774_AR:Hypobetalipoproteinemia, familial, 2	OMIM2024Q4	ANGPTL3
+604860_AR:Immunodeficiency 12	OMIM2024Q4	MALT1
+604867_AD:[Beta-glycopyranoside tasting]##Mu:{Alcohol dependence, susceptibility to}	OMIM2024Q4	TAS2R16
+604875_AR:Myasthenic syndrome, congenital, 24, presynaptic	OMIM2024Q4	MYO9A
+604943_AR:?Deafness, autosomal recessive 61	OMIM2024Q4	SLC26A5
+604976_AR:[Skeletal muscle glycogen content and metabolism QTL]	OMIM2024Q4	PRKAG3
+605018_AD:?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8##AD:Brooke-Spiegler syndrome##AD:Cylindromatosis, familial##AD:Trichoepithelioma, multiple familial, 1	OMIM2024Q4	CYLD
+605035_AD:Neurodevelopmental disorder with absent language and variable seizures	OMIM2024Q4	WASF1
+605042_AR:Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy	OMIM2024Q4	MED23
+605047_AR:?Immunodeficiency 39	OMIM2024Q4	IRF7
+605064_AD:Anemia, congenital dyserythropoietic, type IIIA	OMIM2024Q4	KIF23
+605072_AD:Oculopharyngodistal myopathy 2	OMIM2024Q4	GIPC1
+605102_AR:MASP2 deficiency	OMIM2024Q4	MASP2
+605235_AD:?Myoclonus, familial, 1	OMIM2024Q4	NOL3
+605283_AD:Schaaf-Yang syndrome	OMIM2024Q4	MAGEL2
+605317_AD:Speech-language disorder-1	OMIM2024Q4	FOXP2
+605363_AR:Developmental and epileptic encephalopathy 89	OMIM2024Q4	GAD1
+605377_AD:Myotonic dystrophy 1	OMIM2024Q4	DMPK
+605378_AR:Achalasia-addisonianism-alacrimia syndrome	OMIM2024Q4	AAAS
+605388_AR:Cerebral palsy, ataxic, autosomal recessive	OMIM2024Q4	CPAT1
+605411_AD:Brugada syndrome 9##AD:Spinocerebellar ataxia 19	OMIM2024Q4	KCND3
+605419_AD:{Schizophrenia 10}	OMIM2024Q4	SCZD10
+605511_AR:Deafness, autosomal recessive 8/10	OMIM2024Q4	TMPRSS3
+610535_AD:Glaucoma 1, open angle, M	OMIM2024Q4	GLC1M
+610564_AR:Coenzyme Q10 deficiency, primary, 3	OMIM2024Q4	PDSS2
+610622_AD:{Neural tube defects, susceptibility to}	OMIM2024Q4	FUZ
+610627_AD:{Otitis media, susceptibility to}	OMIM2024Q4	A2ML1
+610662_AR:Hyperphosphatasia with impaired intellectual development syndrome 6	OMIM2024Q4	PIGY
+610740_AD:Global developmental delay with speech and behavioral abnormalities	OMIM2024Q4	TNRC6B
+610860_AR:Glycogen storage disease IIIa##AR:Glycogen storage disease IIIb	OMIM2024Q4	AGL
+610908_.:{Autism susceptibility 13}	OMIM2024Q4	AUTS13
+610911_AD:Adams-Oliver syndrome 1	OMIM2024Q4	ARHGAP31
+610942_AD:Retinal dystrophy and iris coloboma with or without cataract	OMIM2024Q4	MIR204
+610956_AR:Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	OMIM2024Q4	DARS2
+611060_AD:Intellectual developmental disorder, autosomal dominant 29##AD:Schinzel-Giedion midface retraction syndrome	OMIM2024Q4	SETBP1
+611062_AR:Amelogenesis imperfecta, type IG (enamel-renal syndrome)	OMIM2024Q4	FAM20A
+611097_AR:Intellectual developmental disorder, autosomal recessive 11	OMIM2024Q4	MRT11
+611103_AR:Mitochondrial complex I deficiency, nuclear type 20	OMIM2024Q4	ACAD9
+611147_AD:Paroxysmal nonkinesigenic dyskinesia 2	OMIM2024Q4	PNKD2
+611150_AD:Spinocerebellar ataxia 10	OMIM2024Q4	ATXN10
+611262_AR:Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	OMIM2024Q4	DOHH
+611345_AR:Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	OMIM2024Q4	INTS1
+611408_AR:Leber congenital amaurosis 5	OMIM2024Q4	LCA5
+611421_AD:Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities##AD:Floating-Harbor syndrome	OMIM2024Q4	SRCAP
+611432_AR:Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections	OMIM2024Q4	DOCK8
+611459_AR:Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	OMIM2024Q4	SLC10A7
+611486_AR:?Premature ovarian failure 12##AR:?Spermatogenic failure 15	OMIM2024Q4	SYCE1
+611501_AD:Cerebellar dysfunction with variable cognitive and behavioral abnormalities	OMIM2024Q4	CAMTA1
+611510_AR:?Short stature and microcephaly with genital anomalies	OMIM2024Q4	CENPT
+611524_AR:Pontocerebellar hypoplasia, type 6	OMIM2024Q4	RARS2
+611549_AD:Congenital contractures of the limbs and face, hypotonia, and developmental delay##AR:Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	OMIM2024Q4	NALCN
+611550_.:{Malaria, mild, susceptibility to}	OMIM2024Q4	NCR3
+607800_AR:Ichthyosis, congenital, autosomal recessive 4A##AR:Ichthyosis, congenital, autosomal recessive 4B (harlequin)	OMIM2024Q4	ABCA12
+607849_AR:?Retinal dystrophy, juvenile cataracts, and short stature syndrome	OMIM2024Q4	RDH11
+607854_AD:?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2##.:Bestrophinopathy, autosomal recessive##AD:Macular dystrophy, vitelliform, 2##.:Retinitis pigmentosa, concentric##.:Retinitis pigmentosa-50##AD:Vitreoretinochoroidopathy	OMIM2024Q4	BEST1
+607880_AR:Spondyloepimetaphyseal dysplasia with joint laxity, type 3	OMIM2024Q4	EXOC6B
+607901_AR:Leukocyte adhesion deficiency, type III	OMIM2024Q4	FERMT3
+607904_AD:Hyperaldosteronism, familial, type IV##.:{Epilepsy, childhood absence, susceptibility to, 6}##.:{Epilepsy, idiopathic generalized, susceptibility to, 6}	OMIM2024Q4	CACNA1H
+607949_.:{Tuberculosis, susceptibility to}	OMIM2024Q4	MTBS1
+607951_AR:Mosaic variegated aneuploidy syndrome 2	OMIM2024Q4	CEP57
+607961_AR:?Cholestasis, progressive familial intrahepatic, 11##.:[Blood group, John-Milton-Hagen system]	OMIM2024Q4	SEMA7A
+608002_AR:Meckel syndrome 7##AR:Nephronophthisis 3##AR:Renal-hepatic-pancreatic dysplasia 1	OMIM2024Q4	NPHP3
+608005_AR:Marinesco-Sjogren syndrome	OMIM2024Q4	SIL1
+608025_AR:Infantile liver failure syndrome 2##AR:Short stature, optic nerve atrophy, and Pelger-Huet anomaly	OMIM2024Q4	NBAS
+608031_.:Amyotrophic lateral sclerosis 7	OMIM2024Q4	ALS7
+608095_AR:Orofaciodigital syndrome XIX	OMIM2024Q4	SCNM1
+608112_AR:Developmental and epileptic encephalopathy 68	OMIM2024Q4	TRAK1
+608137_AD:Hypogonadotropic hypogonadism 9 with or without anosmia	OMIM2024Q4	NSMF
+608142_AR:?Anemia, sideroblastic, 5	OMIM2024Q4	HSCB
+608160_AD:Acampomelic campomelic dysplasia##AD:Campomelic dysplasia##AD:Campomelic dysplasia with autosomal sex reversal	OMIM2024Q4	SOX9
+608172_AR:?Congenital disorder of glycosylation, type 1bb##AD:Developmental delay and seizures with or without movement abnormalities##AR:Retinitis pigmentosa 59	OMIM2024Q4	DHDDS
+608174_.:{Autoimmune thyroid disease, susceptibility to, 2}	OMIM2024Q4	AITD2
+608205_AR:Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities##AR:Optic atrophy 16	OMIM2024Q4	MECR
+608243_AR:Lung disease, immunodeficiency, and chromosome breakage syndrome	OMIM2024Q4	NSMCE3
+608248_AR:?Ectodermal dysplasia 7, hair/nail type##AD:?Hypotrichosis 3##AD:Woolly hair, autosomal dominant	OMIM2024Q4	KRT74
+608272_AR:Sialidosis, type I##AR:Sialidosis, type II	OMIM2024Q4	NEU1
+608285_AR:Vertebral, cardiac, renal, and limb defects syndrome 3	OMIM2024Q4	NADSYN1
+608303_AR:Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	OMIM2024Q4	LGI4
+608307_AR:Carbamoylphosphate synthetase I deficiency##.:{Pulmonary hypertension, neonatal, susceptibility to}	OMIM2024Q4	CPS1
+608309_AR:Parkinson disease 6, early onset	OMIM2024Q4	PINK1
+608391_.:{Autoimmune disease, susceptibility to, 2}	OMIM2024Q4	AIS2
+608410_.:{Obesity, susceptibility to, BMIQ7}	OMIM2024Q4	BMIQ7
+608419_AR:Methylmalonyl-CoA epimerase deficiency	OMIM2024Q4	MCEE
+608442_AD:Emery-Dreifuss muscular dystrophy 5, autosomal dominant	OMIM2024Q4	SYNE2
+608447_.:Carotid intimal medial thickness	OMIM2024Q4	CIMT
+608500_AR:Epilepsy, progressive myoclonic 1B	OMIM2024Q4	PRICKLE1
+608555_AR:Mandibuloacral dysplasia progeroid syndrome	OMIM2024Q4	MTX2
+608558_.:[Body mass index QTL5]	OMIM2024Q4	BMIQ5
+608613_AD:Amelogenesis imperfecta, type IK	OMIM2024Q4	SP6
+608648_AD:Polycystic liver disease 2	OMIM2024Q4	SEC63
+608666_AR:Peroxisome biogenesis disorder 7A (Zellweger)##AR:Peroxisome biogenesis disorder 7B	OMIM2024Q4	PEX26
+608706_AR:Ciliary dyskinesia, primary, 25##AD:{Dyslexia, susceptibility to, 1}	OMIM2024Q4	DNAAF4
+613685_AR:Deafness, autosomal recessive 83	OMIM2024Q4	DFNB83
+613726_AR:Spinocerebellar ataxia, autosomal recessive 10	OMIM2024Q4	ANO10
+613727_AD:Nemaline myopathy 6, autosomal dominant	OMIM2024Q4	KBTBD13
+613733_.:Adrenal adenoma, somatic##.:Angiofibroma, somatic##.:Carcinoid tumor of lung##.:Lipoma, somatic##AD:Multiple endocrine neoplasia 1##.:Parathyroid adenoma, somatic	OMIM2024Q4	MEN1
+613799_AR:Ciliary dyskinesia, primary, 15	OMIM2024Q4	CCDC40
+613893_AR:Spermatogenic failure 9	OMIM2024Q4	DPY19L2
+613931_AR:Pontocerebellar hypoplasia, type 7	OMIM2024Q4	TOE1
+614058_AR:?[Fructosuria, essential]	OMIM2024Q4	KHK
+614062_AD:Chilton-Okur-Chung neurodevelopmental syndrome	OMIM2024Q4	CDC42BPB
+614141_AR:Charcot-Marie-Tooth disease, type 2R	OMIM2024Q4	TRIM2
+614144_AR:?Meckel syndrome 9##AR:Joubert syndrome 27	OMIM2024Q4	B9D1
+614149_AR:Nail disorder, nonsyndromic congenital, 9	OMIM2024Q4	NDNC9
+614161_AR:Brittle cornea syndrome 2	OMIM2024Q4	PRDM5
+614187_AD:Hypertelorism, preauricular sinus, punctal pits, and deafness	OMIM2024Q4	HPPD
+614238_AR:Hypotrichosis 10	OMIM2024Q4	HYP10
+614246_AR:Basal ganglia calcification, idiopathic, 9, autosomal recessive	OMIM2024Q4	NAA60
+614281_AR:Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	OMIM2024Q4	ESAM
+614341_AR:Intellectual developmental disorder, autosomal recessive 33	OMIM2024Q4	MRT33
+614346_AR:Intellectual developmental disorder, autosomal recessive 25	OMIM2024Q4	MRT25
+614351_AR:Nephrotic syndrome, type 12	OMIM2024Q4	NUP93
+614375_.:Aortic aneurysm, familial abdominal 4	OMIM2024Q4	AAA4
+614422_AD:Cataract 37, autosomal dominant	OMIM2024Q4	CTRCT37
+614423_AR:Joubert syndrome 14	OMIM2024Q4	TMEM237
+614461_AR:Mitochondrial complex III deficiency, nuclear type 7	OMIM2024Q4	UQCC2
+614515_AR:Night blindness, congenital stationary (complete), 1E, autosomal recessive	OMIM2024Q4	GPR179
+614567_AD:Auditory neuropathy, autosomal dominant 1	OMIM2024Q4	DIAPH3
+614571_AR:Joubert syndrome 17##AR:Orofaciodigital syndrome VI	OMIM2024Q4	CPLANE1
+614588_AD:Dystonia 21	OMIM2024Q4	DYT21
+614606_AR:Liver disease, severe congenital	OMIM2024Q4	FOCAD
+605556_AR:Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	OMIM2024Q4	SLC4A10
+605572_AD:Abdominal obesity-metabolic syndrome	OMIM2024Q4	AOMS2
+605600_AR:VISS syndrome	OMIM2024Q4	IPO8
+605646_AR:Deafness, autosomal recessive 4, with enlarged vestibular aqueduct##AR:Pendred syndrome	OMIM2024Q4	SLC26A4
+605705_AD:Developmental and epileptic encephalopathy 30	OMIM2024Q4	SIK1
+605706_AR:CHAND syndrome##AR:Popliteal pterygium syndrome, Bartsocas-Papas type 1	OMIM2024Q4	RIPK4
+605720_AD:Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	OMIM2024Q4	KCNK4
+605747_AR:Hypercholesterolemia, familial, 4	OMIM2024Q4	LDLRAP1
+605752_AR:Developmental and epileptic encephalopathy 105 with hypopituitarism	OMIM2024Q4	HID1
+605775_AD/AR:Pseudohypoaldosteronism, type IID	OMIM2024Q4	KLHL3
+605810_AR:Combined oxidative phosphorylation deficiency 5##AR:Ovarian dysgenesis 7	OMIM2024Q4	MRPS22
+605829_AR:{Epidermodysplasia verruciformis, susceptibility to, 2}	OMIM2024Q4	TMC8
+605849_AR:Dimethylglycine dehydrogenase deficiency	OMIM2024Q4	DMGDH
+605878_AD:Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	OMIM2024Q4	ZBTB7A
+605881_AR:Congenital disorder of glycosylation, type IIc	OMIM2024Q4	SLC35C1
+605906_AD:Cardiomyopathy, dilated, 1C, with or without LVNC##AD:Cardiomyopathy, hypertrophic, 24##AD:Left ventricular noncompaction 3##AD:Myopathy, myofibrillar, 4	OMIM2024Q4	LDB3
+606025_AD:Primrose syndrome	OMIM2024Q4	ZBTB20
+606027_AD:Myopia 27	OMIM2024Q4	CPSF1
+606037_AD:C syndrome	OMIM2024Q4	CD96
+606061_.:Atrial septal defect 4	OMIM2024Q4	TBX20
+606078_AR:?Immunodeficiency 66	OMIM2024Q4	MRTFA
+606083_.:?Renal cell carcinoma, clear cell	OMIM2024Q4	PBRM1
+606107_AD:?Deafness, autosomal dominant 72	OMIM2024Q4	SLC44A4
+606125_AD:Focal segmental glomerulosclerosis and neurodevelopmental syndrome	OMIM2024Q4	TRIM8
+606144_AR:Carpenter syndrome	OMIM2024Q4	RAB23
+606200_AD:[Short sleep, familial natural, 1]	OMIM2024Q4	BHLHE41
+606207_AR:[Uridine-cytidineuria]	OMIM2024Q4	SLC28A1
+606215_.:{Atrioventricular septal defect, susceptibility to, 1}	OMIM2024Q4	AVSD1
+606258_.:{Stature QTL 4}	OMIM2024Q4	STQTL4
+606263_AD:Paget disease of bone 4	OMIM2024Q4	PDB4
+606439_AD:Neuropathy, hereditary sensory, type ID##AD:Spastic paraplegia 3A, autosomal dominant	OMIM2024Q4	ATL1
+606440_AR:Deafness, autosomal recessive 16	OMIM2024Q4	STRC
+606460_.:[Longevity 2]	OMIM2024Q4	LGV2
+606462_AR:?Mungan syndrome##AD:Cornelia de Lange syndrome 4	OMIM2024Q4	RAD21
+606480_AR:Mandibuloacral dysplasia with type B lipodystrophy##AR:Restrictive dermopathy 1	OMIM2024Q4	ZMPSTE24
+606492_AR:Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	OMIM2024Q4	EXOSC5
+606496_.:?Candidiasis, familial, 6, autosomal dominant	OMIM2024Q4	IL17F
+611571_AD:{Otosclerosis 4}	OMIM2024Q4	OTSC4
+611595_AR:Burn-McKeown syndrome	OMIM2024Q4	TXNL4A
+611631_AD:Epilepsy, familial temporal lobe, 4	OMIM2024Q4	ETL4
+611663_AR:Warburg micro syndrome 4	OMIM2024Q4	TBC1D20
+611687_AR:Hydatidiform mole, recurrent, 2	OMIM2024Q4	KHDC3L
+611706_AD:{Migraine, with or without aura, susceptibility to, 12}	OMIM2024Q4	MGR12
+611813_AD/AR:Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies	OMIM2024Q4	ELOVL1
+611888_AD:Chitayat syndrome##AD:Craniosynostosis 4	OMIM2024Q4	ERF
+611897_.:Nanophthalmos 3	OMIM2024Q4	NNO3
+611901_AR:Neuronopathy, distal hereditary motor, autosomal recessive 7	OMIM2024Q4	VWA1
+611974_AR:?Combined oxidative phosphorylation deficiency 34	OMIM2024Q4	MRPS7
+612026_AR:Alazami syndrome	OMIM2024Q4	LARP7
+612030_.:{Coronary heart disease, susceptibility to, 9}	OMIM2024Q4	CHDS9
+612035_AR:Combined oxidative phosphorylation deficiency 8##AR:Leukoencephalopathy, progressive, with ovarian failure	OMIM2024Q4	AARS2
+612089_AD:Hypophosphatemic rickets and hyperparathyroidism	OMIM2024Q4	HPRHP
+612096_AD:Otosclerosis 8	OMIM2024Q4	OTSC8
+612105_.:Cowden syndrome 4	OMIM2024Q4	KLLN
+612120_AR:?Lipodystrophy, familial partial, type 5	OMIM2024Q4	CIDEC
+612243_AR:Lethal congenital contracture syndrome 9	OMIM2024Q4	ADGRG6
+612250_AD/AR/SMu:{Medulloblastoma predisposition syndrome}	OMIM2024Q4	GPR161
+612268_AR:Cone-rod dystrophy 19	OMIM2024Q4	TTLL5
+612312_.:{Attention deficit-hyperactivity disorder, susceptibility to, 6}	OMIM2024Q4	ADHD6
+612354_AD:{Inflammatory bowel disease 21}	OMIM2024Q4	IBD21
+612369_.:{Alkaline phosphatase, plasma level of, QTL4}	OMIM2024Q4	ALPQTL4
+612386_AR:Protoporphyria, erythropoietic, 1	OMIM2024Q4	FECH
+612395_AR:Muscular dystrophy, congenital, megaconial type	OMIM2024Q4	CHKB
+612452_AD:Koolen-De Vries syndrome	OMIM2024Q4	KANSL1
+612498_AR:Myopathy, distal, 5	OMIM2024Q4	ADSS1
+612514_.:{Specific language impairment 4}	OMIM2024Q4	SLI4
+612554_.:Myopia 16	OMIM2024Q4	MYP16
+612579_.:{Stature QTL 16}	OMIM2024Q4	STQTL16
+612581_AD:Intellectual developmental disorder, autosomal dominant 4	OMIM2024Q4	MRD4
+608732_AR:Congenital disorder of glycosylation, type IIn	OMIM2024Q4	SLC39A8
+608749_AD:Cornelia de Lange syndrome 6	OMIM2024Q4	BRD4
+608757_AR:Pontocerebellar hypoplasia, type 10	OMIM2024Q4	CLP1
+608781_.:{Asperger syndrome susceptibility 3}	OMIM2024Q4	ASPG3
+608815_AD:{Epilepsy, juvenile absence, susceptibility to, 1}##AD:{Myoclonic epilepsy, juvenile, susceptibility to, 1}	OMIM2024Q4	EFHC1
+608845_AR:Bardet-Biedl syndrome 3##AR:Retinitis pigmentosa 55##AR/DR:{Bardet-Biedl syndrome 1, modifier of}	OMIM2024Q4	ARL6
+608866_AR:Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	OMIM2024Q4	FRA10AC1
+608869_AR:Urofacial syndrome 2	OMIM2024Q4	LRIG2
+608893_AR:Hartnup disorder	OMIM2024Q4	SLC6A19
+608897_AR:Hemophagocytic lymphohistiocytosis, familial, 3	OMIM2024Q4	UNC13D
+608918_AR:?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	OMIM2024Q4	ATPAF2
+608935_.:{Lung cancer susceptibility}	OMIM2024Q4	LNCR1
+608945_AR:Cryptophthalmos, unilateral or bilateral, isolated##AR:Fraser syndrome 2	OMIM2024Q4	FREM2
+608982_.:{Stature QTL 5}	OMIM2024Q4	STQTL5
+609026_.:{Cataract 28, age-related cortical, susceptibility to}	OMIM2024Q4	CTRCT28
+609062_AD/SMu:{Wilms tumor susceptibility-5}	OMIM2024Q4	POU6F2
+609118_AD:Cerebral cavernous malformations-3	OMIM2024Q4	PDCD10
+609126_AR:Neurodevelopmental disorder with poor growth and behavioral abnormalities	OMIM2024Q4	ATP9A
+609245_AR:Chudley-McCullough syndrome	OMIM2024Q4	GPSM2
+609257_Mu:Myopia 8	OMIM2024Q4	MYP8
+609264_AR:?Microcephaly 24, primary, autosomal recessive	OMIM2024Q4	NUP37
+609390_AR:?Polymicrogyria, bilateral temporooccipital##AD:Amyotrophic lateral sclerosis 11##AR:Charcot-Marie-Tooth disease, type 4J##AR:Yunis-Varon syndrome	OMIM2024Q4	FIG4
+609402_.:Preeclampsia/eclampsia 2	OMIM2024Q4	PEE2
+609413_AR:?De Sanctis-Cacchione syndrome##AR:Cerebrooculofacioskeletal syndrome 1##AR:Cockayne syndrome, type B##AD:Premature ovarian failure 11##AR:UV-sensitive syndrome 1##AD/SMu:{Lung cancer, susceptibility to}##.:{Macular degeneration, age-related, susceptibility to, 5}	OMIM2024Q4	ERCC6
+609449_AR:Lissencephaly 4 (with microcephaly)##AR:Microhydranencephaly	OMIM2024Q4	NDE1
+609570_.:{Migraine, susceptibility to, 8}	OMIM2024Q4	MGR8
+609571_AR:DEGCAGS syndrome	OMIM2024Q4	ZNF699
+609607_AR:Ectodermal dysplasia-syndactyly syndrome 1	OMIM2024Q4	NECTIN4
+609644_AR:Premature ovarian failure 15##AR:Spermatogenic failure 28	OMIM2024Q4	FANCM
+606568_AR:Bardet-Biedl syndrome 17	OMIM2024Q4	LZTFL1
+606585_AD:Amelogenesis imperfecta, type IB##AR:Amelogenesis imperfecta, type IC	OMIM2024Q4	ENAM
+606603_AD:Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant##AR:Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	OMIM2024Q4	EDARADD
+606633_AR:Osteogenesis imperfecta, type XII	OMIM2024Q4	SP7
+606674_.:{Inflammatory bowel disease 6}	OMIM2024Q4	IBD6
+606692_AD:Cardiac, facial, and digital anomalies with developmental delay	OMIM2024Q4	TRAF7
+606702_AR:Polycystic kidney disease 4, with or without hepatic disease	OMIM2024Q4	PKHD1
+606765_AR:Thyroid dyshormonogenesis 2A	OMIM2024Q4	TPO
+606787_.:Peripheral arterial occlusive disease 1	OMIM2024Q4	PAOD1
+606807_AD/AR/DD:Hypogonadotropic hypogonadism 18 with or without anosmia	OMIM2024Q4	IL17RD
+606852_.:{Parkinson disease 10}	OMIM2024Q4	PARK10
+606890_AR:Krabbe disease	OMIM2024Q4	GALC
+606967_AR:Fish-eye disease##AR:Norum disease	OMIM2024Q4	LCAT
+606990_AR:?Microcephaly 19, primary, autosomal recessive##AD:Osteoporosis, childhood- or juvenile-onset, with developmental delay	OMIM2024Q4	COPB2
+606995_AR:Senior-Loken syndrome 3	OMIM2024Q4	SLSN3
+607005_AR:Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	OMIM2024Q4	GEMIN5
+607008_AR:Acyl-CoA dehydrogenase, medium chain, deficiency of	OMIM2024Q4	ACADM
+607009_AR:Hypomagnesemia 1, intestinal	OMIM2024Q4	TRPM6
+607057_AR:Pseudo-TORCH syndrome 2	OMIM2024Q4	USP18
+607063_AR:Bruck syndrome 1##AR:Osteogenesis imperfecta, type XI	OMIM2024Q4	FKBP10
+607100_AR:Joubert syndrome 4##AR:Nephronophthisis 1, juvenile##AR:Senior-Loken syndrome-1	OMIM2024Q4	NPHP1
+607107_.:{Nasopharyngeal carcinoma 1}##.:Nasopharyngeal carcinoma, somatic	OMIM2024Q4	NPCA1
+607123_AD:Hypogonadotropic hypogonadism 3 with or without anosmia	OMIM2024Q4	PROKR2
+607170_AD:Atrioventricular septal defect, partial, with heterotaxy syndrome##AR:Jeffries-Lakhani neurodevelopmental syndrome##AD:{Atrioventricular septal defect, susceptibility to, 2}	OMIM2024Q4	CRELD1
+607194_AR:Pancreatic agenesis 2##AR:Pancreatic and cerebellar agenesis	OMIM2024Q4	PTF1A
+607206_AR:Ichthyosis, congenital, autosomal recessive 3	OMIM2024Q4	ALOXE3
+607223_AR:Dentin dysplasia, type I, with microdontia and misshapen teeth	OMIM2024Q4	SMOC2
+607237_AR:Deafness, autosomal recessive 6	OMIM2024Q4	TMIE
+607270_AD:Intellectual developmental disorder, autosomal dominant 26	OMIM2024Q4	AUTS2
+607289_AR:Hermansky-Pudlak syndrome 11	OMIM2024Q4	BLOC1S5
+607301_AD:Retinitis pigmentosa 18	OMIM2024Q4	PRPF3
+607306_AR:Pseudovaginal perineoscrotal hypospadias	OMIM2024Q4	SRD5A2
+607311_AR:?Progesterone resistance	OMIM2024Q4	PGR
+607331_AD:?Retinitis pigmentosa 9	OMIM2024Q4	RP9
+607381_AR:3-methylglutaconic aciduria, type IX	OMIM2024Q4	TIMM50
+607421_AR:?Ciliary dyskinesia, primary, 6	OMIM2024Q4	NME8
+607472_AR:?Optic atrophy 11	OMIM2024Q4	YME1L1
+607488_AD:Dystonia-15, myoclonic	OMIM2024Q4	DYT15
+607499_Mu:{Bulimia nervosa, susceptibility to}	OMIM2024Q4	BULN
+607511_AR:Weill-Marchesani 4 syndrome, recessive	OMIM2024Q4	ADAMTS17
+607513_AR:Cardiac valvular dysplasia 2	OMIM2024Q4	ADAMTS19
+607522_AR:Hermansky-Pudlak syndrome 6	OMIM2024Q4	HPS6
+607536_.:Mucoepidermoid salivary gland carcinoma	OMIM2024Q4	CRTC1
+607574_AR:Metachromatic leukodystrophy	OMIM2024Q4	ARSA
+607584_AR:Spastic paraplegia 24, autosomal recessive	OMIM2024Q4	SPG24
+614668_.:Stuttering, familial persistent, 4	OMIM2024Q4	STUT4
+614677_AR:Ciliary dyskinesia, primary, 17	OMIM2024Q4	DNAAF19
+614683_AR:[?Phosphohydroxylysinuria]	OMIM2024Q4	PHYKPL
+614746_.:[Uric acid concentration, serum, QTL5]	OMIM2024Q4	UAQTL5
+614757_AD:Osteogenesis imperfecta, type V	OMIM2024Q4	IFITM5
+614770_AR:Mitochondrial complex IV deficiency, nuclear type 12	OMIM2024Q4	PET100
+614772_AR:Mitochondrial complex IV deficiency, nuclear type 13	OMIM2024Q4	COA6
+614848_AR:Nephronophthisis 15	OMIM2024Q4	CEP164
+614901_AR:Branched-chain keto acid dehydrogenase kinase deficiency	OMIM2024Q4	BCKDK
+614951_AR:Diamond-Blackfan anemia 21	OMIM2024Q4	HEATR3
+614958_AD:Bleeding disorder, platelet-type, 20	OMIM2024Q4	SLFN14
+614982_AD:Bosma arhinia microphthalmia syndrome##DD:Facioscapulohumeral muscular dystrophy 2, digenic	OMIM2024Q4	SMCHD1
+615016_AD:[C3HEX, ability to smell]	OMIM2024Q4	OR2J3
+615038_AR:Ciliary dyskinesia, primary, 20	OMIM2024Q4	ODAD1
+615076_AR:Mitochondrial DNA depletion syndrome 11	OMIM2024Q4	MGME1
+615163_AD:Cone-rod dystrophy 17	OMIM2024Q4	CORD17
+615175_AR:Cone-rod dystrophy 22	OMIM2024Q4	TLCD3B
+615345_AR:Carey-Fineman-Ziter syndrome	OMIM2024Q4	MYMK
+615354_DR:?Facioscapulohumeral muscular dystrophy 3, digenic	OMIM2024Q4	LRIF1
+615390_.:Vesicoureteral reflux 7	OMIM2024Q4	VUR7
+615423_AR:Combined oxidative phosphorylation deficiency 30	OMIM2024Q4	TRMT10C
+615462_AR:Short-rib thoracic dysplasia 8 with or without polydactyly	OMIM2024Q4	DYNC2I1
+615495_AR:Alacrima, achalasia, and impaired intellectual development syndrome	OMIM2024Q4	GMPPA
+615549_AD:{ACTH-independent macronodular adrenal hyperplasia 2}	OMIM2024Q4	ARMC5
+615589_AD:Otosclerosis 10	OMIM2024Q4	OTSC10
+612639_.:{Inflammatory bowel disease 26}	OMIM2024Q4	IBD26
+612719_AR:Hyperphenylalaninemia, BH4-deficient, A	OMIM2024Q4	PTS
+612724_AR:Fructose intolerance, hereditary	OMIM2024Q4	ALDOB
+612770_AR:Liberfarb syndrome	OMIM2024Q4	PISD
+612801_AR:Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	OMIM2024Q4	IARS2
+612804_AR:Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	OMIM2024Q4	SARS2
+612805_AR:Combined oxidative phosphorylation deficiency 21	OMIM2024Q4	TARS2
+612834_AR:Osteogenesis imperfecta, type XXIII	OMIM2024Q4	PHLDB1
+612851_.:{Narcolepsy 5}	OMIM2024Q4	NRCLP5
+612862_.:{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}	OMIM2024Q4	CTEPH1
+612882_.:{Menarche, age at, QTL2}	OMIM2024Q4	MENAQ2
+612895_AR:Robinow syndrome, autosomal recessive 2	OMIM2024Q4	NXN
+612911_AR:Mitochondrial complex I deficiency, nuclear type 18	OMIM2024Q4	NDUFAF3
+612991_AD:Shashi-Pena syndrome	OMIM2024Q4	ASXL2
+612994_AR:Cone-rod dystrophy 18	OMIM2024Q4	RAB28
+613019_AD:Pheochromocytoma/paraganglioma syndrome 2	OMIM2024Q4	SDHAF2
+613067_.:{Leukemia, acute lymphoblastic, susceptibility to, 2}	OMIM2024Q4	ALL2
+613085_.:Glaucoma 3, primary congenital, C	OMIM2024Q4	GLC3C
+613129_AR:Cerebroretinal microangiopathy with calcifications and cysts	OMIM2024Q4	CTC1
+613169_AR:{Hodgkin lymphoma, susceptibility to}	OMIM2024Q4	KLHDC8B
+613176_AR:Heart and brain malformation syndrome##AR:Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies	OMIM2024Q4	SMG9
+613183_AR:Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	OMIM2024Q4	BOLA3
+613233_.:[Fasting plasma glucose level QTL 3]	OMIM2024Q4	FGQTL3
+613269_.:Corneal dystrophy, Fuchs endothelial, 5	OMIM2024Q4	FECD5
+613271_.:Corneal dystrophy, Fuchs endothelial, 7	OMIM2024Q4	FECD7
+613283_AR:Deafness, autosomal recessive 25	OMIM2024Q4	GRXCR1
+613326_AR:Dihydropyrimidinuria	OMIM2024Q4	DPYS
+613497_AR:Cholesteryl ester storage disease##AR:Wolman disease	OMIM2024Q4	LIPA
+613524_AR:Bardet-Biedl syndrome 16##AR:Senior-Loken syndrome 7	OMIM2024Q4	SDCCAG8
+613597_AR:Hyperoxaluria, primary, type III	OMIM2024Q4	HOGA1
+613602_AR:Cranioectodermal dysplasia 2##AR:Short-rib thoracic dysplasia 7 with or without polydactyly	OMIM2024Q4	WDR35
+613606_AR:Forsythe-Wakeling syndrome	OMIM2024Q4	FWS
+613609_AR:Hemochromatosis, type 1	OMIM2024Q4	HFE
+613619_AR:Van den Ende-Gupta syndrome	OMIM2024Q4	SCARF2
+609648_AD:Familial cold autoinflammatory syndrome 2	OMIM2024Q4	NLRP12
+609653_AR:Mitochondrial complex I deficiency, nuclear type 10	OMIM2024Q4	NDUFAF2
+609695_AD:Hawkinsinuria##AR:Tyrosinemia, type III	OMIM2024Q4	HPD
+609825_AR:Coenzyme Q10 deficiency, primary, 1##AD/AR:{Multiple system atrophy, susceptibility to}	OMIM2024Q4	COQ2
+609845_AR:Sucrase-isomaltase deficiency, congenital	OMIM2024Q4	SI
+609853_AR:Cardiomyopathy, dilated, 2C	OMIM2024Q4	PPCS
+609855_AR:Neurodegeneration with brain iron accumulation 6##AR:Pontocerebellar hypoplasia, type 12	OMIM2024Q4	COASY
+609868_AR:Leber congenital amaurosis 3##AR:Retinitis pigmentosa 94, variable age at onset, autosomal recessive	OMIM2024Q4	SPATA7
+609888_.:{Leprosy, paucibacillary type, susceptibility to}	OMIM2024Q4	LPRS
+609891_AR:?Spondylocostal dysostosis 6	OMIM2024Q4	RIPPLY2
+609910_AR:Spermatogenic failure 51	OMIM2024Q4	CFAP91
+609918_.:Gallbladder disease 2	OMIM2024Q4	GBD2
+609922_.:{Prostate cancer, hereditary, 12}	OMIM2024Q4	EHBP1
+609995_.:Myopia 12	OMIM2024Q4	MYP12
+610057_AR:Intellectual developmental disorder, autosomal recessive 14	OMIM2024Q4	TECR
+610087_AR:Short stature, brachydactyly, intellectual developmental disability, and seizures	OMIM2024Q4	PRMT7
+610110_AD:Dystonia 24	OMIM2024Q4	ANO3
+610148_AR:Bardet-Biedl syndrome 10	OMIM2024Q4	BBS10
+610166_AR:Intellectual developmental disorder with short stature and behavioral abnormalities	OMIM2024Q4	IQSEC1
+610232_AR:Pulmonary hypertension, primary, 5	OMIM2024Q4	ATP13A3
+610271_AR:Developmental and epileptic encephalopathy 95	OMIM2024Q4	PIGS
+610284_AR:Lipoyltransferase 1 deficiency	OMIM2024Q4	LIPT1
+610299_AR:Intellectual developmental disorder, autosomal recessive 48	OMIM2024Q4	SLC6A17
+610330_AR:Aicardi-Goutieres syndrome 3	OMIM2024Q4	RNASEH2C
+610361_AD:Orofacial cleft 9	OMIM2024Q4	OFC9
+610376_AR:?Oculomotor-abducens synkinesis	OMIM2024Q4	ACKR3
+610420_AD:Preauricular tag, isolated, autosomal dominant, 1	OMIM2024Q4	PAURT1
+610422_AR:Alopecia-intellectual disability syndrome 2	OMIM2024Q4	APMR2
+610423_AD:Developmental and epileptic encephalopathy 66	OMIM2024Q4	PACS2
+610432_AD:Tenorio syndrome	OMIM2024Q4	RNF125
+610453_AR:Mucopolysaccharidosis type IIIC (Sanfilippo C)##AR:Retinitis pigmentosa 73	OMIM2024Q4	HGSNAT
+610538_AR:Fanconi anemia, complementation group T	OMIM2024Q4	UBE2T
+610540_AD:Pseudohypoparathyroidism Ib	OMIM2024Q4	GNAS-AS1
+610568_AD:Paget disease of bone 6	OMIM2024Q4	ZNF687
+610648_AD:Developmental and epileptic encephalopathy 67	OMIM2024Q4	CUX2
+610661_AR:Congenital disorder of deglycosylation 1	OMIM2024Q4	NGLY1
+610672_AD:Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	OMIM2024Q4	NACC1
+610685_.:Split-hand/foot malformation with long bone deficiency 2	OMIM2024Q4	SHFLD2
+610693_AR:Hydrolethalus syndrome	OMIM2024Q4	HYLS1
+607669_AR:Spastic paraplegia 61, autosomal recessive	OMIM2024Q4	ARL6IP1
+607752_AR:Ciliary dyskinesia, primary, 29	OMIM2024Q4	CCNO
+607857_.:{Psoriasis susceptibility 9}	OMIM2024Q4	PSORS9
+607915_AR:Spastic paraplegia 81, autosomal recessive	OMIM2024Q4	SELENOI
+607998_AR:Ceroid lipofuscinosis, neuronal, 2##AR:Spinocerebellar ataxia, autosomal recessive 7	OMIM2024Q4	TPP1
+608026_.:Hypertensive nephropathy	OMIM2024Q4	HNP1
+608035_AD:{Melanoma, cutaneous malignant, 4}	OMIM2024Q4	CMM4
+608047_AR:Kaufman oculocerebrofacial syndrome	OMIM2024Q4	UBE3B
+608049_IC/Mu:{Autism susceptibility 3}	OMIM2024Q4	AUTS3
+608086_AR:Portal hypertension, noncirrhotic, 2	OMIM2024Q4	GIMAP5
+608111_AR:Fanconi anemia, complementation group L	OMIM2024Q4	FANCL
+608124_AR:Desbuquois dysplasia 2##AR:{Pseudoxanthoma elasticum, modifier of severity of}	OMIM2024Q4	XYLT1
+608136_AD:?Slowed nerve conduction velocity, AD	OMIM2024Q4	ARHGEF10
+608145_AD:Spastic paraplegia 6, autosomal dominant	OMIM2024Q4	NIPA1
+608171_AR:Retinal cone dystrophy 4	OMIM2024Q4	CACNA2D4
+608179_AR:Ataxia, cerebellar, Cayman type	OMIM2024Q4	ATCAY
+608201_AR:Microcephaly 3, primary, autosomal recessive	OMIM2024Q4	CDK5RAP2
+608220_AR:Spastic paraplegia 25, autosomal recessive	OMIM2024Q4	SPG25
+608256_AD:Atrial fibrillation, familial, 17##AD:Long QT syndrome 10	OMIM2024Q4	SCN4B
+608258_AR:Hatipoglu immunodeficiency syndrome	OMIM2024Q4	DPP9
+608367_AD:Myopia 17	OMIM2024Q4	MYP17
+608371_.:Orofacial cleft 4	OMIM2024Q4	OFC4
+608383_AD:Ritscher-Schinzel syndrome 4	OMIM2024Q4	DPYSL5
+608428_AR:Focal facial dermal dysplasia 4	OMIM2024Q4	CYP26C1
+608439_AD:Intellectual developmental disorder, autosomal dominant 57	OMIM2024Q4	TLK2
+608448_.:{Inflammatory bowel disease 9}	OMIM2024Q4	IBD9
+608455_AR:McArdle disease	OMIM2024Q4	PYGM
+608473_AR:Rothmund-Thomson syndrome, type 1	OMIM2024Q4	ANAPC1
+608480_AD/AR:Spermatogenic failure 3	OMIM2024Q4	SLC26A8
+608517_AD:Cardiomyopathy, dilated, 1KK##AD:Cardiomyopathy, familial restrictive, 4##AD:Cardiomyopathy, hypertrophic, 22##AR:Congenital myopathy 24	OMIM2024Q4	MYPN
+608536_AR:Combined oxidative phosphorylation deficiency 23	OMIM2024Q4	GTPBP3
+608545_IC:Larsen-like syndrome	OMIM2024Q4	LRSL
+608547_AR:Vitamin K-dependent clotting factors, combined deficiency of, 2##AD:Warfarin resistance	OMIM2024Q4	VKORC1
+608557_.:{Myocardial infarction, susceptibility to, 2}	OMIM2024Q4	MCI2
+608593_AD:Nephropathy due to CFHR5 deficiency	OMIM2024Q4	CFHR5
+613719_AR:Deafness, autosomal recessive 74	OMIM2024Q4	MSRB3
+613798_AR:Ciliary dyskinesia, primary, 14	OMIM2024Q4	CCDC39
+613806_.:Cholangitis, primary sclerosing	OMIM2024Q4	PSC
+613844_AR:?Mitochondrial complex III deficiency, nuclear type 11	OMIM2024Q4	UQCRH
+613868_.:[Blood group, Kidd]	OMIM2024Q4	SLC14A1
+613883_.:[Blood group, Kell]	OMIM2024Q4	KEL
+613899_AR:Fanconi anemia, complementation group C	OMIM2024Q4	FANCC
+613900_AD:Spinocerebellar ataxia 35	OMIM2024Q4	TGM6
+613932_AD:Cardiac conduction disease with or without dilated cardiomyopathy	OMIM2024Q4	TNNI3K
+614151_AR:?Fanconi anemia, complementation group W	OMIM2024Q4	RFWD3
+614184_AR:Perlman syndrome	OMIM2024Q4	DIS3L2
+614194_AR:Adams-Oliver syndrome 2	OMIM2024Q4	DOCK6
+614208_AR:Intellectual developmental disorder, autosomal recessive 16	OMIM2024Q4	MRT16
+614218_AR:Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2##AR:Hydrocephalus, congenital, 3, with brain anomalies	OMIM2024Q4	WDR81
+614227_AD:Hyperuricemic nephropathy, familial juvenile, 3	OMIM2024Q4	HNFJ3
+614319_.:Vesicoureteral reflux 6	OMIM2024Q4	VUR6
+614333_AR:Intellectual developmental disorder, autosomal recessive 29	OMIM2024Q4	MRT29
+614479_AR:Optic atrophy 15	OMIM2024Q4	MCAT
+614535_AR:?Ovarian dysgenesis 10##AR:Spermatogenic failure 71	OMIM2024Q4	ZSWIM7
+614556_AD:Coffin-Siris syndrome 1	OMIM2024Q4	ARID1B
+614590_.:{Podoconiosis, susceptibility to}	OMIM2024Q4	PDCOS
+614655_.:Stuttering, familial persistent, 3	OMIM2024Q4	STUT3
+614692_.:{?Membranous nephropathy, susceptibility to}	OMIM2024Q4	MBNP
+614725_AR:3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	OMIM2024Q4	SERAC1
+610745_AR:Microphthalmia, isolated, with coloboma 8##AR:Microphthalmia, syndromic 9	OMIM2024Q4	STRA6
+610764_AR:?Dystonia 22, adult-onset##AR:Dystonia 22, juvenile-onset	OMIM2024Q4	TSPOAP1
+610838_.:{Autism susceptibility 12}	OMIM2024Q4	AUTS12
+610876_AR:Spastic paraplegia and psychomotor retardation with or without seizures	OMIM2024Q4	HACE1
+610924_AR:Polyglucosan body myopathy 1 with or without immunodeficiency	OMIM2024Q4	RBCK1
+611004_.:{Smoking as a quantitative trait locus 2}	OMIM2024Q4	SQTL2
+611010_.:Fibromatosis, gingival, 4	OMIM2024Q4	GINGF4
+611034_AD:[Uric acid concentration, serum, QTL4]##AD:{Gout susceptibility 4}	OMIM2024Q4	SLC17A3
+611037_AR:Combined oxidative phosphorylation deficiency 28	OMIM2024Q4	SLC25A26
+611149_AR:Ziegler-Huang syndrome	OMIM2024Q4	SLC30A7
+611153_AR:Xeroderma pigmentosum, group A	OMIM2024Q4	XPA
+611211_AR:Amelogenesis imperfecta, type IIIC	OMIM2024Q4	RELT
+611219_AR:Osteootohepatoenteric syndrome	OMIM2024Q4	UNC45A
+611282_AR:Cataract 48	OMIM2024Q4	DNMBP
+611295_AR:Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies##AD:Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy	OMIM2024Q4	KLHL24
+611313_.:{Macular degeneration, age-related, 8}	OMIM2024Q4	ARMS2
+611357_AR:Osteogenesis imperfecta, type XVIII	OMIM2024Q4	TENT5A
+611379_AD:Intellectual developmental disorder, autosomal dominant, FRA12A type	OMIM2024Q4	DIP2B
+611382_.:{Kala-azar, susceptibility to, 3}	OMIM2024Q4	KAZA3
+611403_.:{Asthma-related traits, susceptibility to, 6}	OMIM2024Q4	ASRT6
+611536_.:{Major affective disorder 6}	OMIM2024Q4	MAFD6
+611539_AD:{Autoimmune disease, susceptibility to, 1}	OMIM2024Q4	FOXD3
+611598_.:{Autoimmune disease, susceptibility to, 5}##.:{Celiac disease, susceptibility to, 6}	OMIM2024Q4	CELIAC6
+611604_AR:Spastic paraplegia 62, autosomal recessive	OMIM2024Q4	ERLIN1
+611611_AR:Intellectual developmental disorder and retinitis pigmentosa	OMIM2024Q4	SCAPER
+615684_AR:Premature ovarian failure 9	OMIM2024Q4	HFM1
+615929_AD:Chopra-Amiel-Gordon syndrome	OMIM2024Q4	ANKRD17
+615944_AR:Orofaciodigital syndrome XIV	OMIM2024Q4	C2CD3
+615950_AR:Centronuclear myopathy 5	OMIM2024Q4	SPEG
+616097_AR:?Mitochondrial complex III deficiency, nuclear type 9	OMIM2024Q4	UQCC3
+616120_AR:Spinocerebellar ataxia, autosomal recessive 17	OMIM2024Q4	CWF19L1
+616144_AR:Galloway-Mowat syndrome 1	OMIM2024Q4	WDR73
+616146_AR:Catel-Manzke syndrome	OMIM2024Q4	TGDS
+616174_AR:Filippi syndrome	OMIM2024Q4	CKAP2L
+616416_AD:Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	OMIM2024Q4	ADGRL1
+616432_AR:Retinitis pigmentosa 78	OMIM2024Q4	ARHGEF18
+616601_AR:Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities	OMIM2024Q4	BORCS8
+608630_AR:Gaze palsy, familial horizontal, with progressive scoliosis, 1	OMIM2024Q4	ROBO3
+608646_AR:Ciliary dyskinesia, primary, 4	OMIM2024Q4	CILD4
+608662_AD:Gnathodiaphyseal dysplasia##AR:Miyoshi muscular dystrophy 3##AR:Muscular dystrophy, limb-girdle, autosomal recessive 12	OMIM2024Q4	ANO5
+608665_AR:Ovarian dysgenesis 3	OMIM2024Q4	PSMC3IP
+608677_AD:Left ventricular noncompaction 7	OMIM2024Q4	MIB1
+608680_AR:Galloway-Mowat syndrome 5	OMIM2024Q4	TPRKB
+608742_Mu:{Hypertension, essential, susceptibility to, 4}	OMIM2024Q4	HYT4
+608761_AR:Myasthenic syndrome, congenital, 20, presynaptic##AD:Neuronopathy, distal hereditary motor, autosomal dominant 7	OMIM2024Q4	SLC5A7
+608786_AR:Pyruvate carboxylase deficiency	OMIM2024Q4	PC
+608787_AD:Otosclerosis 5	OMIM2024Q4	OTSC5
+608801_AR:Glutaricaciduria, type I	OMIM2024Q4	GCDH
+608816_.:Epilepsy, juvenile myoclonic 3	OMIM2024Q4	EJM3
+608829_.:{Diabetes mellitus, insulin-dependent, 5}	OMIM2024Q4	SUMO4
+608879_AR:Parkinson disease 23, autosomal recessive, early onset	OMIM2024Q4	VPS13C
+608892_AD:CHARGE syndrome##AD:Hypogonadotropic hypogonadism 5 with or without anosmia	OMIM2024Q4	CHD7
+608896_AR:Muscular dystrophy, limb-girdle, autosomal recessive 5	OMIM2024Q4	SGCG
+608985_AD:Luo-Schoch-Yamamoto syndrome	OMIM2024Q4	RNF2
+608990_AR:Weill-Marchesani syndrome 1, recessive	OMIM2024Q4	ADAMTS10
+609014_AR:3-Methylcrotonyl-CoA carboxylase 2 deficiency	OMIM2024Q4	MCCC2
+609063_AR:?Combined oxidative phosphorylation deficiency 29	OMIM2024Q4	TXN2
+609119_AR:?Methylmalonic aciduria and homocystinuria, cblL type##AD:Spinocerebellar ataxia 51	OMIM2024Q4	THAP11
+609173_AR:Microcephaly 4, primary, autosomal recessive	OMIM2024Q4	KNL1
+609253_AD:Febrile seizures, familial, 6	OMIM2024Q4	45694
+609289_AD:Syncope, familial vasovagal	OMIM2024Q4	VVS
+609302_AR:Developmental and epileptic encephalopathy 3	OMIM2024Q4	SLC25A22
+609376_AR:Cataract 35, congenital nuclear	OMIM2024Q4	CTRCT35
+609397_AD:Preeclampsia/eclampsia 4	OMIM2024Q4	STOX1
+609414_AD:Corneal fleck dystrophy	OMIM2024Q4	PIKFYVE
+609479_AR:Centronuclear myopathy 6 with fiber-type disproportion##AR:Split-foot malformation with mesoaxial polydactyly	OMIM2024Q4	MAP3K20
+609489_AR:Mannosidosis, beta	OMIM2024Q4	MANBA
+609510_AD:?Amyloidosis, primary localized cutaneous, 2	OMIM2024Q4	IL31RA
+609520_AD:Dystonia 6, torsion	OMIM2024Q4	THAP1
+609552_AD:?Intellectual developmental disorder, autosomal dominant 69##AR:?Intellectual developmental disorder, autosomal recessive 52	OMIM2024Q4	LMAN2L
+609557_AR:Myasthenic syndrome, congenital, 22	OMIM2024Q4	PREPL
+609577_AR:3-M syndrome 1	OMIM2024Q4	CUL7
+609578_.:Cardiomyopathy, familial restrictive, 2	OMIM2024Q4	RCM2
+609610_AR:Microcephaly and chorioretinopathy, autosomal recessive, 3	OMIM2024Q4	TUBGCP4
+609669_.:Glaucoma 1, open angle, G	OMIM2024Q4	WDR36
+609671_AD:?Anemia, hypochromic microcytic, with iron overload 2	OMIM2024Q4	STEAP3
+609689_AR:Cone-rod dystrophy and hearing loss 2	OMIM2024Q4	CEP250
+609690_AR:Rajab interstitial lung disease with brain calcifications 1	OMIM2024Q4	FARSB
+609691_AD:Cardiomyopathy, familial hypertrophic, 28	OMIM2024Q4	FHOD3
+609701_AD:?Charcot-Marie-Tooth disease, axonal, type 2V##AR:Mucopolysaccharidosis type IIIB (Sanfilippo B)	OMIM2024Q4	NAGLU
+609702_AR:?Proteasome-associated autoinflammatory syndrome 4	OMIM2024Q4	PSMG2
+611729_AR:Spastic paraplegia, optic atrophy, and neuropathy	OMIM2024Q4	KLC2
+611731_.:Adenoma, periampullary, somatic##AD:Adenomatous polyposis coli##AD:Brain tumor-polyposis syndrome 2##.:Colorectal cancer, somatic##AD:Desmoid disease, hereditary##AD:Gardner syndrome##AD:Gastric adenocarcinoma and proximal polyposis of the stomach##.:Gastric cancer, somatic##.:Hepatoblastoma, somatic	OMIM2024Q4	APC
+611765_AD:Ichthyosis, lamellar, autosomal dominant	OMIM2024Q4	ASPRV1
+611770_.:Conotruncal heart malformations##.:Persistent truncus arteriosus	OMIM2024Q4	NKX2-6
+611805_AD:Spinocerebellar ataxia 38	OMIM2024Q4	ELOVL5
+611951_AR:?Meckel syndrome 10##AR:Joubert syndrome 34	OMIM2024Q4	B9D2
+612003_.:{Parkinson disease 11}	OMIM2024Q4	GIGYF2
+612005_.:{Celiac disease, susceptibility to, 7}	OMIM2024Q4	CELIAC7
+612009_.:{Celiac disease, susceptibility to, 11}	OMIM2024Q4	CELIAC11
+612011_.:{Celiac disease, susceptibility to, 13}	OMIM2024Q4	CELIAC13
+612082_AD:Intellectual developmental disorder, autosomal dominant 45	OMIM2024Q4	CIC
+612127_AD:{Fatty liver disease, protection from}	OMIM2024Q4	HSD17B13
+612162_.:Aneurysm, intracranial berry, 8	OMIM2024Q4	ANIB8
+612163_.:[Skin/hair/eye pigmentation 10, blond/brown hair]	OMIM2024Q4	TPCN2
+612186_AD:?Deafness, autosomal dominant 71##AR:?Polyendocrine-polyneuropathy syndrome##AR:Developmental and epileptic encephalopathy 81	OMIM2024Q4	DMXL2
+612222_AR:Mucopolysaccharidosis IVA	OMIM2024Q4	GALNS
+612224_.:{Stature QTL 12}	OMIM2024Q4	STQTL12
+612226_.:{Stature QTL 13}	OMIM2024Q4	STQTL13
+612239_.:{Scoliosis, idiopathic, susceptibility to, 5}	OMIM2024Q4	IS5
+612254_.:{Systemic lupus erythematosus, susceptibility to, 12}	OMIM2024Q4	SLEB12
+612262_.:{Inflammatory bowel disease 18}	OMIM2024Q4	IBD18
+612346_AR:?Glutathioninuria	OMIM2024Q4	GGT1
+612348_.:?Thrombophilia 9 due to decreased release of tissue plasminogen	OMIM2024Q4	THPH9
+612360_AR:Mitochondrial complex I deficiency, nuclear type 16	OMIM2024Q4	NDUFAF5
+612380_.:{Inflammatory bowel disease 22}	OMIM2024Q4	IBD22
+612392_AR:Fanconi renotubular syndrome 5##AR:Mitochondrial complex I deficiency, nuclear type 17	OMIM2024Q4	NDUFAF6
+612411_AR:Hennekam lymphangiectasia-lymphedema syndrome 2##AR:Van Maldergem syndrome 2	OMIM2024Q4	FAT4
+612525_.:Pyloric stenosis, infantile hypertrophic, 5	OMIM2024Q4	IHPS5
+612559_.:{Leukemia, chronic lymphocytic susceptibility to, 5}	OMIM2024Q4	CLLS5
+612566_.:{Inflammatory bowel disease 24}	OMIM2024Q4	IBD24
+612589_.:{Colorectal cancer, susceptibility to, 8}	OMIM2024Q4	CRCS8
+612590_.:{Colorectal cancer, susceptibility to, 9}	OMIM2024Q4	CRCS9
+612625_AR:Methylmalonic aciduria and homocystinuria, cblF type	OMIM2024Q4	LMBRD1
+612629_.:{Adiponectin, serum level of, QTL4}	OMIM2024Q4	ADIPQTL4
+612632_.:Usher syndrome, type 1H	OMIM2024Q4	USH1H
+612660_AD:Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	OMIM2024Q4	RFX7
+612688_AR:RIDDLE syndrome	OMIM2024Q4	RNF168
+612717_AD:Myopia 15	OMIM2024Q4	MYP15
+612799_AR:Combined oxidative phosphorylation deficiency 12	OMIM2024Q4	EARS2
+614789_AR:Adams-Oliver syndrome 4	OMIM2024Q4	EOGT
+614918_AR:Combined oxidative phosphorylation deficiency 51	OMIM2024Q4	PTCD3
+614936_AD:Keratoderma, palmoplantar, punctate type IB	OMIM2024Q4	PPKP1B
+614984_AD:?Charcot-Marie-Tooth disease, axonal, type 2Q##AR:Alpha-aminoadipic and alpha-ketoadipic aciduria	OMIM2024Q4	DHTKD1
+615162_AR:Intellectual developmental disorder, autosomal recessive 35	OMIM2024Q4	MRT35
+615204_AR:Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6	OMIM2024Q4	ATP5MK
+615312_AR:Albinism, oculocutaneous, type V	OMIM2024Q4	OCA5
+615322_AR:Seizures, early-onset, with neurodegeneration and brain calcification	OMIM2024Q4	NRROS
+615329_AR:Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	OMIM2024Q4	EXOC2
+615358_AR:Spermatogenic failure 89	OMIM2024Q4	AK9
+615364_AR:?Spermatogenic failure 27	OMIM2024Q4	AK7
+615407_AR:Retinitis pigmentosa 82 with or without situs inversus	OMIM2024Q4	ARL2BP
+615496_AD:Corneal dystrophy, Fuchs endothelial, 8	OMIM2024Q4	AGBL1
+615584_AD:Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	OMIM2024Q4	FAM111B
+615585_AR:Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis	OMIM2024Q4	SLC38A8
+615611_AD:?Protoporphyria, erythropoietic, 2	OMIM2024Q4	CLPX
+615674_AD:Dowling-Degos disease 3	OMIM2024Q4	DDD3
+615720_AR:Retinitis pigmentosa 68	OMIM2024Q4	SLC7A14
+615748_AR:Intellectual developmental disorder, autosomal recessive 43	OMIM2024Q4	WASHC4
+609727_AD:Spastic paraplegia 29, autosomal dominant	OMIM2024Q4	SPG29
+609754_.:{Celiac disease, susceptibility to, 2}	OMIM2024Q4	CELIAC2
+609762_AR:Hermansky-Pudlak syndrome 8	OMIM2024Q4	BLOC1S3
+609787_AD:Spastic paraplegia 80, autosomal dominant	OMIM2024Q4	UBAP1
+609791_AR:Intellectual developmental disorder, autosomal recessive 64	OMIM2024Q4	LINGO1
+609797_AD:Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant##AD:Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	OMIM2024Q4	BICD2
+609798_AR:?Arthrogryposis, Perthes disease, and upward gaze palsy##AR:Lethal congenital contracture syndrome 10##.:Nevus comedonicus, somatic	OMIM2024Q4	NEK9
+609831_AR:Methylmalonic aciduria and homocystinuria, cblC type	OMIM2024Q4	MMACHC
+609842_AR:?Intellectual developmental disorder, autosomal recessive 50	OMIM2024Q4	EDC3
+609862_AR:Iron-refractory iron deficiency anemia	OMIM2024Q4	TMPRSS6
+609927_AR:Spastic paraplegia 53, autosomal recessive	OMIM2024Q4	VPS37A
+609941_AR:Deafness, autosomal recessive 51	OMIM2024Q4	DFNB51
+609952_AR:Deafness, autosomal recessive 55	OMIM2024Q4	DFNB55
+610032_AD:Muscular dystrophy, limb-girdle, autosomal dominant 2	OMIM2024Q4	TNPO3
+610062_AR:Ciliary dyskinesia, primary, 16	OMIM2024Q4	DNAL1
+610064_.:{Opioid dependence, susceptibility to, 1}	OMIM2024Q4	ODS1
+610089_AR:Infantile liver failure syndrome 3	OMIM2024Q4	RINT1
+610113_AR:Ectopia lentis et pupillae##AR:Ectopia lentis, isolated, autosomal recessive	OMIM2024Q4	ADAMTSL4
+610142_AR:?Bardet-Biedl syndrome 14##AR:Joubert syndrome 5##.:Leber congenital amaurosis 10##AR:Meckel syndrome 4##AR:Senior-Loken syndrome 6	OMIM2024Q4	CEP290
+610178_AR:Joubert syndrome 23##AR:Short-rib thoracic dysplasia 14 with polydactyly	OMIM2024Q4	KIAA0586
+610266_AD:Developmental delay with or without intellectual impairment or behavioral abnormalities	OMIM2024Q4	TAOK1
+610277_AR:Immunodeficiency 9##AD:Myopathy, tubular aggregate, 2	OMIM2024Q4	ORAI1
+610295_.:{Intelligence QTL3}	OMIM2024Q4	INTLQ2
+610345_AR:Cataract 38, autosomal recessive##AR:Sengers syndrome	OMIM2024Q4	AGK
+610362_.:?Macular degeneration, age-related, 6##AD:Cone-rod dystrophy 11##AR:Retinitis pigmentosa 95	OMIM2024Q4	RAX2
+610464_AR:Deafness, autosomal recessive 121	OMIM2024Q4	GPR156
+610528_AD:Intellectual developmental disorder with autism and macrocephaly	OMIM2024Q4	CHD8
+610553_AR:Leukodystrophy, hypomyelinating, 14	OMIM2024Q4	UFM1
+610575_AR:?Humerofemoral hypoplasia with radiotibial ray deficiency##AR:Tetraamelia syndrome 2	OMIM2024Q4	RSPO2
+610624_AR:Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	OMIM2024Q4	ADPRS
+610635_.:Barrett esophagus/esophageal adenocarcinoma	OMIM2024Q4	CTHRC1
+610753_AD/AR:Alopecia areata 2	OMIM2024Q4	AA2
+610767_.:{Inflammatory bowel disease (Crohn disease) 10}	OMIM2024Q4	ATG16L1
+616658_AR:Combined oxidative phosphorylation deficiency 37	OMIM2024Q4	MICOS13
+616799_AR:Premature ovarian failure 24	OMIM2024Q4	SYCP2L
+616951_AD:Intellectual developmental disorder with ocular anomalies and distinctive facial features	OMIM2024Q4	MTSS2
+617057_AR:Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	OMIM2024Q4	CTU2
+617095_AR:Ciliary dyskinesia, primary, 35	OMIM2024Q4	ODAD4
+617220_AR:Myopathy, myofibrillar, 8	OMIM2024Q4	PYROXD1
+617371_AD:Weiss-Kruszka syndrome	OMIM2024Q4	ZNF462
+617436_AR:Galloway-Mowat syndrome 9	OMIM2024Q4	GON7
+617449_AR:Structural heart defects and renal anomalies syndrome	OMIM2024Q4	TMEM260
+617548_AR:Bronchiectasis and nasal polyposis	OMIM2024Q4	WFDC2
+617618_AR:Joubert syndrome 37	OMIM2024Q4	TOGARAM1
+617619_AD/AR:Myopathy, mitochondrial, and ataxia	OMIM2024Q4	MSTO1
+612858_AD:Orofacial cleft 12	OMIM2024Q4	OFC12
+612866_AR:?Myasthenic syndrome, congenital, 15, without tubular aggregates##AR:Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies##AR:Myopathy, epilepsy, and progressive cerebral atrophy	OMIM2024Q4	ALG14
+612894_.:{Stature QTL 20}	OMIM2024Q4	STQTL20
+612906_AD:{Parkinson disease 26, autosomal dominant, susceptibility to}	OMIM2024Q4	RAB32
+612920_AR:?Deafness, autosomal recessive 98##AR:Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis##AR:Tooth agenesis, selective, 10	OMIM2024Q4	TSPEAR
+612944_AR:Leukoencephalopathy, cystic, without megalencephaly	OMIM2024Q4	RNASET2
+613009_AR:Pontocerebellar hypoplasia type 2D	OMIM2024Q4	SEPSECS
+613040_.:{Glioma susceptibility 7}	OMIM2024Q4	CCDC26
+613059_.:{Basal cell carcinoma, susceptibility to, 3}	OMIM2024Q4	BCC3
+613121_AD:Cardiomyopathy, dilated, 1CC##AD:Cardiomyopathy, hypertrophic, 20	OMIM2024Q4	NEXN
+613230_AR:Prolidase deficiency	OMIM2024Q4	PEPD
+613276_AR:Poikiloderma with neutropenia	OMIM2024Q4	USB1
+613279_AR:Intellectual developmental disorder, autosomal recessive 56	OMIM2024Q4	ZC3H14
+613360_AR:Cone-rod dystrophy 21	OMIM2024Q4	DRAM2
+613363_AR:Short-rib thoracic dysplasia 11 with or without polydactyly	OMIM2024Q4	DYNC2I2
+613403_AD:{Pheochromocytoma, susceptibility to}	OMIM2024Q4	TMEM127
+613441_AR:Transcobalamin II deficiency	OMIM2024Q4	TCN2
+613462_.:[Fasting plasma glucose level QTL 4]	OMIM2024Q4	FGQTL4
+613469_AR:Urofacial syndrome 1	OMIM2024Q4	HPSE2
+613481_AR:?Spermatogenic failure 67	OMIM2024Q4	CCDC62
+613519_.:{Dermatitis, atopic, susceptibility to, 9}	OMIM2024Q4	ATOD9
+613529_AR:Microcephaly 9, primary, autosomal recessive##AR:Seckel syndrome 5	OMIM2024Q4	CEP152
+613549_.:{Stature QTL 24}	OMIM2024Q4	STQTL24
+613599_AR:Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	OMIM2024Q4	ABHD12
+613629_AD:?Marden-Walker syndrome##AD:Arthrogryposis, distal, type 3##AD:Arthrogryposis, distal, type 5##AR:Arthrogryposis, distal, with impaired proprioception and touch	OMIM2024Q4	PIEZO2
+613667_AR:?Impaired intellectual development, anterior maxillary protrusion, and strabismus	OMIM2024Q4	SOBP
+613715_AD/AR:Treacher Collins syndrome 2	OMIM2024Q4	POLR1D
+613734_AR:Congenital disorder of glycosylation, type IIo	OMIM2024Q4	CCDC115
+610788_AR:Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	OMIM2024Q4	SLC35B2
+610812_AR:Ciliary dyskinesia, primary, 5	OMIM2024Q4	HYDIN
+610823_AR:Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	OMIM2024Q4	SLC25A42
+610826_AR:Neuropathy, hereditary motor and sensory, type VIB##AR:Pontocerebellar hypoplasia, type 1E	OMIM2024Q4	SLC25A46
+610833_AR:Intellectual developmental disorder, autosomal recessive 73	OMIM2024Q4	NAA20
+610844_AR:Amyotrophic lateral sclerosis 5, juvenile##AR:Charcot-Marie-Tooth disease, axonal, type 2X##AR:Spastic paraplegia 11, autosomal recessive	OMIM2024Q4	SPG11
+610859_AR:Immunodeficiency 58	OMIM2024Q4	CARMIL2
+610881_AD:Intellectual developmental disorder, autosomal dominant 51	OMIM2024Q4	KMT5B
+610904_AR:Developmental and epileptic encephalopathy 115##AR:Neurodevelopmental disorder plus optic atrophy	OMIM2024Q4	SNF8
+610906_.:{Asthma-related traits, susceptibility to, 4}	OMIM2024Q4	ASRT4
+610916_AR:Intellectual developmental disorder, autosomal recessive 5	OMIM2024Q4	NSUN2
+610934_AD:Premature ovarian failure 5	OMIM2024Q4	NOBOX
+610966_AR:Growth retardation, developmental delay, facial dysmorphism##AR:{Obesity, susceptibility to, BMIQ14}	OMIM2024Q4	FTO
+610986_AR:Osteosclerotic metaphyseal dysplasia	OMIM2024Q4	LRRK1
+611053_AR:Intellectual developmental disorder, autosomal recessive 61	OMIM2024Q4	RUSC2
+611065_AR:Maple syrup urine disease, mild variant	OMIM2024Q4	PPM1K
+611095_AR:Intellectual developmental disorder, autosomal recessive 9/26	OMIM2024Q4	MRT9
+611101_AR:Charcot-Marie-Tooth disease, recessive intermediate C##AR:Neuronopathy, distal hereditary motor, autosomal recessive 4	OMIM2024Q4	PLEKHG5
+611124_AR:Ceroid lipofuscinosis, neuronal, 7##AR:Macular dystrophy with central cone involvement	OMIM2024Q4	MFSD8
+611203_AD:Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant	OMIM2024Q4	DNAJC5
+611252_AR:Spastic paraplegia 32, autosomal recessive	OMIM2024Q4	SPG32
+611258_AR:Cataract 36	OMIM2024Q4	TDRD7
+611274_.:Glaucoma 1, open angle, N	OMIM2024Q4	GLC1N
+611332_AD:Muscular dystrophy, limb-girdle, autosomal dominant 1	OMIM2024Q4	DNAJB6
+611341_AD:Polycystic kidney disease 6 with or without polycystic liver disease	OMIM2024Q4	DNAJB11
+611354_AR:Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	OMIM2024Q4	INTS11
+611384_.:{Plasmodium falciparum fever episodes QTL1}	OMIM2024Q4	PFFE1
+611386_AD:Helsmoortel-van der Aa syndrome	OMIM2024Q4	ADNP
+611415_AR:Immunodeficiency 122	OMIM2024Q4	POLD3
+611423_AR:Microcephaly 8, primary, autosomal recessive	OMIM2024Q4	CEP135
+611448_AD:?Aplasia cutis congenita, nonsyndromic	OMIM2024Q4	BMS1
+611466_AR:?Osteopetrosis, autosomal recessive 6##AD:Osteopetrosis, autosomal dominant 3	OMIM2024Q4	PLEKHM1
+611494_.:{Atrial fibrillation, familial, 5}	OMIM2024Q4	ATFB5
+611537_AR:?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	OMIM2024Q4	CTNNBL1
+611577_AD:Stolerman neurodevelopmental syndrome	OMIM2024Q4	KDM6B
+611606_AD:Deafness, autosomal dominant 50	OMIM2024Q4	MIR96
+611642_AR:Megalencephalic leukoencephalopathy with subcortical cysts 2A##AD:Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development	OMIM2024Q4	HEPACAM
+611647_AR:Developmental and epileptic encephalopathy 38	OMIM2024Q4	ARV1
+615910_AR:Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	OMIM2024Q4	NAXD
+615956_AR:Ciliary dyskinesia, primary, 30	OMIM2024Q4	ODAD3
+616012_AR:Neutropenia, severe congenital, 6, autosomal recessive	OMIM2024Q4	JAGN1
+616055_AD:Episodic ataxia, type 8	OMIM2024Q4	EA8
+616105_AR:Spinocerebellar ataxia, autosomal recessive 20	OMIM2024Q4	SNX14
+616112_AR:Nemaline myopathy 10	OMIM2024Q4	LMOD3
+616182_.:{Chronic mountain sickness, susceptibility to}	OMIM2024Q4	CMTS
+616244_AD:Parkinson disease 22, autosomal dominant	OMIM2024Q4	CHCHD2
+616253_AR:Diencephalic-mesencephalic junction dysplasia syndrome 2	OMIM2024Q4	GSX2
+616305_AR:?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	OMIM2024Q4	FRMD4A
+616327_AD:Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features	OMIM2024Q4	CHAMP1
+616386_AD:Dystonia 26, myoclonic	OMIM2024Q4	KCTD17
+616404_AD:Acrofacial dysostosis, Cincinnati type##AR:Leukodystrophy, hypomyelinating, 27	OMIM2024Q4	POLR1A
+616440_AD:Developmental and epileptic encephalopathy 114##AD:Generalized epilepsy with febrile seizures plus, type 12	OMIM2024Q4	SLC32A1
+616741_AR:Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism##AR:Pontocerebellar hypoplasia, type 17	OMIM2024Q4	PRDM13
+616768_AD/AR:Oocyte/zygote/embryo maturation arrest 2	OMIM2024Q4	TUBB8
+616821_AD:?Aneurysm, intracranial berry, 12##AR:Lymphatic malformation 13	OMIM2024Q4	THSD1
+613774_AR:Cortical dysplasia, complex, with other brain malformations 12	OMIM2024Q4	CAMSAP1
+613867_AR:Lipodystrophy, familial partial, type 9	OMIM2024Q4	PLAAT3
+613878_AR:Factor VII deficiency##.:{Myocardial infarction, decreased susceptibility to}	OMIM2024Q4	F7
+613896_AR:Erythrocytosis, familial, 8	OMIM2024Q4	BPGM
+613915_AR:?Lethal congenital contracture syndrome 6	OMIM2024Q4	ZBTB42
+613927_AR:C2 deficiency##DD:{Macular degeneration, age-related, 14, reduced risk of}	OMIM2024Q4	C2
+613940_AR:Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	OMIM2024Q4	AFG2A
+613942_AR:Spermatogenic failure 16	OMIM2024Q4	SUN5
+613976_AR:Fanconi anemia, complementation group E	OMIM2024Q4	FANCE
+614071_AR:Cardiomyopathy, dilated, 2K	OMIM2024Q4	MYZAP
+614159_AD:Myopia 21, autosomal dominant	OMIM2024Q4	ZNF644
+614168_AR:Phosphoenolpyruvate carboxykinase deficiency, cytosolic	OMIM2024Q4	PCK1
+614221_.:Biliary cirrhosis, primary, 5	OMIM2024Q4	PBC5
+614245_AR:Combined malonic and methylmalonic aciduria	OMIM2024Q4	ACSF3
+614329_AR:Intellectual developmental disorder, autosomal recessive 31	OMIM2024Q4	MRT31
+614343_AR:Intellectual developmental disorder, autosomal recessive 19	OMIM2024Q4	MRT19
+614345_AR:Intellectual developmental disorder, autosomal recessive 24	OMIM2024Q4	MRT24
+614404_AD:Tylosis with esophageal cancer	OMIM2024Q4	RHBDF2
+614452_AR:Hyperekplexia 4	OMIM2024Q4	ATAD1
+614459_AR:Joubert syndrome 16	OMIM2024Q4	TMEM138
+614478_AR:?Mitochondrial complex IV deficiency, nuclear type 10	OMIM2024Q4	COX14
+614494_AD:Retinitis pigmentosa 63	OMIM2024Q4	RP63
+614505_AR:Ehlers-Danlos syndrome, kyphoscoliotic type, 2	OMIM2024Q4	FKBP14
+614530_AR:Mitochondrial complex I deficiency, nuclear type 23	OMIM2024Q4	NDUFA12
+614584_AR:Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	OMIM2024Q4	P4HTM
+614585_AR:Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	OMIM2024Q4	FDX2
+614632_AR:UV-sensitive syndrome 3	OMIM2024Q4	UVSSA
+614636_AR:?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	OMIM2024Q4	MYO1H
+617824_AR:Ciliary dyskinesia, primary, 51	OMIM2024Q4	BRWD1
+617876_AR:Aicardi-Goutieres syndrome 9	OMIM2024Q4	RNU7-1
+617949_AR:Spermatogenic failure 24	OMIM2024Q4	CFAP69
+618038_AR:Spermatogenic failure 75	OMIM2024Q4	SHOC1
+618083_AD:Vertebral, cardiac, tracheoesophageal, renal, and limb defects	OMIM2024Q4	WBP11
+618260_AR:Trichohepatoneurodevelopmental syndrome	OMIM2024Q4	CCDC47
+618304_AR:Spermatogenic failure 35	OMIM2024Q4	QRICH2
+618639_AD:?Oculopharyngeal myopathy with leukoencephalopathy 1	OMIM2024Q4	NUTM2B-AS1
+611766_AR:Combined oxidative phosphorylation deficiency 15##AR:Mitochondrial complex I deficiency, nuclear type 27	OMIM2024Q4	MTFMT
+611894_AD:Spondyloepiphyseal dysplasia, Nishimura type	OMIM2024Q4	MIR140
+611927_AD:Amelogenesis imperfecta, type IIIA	OMIM2024Q4	FAM83H
+611966_AR:Intellectual developmental disorder, autosomal recessive 13	OMIM2024Q4	TRAPPC9
+611985_AR:?Combined oxidative phosphorylation deficiency 46	OMIM2024Q4	MRPS23
+611987_AR:?Combined oxidative phosphorylation deficiency 50	OMIM2024Q4	MRPS25
+612010_.:{Celiac disease, susceptibility to, 12}	OMIM2024Q4	CELIAC12
+612041_AR:?Spermatogenic failure 62##.:Recombination rate QTL 1	OMIM2024Q4	RNF212
+612056_AR:?Congenital disorder of glycosylation, type IIy	OMIM2024Q4	GET4
+612084_AR:?Cholestasis, progressive familial intrahepatic, 6	OMIM2024Q4	SLC51A
+612085_AR:?Bile acid malabsorption, primary, 2	OMIM2024Q4	SLC51B
+612108_.:[Fasting plasma glucose level QTL 1]	OMIM2024Q4	FGQTL1
+612221_.:{Stature QTL 10}	OMIM2024Q4	STQTL10
+612223_.:{Stature QTL 11}	OMIM2024Q4	STQTL11
+612255_.:{Inflammatory bowel disease 15}	OMIM2024Q4	IBD15
+612259_.:{Inflammatory bowel disease 16}	OMIM2024Q4	IBD16
+612309_AR:Factor V deficiency##AD:Thrombophilia 2 due to activated protein C resistance##AR:{Budd-Chiari syndrome}##AD:{Pregnancy loss, recurrent, susceptibility to, 1}##Mu:{Stroke, ischemic, susceptibility to}##AD:{Thrombophilia, susceptibility to, due to factor V Leiden}	OMIM2024Q4	F5
+612373_AR:Histiocytosis-lymphadenopathy plus syndrome	OMIM2024Q4	SLC29A3
+612410_.:{Psoriasis susceptibility 10}	OMIM2024Q4	PSORS10
+612453_AR:Congenital myopathy 10A, severe variant##AR:Congenital myopathy 10B, mild variant	OMIM2024Q4	MEGF10
+612482_AD:Sessile serrated polyposis cancer syndrome	OMIM2024Q4	RNF43
+612571_.:{Lung cancer susceptibility 3}	OMIM2024Q4	LNCR3
+612573_.:[Mean platelet volume QTL1]	OMIM2024Q4	MPVQTL1
+612586_.:{Aneurysm, intracranial berry, 9}	OMIM2024Q4	ANIB9
+612593_.:{Lung cancer susceptibility 4}	OMIM2024Q4	LNCR4
+612637_.:Febrile seizures, familial, 10	OMIM2024Q4	45698
+612638_AR:Mitochondrial complex I deficiency, nuclear type 14	OMIM2024Q4	NDUFA11
+612655_AR:Macrocephaly/megalencephaly syndrome, autosomal recessive	OMIM2024Q4	TBC1D7
+612683_AR:Spermatogenic failure 81	OMIM2024Q4	TEKT3
+612715_.:Dyschromatosis universalis hereditaria 2	OMIM2024Q4	DUH2
+612732_AD/AR:Coproporphyria##AR:Harderoporphyria	OMIM2024Q4	CPOX
+616927_AR:Brain malformation renal syndrome	OMIM2024Q4	EXOC3L2
+617036_AR:?Leukodystrophy, progressive, early childhood-onset	OMIM2024Q4	ACER3
+617083_AR:Short-rib thoracic dysplasia 15 with polydactyly	OMIM2024Q4	DYNC2LI1
+617089_AR:Anauxetic dysplasia 3	OMIM2024Q4	NEPRO
+617277_AR:Spermatogenic failure 65	OMIM2024Q4	DNHD1
+617457_AR:Short stature, oligodontia, dysmorphic facies, and motor delay	OMIM2024Q4	POLR3GL
+617531_AR:Brain small vessel disease 3	OMIM2024Q4	COLGALT1
+617570_AR:Polycystic kidney disease 5	OMIM2024Q4	DZIP1L
+617579_AR:HELIX syndrome	OMIM2024Q4	CLDN10
+617658_AR:Sulfide:quinone oxidoreductase deficiency	OMIM2024Q4	SQOR
+617853_AR:Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	OMIM2024Q4	SVBP
+614787_AD:White-Sutton syndrome	OMIM2024Q4	POGZ
+614860_AD:Dystonia 23	OMIM2024Q4	DYT23
+615049_AD:Desanto-Shinawi syndrome	OMIM2024Q4	WAC
+615103_AD:?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	OMIM2024Q4	TUBB6
+615115_AD:Bainbridge-Ropers syndrome	OMIM2024Q4	ASXL3
+615140_AR:Temtamy syndrome	OMIM2024Q4	C12orf57
+615276_AR:Ichthyosis, congenital, autosomal recessive 9	OMIM2024Q4	CERS3
+615497_AD:Optic atrophy 14	OMIM2024Q4	MIEF1
+615535_AR:Deafness, autosomal recessive 76	OMIM2024Q4	SYNE4
+615623_AR:Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	OMIM2024Q4	COA7
+615626_AR:Dyserythropoietic anemia, congenital, type Ib	OMIM2024Q4	CDIN1
+615697_AD:Epilepsy, familial temporal lobe, 6	OMIM2024Q4	ETL6
+615712_AR:Autoinflammation, panniculitis, and dermatosis syndrome##AD:{Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}	OMIM2024Q4	OTULIN
+615757_AR:Retinitis pigmentosa 69	OMIM2024Q4	KIZ
+615796_AR:Spermatogenic failure 34	OMIM2024Q4	FSIP2
+612758_AR:Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	OMIM2024Q4	TAPT1
+612759_.:Synesthesia	OMIM2024Q4	SYNSTH
+612789_AR:Deafness, autosomal recessive 71	OMIM2024Q4	DFNB71
+612839_AR:Immunodeficiency 75##.:Myelodysplastic syndrome, somatic	OMIM2024Q4	TET2
+612848_AR:Mitochondrial complex II deficiency, nuclear type 2	OMIM2024Q4	SDHAF1
+612870_AD:Chung-Jansen syndrome	OMIM2024Q4	PHIP
+612878_AR:Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	OMIM2024Q4	EXPH5
+612976_.:{Age-related hearing impairment 2}	OMIM2024Q4	ARHI2
+613006_.:{Diabetes mellitus, insulin-dependent, 24}	OMIM2024Q4	IDDM24
+613007_.:{Biliary cirrhosis, primary, 2}	OMIM2024Q4	PBC2
+613016_.:{Neuroblastoma, susceptibility to, 5}	OMIM2024Q4	NBLST5
+613024_.:{Follicular lymphoma, susceptibility to, 1}	OMIM2024Q4	FL1
+613025_.:{Schizophrenia, susceptibility to, 13}	OMIM2024Q4	SCZD13
+613062_.:{Basal cell carcinoma, susceptibility to, 5}	OMIM2024Q4	BCC5
+613063_.:{Basal cell carcinoma, susceptibility to, 6}	OMIM2024Q4	BCC6
+613072_AR:Deafness, autosomal recessive 77	OMIM2024Q4	LOXHD1
+613088_.:{Pelvic organ prolapse, susceptibility to, 2}	OMIM2024Q4	PVOP2
+613096_AD:Spastic paraplegia 36, autosomal dominant	OMIM2024Q4	SPG36
+613138_AD:Exudative vitreoretinopathy 5	OMIM2024Q4	TSPAN12
+613164_.:{Parkinson disease 16}	OMIM2024Q4	PARK16
+613219_.:[Birth weight QTL 1]##.:[Fasting plasma glucose level QTL 2]	OMIM2024Q4	FGQTL2
+613274_AR:Xanthinuria, type II	OMIM2024Q4	MOCOS
+613290_.:{?Hearing loss, cisplatin-induced, susceptibility to}	OMIM2024Q4	CIHL
+613295_AD:ACCES syndrome	OMIM2024Q4	UBA2
+613297_AD:Epilepsy, familial adult myoclonic, 3	OMIM2024Q4	MARCHF6
+613311_AR:?Combined oxidative phosphorylation deficiency 19	OMIM2024Q4	LYRM4
+613354_AR:Deafness, autosomal recessive 79	OMIM2024Q4	TPRN
+613364_AD:?Spastic paraplegia 41, autosomal dominant	OMIM2024Q4	SPG41
+613381_AR:Homocystinuria, B6-responsive and nonresponsive types##AR:Thrombosis, hyperhomocysteinemic	OMIM2024Q4	CBS
+613386_AR:Keratosis linearis with ichthyosis congenita and sclerosing keratoderma##AD:Proteasome-associated autoinflammatory syndrome 2	OMIM2024Q4	POMP
+613401_AR:Arthrogryposis, renal dysfunction, and cholestasis 2	OMIM2024Q4	VIPAS39
+613407_.:{Leprosy, susceptibility to, 6}	OMIM2024Q4	LPRS6
+613459_.:[Birth weight QTL 2]	OMIM2024Q4	BWQTL2
+613460_.:[Birth weight QTL 3]##.:[Fasting plasma glucose level QTL 6]	OMIM2024Q4	FGQTL6
+613484_AD:Radio-Tartaglia syndrome	OMIM2024Q4	SPEN
+613516_AR:Spinocerebellar ataxia, autosomal recessive 15	OMIM2024Q4	RUBCN
+613518_.:{Dermatitis, atopic, susceptibility to, 8}	OMIM2024Q4	ATOD8
+613576_AR:Ectodermal dysplasia-syndactyly syndrome 2	OMIM2024Q4	EDSS2
+613663_AR:?Dystonia 35, childhood-onset##AR:Neurodevelopmental disorder with dystonia and seizures	OMIM2024Q4	SHQ1
+613785_AD:Ehlers-Danlos syndrome, periodontal type, 1	OMIM2024Q4	C1R
+618981_AR:Ritscher-Schinzel syndrome 3	OMIM2024Q4	VPS35L
+619014_AR:Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	OMIM2024Q4	TTC5
+619098_AR:Spermatogenic failure 48	OMIM2024Q4	M1AP
+619378_AD:{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}	OMIM2024Q4	SNORA31
+619655_AR:?Spermatogenic failure 63	OMIM2024Q4	RPL10L
+618073_AD:Epilepsy, familial adult myoclonic, 1	OMIM2024Q4	SAMD12
+618334_AR:Chronic granulomatous disease 5, autosomal recessive	OMIM2024Q4	CYBC1
+618439_AR:?Leber congenital amaurosis 19	OMIM2024Q4	USP45
+618661_AR:?Spermatogenic failure 41	OMIM2024Q4	CFAP70
+618685_AD:Leukodystrophy, hypomyelinating, 19, transient infantile	OMIM2024Q4	TMEM63A
+615831_AR:Mitochondrial complex III deficiency, nuclear type 8	OMIM2024Q4	LYRM7
+615844_AR:Triokinase and FMN cyclase deficiency syndrome	OMIM2024Q4	TKFC
+616062_AR:Microcephaly 16, primary, autosomal recessive	OMIM2024Q4	ANKLE2
+616082_AR:Intellectual developmental disorder, autosomal recessive 66	OMIM2024Q4	FERRY3
+616381_AD:?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5	OMIM2024Q4	ZCCHC8
+616454_AD:?Exudative vitreoretinopathy 6##AR:Retinitis pigmentosa 72	OMIM2024Q4	ZNF408
+616554_AR:?Spermatogenic failure 55	OMIM2024Q4	SPAG17
+616663_AR:Leukoencephalopathy, brain calcifications, and cysts	OMIM2024Q4	SNORD118
+616690_AR:Intellectual developmental disorder, autosomal recessive 77##AR:Joubert syndrome 25	OMIM2024Q4	CEP104
+613828_.:Generalized epilepsy with febrile seizures plus, type 8	OMIM2024Q4	GEFSP8
+613842_AR:Joint laxity, short stature, and myopia	OMIM2024Q4	GZF1
+613858_AR:Microphthalmia, isolated 6	OMIM2024Q4	PRSS56
+613863_AD:Generalized epilepsy with febrile seizures plus, type 7	OMIM2024Q4	GEFSP7
+613871_AR:Tyrosinemia, type I	OMIM2024Q4	FAH
+613890_AR:Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	OMIM2024Q4	HSD3B2
+613897_AR:Fanconi anemia, complementation group F	OMIM2024Q4	FANCF
+614015_AD:Neuroocular syndrome 2, paroxysmal type	OMIM2024Q4	DAGLA
+614123_AR:Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	OMIM2024Q4	TMCO1
+614138_AR:Muscular dystrophy, limb-girdle, autosomal recessive 18	OMIM2024Q4	TRAPPC11
+614139_AR:Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	OMIM2024Q4	TRAPPC12
+614200_AD:Bleeding disorder, platelet-type, 9	OMIM2024Q4	BDPLT9
+614217_AR:Intellectual developmental disorder, autosomal recessive 81	OMIM2024Q4	ASCC3
+614259_AR:Spermatogenic failure 95	OMIM2024Q4	CFAP57
+614260_AD:Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	OMIM2024Q4	C9orf72
+614297_AR:?Spastic paraplegia 43, autosomal recessive##AD/AR:Neurodegeneration with brain iron accumulation 4	OMIM2024Q4	C19orf12
+614347_AR:Intellectual developmental disorder, autosomal recessive 28	OMIM2024Q4	MRT28
+614366_AD:Charcot-Marie-Tooth disease, demyelinating, type 1I##AR:Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	OMIM2024Q4	POLR3B
+614454_AR:Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities	OMIM2024Q4	UBE3C
+614518_AR:?Cardiomyopathy, dilated, 2B	OMIM2024Q4	GATAD1
+614537_AR:Albinism, oculocutaneous, type VII	OMIM2024Q4	LRMDA
+614566_AR:Ciliary dyskinesia, primary, 2	OMIM2024Q4	DNAAF3
+614620_AR:Retinitis pigmentosa 80##AR:Short-rib thoracic dysplasia 9 with or without polydactyly	OMIM2024Q4	IFT140
+614645_.:Mean platelet volume QTL5	OMIM2024Q4	MPVQTL5
+614726_AR:Congenital disorder of glycosylation, type IIk	OMIM2024Q4	TMEM165
+614771_AR:?Mitochondrial complex IV deficiency, nuclear type 19	OMIM2024Q4	PET117
+614780_AR:Osteopetrosis, autosomal recessive 8	OMIM2024Q4	SNX10
+614785_AR:Encephalopathy due to defective mitochondrial and peroxisomal fission 2	OMIM2024Q4	MFF
+614836_.:{Human herpesvirus 8, susceptibility to}	OMIM2024Q4	HHV8S
+620108_AD:Episodic kinesigenic dyskinesia 3	OMIM2024Q4	TMEM151A
+620209_AR:Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	OMIM2024Q4	HECTD4
+620823_AD:ReNU syndrome	OMIM2024Q4	RNU4-2
+618988_AR:Deafness, autosomal recessive 117	OMIM2024Q4	CLRN2
+619251_AR:Spermatogenic failure 53	OMIM2024Q4	ACTL9
+619257_AD:Hypotrichosis 4	OMIM2024Q4	HRURF
+619490_AD:Developmental delay with variable neurologic and brain abnormalities	OMIM2024Q4	LMBRD2
+619722_AR:Craniotubular dysplasia, Ikegawa type	OMIM2024Q4	TMEM53
+617094_AR:Short-rib thoracic dysplasia 16 with or without polydactyly	OMIM2024Q4	IFT52
+617110_AR:Cone-rod dystrophy and hearing loss	OMIM2024Q4	CEP78
+617112_AR:?Joubert syndrome 38##AR:?Orofaciodigital syndrome XV##AR:Short-rib thoracic dysplasia 21 without polydactyly	OMIM2024Q4	KIAA0753
+617362_AD:46XY sex reversal 11##AR:Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	OMIM2024Q4	DHX37
+617416_AR:Cardiomyopathy, dilated, 2D	OMIM2024Q4	RPL3L
+617559_AR:Spermatogenic failure 20	OMIM2024Q4	CFAP44
+617673_AR:Premature ovarian failure 25##AR:Spermatogenic failure 96	OMIM2024Q4	SPATA22
+614990_AR:Usher syndrome, type IK	OMIM2024Q4	USH1K
+615047_AD:Intellectual developmental disorder with autistic features and language delay, with or without seizures	OMIM2024Q4	TANC2
+615215_AR:Spermatogenic failure 79	OMIM2024Q4	KCNU1
+615291_AR:Al-Gazali syndrome##AR:Ehlers-Danlos syndrome, spondylodysplastic type, 2##AR:Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	OMIM2024Q4	B3GALT6
+615317_AR:Multiple mitochondrial dysfunctions syndrome 4	OMIM2024Q4	ISCA2
+615340_AR:Nemaline myopathy 8, autosomal recessive	OMIM2024Q4	KLHL40
+615384_AR:Ovarian dysgenesis 9	OMIM2024Q4	SPIDR
+615404_AD:{Specific language impairment 5}	OMIM2024Q4	TM4SF20
+615410_AD:{?Obesity, susceptibility to, BMIQ18}	OMIM2024Q4	MRAP2
+615464_AR:Orofaciodigital syndrome V	OMIM2024Q4	DDX59
+615532_AD:?Periventricular nodular heterotopia 6	OMIM2024Q4	ERMARD
+615533_AR:Mitochondrial complex I deficiency, nuclear type 29	OMIM2024Q4	TMEM126B
+615564_AR:Combined oxidative phosphorylation deficiency 18	OMIM2024Q4	SFXN4
+615649_AD:Deafness, autosomal dominant 54	OMIM2024Q4	DFNA54
+615698_AD:?Spinocerebellar ataxia 46	OMIM2024Q4	PLD3
+615738_AR:Pontocerebellar hypoplasia, type 13	OMIM2024Q4	VPS51
+615759_AD:Spastic paraplegia, intellectual disability, nystagmus, and obesity##AR:Ventriculomegaly and arthrogryposis	OMIM2024Q4	KIDINS220
+615847_AR:Nephronophthisis 18	OMIM2024Q4	CEP83
+615870_AR:Bardet-Biedl syndrome 19	OMIM2024Q4	IFT27
+100678_IC:?ACAT2 deficiency	OMIM2024Q4	ACAT2
+102300_AD:{Restless legs syndrome 1}	OMIM2024Q4	RLS1
+103020_AR:Reticular dysgenesis	OMIM2024Q4	AK2
+103730_Mu:{Alcohol dependence, protection against}##AD/Mu:{Parkinson disease, susceptibility to}	OMIM2024Q4	ADH1C
+106150_AR:Renal tubular dysgenesis	OMIM2024Q4	AGT
+619953_AR:Spastic paraplegia 87, autosomal recessive	OMIM2024Q4	TMEM63C
+620377_AR:Spermatogenic failure 90	OMIM2024Q4	ARMC12
+620493_AR:Macular dystrophy with or without cone dysfunction	OMIM2024Q4	SAMD7
+617782_AD:Deafness, autosomal dominant 80##AD:Renal hypodysplasia/aplasia 3	OMIM2024Q4	GREB1L
+617840_AR:Combined oxidative phosphorylation deficiency 35	OMIM2024Q4	TRIT1
+617868_AD:Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	OMIM2024Q4	NAF1
+617922_.:[Blood group, MNSs system]##.:{Malaria, resistance to}	OMIM2024Q4	GYPA
+617946_AR:?Arthrogryposis multiplex congenita 2, neurogenic type	OMIM2024Q4	ERGIC1
+618025_AD:Neuronal intranuclear inclusion disease##AD:Oculopharyngodistal myopathy 3##AD:Tremor, hereditary essential, 6	OMIM2024Q4	NOTCH2NLC
+618085_AR:Spermatogenic failure 31	OMIM2024Q4	PMFBP1
+618299_AD:Amyotrophic lateral sclerosis 28##AD:Oculopharyngodistal myopathy 1	OMIM2024Q4	LRP12
+618315_AD:?Diamond-Blackfan anemia 19	OMIM2024Q4	RPL35
+618350_AR:?Microcephaly 25, primary, autosomal recessive	OMIM2024Q4	TRAPPC14
+618385_AR:Cardiomyopathy, dilated, 2I	OMIM2024Q4	CAP2
+618421_AR:Oocyte/zygote/embryo maturation arrest 10	OMIM2024Q4	REC114
+618726_AR:Ciliary dyskinesia, primary, 44	OMIM2024Q4	NEK10
+615894_AR:SIMHA syndrome	OMIM2024Q4	ZNF407
+616003_AR:Mitochondrial complex IV deficiency, nuclear type 17	OMIM2024Q4	COA8
+616013_AR:Microcephaly, short stature, and impaired glucose metabolism 1	OMIM2024Q4	TRMT10A
+616027_AD:Focal segmental glomerulosclerosis 8	OMIM2024Q4	ANLN
+616086_AR:Ruijs-Aalfs syndrome	OMIM2024Q4	SPRTN
+616177_AR:Spondyloepimetaphyseal dysplasia, Shohat type	OMIM2024Q4	DDRGK1
+616261_AR:Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	OMIM2024Q4	PUS7
+616352_AR:Neurodevelopmental disorder with progressive movement abnormalities	OMIM2024Q4	ACBD6
+616365_AR:Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	OMIM2024Q4	SCYL2
+616465_AR:Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	OMIM2024Q4	VPS50
+616615_AR:Skeletal dysplasia, mild, with joint laxity and advanced bone age	OMIM2024Q4	CSGALNACT1
+616618_AR:Retinal dystrophy with leukodystrophy	OMIM2024Q4	ACBD5
+616639_AR:?Epilepsy, progressive myoclonic, 10	OMIM2024Q4	PRDM8
+616758_AD:?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	OMIM2024Q4	KDF1
+616786_AR:Nephronophthisis 20	OMIM2024Q4	MAPKBP1
+100650_AD:Alcohol sensitivity, acute##.:{Esophageal cancer, alcohol-related, susceptibility to}##AD:{Hangover, susceptibility to}##.:{Sublingual nitroglycerin, susceptibility to poor response to}	OMIM2024Q4	ALDH2
+103220_AD:Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD##AR:Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR##AD:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	OMIM2024Q4	SLC25A4
+103600_AD/AR:?[Dysalbuminemic hypertriiodothyroninemia]##AR:Analbuminemia##AD/AR:[Dysalbuminemic hyperthyroxinemia]	OMIM2024Q4	ALB
+104210_AD:?Lipodystrophy, familial partial, type 8	OMIM2024Q4	ADRA2A
+104620_AR:Aminoacylase 1 deficiency	OMIM2024Q4	ACY1
+619192_AR:Epilepsy, progressive myoclonic, 12	OMIM2024Q4	SLC7A6OS
+619564_AR:Ciliary dyskinesia, primary, 53	OMIM2024Q4	CLXN
+619578_AR:Deafness, autosomal recessive 119##AR:Neurodevelopmental disorder with hearing loss and spasticity	OMIM2024Q4	AFG2B
+619635_AR:Cholestasis, progressive familial intrahepatic, 9	OMIM2024Q4	ZFYVE19
+619703_AR:Heterotaxy, visceral, 12, autosomal	OMIM2024Q4	CIROP
+619776_AR:?Spermatogenic failure 68	OMIM2024Q4	C2CD6
+617064_AR:?Developmental and epileptic encephalopathy 40	OMIM2024Q4	GUF1
+617131_AR:?Spermatogenic failure 59	OMIM2024Q4	TERB2
+617209_AR:Combined oxidative phosphorylation deficiency 40	OMIM2024Q4	QRSL1
+617210_AR:Combined oxidative phosphorylation deficiency 42	OMIM2024Q4	GATC
+617245_AD:Neurodevelopmental disorder with hypotonia, seizures, and absent language	OMIM2024Q4	HECW2
+617266_AR:Polydactyly, postaxial, type A10	OMIM2024Q4	KIAA0825
+617273_AR:?Polydactyly, postaxial, type A9	OMIM2024Q4	CIBAR1
+617307_AR:?Premature ovarian failure 18##AR:Spermatogenic failure 52	OMIM2024Q4	C14orf39
+617342_AR:Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities	OMIM2024Q4	PTRHD1
+617431_AR:Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	OMIM2024Q4	USP53
+617485_AD:?Microcephaly 18, primary, autosomal dominant	OMIM2024Q4	WDFY3
+617659_AR:Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	OMIM2024Q4	LIPT2
+617670_AR:Premature ovarian failure 23##AR:Spermatogenic failure 22	OMIM2024Q4	MEIOB
+617828_AD:?Marsili syndrome	OMIM2024Q4	ZFHX2
+619912_AR:?Carey-Fineman-Ziter syndrome 2	OMIM2024Q4	MYMX
+620204_AR:?Spinocerebellar ataxia, autosomal recessive 33##AR:CDAGS syndrome	OMIM2024Q4	RNU12
+620279_AR:Ciliary dyskinesia, primary, 52	OMIM2024Q4	DAW1
+617878_AD:Keratoconus 9	OMIM2024Q4	TUBA3D
+617910_AR:?Aicardi-Goutieres syndrome 8	OMIM2024Q4	LSM11
+618051_AD:{Inflammatory bowel disease 29}	OMIM2024Q4	INAVA
+618455_AR:?Abnormal hair, joint laxity, and developmental delay	OMIM2024Q4	HEPHL1
+618689_AR:Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	OMIM2024Q4	NTNG2
+620970_AR:Pancreatic agenesis 3	OMIM2024Q4	ZNF808
+618978_AD:Leukodystrophy, hypomyelinating, 25	OMIM2024Q4	TMEM163
+618979_.:[High density lipoprotein cholesterol level QTL7]	OMIM2024Q4	HDLCQ7
+619219_AR:Combined oxidative phosphorylation deficiency 53	OMIM2024Q4	C2orf69
+619332_AR:Dysostosis multiplex, Ain-Naz type	OMIM2024Q4	LYSET
+619387_AR:?Spermatogenic failure 54	OMIM2024Q4	CATIP
+619485_AR:Short stature, Dauber-Argente type	OMIM2024Q4	PAPPA2
+619979_AR:?Glycosylphosphatidylinositol biosynthesis defect 25	OMIM2024Q4	C18orf32
+620142_AR:?Mosaic variegated aneuploidy syndrome 4	OMIM2024Q4	CENATAC
+620378_AD:Charcot-Marie-Tooth disease, dominant intermediate A	OMIM2024Q4	CMTD1A
+100710_AR:?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency##AD:Myasthenic syndrome, congenital, 2A, slow-channel	OMIM2024Q4	CHRNB1
+102480_AR:?Spermatogenic failure 87	OMIM2024Q4	ACR
+102582_AD:Autoimmune disease, multisystem, infantile-onset, 1##AD:Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections	OMIM2024Q4	STAT3
+102610_AD:?Myopathy, scapulohumeroperoneal##AD:Congenital myopathy 2A, typical, autosomal dominant##AR:Congenital myopathy 2B, severe infantile, autosomal recessive##AD:Congenital myopathy 2C, severe infantile, autosomal dominant	OMIM2024Q4	ACTA1
+102771_AR:?Spastic paraplegia 63, autosomal recessive##AR:Pontocerebellar hypoplasia, type 9	OMIM2024Q4	AMPD2
+103720_Mu:{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}##Mu:{Alcohol dependence, protection against}	OMIM2024Q4	ADH1B
+105580_AD:?Anal canal carcinoma	OMIM2024Q4	ANC
+105800_AD:Aneurysm, intracranial berry, 1	OMIM2024Q4	ANIB1
+106165_AR:Renal tubular dysgenesis##Mu:{Hypertension, essential}	OMIM2024Q4	AGTR1
+106180_AR:Renal tubular dysgenesis##.:[Angiotensin I-converting enzyme, benign serum increase]##.:{Microvascular complications of diabetes 3}##.:{Myocardial infarction, susceptibility to}##.:{SARS, progression of}##.:{Stroke, hemorrhagic}	OMIM2024Q4	ACE
+106410_AD:Cardiac arrhythmia, ankyrin-B-related##AD:Long QT syndrome 4	OMIM2024Q4	ANK2
+107670_.:Apolipoprotein A-II deficiency##AD/AR:{Hypercholesterolemia, familial, modifier of}	OMIM2024Q4	APOA2
+107741_AD:Alzheimer disease 2##.:Hyperlipoproteinemia, type III##.:Lipoprotein glomerulopathy##AR:Sea-blue histiocyte disease##AD:{?Alzheimer disease, protection against, due to APOE3-Christchurch}##AD:{?Macular degeneration, age-related}##.:{Coronary artery disease, severe, susceptibility to}	OMIM2024Q4	APOE
+108725_AD:{Atherosclerosis, susceptibility to}	OMIM2024Q4	ATHS
+108800_AD:Atrial septal defect 1	OMIM2024Q4	ASD1
+109691_AD/AR/Mu:{Obesity, susceptibility to}	OMIM2024Q4	ADRB3
+109700_.:Amyloidosis, hereditary systemic 6##AR:Immunodeficiency 43	OMIM2024Q4	B2M
+110300_.:[Blood group, ABO system]	OMIM2024Q4	ABO
+112262_AD:Microphthalmia, syndromic 6##AD:Orofacial cleft 11	OMIM2024Q4	BMP4
+113811_AR:Epidermolysis bullosa, junctional 4, intermediate##AD:Epithelial recurrent erosion dystrophy	OMIM2024Q4	COL17A1
+114205_AD:Brugada syndrome 3##AD:Long QT syndrome 8##AD:Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures##AD:Timothy syndrome	OMIM2024Q4	CACNA1C
+114206_AD:Primary aldosteronism, seizures, and neurologic abnormalities##AR:Sinoatrial node dysfunction and deafness	OMIM2024Q4	CACNA1D
+114250_AD:Myopathy, vacuolar, with CASQ1 aggregates	OMIM2024Q4	CASQ1
+114855_AR:BDV syndrome	OMIM2024Q4	CPE
+115501_AR:Albinism, oculocutaneous, type III##.:[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]	OMIM2024Q4	TYRP1
+115665_AD:Cataract 8, multiple types	OMIM2024Q4	CCV
+116805_AD:Macular dystrophy, patterned, 2	OMIM2024Q4	CTNNA1
+116955_AD:Myotonic dystrophy 2	OMIM2024Q4	CNBP
+118485_.:Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	OMIM2024Q4	CYP11A1
+119100_AD:Split-hand/foot malformation with long bone deficiency 1	OMIM2024Q4	SHFL1
+120240_AR:?Myosclerosis, congenital##AD/AR:Bethlem myopathy 1B##AD/AR:Ullrich congenital muscular dystrophy 1B	OMIM2024Q4	COL6A2
+120250_AD/AR:Bethlem myopathy 1C##AR:Dystonia 27##AD/AR:Ullrich congenital muscular dystrophy 1C	OMIM2024Q4	COL6A3
+120290_AD:Deafness, autosomal dominant 13##AR:Deafness, autosomal recessive 53##AD/AR:Fibrochondrogenesis 2##AD:Otospondylomegaepiphyseal dysplasia, autosomal dominant##AR:Otospondylomegaepiphyseal dysplasia, autosomal recessive	OMIM2024Q4	COL11A2
+120470_.:Colorectal cancer, somatic##.:Esophageal carcinoma, somatic##AR:Gaze palsy, familial horizontal, with progressive scoliosis, 2##AD:Mirror movements 1 and/or agenesis of the corpus callosum	OMIM2024Q4	DCC
+120550_AR:C1q deficiency 1	OMIM2024Q4	C1QA
+120920_AD/AR:{Hemolytic uremic syndrome, atypical, susceptibility to, 2}	OMIM2024Q4	CD46
+121360_AD:Cleidocranial dysplasia 2	OMIM2024Q4	CBFB
+123270_.:[Creatine kinase, brain type, ectopic expression of]	OMIM2024Q4	CKBE
+123630_AD/AR:Cataract 22	OMIM2024Q4	CRYBB3
+123805_AD:Hypertension and brachydactyly syndrome	OMIM2024Q4	PDE3A
+124020_AR:Clopidogrel, impaired responsiveness to##AR:Mephenytoin poor metabolizer##AR:Omeprazole poor metabolizer##AR:Proguanil poor metabolizer	OMIM2024Q4	CYP2C19
+125255_AD:Corneal dystrophy, congenital stromal	OMIM2024Q4	DCN
+126455_AR:Parkinsonism-dystonia, infantile, 1##.:{Nicotine dependence, protection against}	OMIM2024Q4	SLC6A3
+126900_AD:Dupuytren contracture 1	OMIM2024Q4	DUPC1
+130160_AD:Cutis laxa, autosomal dominant##AD:Supravalvar aortic stenosis	OMIM2024Q4	ELN
+131222_AR:Mitochondrial DNA depletion syndrome 1 (MNGIE type)	OMIM2024Q4	TYMP
+131242_AD/AR:Waardenburg syndrome, type 4B##AD:{Hirschsprung disease, susceptibility to, 4}	OMIM2024Q4	EDN3
+131370_AR:Glycogen storage disease XIII	OMIM2024Q4	ENO3
+131400_AD:Eosinophilia, familial	OMIM2024Q4	EOS
+133520_AR:Fanconi anemia, complementation group Q##AR:XFE progeroid syndrome##AR:Xeroderma pigmentosum, group F##AR:Xeroderma pigmentosum, type F/Cockayne syndrome	OMIM2024Q4	ERCC4
+134637_AD:Autoimmune lymphoproliferative syndrome, type IA##.:Squamous cell carcinoma, burn scar-related, somatic##AD:{Autoimmune lymphoproliferative syndrome}	OMIM2024Q4	FAS
+134797_AD:Acromicric dysplasia##AD:Ectopia lentis, familial##AD:Geleophysic dysplasia 2##AD:MASS syndrome##AD:Marfan lipodystrophy syndrome##AD:Marfan syndrome##AD:Stiff skin syndrome##AD:Weill-Marchesani syndrome 2, dominant	OMIM2024Q4	FBN1
+135600_AD:Glomerulopathy with fibronectin deposits 2##AD:Spondylometaphyseal dysplasia, corner fracture type	OMIM2024Q4	FN1
+136351_.:Leukemia, acute lymphoblastic, somatic##.:Leukemia, acute myeloid, reduced survival in, somatic##.:Leukemia, acute myeloid, somatic	OMIM2024Q4	FLT3
+136850_AR:Fumarase deficiency##AD:Leiomyomatosis and renal cell cancer	OMIM2024Q4	FH
+137207_AR:Cleft palate, proliferative retinopathy, and developmental delay	OMIM2024Q4	LRRC32
+138090_AR:Cortisone reductase deficiency 1	OMIM2024Q4	H6PD
+138244_AR:Intellectual developmental disorder, autosomal recessive 6##AD:Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	OMIM2024Q4	GRIK2
+138247_AD:Neurodevelopmental disorder with language impairment and behavioral abnormalities	OMIM2024Q4	GRIA2
+138253_AD:Epilepsy, focal, with speech disorder and with or without impaired intellectual development	OMIM2024Q4	GRIN2A
+138322_AR:Spondylometaphyseal dysplasia, Sedaghatian type	OMIM2024Q4	GPX4
+138480_AR:?Exercise intolerance, riboflavin-responsive	OMIM2024Q4	SLC25A32
+138492_AR:Hyperekplexia 2	OMIM2024Q4	GLRB
+138945_AD/AR:Aphasia, primary progressive##AR:Ceroid lipofuscinosis, neuronal, 11##AD/AR:Frontotemporal dementia 2	OMIM2024Q4	GRN
+139311_AD:Developmental and epileptic encephalopathy 17##AD:Neurodevelopmental disorder with involuntary movements	OMIM2024Q4	GNAO1
+139350_AD:Epidermolytic hyperkeratosis 1##AD:Ichthyosis histrix, Curth-Macklin type##AD:Ichthyosis, annular epidermolytic 2##.:Keratosis palmoplantaris striata III##AD:Palmoplantar keratoderma, epidermolytic, 2##AD:Palmoplantar keratoderma, nonepidermolytic	OMIM2024Q4	KRT1
+139370_AD:Auriculocondylar syndrome 1	OMIM2024Q4	GNAI3
+141250_AR:Heme oxygenase-1 deficiency##.:{Pulmonary disease, chronic obstructive, susceptibility to}	OMIM2024Q4	HMOX1
+142340_Mu:Diaphragmatic hernia 1	OMIM2024Q4	DIH1
+142600_AR:Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient##AD:Neurodevelopmental disorder with visual defects and brain anomalies##AR:Neuropathy, hereditary motor and sensory, Russe type##AD:Retinitis pigmentosa 79	OMIM2024Q4	HK1
+142958_AD:Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	OMIM2024Q4	HOXA11
+146450_AD/Mu:Hypospadias 3, autosomal	OMIM2024Q4	HYSP3
+146710_AR:Immunodeficiency 63 with lymphoproliferation and autoimmunity	OMIM2024Q4	IL2RB
+146880_AR/Mu:{Celiac disease, susceptibility to}	OMIM2024Q4	HLA-DQA1
+146920_AR:Aicardi-Goutieres syndrome 6##AD:Dyschromatosis symmetrica hereditaria	OMIM2024Q4	ADAR
+147020_AR:Agammaglobulinemia 1	OMIM2024Q4	IGHM
+147558_AR:Amelogenesis imperfecta, type IH	OMIM2024Q4	ITGB6
+147670_.:Diabetes mellitus, insulin-resistant, with acanthosis nigricans##AR:Donohue syndrome##AD:Hyperinsulinemic hypoglycemia, familial, 5##AR:Rabson-Mendenhall syndrome	OMIM2024Q4	INSR
+148042_AD:Pachyonychia congenita 4	OMIM2024Q4	KRT6B
+148043_AD:Meesmann corneal dystrophy 2	OMIM2024Q4	KRT3
+150310_AD:Amelogenesis imperfecta, type IA##AR:Epidermolysis bullosa, junctional 1A, intermediate##AR:Epidermolysis bullosa, junctional 1B, severe	OMIM2024Q4	LAMB3
+150390_AR:Cutis laxa, autosomal recessive, type IIE	OMIM2024Q4	LTBP1
+152430_.:[Longevity 1]	OMIM2024Q4	LGV1
+153455_AD:Aortic aneurysm, familial thoracic 10	OMIM2024Q4	LOX
+155541_AD/AR:Obesity (BMIQ20)##AD/AR:{Obesity, resistance to (BMIQ20)}	OMIM2024Q4	MC4R
+156100_AD:CEBALID syndrome##AD:Meningioma	OMIM2024Q4	MN1
+158343_AD:?Deafness, autosomal dominant 77	OMIM2024Q4	ABCC1
+158375_AD:{Asthma, protection against}	OMIM2024Q4	MUC7
+160720_AD:Arthrogryposis, distal, type 2A (Freeman-Sheldon)##AD:Arthrogryposis, distal, type 2B3 (Sheldon-Hall)##AD:Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A##AR:Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	OMIM2024Q4	MYH3
+160760_AD:Cardiomyopathy, dilated, 1S##AD/DD:Cardiomyopathy, hypertrophic, 1##AD:Congenital myopathy 7A, myosin storage, autosomal dominant##AR:Congenital myopathy 7B, myosin storage, autosomal recessive##AD:Laing distal myopathy##AD:Left ventricular noncompaction 5	OMIM2024Q4	MYH7
+160790_AD/AR:Cardiomyopathy, hypertrophic, 8	OMIM2024Q4	MYL3
+161950_?AD:{IgA nephropathy, susceptibility to, 1}	OMIM2024Q4	IGAN1
+162230_AD:Charcot-Marie-Tooth disease, axonal, type 2CC##AD/AR:{?Amyotrophic lateral sclerosis, susceptibility to}	OMIM2024Q4	NEFH
+162662_.:Glaucoma 1, open angle, 1O	OMIM2024Q4	NTF4
+164008_AD:Ectodermal dysplasia and immunodeficiency 2	OMIM2024Q4	NFKBIA
+164770_AR:Brain abnormalities, neurodegeneration, and dysosteosclerosis##AD:Leukoencephalopathy, diffuse hereditary, with spheroids 1	OMIM2024Q4	CSF1R
+165230_AD:Culler-Jones syndrome##AD:Holoprosencephaly 9	OMIM2024Q4	GLI2
+165360_AD/SMu:?Juvenile myelomonocytic leukemia##AD:Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	OMIM2024Q4	CBL
+167416_AD:Tooth agenesis, selective, 3	OMIM2024Q4	PAX9
+170260_AR:MHC class I deficiency 1	OMIM2024Q4	TAP1
+171050_AR:Encephalopathy, acute transient##.:{Colchicine resistance}##.:{Inflammatory bowel disease 13}	OMIM2024Q4	ABCB1
+173490_.:Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial##IC/SMu:Hypereosinophilic syndrome, idiopathic, resistant to imatinib	OMIM2024Q4	PDGFRA
+173510_AR:Platelet glycoprotein IV deficiency##.:{Coronary heart disease, susceptibility to, 7}##.:{Malaria, cerebral, reduced risk of}##.:{Malaria, cerebral, susceptibility to}	OMIM2024Q4	CD36
+174762_AR:FILS syndrome##AR:IMAGE-I syndrome##AD:{Colorectal cancer, susceptibility to, 12}	OMIM2024Q4	POLE
+174763_AR:Mitochondrial DNA depletion syndrome 4A (Alpers type)##AR:Mitochondrial DNA depletion syndrome 4B (MNGIE type)##AR:Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)##AD:Progressive external ophthalmoplegia, autosomal dominant 1##AR:Progressive external ophthalmoplegia, autosomal recessive 1	OMIM2024Q4	POLG
+176266_AR:Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	OMIM2024Q4	KCNA4
+176610_.:Amyotrophic lateral sclerosis 18	OMIM2024Q4	PFN1
+176790_AD:Cole-Carpenter syndrome 1	OMIM2024Q4	P4HB
+176948_AD:Noonan syndrome 13	OMIM2024Q4	MAPK1
+179035_AR:Cutis laxa, autosomal recessive, type IIB##AR:Cutis laxa, autosomal recessive, type IIIB	OMIM2024Q4	PYCR1
+179502_AR:Alfadhel syndrome	OMIM2024Q4	RAP1GDS1
+179530_AD:Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	OMIM2024Q4	RAP1B
+180250_AD:Microphthalmia/coloboma 10##AR:Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	OMIM2024Q4	RBP4
+180430_AR:Ribose 5-phosphate isomerase deficiency	OMIM2024Q4	RPIA
+180660_AD:Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	OMIM2024Q4	POLR2A
+180902_AD:Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome##AD:Ventricular tachycardia, catecholaminergic polymorphic, 1	OMIM2024Q4	RYR2
+182282_AD:Cerebrocostomandibular syndrome	OMIM2024Q4	SNRPB
+182283_.:{HIV infection, resistance to}	OMIM2024Q4	CCL3
+182330_Mu:[Blood pressure regulation QTL]	OMIM2024Q4	ATP1B1
+182340_AD:Alternating hemiplegia of childhood 1##AD:Developmental and epileptic encephalopathy 98##AR:Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies##AD:Migraine, familial basilar##AD:Migraine, familial hemiplegic, 2	OMIM2024Q4	ATP1A2
+184756_AD:Ichthyosis, follicular, with atrichia and photophobia syndrome 2##AD:Mucoepithelial dysplasia, hereditary	OMIM2024Q4	SREBF1
+185470_AD/IC:Gastrointestinal stromal tumor##AR:Mitochondrial complex II deficiency, nuclear type 4##.:Paraganglioma and gastric stromal sarcoma##AD:Pheochromocytoma/paraganglioma syndrome 4	OMIM2024Q4	SDHB
+186760_AR:?Immunodeficiency 123 with HPV-related verrucosis	OMIM2024Q4	CD28
+186790_AR:Immunodeficiency 19, severe combined	OMIM2024Q4	CD3D
+186854_AR:Hypotaurinemic retinal degeneration and cardiomyopathy	OMIM2024Q4	SLC6A6
+187520_AD:Macular dystrophy, retinal, 4	OMIM2024Q4	CLEC3B
+188040_AD:Thrombophilia 12 due to thrombomodulin defect##AD:{Hemolytic uremic syndrome, atypical, susceptibility to, 6}	OMIM2024Q4	THBD
+188070_AD:{Bleeding disorder, platelet-type, 13, susceptibility to}	OMIM2024Q4	TBXA2R
+188826_AD:Sorsby fundus dystrophy	OMIM2024Q4	TIMP3
+188840_AD:Cardiomyopathy, dilated, 1G##AD:Cardiomyopathy, familial hypertrophic, 9##AR:Congenital myopathy 5 with cardiomyopathy##AR:Muscular dystrophy, limb-girdle, autosomal recessive 10##AD:Myopathy, myofibrillar, 9, with early respiratory failure##AD:Tibial muscular dystrophy, tardive	OMIM2024Q4	TTN
+190198_AD:Adams-Oliver syndrome 5##AD:Aortic valve disease 1	OMIM2024Q4	NOTCH1
+190990_AD:Arthrogryposis, distal, type 1A##AD:Arthrogryposis, distal, type 2B4##AD:Congenital myopathy 23	OMIM2024Q4	TPM2
+191010_AD:Cardiomyopathy, dilated, 1Y##AD:Cardiomyopathy, hypertrophic, 3##AD:Left ventricular noncompaction 9	OMIM2024Q4	TPM1
+107720_.:Apolipoprotein C-III deficiency	OMIM2024Q4	APOC3
+110750_.:[Blood group, Gerbich]##.:{Malaria, resistance to}	OMIM2024Q4	GYPC
+112210_AR:?Immunodeficiency, common variable, 5	OMIM2024Q4	MS4A1
+114182_AD:Long QT syndrome 15	OMIM2024Q4	CALM2
+114183_AD:?Ventricular tachycardia, catecholaminergic polymorphic 6##AD:Long QT syndrome 16	OMIM2024Q4	CALM3
+115800_AD:Cataract 29, coralliform	OMIM2024Q4	CTRCT29
+116806_.:Colorectal cancer, somatic##AD:Exudative vitreoretinopathy 7##.:Hepatocellular carcinoma, somatic##.:Medulloblastoma, somatic##AD:Neurodevelopmental disorder with spastic diplegia and visual defects##.:Ovarian cancer, somatic##.:Pilomatricoma, somatic	OMIM2024Q4	CTNNB1
+117700_AR:Aceruloplasminemia	OMIM2024Q4	CP
+118494_AR:Prune belly syndrome	OMIM2024Q4	CHRM3
+118502_AD:Epilepsy, nocturnal frontal lobe, type 4	OMIM2024Q4	CHRNA2
+118661_AD:Wagner syndrome 1	OMIM2024Q4	VCAN
+120090_AD:Brain small vessel disease 2##.:{Hemorrhage, intracerebral, susceptibility to}	OMIM2024Q4	COL4A2
+120160_AD:Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2##AD:Ehlers-Danlos syndrome, arthrochalasia type, 2##AR:Ehlers-Danlos syndrome, cardiac valvular type##AD:Osteogenesis imperfecta, type II##AD:Osteogenesis imperfecta, type III##AD:Osteogenesis imperfecta, type IV##AD:{Osteoporosis, postmenopausal}	OMIM2024Q4	COL1A2
+120280_AD:Deafness, autosomal dominant 37##AR:Fibrochondrogenesis 1##AD:Marshall syndrome##AD:Stickler syndrome, type II##.:{Lumbar disc herniation, susceptibility to}	OMIM2024Q4	COL11A1
+120328_AD:Glaucoma, primary closed-angle##AR:Knobloch syndrome, type 1	OMIM2024Q4	COL18A1
+120570_AR:C1q deficiency 2	OMIM2024Q4	C1QB
+120620_.:[Blood group, Knops system]##.:{Malaria, severe, resistance to}	OMIM2024Q4	CR1
+120820_.:C4B deficiency	OMIM2024Q4	C4B
+121210_AD:Febrile seizures, familial, 1	OMIM2024Q4	45689
+123680_AD:Cataract 2, multiple types	OMIM2024Q4	CRYGC
+123841_AR:Osteogenesis imperfecta, type IX	OMIM2024Q4	PPIB
+123859_AR:Microcephaly, developmental delay, and brittle hair syndrome	OMIM2024Q4	CARS1
+123870_AR:?Mitochondrial complex IV deficiency, nuclear type 15	OMIM2024Q4	COX8A
+125270_AR:Porphyria, acute hepatic##AR:{Lead poisoning, susceptibility to}	OMIM2024Q4	ALAD
+125505_AD:{Systemic lupus erythematosus, susceptibility to}	OMIM2024Q4	DNASE1
+126065_AR:Hypercalcemia, infantile, 1	OMIM2024Q4	CYP24A1
+126420_.:DNA topoisomerase I, camptothecin-resistant	OMIM2024Q4	TOP1
+126650_AR:Diarrhea 1, secretory chloride, congenital	OMIM2024Q4	SLC26A3
+128239_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	OMIM2024Q4	DAG1
+129900_AD:?EEC syndrome-1	OMIM2024Q4	EEC1
+191030_AD:Congenital myopathy 4A, autosomal dominant##AR:Congenital myopathy 4B, autosomal recessive	OMIM2024Q4	TPM3
+191070_AR:[?Hypertryptophanemia]	OMIM2024Q4	TDO2
+191540_.:[Urate oxidase deficiency]	OMIM2024Q4	UOX
+191845_AD:Tubulointerstitial kidney disease, autosomal dominant, 1	OMIM2024Q4	UMOD
+192977_AR:Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1	OMIM2024Q4	VLDLR
+193001_AR:Parkinsonism-dystonia, infantile, 2	OMIM2024Q4	SLC18A2
+193065_.:Cardiomyopathy, dilated, 1W##AD:Cardiomyopathy, hypertrophic, 15	OMIM2024Q4	VCL
+236100_AD/IC:Holoprosencephaly 1	OMIM2024Q4	HPE1
+130130_AD:Neutropenia, cyclic##AD:Neutropenia, severe congenital 1, autosomal dominant	OMIM2024Q4	ELANE
+131230_AD:{Pregnancy loss, recurrent, susceptibility to, 3}	OMIM2024Q4	ANXA5
+131240_AR:Auriculocondylar syndrome 3##AD:Question mark ears, isolated	OMIM2024Q4	EDN1
+132890_AD:Bosch-Boonstra-Schaaf optic atrophy syndrome	OMIM2024Q4	NR2F1
+133430_.:Breast cancer, somatic##AR:Estrogen resistance##AD:{Migraine, susceptibility to}##.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	ESR1
+134570_AR:Factor XIIIA deficiency##.:{Myocardial infarction, protection against}##AD:{Venous thrombosis, protection against}	OMIM2024Q4	F13A1
+134580_AR:Factor XIIIB deficiency	OMIM2024Q4	F13B
+135940_AD/AR:Ichthyosis vulgaris##AD:{Dermatitis, atopic, susceptibility to, 2}	OMIM2024Q4	FLG
+137163_AD:{?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}	OMIM2024Q4	GABRD
+137350_AD:Amyloidosis, Finnish type	OMIM2024Q4	GSN
+137950_AD:Glomerulopathy with fibronectin deposits 1	OMIM2024Q4	GFND1
+138248_AR:?Intellectual developmental disorder, autosomal recessive 76##AD:Intellectual developmental disorder, autosomal dominant 67	OMIM2024Q4	GRIA1
+138450_AR:Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	OMIM2024Q4	SHMT2
+138981_AR:Surfactant metabolism dysfunction, pulmonary, 5	OMIM2024Q4	CSF2RB
+139190_.:?Isolated growth hormone deficiency due to defect in GHRF##.:Gigantism due to GHRF hypersecretion	OMIM2024Q4	GHRH
+139390_AD:?Sick sinus syndrome 4##AD:Neurodevelopmental disorder with hypotonia and dysmorphic facies	OMIM2024Q4	GNB2
+140400_AD:Progressive familial heart block, type II	OMIM2024Q4	PFHB2
+142220_AD:Rahman syndrome	OMIM2024Q4	H1-4
+142410_.:Diabetes mellitus, insulin-dependent, 20##.:Hepatic adenoma, somatic##AD:MODY, type III##.:Renal cell carcinoma##AR:{Diabetes mellitus, insulin-dependent}##AD:{Diabetes mellitus, noninsulin-dependent, 2}	OMIM2024Q4	HNF1A
+142810_AD:Charcot-Marie-Tooth disease, axonal, type 2W##AR:Usher syndrome type 3B	OMIM2024Q4	HARS1
+142871_AD:{Asthma, susceptibility to}	OMIM2024Q4	HLA-G
+142983_AD:Ectodermal dysplasia 3, Witkop type##AD:Orofacial cleft 5##AD:Tooth agenesis, selective, 1, with or without orofacial cleft	OMIM2024Q4	MSX1
+143850_AD:Orthostatic hypotensive disorder of Streeten	OMIM2024Q4	OHDS
+146740_AR:Immunodeficiency 20	OMIM2024Q4	FCGR3A
+147370_AD/AR:Insulin-like growth factor I, resistance to	OMIM2024Q4	IGF1R
+147440_AR:Insulin-like growth factor I deficiency	OMIM2024Q4	IGF1
+147520_AR:Developmental and epileptic encephalopathy 35##.:[Inosine triphosphatase deficiency]	OMIM2024Q4	ITPA
+148065_AD:White sponge nevus 2	OMIM2024Q4	KRT13
+148066_AD:Dermatopathia pigmentosa reticularis##AD:Epidermolysis bullosa simplex 1A, generalized severe##AD:Epidermolysis bullosa simplex 1B, generalized intermediate##AD:Epidermolysis bullosa simplex 1C, localized##AR:Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive##AD:Naegeli-Franceschetti-Jadassohn syndrome	OMIM2024Q4	KRT14
+150100_.:[Lactate dehydrogenase-B deficiency]	OMIM2024Q4	LDHB
+150200_.:[Placental lactogen deficiency]	OMIM2024Q4	CSH1
+150292_AR:Epidermolysis bullosa, junctional 3A, intermediate##AR:Epidermolysis bullosa, junctional 3B, severe	OMIM2024Q4	LAMC2
+150320_AR:Poretti-Boltshauser syndrome	OMIM2024Q4	LAMA1
+150325_AR:Nephrotic syndrome, type 5, with or without ocular abnormalities##AR:Pierson syndrome	OMIM2024Q4	LAMB2
+151430_.:Leukemia/lymphoma, B-cell, 2	OMIM2024Q4	BCL2
+152390_AD:{Asthma, diminished response to antileukotriene treatment in}##.:{Atherosclerosis, susceptibility to}	OMIM2024Q4	ALOX5
+152760_AR:?Hypogonadotropic hypogonadism 12 with or without anosmia	OMIM2024Q4	GNRH1
+152780_AR:Hypogonadotropic hypogonadism 23 with or without anosmia	OMIM2024Q4	LHB
+153390_AR:Immunodeficiency 22	OMIM2024Q4	LCK
+153450_.:Amyloidosis, hereditary systemic 5	OMIM2024Q4	LYZ
+154045_AD/AR:Cataract 19, multiple types	OMIM2024Q4	LIM2
+154276_AD:{Malignant hyperthermia susceptibility 3}	OMIM2024Q4	MHS3
+154870_AR:Keutel syndrome	OMIM2024Q4	MGP
+154950_AD:Polydactyly-macrocephaly syndrome##AD:{Pheochromocytoma, susceptibility to}	OMIM2024Q4	MAX
+155555_.:[Analgesia from kappa-opioid receptor agonist, female-specific]##AR:[Skin/hair/eye pigmentation 2, blond hair/fair skin]##AR:[Skin/hair/eye pigmentation 2, red hair/fair skin]##AR:{Albinism, oculocutaneous, type II, modifier of}##.:{Melanoma, cutaneous malignant, 5}##AR:{UV-induced skin damage}	OMIM2024Q4	MC1R
+156540_AD:Diaphyseal medullary stenosis with malignant fibrous histiocytoma	OMIM2024Q4	MTAP
+157145_.:{Prostate cancer, hereditary, 13}	OMIM2024Q4	MSMB
+160775_AD:Deafness, autosomal dominant 17##AD:Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	OMIM2024Q4	MYH9
+162030_AR:Neuropathy, hereditary sensory and autonomic, type V	OMIM2024Q4	NGF
+163970_AD:?Orthostatic intolerance	OMIM2024Q4	SLC6A2
+164005_AD:Malan syndrome##AD:Marshall-Smith syndrome	OMIM2024Q4	NFIX
+164350_AD:Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia	OMIM2024Q4	OAS1
+164780_AD:Shprintzen-Goldberg syndrome	OMIM2024Q4	SKI
+165120_AD:Autoinflammatory disease, systemic, with vasculitis	OMIM2024Q4	LYN
+165220_AR:Polydactyly, postaxial, type A8##AR:Polydactyly, preaxial I	OMIM2024Q4	GLI1
+165330_AR:?Tetra-amelia syndrome 1	OMIM2024Q4	WNT3
+165640_AD:Bachmann-Bupp syndrome	OMIM2024Q4	ODC1
+167410_AR:Congenital myopathy 19##SMu:Rhabdomyosarcoma 2, alveolar	OMIM2024Q4	PAX7
+167411_AR:Otofaciocervical syndrome 2 with T-cell deficiency	OMIM2024Q4	PAX1
+167790_AD:Pancreatitis, hereditary##AD/AR:Tropical calcific pancreatitis##AD/AR:{Fibrocalculous pancreatic diabetes, susceptibility to}	OMIM2024Q4	SPINK1
+167870_?AD:{Panic disorder, susceptibility to}##?AD:Panic disorder syndrome 1	OMIM2024Q4	PAND1
+168470_AD:Brachydactyly, type E2	OMIM2024Q4	PTHLH
+168860_AD:Patella aplasia or hypoplasia	OMIM2024Q4	PTLAH
+170261_AR:MHC class I deficiency 2	OMIM2024Q4	TAP2
+171060_AD/AR:Cholestasis, intrahepatic, of pregnancy, 3##AR:Cholestasis, progressive familial intrahepatic 3##AD/AR:Gallbladder disease 1	OMIM2024Q4	ABCB4
+173110_AD/AR:Pituitary hormone deficiency, combined or isolated, 1	OMIM2024Q4	POU1F1
+173321_AR:?Deafness, autosomal recessive 91	OMIM2024Q4	SERPINB6
+173360_AD/AR:Plasminogen activator inhibitor-1 deficiency##.:{Transcription of plasminogen activator inhibitor, modulator of}	OMIM2024Q4	SERPINE1
+105590_.:{Neuroblastoma, susceptibility to, 3}	OMIM2024Q4	ALK
+106700_AD:Total anomalous pulmonary venous return	OMIM2024Q4	TAPVR1
+107271_AR:Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	OMIM2024Q4	CD59
+107580_AD:Branchiooculofacial syndrome	OMIM2024Q4	TFAP2A
+107820_AR:Leukodystrophy, hypomyelinating, 9	OMIM2024Q4	RARS1
+108410_AR:Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive##AD:Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant	OMIM2024Q4	NARS1
+108745_AD:Epilepsy, early-onset, 3, with or without developmental delay	OMIM2024Q4	ATP6V0C
+109200_AD:Alopecia, androgenetic, 1	OMIM2024Q4	AFA1
+109350_AD:Gastroesophageal reflux	OMIM2024Q4	GER
+109543_AD:{Leukemia, chronic lymphocytic, susceptibility to, 2}	OMIM2024Q4	CLLS2
+109690_.:Beta-2-adrenoreceptor agonist, reduced response to	OMIM2024Q4	ADRB2
+114010_AR:Developmental and epileptic encephalopathy 50	OMIM2024Q4	CAD
+114105_AD:Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development##AD:Developmental and epileptic encephalopathy 91	OMIM2024Q4	PPP3CA
+114190_AR:?Lymphatic malformation 8	OMIM2024Q4	CALCRL
+114200_AD:Camptodactyly 1	OMIM2024Q4	CAMPD1
+114251_AR:Ventricular tachycardia, catecholaminergic polymorphic, 2	OMIM2024Q4	CASQ2
+114815_AR:Spinocerebellar ataxia, autosomal recessive 34	OMIM2024Q4	CA8
+115440_AD:Okur-Chung neurodevelopmental syndrome	OMIM2024Q4	CSNK2A1
+116945_AD:?Deafness, autosomal dominant 70	OMIM2024Q4	MCM2
+118955_AD:Intellectual developmental disorder, autosomal dominant 56	OMIM2024Q4	CLTC
+119530_AD:Orofacial cleft-1	OMIM2024Q4	OFC1
+120210_AD:?Epiphyseal dysplasia, multiple, 6##AR:Stickler syndrome, type IV	OMIM2024Q4	COL9A1
+120361_AR:Metaphyseal anadysplasia 2	OMIM2024Q4	MMP9
+120436_.:Lynch syndrome 2##AR:Mismatch repair cancer syndrome 1##AD:Muir-Torre syndrome	OMIM2024Q4	MLH1
+120502_AD:Branchiootic syndrome 2	OMIM2024Q4	BOS2
+120940_.:C9 deficiency##AD:{Macular degeneration, age-related, 15, susceptibility to}	OMIM2024Q4	C9
+121015_AD:Cataract 14, multiple types	OMIM2024Q4	GJA3
+122500_AD/AR:Corticosteroid-binding globulin deficiency	OMIM2024Q4	SERPINA6
+123610_AD:Cataract 10, multiple types	OMIM2024Q4	CRYBA1
+123695_AR:Lipodystrophy, congenital generalized, type 5##AR:Spondylometaphyseal dysplasia with cone-rod dystrophy	OMIM2024Q4	PCYT1A
+123831_AR:?Lissencephaly 7 with cerebellar hypoplasia	OMIM2024Q4	CDK5
+123890_AD:Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation##.:{Celiac disease, susceptibility to, 3}##.:{Diabetes mellitus, insulin-dependent, 12}##AD:{Hashimoto thyroiditis}##AD:{Systemic lupus erythematosus, susceptibility to}	OMIM2024Q4	CTLA4
+124030_AR:{Codeine sensitivity}##AR:{Debrisoquine sensitivity}	OMIM2024Q4	CYP2D6
+125671_AD:Arrhythmogenic right ventricular dysplasia 10##AR:Cardiomyopathy, dilated, 1BB	OMIM2024Q4	DSG2
+126060_AR:Megaloblastic anemia due to dihydrofolate reductase deficiency	OMIM2024Q4	DHFR
+126350_AR:Autoinflammatory-pancytopenia syndrome	OMIM2024Q4	DNASE2
+126451_AD:{Essential tremor, hereditary, 1}##AD:{Schizophrenia, susceptibility to}	OMIM2024Q4	DRD3
+126453_AD:{Attention deficit-hyperactivity disorder, susceptibility to}##AD:{Blepharospasm, primary benign}	OMIM2024Q4	DRD5
+128260_AD:Hypotrichosis 11	OMIM2024Q4	SNRPE
+130620_.:Macrocytic anemia, refractory, due to 5q deletion, somatic	OMIM2024Q4	RPS14
+131200_AR/Mu:{Endometriosis, susceptibility to, 1}	OMIM2024Q4	ENDO1
+275360_AR:Trehalase deficiency	OMIM2024Q4	TREH
+300095_XL:Allan-Herndon-Dudley syndrome	OMIM2024Q4	SLC16A2
+174761_AR:Immunodeficiency 120##AD:Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome##AD:{Colorectal cancer, susceptibility to, 10}	OMIM2024Q4	POLD1
+175850_AD:Porokeratosis 2, palmar, plantar, and disseminated	OMIM2024Q4	POROK2
+176256_AD:Developmental and epileptic encephalopathy 103	OMIM2024Q4	KCNC2
+176258_AD:Epilepsy, progressive myoclonic 7	OMIM2024Q4	KCNC1
+176640_AD:Cerebral amyloid angiopathy, PRNP-related##AD:Creutzfeldt-Jakob disease##AD:Gerstmann-Straussler disease##AD:Huntington disease-like 1##AD:Insomnia, fatal familial##AD:Spongiform encephalopathy with neuropsychiatric features##.:{Kuru, susceptibility to}	OMIM2024Q4	PRNP
+176740_AR:?Ataxia-telangiectasia-like disorder 2	OMIM2024Q4	PCNA
+176871_AD/AR:Dystonia 33##AD:Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	OMIM2024Q4	EIF2AK2
+176894_AD:Aortic aneurysm, familial thoracic 8	OMIM2024Q4	PRKG1
+177075_AD:Ayme-Gripp syndrome##AD:Cataract 21, multiple types	OMIM2024Q4	MAF
+178620_AD:Surfactant metabolism dysfunction, pulmonary, 2	OMIM2024Q4	SFTPC
+178640_AR:Surfactant metabolism dysfunction, pulmonary, 1	OMIM2024Q4	SFTPB
+178642_AD:Interstitial lung disease 2	OMIM2024Q4	SFTPA2
+179020_AR:Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	OMIM2024Q4	PDXK
+179615_.:Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity##AR:Combined cellular and humoral immune defects with granulomas##AR:Omenn syndrome##AR:Severe combined immunodeficiency, B cell-negative	OMIM2024Q4	RAG1
+179835_AD:Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6	OMIM2024Q4	RPA1
+180071_AR:Retinitis pigmentosa 43	OMIM2024Q4	PDE6A
+180385_.:Leukemia, acute T-cell	OMIM2024Q4	LMO2
+182810_AD:Developmental and epileptic encephalopathy 5##AD:Developmental delay with or without epilepsy##AD:Neuronopathy, distal hereditary motor, autosomal dominant 11##AD:Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	OMIM2024Q4	SPTAN1
+182860_AD:Elliptocytosis-2##AR:Pyropoikilocytosis##AR:Spherocytosis, type 3	OMIM2024Q4	SPTA1
+183840_AD:{Spondyloarthropathy, susceptibility to, 2}	OMIM2024Q4	SPDA2
+184757_AD:46XX sex reversal 4##AD:46XY sex reversal 3##AD:Adrenocortical insufficiency##AD:Premature ovarian failure 7##AD:Spermatogenic failure 8	OMIM2024Q4	NR5A1
+185250_.:{Coronary heart disease, susceptibility to, 6}	OMIM2024Q4	MMP3
+185860_AR:Developmental and epileptic encephalopathy 113	OMIM2024Q4	SV2A
+186357_AD/AR/Mu:{Obesity, association with}	OMIM2024Q4	SDC3
+186830_AR:Immunodeficiency 18##AR:Immunodeficiency 18, SCID variant	OMIM2024Q4	CD3E
+186855_.:Leukemia, T-cell acute lymphocytic, somatic	OMIM2024Q4	TAL2
+187790_AR:Trichothiodystrophy 7, nonphotosensitive	OMIM2024Q4	TARS1
+189800_AD:Preeclampsia/eclampsia 1##AD:{Hypertension, pregnancy-induced}	OMIM2024Q4	PEE1
+189980_AD:Congenital heart defects and skeletal malformations syndrome##SMu:Leukemia, Philadelphia chromosome-positive, resistant to imatinib	OMIM2024Q4	ABL1
+189990_.:{T-cell acute lymphoblastic leukemia}	OMIM2024Q4	MYB
+190120_AD:Hypothyroidism, congenital, nongoitrous, 6	OMIM2024Q4	THRA
+190230_AD:Arrhythmogenic right ventricular dysplasia 1##AD:Loeys-Dietz syndrome 5	OMIM2024Q4	TGFB3
+191045_AD:Cardiomyopathy, dilated, 1D##AD:Cardiomyopathy, familial restrictive, 3##AD:Cardiomyopathy, hypertrophic, 2##AD:Left ventricular noncompaction 6	OMIM2024Q4	TNNT2
+191050_AR:Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities##AD:Neuronopathy, distal hereditary motor, autosomal dominant 9	OMIM2024Q4	WARS1
+191275_AR:Oculocutaneous albinism, type VIII	OMIM2024Q4	DCT
+191306_.:Hemangioma, capillary infantile, somatic##AD:{Hemangioma, capillary infantile, susceptibility to}	OMIM2024Q4	KDR
+134638_AD:Autoimmune lymphoproliferative syndrome, type IB##AD/SMu:{Lung cancer, susceptibility to}	OMIM2024Q4	FASLG
+134770_AD:?Hemochromatosis, type 5##AD:Neurodegeneration with brain iron accumulation 9	OMIM2024Q4	FTH1
+137164_AD:Developmental and epileptic encephalopathy 74##AD:Febrile seizures, familial, 8##AD:Generalized epilepsy with febrile seizures plus, type 3	OMIM2024Q4	GABRG2
+137290_AR:Corneal dystrophy, gelatinous drop-like	OMIM2024Q4	TACSTD2
+137295_AD:Emberger syndrome##AD:Immunodeficiency 21##AD/SMu:{Leukemia, acute myeloid, susceptibility to}##.:{Myelodysplastic syndrome, susceptibility to}	OMIM2024Q4	GATA2
+138033_AR:Mahvash disease	OMIM2024Q4	GCGR
+138040_AD:Glucocorticoid resistance	OMIM2024Q4	NR3C1
+138130_AD:Hyperinsulinism-hyperammonemia syndrome	OMIM2024Q4	GLUD1
+138180_.:Aspartate aminotransferase, serum level of, QTL1	OMIM2024Q4	GOT1
+138249_AR:Developmental and epileptic encephalopathy 101##AD:Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant##AR:Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	OMIM2024Q4	GRIN1
+138430_AD:{Type 2 diabetes mellitus, susceptibility to}	OMIM2024Q4	GPD2
+138760_AD:[Glyoxalase II deficiency]	OMIM2024Q4	HAGH
+139250_AR:Growth hormone deficiency, isolated, type IA##.:Growth hormone deficiency, isolated, type IB##AD:Growth hormone deficiency, isolated, type II##AR:Kowarski syndrome	OMIM2024Q4	GH1
+139900_AD:[Handedness]	OMIM2024Q4	HSR
+141180_AR:Immunodeficiency 72 with autoinflammation	OMIM2024Q4	NCKAP1L
+141850_AD:Erythrocytosis, familial, 7##AD:Heinz body anemia##.:Hemoglobin H disease, deletional and nondeletional##.:Thalassemia, alpha-	OMIM2024Q4	HBA2
+142250_AD:Cyanosis, transient neonatal##AD:Fetal hemoglobin quantitative trait locus 1	OMIM2024Q4	HBG2
+142992_AR:Oculoauricular syndrome	OMIM2024Q4	HMX1
+142993_AR:Microphthalmia, isolated 2##AR:Microphthalmia/coloboma 3	OMIM2024Q4	VSX2
+146928_AR:?WHIM syndrome 2	OMIM2024Q4	CXCR2
+147061_.:{?Allergy and asthma susceptibility}	OMIM2024Q4	IGES
+147110_.:IgG2 deficiency, selective	OMIM2024Q4	IGHG2
+147570_AR:?Immunodeficiency 69, mycobacteriosis##.:{AIDS, rapid progression to}##.:{Aplastic anemia}##.:{Hepatitis C virus, response to therapy of}##AD:{TSC2 angiomyolipomas, renal, modifier of}##.:{Tuberculosis, protection against}	OMIM2024Q4	IFNG
+147683_.:{Allergic rhinitis, susceptibility to}##AD:{Asthma, susceptibility to}	OMIM2024Q4	IL13
+147795_AD:Autoinflammation, immune dysregulation, and eosinophilia	OMIM2024Q4	JAK1
+147910_.:[Kallikrein, decreased urinary activity of]	OMIM2024Q4	KLK1
+148040_AD:Dowling-Degos disease 1##AD:Epidermolysis bullosa simplex 2A, generalized severe##AD:Epidermolysis bullosa simplex 2B, generalized intermediate##AD:Epidermolysis bullosa simplex 2C, localized##AR:Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive##AD:Epidermolysis bullosa simplex 2E, with migratory circinate erythema##AD:Epidermolysis bullosa simplex 2F, with mottled pigmentation	OMIM2024Q4	KRT5
+148041_AD:Pachyonychia congenita 3	OMIM2024Q4	KRT6A
+148070_AR:Cirrhosis, cryptogenic##AR:{Cirrhosis, noncryptogenic, susceptibility to}	OMIM2024Q4	KRT18
+150571_.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	LGALS2
+151350_AR:?Infantile liver failure syndrome 1	OMIM2024Q4	LARS1
+151440_.:Leukemia, T-cell acute lymphoblastoid	OMIM2024Q4	LYL1
+151670_AR:Hepatic lipase deficiency##.:[High density lipoprotein cholesterol level QTL 12]##AD:{Diabetes mellitus, noninsulin-dependent}	OMIM2024Q4	LIPC
+300104_XLD:Intellectual developmental disorder, X-linked 41	OMIM2024Q4	GDI1
+300121_XL:Lissencephaly, X-linked##XL:Subcortical laminal heterotopia, X-linked	OMIM2024Q4	DCX
+300136_.:{Diabetes mellitus, insulin-dependent, X-linked}	OMIM2024Q4	IDDMX
+300145_.:{Angioedema induced by ACE inhibitors, susceptibility to}	OMIM2024Q4	XPNPEP2
+300155_.:Retinitis pigmentosa 24	OMIM2024Q4	RP24
+300161_XLR:MEHMO syndrome	OMIM2024Q4	EIF2S3
+300172_XLR:FG syndrome 4##XL:Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia##XLR:Intellectual developmental disorder, with or without nystagmus	OMIM2024Q4	CASK
+300199_XLR:?Intellectual developmental disorder, X-linked syndromic, Gustavson type##XLR:?Intellectual developmental disorder, X-linked syndromic, Shashi type	OMIM2024Q4	RBMX
+300202_XLR:Spondyloepiphyseal dysplasia tarda	OMIM2024Q4	TRAPPC2
+300206_XLR:Intellectual developmental disorder, X-linked 21	OMIM2024Q4	IL1RAPL1
+300231_XL:Intellectual developmental disorder, X-linked syndromic, Christianson type	OMIM2024Q4	SLC9A6
+300245_XLD:Ptosis, hereditary congenital 2	OMIM2024Q4	PTOS2
+300256_XLD:HSD10 mitochondrial disease	OMIM2024Q4	HSD17B10
+300273_XLD:Goiter, multinodular, 2	OMIM2024Q4	MNG2
+300311_XLR:Spermatogenic failure, X-linked 2	OMIM2024Q4	TEX11
+300324_XLR:Intellectual developmental disorder, X-linked 53	OMIM2024Q4	MRX53
+300336_XL:{Autism susceptibility, X-linked 1}	OMIM2024Q4	NLGN3
+300358_XLR:Prieto syndrome	OMIM2024Q4	WNK3
+300368_XLR:Intellectual developmental disorder, X-linked 108	OMIM2024Q4	SLC9A7
+300369_XL:Spermatogenic failure, X-linked, 4	OMIM2024Q4	GCNA
+300377_XLR:Becker muscular dystrophy##XL:Cardiomyopathy, dilated, 3B##XLR:Duchenne muscular dystrophy	OMIM2024Q4	DMD
+300379_XL:Tonne-Kalscheuer syndrome	OMIM2024Q4	RLIM
+300383_XLR:Properdin deficiency, X-linked	OMIM2024Q4	CFP
+300384_XLR:Emery-Dreifuss muscular dystrophy 1, X-linked	OMIM2024Q4	EMD
+300386_XLR:Immunodeficiency, X-linked, with hyper-IgM	OMIM2024Q4	CD40LG
+300392_XLR:Neutropenia, severe congenital, X-linked##XLR:Thrombocytopenia, X-linked##XLR:Thrombocytopenia, X-linked, intermittent##XLR:Wiskott-Aldrich syndrome	OMIM2024Q4	WAS
+300403_XL:?Mitochondrial complex I deficiency, nuclear type 30##XLD:Linear skin defects with multiple congenital anomalies 3	OMIM2024Q4	NDUFB11
+300454_XLR:Intellectual developmental disorder, X-linked 77	OMIM2024Q4	MRX77
+300488_XLD:{Menopause, natural, age at, QTL1}	OMIM2024Q4	MENOQ1
+300520_XLR:?Azoospermia, obstructive, with nephrolithiasis	OMIM2024Q4	CLDN2
+300521_XLR:Intellectual developmental disorder, X-linked 100##XLR:Taurodontism, microdontia, and dens invaginatus	OMIM2024Q4	KIF4A
+300552_XLR:Opitz GBBB syndrome	OMIM2024Q4	MID1
+300572_XL:Congenital bilateral absence of vas deferens, X-linked	OMIM2024Q4	ADGRG2
+300587_XLR:Immunodeficiency 118, mycobacteriosis	OMIM2024Q4	MCTS1
+300605_.:Retinitis pigmentosa 34	OMIM2024Q4	RP34
+300609_XLD:Basilicata-Akhtar syndrome	OMIM2024Q4	MSL3
+300647_XLD:Osteopathia striata with cranial sclerosis	OMIM2024Q4	AMER1
+300688_XLR:Shukla-Vernon syndrome	OMIM2024Q4	BCORL1
+300704_.:{Prostate cancer, hereditary, X-linked 2}	OMIM2024Q4	HPCX2
+300750_XLR:Spastic paraplegia 34, X-linked	OMIM2024Q4	SPG34
+300775_XLR:Autoinflammatory syndrome, familial, X-linked, Behcet-like 2	OMIM2024Q4	ELF4
+300777_XLR:{Autism, susceptibility to, X-linked 6}	OMIM2024Q4	TMLHE
+300839_XLR:Retinoschisis	OMIM2024Q4	RS1
+300858_XLR:Intellectual developmental disorder, X-linked syndromic 17	OMIM2024Q4	MRXS17
+300864_XLR:Cerebral-cerebellar-coloboma syndrome, X-linked	OMIM2024Q4	CCCSX
+300886_XLR:Intellectual developmental disorder, X-linked, syndromic 32	OMIM2024Q4	MRXS32
+300904_XLR:Hypothyroidism, congenital, nongoitrous, 9	OMIM2024Q4	IRS4
+301057_XLR:Spermatogenic failure, X-linked 3	OMIM2024Q4	CFAP47
+191330_AR:Mitochondrial complex III deficiency, nuclear type 3	OMIM2024Q4	UQCRB
+191523_.:{Hyperlipidemia, familial combined, susceptibility to}	OMIM2024Q4	USF1
+192240_.:{Microvascular complications of diabetes 1}	OMIM2024Q4	VEGFA
+192340_AD:Diabetes insipidus, neurohypophyseal	OMIM2024Q4	AVP
+194360_AR:?Spinocerebellar ataxia, autosomal recessive 26	OMIM2024Q4	XRCC1
+200350_AR:Acetyl-CoA carboxylase deficiency	OMIM2024Q4	ACACA
+209901_AR/DR:Bardet-Biedl syndrome 1	OMIM2024Q4	BBS1
+217030_AR:Complement factor I deficiency##AD:{Hemolytic uremic syndrome, atypical, susceptibility to, 3}##AD:{Macular degeneration, age-related, 13, susceptibility to}	OMIM2024Q4	CFI
+220200_IC:Dandy-Walker syndrome	OMIM2024Q4	DWS
+153440_.:{Leprosy, susceptibility to, 4}##.:{Myocardial infarction, susceptibility to}##.:{Psoriatic arthritis, susceptibility to}	OMIM2024Q4	LTA
+153456_AD:{Exfoliation syndrome, susceptibility to}	OMIM2024Q4	LOXL1
+153620_.:{Rheumatoid arthritis, systemic juvenile, susceptibility to}	OMIM2024Q4	MIF
+154235_AR:Retinitis pigmentosa 62	OMIM2024Q4	MAK
+154580_AR:Congenital disorder of deglycosylation 2	OMIM2024Q4	MAN2C1
+157129_AD:?Deafness, autosomal dominant 83##AD:Periventricular nodular heterotopia 9	OMIM2024Q4	MAP1B
+157660_AR:Anauxetic dysplasia 1##AR:Cartilage-hair hypoplasia##AR:Metaphyseal dysplasia without hypotrichosis	OMIM2024Q4	RMRP
+158105_.:{Coronary artery disease, modifier of}##.:{HIV-1, resistance to}##.:{Mycobacterium tuberculosis, susceptibility to}##AD:{Spina bifida, susceptibility to}	OMIM2024Q4	CCL2
+158340_AD:Tubulointerstitial kidney disease, autosomal dominant, 2	OMIM2024Q4	MUC1
+159465_AD:?Narcolepsy 7	OMIM2024Q4	MOG
+160741_.:Carney complex variant##AD:Trismus-pseudocamptodactyly syndrome	OMIM2024Q4	MYH8
+160770_AD:?Atrial fibrillation, familial, 18	OMIM2024Q4	MYL4
+161900_AD:Nephropathy-hypertension	OMIM2024Q4	RFH1
+162150_AR:Endocrinopathy due to proprotein convertase 1/3 deficiency##.:{Obesity, susceptibility to, BMIQ12}	OMIM2024Q4	PCSK1
+162330_AR:Hypogonadotropic hypogonadism 10 with or without anosmia	OMIM2024Q4	TAC3
+163729_AD:{Alzheimer disease, late-onset, susceptibility to}##.:{Coronary artery spasm 1, susceptibility to}##AD:{Hypertension, pregnancy-induced}##Mu:{Hypertension, susceptibility to}##Mu:{Ischemic stroke, susceptibility to}##.:{Placental abruption}	OMIM2024Q4	NOS3
+164015_AD:Amyotrophic lateral sclerosis 21	OMIM2024Q4	MATR3
+164820_AR:Osteogenesis imperfecta, type XV##AD:{Osteoporosis, early-onset, susceptibility to, autosomal dominant}	OMIM2024Q4	WNT1
+164920_AD/IC:Gastrointestinal stromal tumor, familial##.:Germ cell tumors, somatic##.:Leukemia, acute myeloid, somatic##AD:Mastocytosis, cutaneous##.:Mastocytosis, systemic, somatic##AD:Piebaldism	OMIM2024Q4	KIT
+165215_AD:Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	OMIM2024Q4	MECOM
+165240_AD:Greig cephalopolysyndactyly syndrome##AD:Pallister-Hall syndrome##AD:Polydactyly, postaxial, types A1 and B##AD:Polydactyly, preaxial, type IV	OMIM2024Q4	GLI3
+167420_AD/AR:Agnathia-otocephaly complex	OMIM2024Q4	PRRX1
+171720_?AD:{Alkaline phosphatase, plasma level of, QTL1}	OMIM2024Q4	ALPQTL1
+171760_AD/AR:Hypophosphatasia, adult##AR:Hypophosphatasia, childhood##AR:Hypophosphatasia, infantile##AD/AR:Odontohypophosphatasia	OMIM2024Q4	ALPL
+172100_AR:Immunodeficiency 23	OMIM2024Q4	PGM3
+172439_AR:?Phosphoribosylaminoimidazole carboxylase deficiency	OMIM2024Q4	PAICS
+172860_AR:Osteogenesis imperfecta, type VI	OMIM2024Q4	SERPINF1
+173515_AR:Bernard-Soulier syndrome, type C	OMIM2024Q4	GP9
+173910_AD:Polycystic kidney disease 2	OMIM2024Q4	PKD2
+176310_AD:Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	OMIM2024Q4	PBX1
+100070_AD:Aortic aneurysm, familial abdominal 1	OMIM2024Q4	AAA1
+100690_AR:Multiple pterygium syndrome, lethal type##AD:Myasthenic syndrome, congenital, 1A, slow-channel##AD/AR:Myasthenic syndrome, congenital, 1B, fast-channel	OMIM2024Q4	CHRNA1
+102545_AD:Megacystis-microcolon-intestinal hypoperistalsis syndrome 5##AD:Visceral myopathy 1	OMIM2024Q4	ACTG2
+102573_AD:Cardiomyopathy, dilated, 1AA, with or without LVNC##AD:Cardiomyopathy, hypertrophic, 23, with or without LVNC##AD:Congenital myopathy 8##AD:Myopathy, distal, 6, adult onset	OMIM2024Q4	ACTN2
+102574_AR:[Alpha-actinin-3 deficiency]##AR:[Sprinting performance]	OMIM2024Q4	ACTN3
+103270_AR:Auditory neuropathy and optic atrophy##AR:Multiple mitochondrial dysfunctions syndrome 9B	OMIM2024Q4	FDXR
+106195_AD:Short QT syndrome 7	OMIM2024Q4	SLC4A3
+107265_AR:Immunodeficiency, common variable, 3	OMIM2024Q4	CD19
+107323_AR:Epilepsy, early-onset, 4, vitamin B6-dependent	OMIM2024Q4	ALDH7A1
+107400_AR:Emphysema due to AAT deficiency##AR:Emphysema-cirrhosis, due to AAT deficiency##AR:Hemorrhagic diathesis due to antithrombin Pittsburgh	OMIM2024Q4	SERPINA1
+107730_AD:Hypercholesterolemia, familial, 2##AR:Hypobetalipoproteinemia	OMIM2024Q4	APOB
+107770_AR:?Keratosis pilaris atrophicans##AD:Developmental dysplasia of the hip 3	OMIM2024Q4	LRP1
+108370_AR:Asparagine synthetase deficiency	OMIM2024Q4	ASNS
+108961_AR:Acromesomelic dysplasia 1, Maroteaux type##AD:Epiphyseal chondrodysplasia, Miura type##AD:Short stature with nonspecific skeletal abnormalities	OMIM2024Q4	NPR2
+109280_AR:?Osteopetrosis, autosomal recessive 9	OMIM2024Q4	SLC4A2
+109535_AR:Immunodeficiency with hyper-IgM, type 3	OMIM2024Q4	CD40
+109630_AD:?[Short sleep, familial natural, 2]##.:[Resting heart rate]	OMIM2024Q4	ADRB1
+109760_AD:?Periodic fever, menstrual cycle dependent	OMIM2024Q4	HTR1A
+111730_.:Sd(a) polyagglutination syndrome##.:[Blood group, Sid system]	OMIM2024Q4	B4GALNT2
+112264_AR:Osteogenesis imperfecta, type XIII	OMIM2024Q4	BMP1
+112266_AD:{Iron overload, susceptibility to}	OMIM2024Q4	BMP6
+114078_AR:?Intellectual developmental disorder, autosomal recessive 63##AD:Intellectual developmental disorder, autosomal dominant 53	OMIM2024Q4	CAMK2A
+114220_AR:Spastic paraplegia 76, autosomal recessive	OMIM2024Q4	CAPN1
+114835_AD:Drug metabolism, altered, CES1-related	OMIM2024Q4	CES1
+115441_AD:Poirier-Bienvenu neurodevelopmental syndrome	OMIM2024Q4	CSNK2B
+116897_AD/SMu:?Leukemia, acute myeloid##.:Leukemia, acute myeloid, somatic	OMIM2024Q4	CEBPA
+116952_AD:Takenouchi-Kosaki syndrome	OMIM2024Q4	CDC42
+118423_AD:Duane retraction syndrome 2	OMIM2024Q4	CHN1
+118490_AR:Myasthenic syndrome, congenital, 6, presynaptic	OMIM2024Q4	CHAT
+120070_AD:Alport syndrome 3A, autosomal dominant##.:Alport syndrome 3B, autosomal recessive##AD:Hematuria, benign familial, 2	OMIM2024Q4	COL4A3
+120130_AD:?Retinal arteries, tortuosity of##AD:Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps##AD:Brain small vessel disease with or without ocular anomalies##AD:Microangiopathy and leukoencephalopathy, pontine, autosomal dominant##.:{Hemorrhage, intracerebral, susceptibility to}	OMIM2024Q4	COL4A1
+120180_AD:Ehlers-Danlos syndrome, vascular type##AR:Polymicrogyria with or without vascular-type EDS	OMIM2024Q4	COL3A1
+120215_AD:Ehlers-Danlos syndrome, classic type, 1##AD:Fibromuscular dysplasia, multifocal	OMIM2024Q4	COL5A1
+120575_AR:C1q deficiency 3	OMIM2024Q4	C1QC
+120960_AR:C8 deficiency, type II	OMIM2024Q4	C8B
+122460_AD:{Human coronavirus sensitivity}	OMIM2024Q4	HCVS
+123620_AD:Cataract 3, multiple types	OMIM2024Q4	CRYBB2
+123631_AD:Cataract 23	OMIM2024Q4	CRYBA4
+123825_AR:Retinitis pigmentosa 49	OMIM2024Q4	CNGA1
+123860_AR:Immunodeficiency 24	OMIM2024Q4	CTPS1
+123864_AR:Mitochondrial complex IV deficiency, nuclear type 16	OMIM2024Q4	COX4I1
+301105_XLR:?Spermatogenic failure, X-linked, 7	OMIM2024Q4	CT55
+301770_XL:Myopia 26, X-linked, female-limited	OMIM2024Q4	ARR3
+301870_XL:Meester-Loeys syndrome##XLR:Spondyloepimetaphyseal dysplasia, X-linked	OMIM2024Q4	BGN
+308380_XLR:Combined immunodeficiency, X-linked, moderate##XLR:Severe combined immunodeficiency, X-linked	OMIM2024Q4	IL2RG
+309060_XLD:Danon disease	OMIM2024Q4	LAMP2
+309550_XLD:Fragile X syndrome##XLD:Fragile X tremor/ataxia syndrome##XL:Premature ovarian failure 1	OMIM2024Q4	FMR1
+309845_XLR:Immunodeficiency 50	OMIM2024Q4	MSN
+311050_XL:Optic atrophy 2, X-linked	OMIM2024Q4	OPA2
+311800_XLR:Phosphoglycerate kinase 1 deficiency	OMIM2024Q4	PGK1
+311850_XLR:Arts syndrome##XLR:Charcot-Marie-Tooth disease, X-linked recessive, 5##XL:Deafness, X-linked 1##XLR:Gout, PRPS-related##XLR:Phosphoribosylpyrophosphate synthetase superactivity	OMIM2024Q4	PRPS1
+312180_XLR:Intellectual developmental disorder, X-linked syndromic, Nascimento type	OMIM2024Q4	UBE2A
+313430_.:Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency##XL:Panhypopituitarism, X-linked	OMIM2024Q4	SOX3
+314375_SMo/XLD:Congenital disorder of glycosylation, type IIm	OMIM2024Q4	SLC35A2
+314670_XL:X-inactivation, familial skewed	OMIM2024Q4	XIST
+314980_XL:Intellectual developmental disorder, X-linked syndromic 37	OMIM2024Q4	ZFX
+600005_AR:MHC class II deficiency 1##.:{Rheumatoid arthritis, susceptibility to}	OMIM2024Q4	CIITA
+600013_AD:Gabriele-de Vries syndrome	OMIM2024Q4	YY1
+600108_AD:?Spondyloepimetaphyseal dysplasia, Missouri type##AD:Metaphyseal anadysplasia 1##AR:Metaphyseal dysplasia, Spahr type	OMIM2024Q4	MMP13
+600153_AR:Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	OMIM2024Q4	PIGF
+600184_AR:?Neurodegeneration with brain iron accumulation 8	OMIM2024Q4	CRAT
+600201_.:[Skin/hair/eye pigmentation 9, brown/nonbrown eyes]##.:[Skin/hair/eye pigmentation 9, dark/light hair]	OMIM2024Q4	ASIP
+600222_AD:Lymphatic malformation 11	OMIM2024Q4	TIE1
+600232_AD:Developmental and epileptic encephalopathy 92	OMIM2024Q4	GABRB2
+600244_Mu:{Multiple sclerosis, disease progression, modifier of}##.:{Systemic lupus erythematosus, susceptibility to, 2}	OMIM2024Q4	PDCD1
+600375_AR:?Fanconi anemia, complementation group U##AR:?Premature ovarian failure 17##AR:Spermatogenic failure 50	OMIM2024Q4	XRCC2
+176705_AD/SMu:{Breast cancer, susceptibility to}	OMIM2024Q4	PHB1
+176801_AR:Combined SAP deficiency##.:Gaucher disease, atypical##AR:Krabbe disease, atypical##AR:Metachromatic leukodystrophy due to SAP-b deficiency##AD:{Parkinson disease 24, autosomal dominant, susceptibility to}	OMIM2024Q4	PSAP
+176847_AD:Immunodeficiency 121 with autoinflammation##AR:Proteasome-associated autoinflammatory syndrome 5	OMIM2024Q4	PSMB10
+176876_AD:LEOPARD syndrome 1##.:Leukemia, juvenile myelomonocytic, somatic##AD:Metachondromatosis##AD:Noonan syndrome 1	OMIM2024Q4	PTPN11
+176895_.:[Protein Z deficiency]	OMIM2024Q4	PROZ
+176911_AD:Marbach-Schaaf neurodevelopmental syndrome	OMIM2024Q4	PRKAR1B
+177015_AR:Cholestasis, progressive familial intrahepatic, 13	OMIM2024Q4	PSKH1
+177046_AR:Proteasome-associated autoinflammatory syndrome 1 and digenic forms	OMIM2024Q4	PSMB8
+177060_AD:Polycystic liver disease 1	OMIM2024Q4	PRKCSH
+178300_AD:Ptosis, hereditary congenital, 1##AD:?Ptosis, congenital	OMIM2024Q4	PTOS1
+179060_AR:Pyruvate dehydrogenase E1-beta deficiency	OMIM2024Q4	PDHB
+179061_AR:Spermatogenic failure 70	OMIM2024Q4	PDHA2
+179410_AR:Deafness, autosomal recessive 24	OMIM2024Q4	RDX
+179820_AR:Renal tubular dysgenesis##AD:Tubulointerstitial kidney disease, autosomal dominant, 4##.:[Hyperproreninemia]	OMIM2024Q4	REN
+180040_AR:Leber congenital amaurosis 12	OMIM2024Q4	RD3
+180203_AR:Brunet-Wagner neurodevelopmental syndrome	OMIM2024Q4	RBL2
+180380_AD:Night blindness, congenital stationary, autosomal dominant 1##AD/AR:Retinitis pigmentosa 4, autosomal dominant or recessive##AD/AR:Retinitis punctata albescens	OMIM2024Q4	RHO
+180381_.:Oguchi disease-2	OMIM2024Q4	GRK1
+182135_.:{Major depressive disorder, response to citalopram therapy in}##AD:{Obsessive-compulsive disorder, susceptibility to}##AD:{Schizophrenia, susceptibility to}	OMIM2024Q4	HTR2A
+182391_AD:Developmental and epileptic encephalopathy 62##AD:Epilepsy, familial focal, with variable foci 4	OMIM2024Q4	SCN3A
+182500_AR:Neuronopathy, distal hereditary motor, autosomal recessive 8	OMIM2024Q4	SORD
+182889_AD:Oocyte/zygote/embryo maturation arrest 3	OMIM2024Q4	ZP3
+185535_AR:Diarrhea 5, with tufting enteropathy, congenital##AD:Lynch syndrome 8	OMIM2024Q4	EPCAM
+186591_AR:?Deafness, autosomal recessive 123	OMIM2024Q4	STX4
+186880_AR:Immunodeficiency 7, TCR-alpha/beta deficient	OMIM2024Q4	TRAC
+186910_AR:Immunodeficiency 116	OMIM2024Q4	CD8A
+187011_.:{HIV-1 disease, delayed progression of}##.:{HIV-1 disease, rapid progression of}	OMIM2024Q4	CCL5
+188450_AR:Thyroid dyshormonogenesis 3##.:{Autoimmune thyroid disease, susceptibility to, 3}	OMIM2024Q4	TG
+189940_AR:?Intellectual developmental disorder, autosomal recessive 79	OMIM2024Q4	TPR
+191043_AD:Arthrogryposis, distal, type 2B1	OMIM2024Q4	TNNI2
+191110_AD:Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	OMIM2024Q4	TUBA4A
+191190_AD:Periodic fever, familial##.:{Multiple sclerosis, susceptibility to, 5}	OMIM2024Q4	TNFRSF1A
+191290_AR:Segawa syndrome, recessive	OMIM2024Q4	TH
+191318_AD:Developmental delay, dysmorphic facies, and brain anomalies	OMIM2024Q4	U2AF2
+191350_AR:Congenital disorder of glycosylation, type Ij##AR:Myasthenic syndrome, congenital, 13, with tubular aggregates	OMIM2024Q4	DPAGT1
+193067_AD/AR:Bleeding disorder, platelet-type, 21	OMIM2024Q4	FLI1
+246600_AR:?Pancreatic lipase deficiency	OMIM2024Q4	PNLIP
+255500_AR:Myopia 18	OMIM2024Q4	MYP18
+261800_AR:Pierre Robin syndrome	OMIM2024Q4	PRBNS
+263450_AR:Polydactyly, postaxial, type A5	OMIM2024Q4	PAPA5
+300011_XLR:Menkes disease##XLR:Neuronopathy, distal hereditary motor, X-linked##XLR:Occipital horn syndrome	OMIM2024Q4	ATP7A
+300013_XL:Microphthalmia, syndromic 1##XLD/XLR:Ogden syndrome	OMIM2024Q4	NAA10
+300017_XL:?FG syndrome 2##XL:Cardiac valvular dysplasia, X-linked##XLR:Congenital short bowel syndrome##XLR:Frontometaphyseal dysplasia 1##XLD:Heterotopia, periventricular, 1##XLR:Intestinal pseudoobstruction, neuronal##XLD:Melnick-Needles syndrome##XLD:Otopalatodigital syndrome, type I##XLD:Otopalatodigital syndrome, type II##XLD:Terminal osseous dysplasia	OMIM2024Q4	FLNA
+300036_XLR:Cerebral creatine deficiency syndrome 1	OMIM2024Q4	SLC6A8
+300046_XL:Intellectual developmental disorder, X-linked 23	OMIM2024Q4	MRX23
+124015_AR:Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis##.:Disordered steroidogenesis due to cytochrome P450 oxidoreductase	OMIM2024Q4	POR
+125485_AD:Deafness, autosomal dominant 39, with dentinogenesis##AD:Dentin dysplasia, type II##AD:Dentinogenesis imperfecta, Shields type II##AD:Dentinogenesis imperfecta, Shields type III	OMIM2024Q4	DSPP
+125520_AD:Cayler cardiofacial syndrome	OMIM2024Q4	ACF
+125670_AR:Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE##AD:Keratosis palmoplantaris striata I, AD	OMIM2024Q4	DSG1
+126141_AD:Intellectual developmental disorder, autosomal dominant 33##AD:{Ventricular fibrillation, paroxysmal familial, 2}	OMIM2024Q4	DPP6
+126430_.:DNA topoisomerase II, resistance to inhibition of, by amsacrine	OMIM2024Q4	TOP2A
+126431_AD:B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	OMIM2024Q4	TOP2B
+127600_AD:Dyskeratosis, hereditary benign intraepithelial	OMIM2024Q4	DKBI
+129010_AD:Charcot-Marie-Tooth disease, type 1D##AD/AR:Dejerine-Sottas disease##AD/AR:Hypomyelinating neuropathy, congenital, 1	OMIM2024Q4	EGR2
+130180_AD:Electroencephalographic variant pattern 1	OMIM2024Q4	EEGV1
+133550_AR:Dicarboxylic aminoaciduria##.:{?Schizophrenia susceptibility 18}	OMIM2024Q4	SLC1A1
+134370_AD:Basal laminar drusen##AD/AR:Complement factor H deficiency##AD/AR:{Hemolytic uremic syndrome, atypical, susceptibility to, 1}##AD:{Macular degeneration, age-related, 4}	OMIM2024Q4	CFH
+134371_AD/AR:{Hemolytic uremic syndrome, atypical, susceptibility to}##AD:{Macular degeneration, age-related, reduced risk of}	OMIM2024Q4	CFHR1
+134820_AR:Afibrinogenemia, congenital##AD:Amyloidosis, hereditary systemic 2##AD:Dysfibrinogenemia, congenital##AD:Hypodysfibrinogenemia, congenital	OMIM2024Q4	FGA
+137030_AR:Galactosemia IV	OMIM2024Q4	GALM
+137160_AD:Developmental and epileptic encephalopathy 19##.:{Epilepsy, childhood absence, susceptibility to, 4}##.:{Epilepsy, juvenile myoclonic, susceptibility to, 5}	OMIM2024Q4	GABRA1
+137167_.:Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency##AR:Vitamin K-dependent clotting factors, combined deficiency of, 1	OMIM2024Q4	GGCX
+137780_AD:Alexander disease	OMIM2024Q4	GFAP
+137960_AR:Charcot-Marie-Tooth disease, axonal, type 2EE##AR:Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	OMIM2024Q4	MPV17
+138160_AR:Fanconi-Bickel syndrome##AD:{Diabetes mellitus, noninsulin-dependent}	OMIM2024Q4	SLC2A2
+138246_AD:Neurodevelopmental disorder with or without seizures and gait abnormalities	OMIM2024Q4	GRIA4
+138320_AR:Hemolytic anemia due to glutathione peroxidase deficiency	OMIM2024Q4	GPX1
+138680_AR:?Alopecia-intellectual disability syndrome 1	OMIM2024Q4	AHSG
+138720_AR:Bernard-Soulier syndrome, type B##AR:Giant platelet disorder, isolated	OMIM2024Q4	GP1BB
+139150_.:Basal cell carcinoma, somatic##AD:Capillary malformation-arteriovenous malformation 1	OMIM2024Q4	RASA1
+139313_AD:Hypocalcemia, autosomal dominant 2##AD:Hypocalciuric hypercalcemia, type II	OMIM2024Q4	GNA11
+139330_AD:Night blindness, congenital stationary, autosomal dominant 3##AR:Night blindness, congenital stationary, type 1G	OMIM2024Q4	GNAT1
+139360_.:Pituitary adenoma, ACTH-secreting, somatic##AD:Ventricular tachycardia, idiopathic	OMIM2024Q4	GNAI2
+140100_.:[Anhaptoglobinemia]##.:[Hypohaptoglobinemia]	OMIM2024Q4	HP
+141900_AD:Delta-beta thalassemia##AD:Erythrocytosis, familial, 6##AD:Heinz body anemia##AD:Hereditary persistence of fetal hemoglobin##AD:Methemoglobinemia, beta type##AR:Sickle cell disease##.:Thalassemia, beta##AD:Thalassemia-beta, dominant inclusion-body##.:{Malaria, resistance to}	OMIM2024Q4	HBB
+142704_AD:{Gilles de la Tourette syndrome, susceptibility to}	OMIM2024Q4	HDC
+142955_AR:Athabaskan brainstem dysgenesis syndrome##AR:Bosley-Salih-Alorainy syndrome	OMIM2024Q4	HOXA1
+142976_AR:Ectodermal dysplasia 9, hair/nail type	OMIM2024Q4	HOXC13
+142989_.:?Brachydactyly-syndactyly syndrome##AD:Brachydactyly, type D##AD:Brachydactyly, type E##AD:Syndactyly, type V##AD:Synpolydactyly 1	OMIM2024Q4	HOXD13
+600414_AR:Peroxisome biogenesis disorder 2A (Zellweger)##AR:Peroxisome biogenesis disorder 2B##AR:Rhizomelic chondrodysplasia punctata, type 5	OMIM2024Q4	PEX5
+600417_AR:Spastic paraplegia 45, autosomal recessive	OMIM2024Q4	NT5C2
+600467_AD:{Malignant hyperthermia susceptibility 4}	OMIM2024Q4	MHS4
+600514_AR:Lissencephaly 2 (Norman-Roberts type)##AD:{Epilepsy, familial temporal lobe, 7}	OMIM2024Q4	RELN
+600521_AR:3MC syndrome 1	OMIM2024Q4	MASP1
+600522_AR:Gastrointestinal ulceration, recurrent, with dysfunctional platelets	OMIM2024Q4	PLA2G4A
+600533_AD:Neural tube defects	OMIM2024Q4	VANGL2
+600536_AR:Muscular dystrophy, congenital, due to ITGA7 deficiency	OMIM2024Q4	ITGA7
+600571_AD:Deafness, autosomal dominant 27##AD:Fibromatosis, gingival, 5##AD:{Wilms tumor 6, susceptibility to}	OMIM2024Q4	REST
+600574_AD:Noonan syndrome 10##AR:Noonan syndrome 2##AD:{Schwannomatosis-2, susceptibility to}	OMIM2024Q4	LZTR1
+600660_AD:{Coronary artery disease, autosomal dominant, 1}	OMIM2024Q4	MEF2A
+600700_AD/SMu:Leukemia, acute myeloid##.:Lipoma	OMIM2024Q4	LPP
+600713_AD:Cortisone reductase deficiency 2	OMIM2024Q4	HSD11B1
+600722_AR:Ceroid lipofuscinosis, neuronal, 1	OMIM2024Q4	PPT1
+600761_AD:Bronchiectasis with or without elevated sweat chloride 3##AD:Liddle syndrome 2##AR:Pseudohypoaldosteronism, type IB3, autosomal recessive	OMIM2024Q4	SCNN1G
+600805_AR:Epidermolysis bullosa, junctional 2A, intermediate##AR:Epidermolysis bullosa, junctional 2B, severe##AR:Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous	OMIM2024Q4	LAMA3
+600819_AR:?Congenital myopathy 9A with respiratory insufficiency and bone fractures##AR:Congenital myopathy 9B, proximal, with minicore lesions	OMIM2024Q4	FXR1
+600839_AR:Bartter syndrome, type 1	OMIM2024Q4	SLC12A1
+600909_AR:Alopecia-intellectual disability syndrome 4##AR:Cataract 44##AR:Hypotrichosis 14	OMIM2024Q4	LSS
+600917_AD:Insulin resistance, severe, digenic	OMIM2024Q4	PPP1R3A
+600944_AR:Neurodevelopmental disorder with seizures and speech and walking impairment	OMIM2024Q4	DHPS
+600975_AR:Glaucoma 3, primary infantile, B	OMIM2024Q4	GLC3B
+600997_AR:?Bleeding disorder, platelet-type, 22##.:{Prostate cancer/brain cancer susceptibility, somatic}	OMIM2024Q4	EPHB2
+600998_.:Capillary malformations, congenital, 1, somatic, mosaic##.:Sturge-Weber syndrome, somatic, mosaic	OMIM2024Q4	GNAQ
+601035_AD:Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	OMIM2024Q4	HNRNPH1
+601093_AR:Enlarged vestibular aqueduct	OMIM2024Q4	FOXI1
+601097_?AD:?Neuropathy, inflammatory demyelinating##AD:Charcot-Marie-Tooth disease, type 1A##AD:Charcot-Marie-Tooth disease, type 1E##AD/AR:Dejerine-Sottas disease##AD:Neuropathy, recurrent, with pressure palsies##AD:Roussy-Levy syndrome	OMIM2024Q4	PMP22
+601103_AD:Aortic aneurysm, familial thoracic 9	OMIM2024Q4	MFAP5
+601107_AR:Dubin-Johnson syndrome	OMIM2024Q4	ABCC2
+601118_AR:?Congenital disorder of glycosylation, type IIz	OMIM2024Q4	CAMLG
+601146_AR:?Acromesomelic dysplasia 2C, Hunter-Thompson type##AR:Acromesomelic dysplasia 2A##AR:Acromesomelic dysplasia 2B##AD/AR:Brachydactyly, type A1, C##AD:Brachydactyly, type A2##AD:Brachydactyly, type C##AD:Multiple synostoses syndrome 2##AD:Symphalangism, proximal, 1B##.:{Osteoarthritis-5}	OMIM2024Q4	GDF5
+601176_.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	GCLM
+601194_.:{Leprosy, protection against}##.:{Leprosy, susceptibility to, 5}	OMIM2024Q4	TLR1
+601202_AD:Cataract 24, anterior polar	OMIM2024Q4	CTAA2
+601247_AD:Noonan syndrome 9	OMIM2024Q4	SOS2
+601267_AR:Polycystic lung disease##.:{HIV infection, susceptibility/resistance to}	OMIM2024Q4	CCR2
+601269_AR:Combined oxidative phosphorylation deficiency 33	OMIM2024Q4	C1QBP
+601300_.:Pancreatic cancer, somatic	OMIM2024Q4	ACVR1B
+601309_.:Basal cell carcinoma, somatic##AD:Basal cell nevus syndrome 1##AD:Holoprosencephaly 7	OMIM2024Q4	PTCH1
+601365_AD:Robinow syndrome, autosomal dominant 2	OMIM2024Q4	DVL1
+194363_AR:Short stature, microcephaly, and endocrine dysfunction	OMIM2024Q4	XRCC4
+217070_.:C7 deficiency	OMIM2024Q4	C7
+229000_AR:Fletcher factor (prekallikrein) deficiency	OMIM2024Q4	KLKB1
+232050_AR:Propionicacidemia	OMIM2024Q4	PCCB
+238330_AR:Multiple mitochondrial dysfunctions syndrome 7	OMIM2024Q4	GCSH
+601470_.:{Coronary artery disease, resistance to}##.:{Macular degeneration, age-related, 12}##.:{Rapid progression to AIDS from HIV1 infection}	OMIM2024Q4	CX3CR1
+601488_AR:Chronic granulomatous disease 3, autosomal recessive	OMIM2024Q4	NCF4
+601501_AD:{Parkinson disease 17}	OMIM2024Q4	VPS35
+601525_.:{Asthma-related traits, susceptibility to, 7}##AD:{Schizophrenia, susceptibility to}	OMIM2024Q4	CHI3L1
+601530_AD:Frontotemporal dementia and/or amyotrophic lateral sclerosis 3##AD:Myopathy, distal, with rimmed vacuoles##AR:Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset##AD:Paget disease of bone 3	OMIM2024Q4	SQSTM1
+601548_AR:Cutis laxa, autosomal recessive, type ID##AD:Doyne honeycomb degeneration of retina##AD:Glaucoma 1, open angle, H	OMIM2024Q4	EFEMP1
+601575_AD:Aplasia cutis-enamel dysplasia syndrome	OMIM2024Q4	FOSL2
+601627_AR:{Spinal muscular atrophy, type III, modifier of}	OMIM2024Q4	SMN2
+601683_AR:Coenzyme Q10 deficiency, primary, 8##AR:Neuronopathy, distal hereditary motor, autosomal recessive 9	OMIM2024Q4	COQ7
+601692_AD:Corneal dystrophy, Avellino type##AD:Corneal dystrophy, Groenouw type I##AD:Corneal dystrophy, Reis-Bucklers type##AD:Corneal dystrophy, Thiel-Behnke type##AD:Corneal dystrophy, epithelial basement membrane##AD:Corneal dystrophy, lattice type I##AD:Corneal dystrophy, lattice type IIIA	OMIM2024Q4	TGFBI
+601694_.:[Leptin serum levels QTL1]	OMIM2024Q4	LEPQTL1
+601746_AR:?Immunodeficiency 59 and hypoglycemia	OMIM2024Q4	HYOU1
+601757_AR:Peroxisome biogenesis disorder 9B##AR:Rhizomelic chondrodysplasia punctata, type 1	OMIM2024Q4	PEX7
+601861_AR:MHC class II deficiency 4	OMIM2024Q4	RFXAP
+601892_AD:Spastic paraplegia 88, autosomal dominant	OMIM2024Q4	KPNA3
+601896_AD:{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}	OMIM2024Q4	TRAF3
+601900_.:[Skin/hair/eye pigmentation, variation in, 8]	OMIM2024Q4	IRF4
+601924_AD:{Autoinflammation and autoimmunity, systemic, with immune dysregulation}	OMIM2024Q4	COPA
+601925_AR:Nephrotic syndrome, type 8	OMIM2024Q4	ARHGDIA
+601941_.:{Diabetes mellitus, insulin-dependent, 6}	OMIM2024Q4	IDDM6
+602017_AR:?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	OMIM2024Q4	PSMB1
+602050_AD:Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	OMIM2024Q4	RAC3
+602113_AD:Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome##AD:Kabuki syndrome 1	OMIM2024Q4	KMT2D
+602118_AD:Pilarowski-Bjornsson syndrome	OMIM2024Q4	CHD1
+602120_AD:Snijders Blok-Campeau syndrome	OMIM2024Q4	CHD3
+602135_AR:Spermatogenic failure 83	OMIM2024Q4	DNALI1
+602177_AR:?Proteasome-associated autoinflammatory syndrome 3 and digenic forms	OMIM2024Q4	PSMB4
+602192_AD:Reticulate acropigmentation of Kitamura##.:{Alzheimer disease 18, susceptibility to}	OMIM2024Q4	ADAM10
+602212_AD:Buratti-Harel syndrome	OMIM2024Q4	SIAH1
+602218_AD:Townes-Brocks branchiootorenal-like syndrome##AD:Townes-Brocks syndrome 1	OMIM2024Q4	SALL1
+602219_AR:?Coloboma, ocular, autosomal recessive	OMIM2024Q4	SALL2
+602228_AD:{Diabetes mellitus, type 2, susceptibility to}	OMIM2024Q4	TCF7L2
+602245_AR:Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	OMIM2024Q4	GTPBP1
+602311_AD/AR/Mu:{Leanness, inherited}##AD/AR/Mu:{Obesity, late-onset}	OMIM2024Q4	AGRP
+602334_AR:Nephrotic syndrome, type 10	OMIM2024Q4	EMP2
+602354_AR:Immunodeficiency 52	OMIM2024Q4	LAT
+300111_XLD:{Leber hereditary optic neuropathy, modifier of}	OMIM2024Q4	PRICKLE3
+300127_XLR:Intellectual developmental disorder, X-linked syndromic, Billuart type	OMIM2024Q4	OPHN1
+300135_XL:Anemia, sideroblastic, with ataxia	OMIM2024Q4	ABCB7
+300204_XLR:?Intellectual developmental disorder, X-linked 101	OMIM2024Q4	MID2
+300272_XLD:?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	OMIM2024Q4	HDAC6
+300292_XLR:Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	OMIM2024Q4	FOXP3
+300345_.:Microphthalmia with coloboma 1	OMIM2024Q4	MCOPCB1
+300366_SMo/XL:Immunodeficiency 98 with autoinflammation, X-linked	OMIM2024Q4	TLR8
+300374_XLR:?Immunodeficiency 61	OMIM2024Q4	SH3KBP1
+300401_XLR:Pelizaeus-Merzbacher disease##XLR:Spastic paraplegia 2, X-linked	OMIM2024Q4	PLP1
+300414_XLR:Borjeson-Forssman-Lehmann syndrome	OMIM2024Q4	PHF6
+300461_XL:Ornithine transcarbamylase deficiency	OMIM2024Q4	OTC
+300515_XLR:Fanconi anemia, complementation group B	OMIM2024Q4	FANCB
+300516_XLR:?Hemolytic anemia, congenital, X-linked	OMIM2024Q4	ATP11C
+300535_XLR:Dent disease 2##XLR:Lowe syndrome	OMIM2024Q4	OCRL
+300553_XLR:Intellectual developmental disorder, X-linked 93	OMIM2024Q4	BRWD3
+300556_XLR:?Parkinsonism with spasticity, X-linked##XLR:Congenital disorder of glycosylation, type IIr##XLR:Intellectual developmental disorder, X-linked syndromic, Hedera type	OMIM2024Q4	ATP6AP2
+300557_.:{Parkinson disease 12}	OMIM2024Q4	PARK12
+300603_XLR:?Premature ovarian failure 2B	OMIM2024Q4	POF1B
+300644_XL:Fabry disease##XL:Fabry disease, cardiac variant	OMIM2024Q4	GLA
+300650_XL:Ocular albinism with sensorineural deafness	OMIM2024Q4	OASD
+300658_XLD/XLR:Exudative vitreoretinopathy 2, X-linked##XLR:Norrie disease	OMIM2024Q4	NDP
+300713_XLR:Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	OMIM2024Q4	OTUD5
+300757_XL:Retinitis pigmentosa 2	OMIM2024Q4	RP2
+300768_XL:{Spermatogenic failure, X-linked, 8, susceptibility to}	OMIM2024Q4	CYLC1
+300779_XLD:Corneal dystrophy, endothelial, X-linked	OMIM2024Q4	XECD
+300851_XLR:Intellectual developmental disorder, X-linked 92	OMIM2024Q4	MRX92
+300907_XLR:?Intellectual developmental disorder, X-linked 113	OMIM2024Q4	CSTF2
+300913_XLR:Myopathy, X-linked, with excessive autophagy	OMIM2024Q4	VMA21
+301002_XL:Intellectual developmental disorder, X-linked 114	OMIM2024Q4	SRPK3
+146690_AD:Leber congenital amaurosis 11##AD:Retinitis pigmentosa 10	OMIM2024Q4	IMPDH1
+146691_.:[IMPDH2 enzyme activity, variation in]	OMIM2024Q4	IMPDH2
+147141_AD:Agammaglobulinemia 8A, autosomal dominant##AR:Agammaglobulinemia 8B, autosomal recessive	OMIM2024Q4	TCF3
+147280_.:Hepatocellular carcinoma, somatic	OMIM2024Q4	IGF2R
+147450_AD/AR:Amyotrophic lateral sclerosis 1##AR:Spastic tetraplegia and axial hypotonia, progressive	OMIM2024Q4	SOD1
+147556_AR:Epidermolysis bullosa, junctional 6, with pyloric atresia	OMIM2024Q4	ITGA6
+147571_AR:Immunodeficiency 38	OMIM2024Q4	ISG15
+147679_AR:Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis##AR:Interleukin 1 receptor antagonist deficiency##.:{Gastric cancer risk after H. pylori infection}##.:{Microvascular complications of diabetes 4}	OMIM2024Q4	IL1RN
+147700_.:{Glioma, susceptibility to, somatic}	OMIM2024Q4	IDH1
+147796_.:Erythrocytosis, somatic##.:Leukemia, acute myeloid, somatic##.:Myelofibrosis, somatic##.:Polycythemia vera, somatic##AD/SMu:Thrombocythemia 3##.:{Budd-Chiari syndrome, somatic}	OMIM2024Q4	JAK2
+148080_AD:?Ichthyosis histrix, Lambert type##AD:Epidermolytic hyperkeratosis 2A, autosomal dominant##AR:Epidermolytic hyperkeratosis 2B, autosomal recessive##AD:Ichthyosis with confetti##AD:Ichthyosis, annular epidermolytic 1	OMIM2024Q4	KRT10
+149000_IC:Klippel-Trenaunay-Weber syndrome	OMIM2024Q4	KTWS
+150000_AR:Glycogen storage disease XI	OMIM2024Q4	LDHA
+150240_AR:Lissencephaly 5	OMIM2024Q4	LAMB1
+150341_AR:?Epilepsy, progressive myoclonic, 9##AD:Microcephaly 27, primary, autosomal dominant##AD:{Lipodystrophy, partial, acquired, susceptibility to}	OMIM2024Q4	LMNB2
+152790_.:Leydig cell adenoma, somatic, with precocious puberty##AR:Leydig cell hypoplasia with hypergonadotropic hypogonadism##AR:Leydig cell hypoplasia with pseudohermaphroditism##AR:Luteinizing hormone resistance, female##AD:Precocious puberty, male	OMIM2024Q4	LHCGR
+154050_AD:Cataract 15, multiple types	OMIM2024Q4	MIP
+157147_AR:Abetalipoproteinemia	OMIM2024Q4	MTTP
+157300_AD:{Migraine with or without aura, susceptibility to, 1}##AD:{Migraine, resistance to}##AD:{Migraine without aura, susceptibility to}##AD:{Migraine, susceptibility to}	OMIM2024Q4	MGR1
+157900_AD/IC:?Moebius syndrome	OMIM2024Q4	MBS1
+158378_AD:Basal ganglia calcification, idiopathic, 1	OMIM2024Q4	SLC20A2
+159530_AR:Amegakaryocytic thrombocytopenia, congenital, 1##.:Myelofibrosis with myeloid metaplasia, somatic##AD/SMu:Thrombocythemia 2	OMIM2024Q4	MPL
+161015_AR:Mitochondrial complex I deficiency, nuclear type 4	OMIM2024Q4	NDUFV1
+163890_AD:Dementia, Lewy body##AD:Parkinson disease 1##AD:Parkinson disease 4	OMIM2024Q4	SNCA
+164011_AD:Immunodeficiency, common variable, 12	OMIM2024Q4	NFKB1
+164014_AD:Autoinflammatory disease, familial, Behcet-like-3	OMIM2024Q4	RELA
+164360_AR:?Combined oxidative phosphorylation deficiency 22##AR:?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type##AD:Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	OMIM2024Q4	ATP5F1A
+602409_AD/SMu:Leukemia, acute myeloid	OMIM2024Q4	MLLT10
+602447_.:{Coronary artery disease, susceptibility to}	OMIM2024Q4	PON2
+602458_AD:[Low density lipoprotein cholesterol level QTL6]	OMIM2024Q4	SORT1
+602466_AD:{?IgA nephropathy, susceptibility to, 3}	OMIM2024Q4	SPRY2
+602490_AD:?Congenital anomalies of kidney and urinary tract 3	OMIM2024Q4	NRIP1
+602536_AR:Martsolf syndrome 2##AR:Warburg micro syndrome 1	OMIM2024Q4	RAB3GAP1
+602572_AD:Amyotrophic lateral sclerosis 23##AD:Inclusion body myopathy and brain white matter abnormalities	OMIM2024Q4	ANXA11
+602589_AR:Congenital disorder of glycosylation with defective fucosylation 1	OMIM2024Q4	FUT8
+602593_AD:Hypotrichosis 2##AR:Peeling skin syndrome 1	OMIM2024Q4	CDSN
+602594_.:Retinitis pigmentosa 22	OMIM2024Q4	RP22
+602617_AR:Bamforth-Lazarus syndrome##AD:{Thyroid cancer, nonmedullary, 4}	OMIM2024Q4	FOXE1
+602631_.:Breast cancer, somatic##.:Lung cancer, somatic##.:Rhabdomyosarcoma, somatic	OMIM2024Q4	SLC22A18
+602635_AR:Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures##AD:Vulto-van Silfout-de Vries syndrome	OMIM2024Q4	DEAF1
+602643_AR:Paget disease of bone 5, juvenile-onset	OMIM2024Q4	TNFRSF11B
+602660_AD:Leber congenital amaurosis with early-onset deafness	OMIM2024Q4	TUBB4B
+602662_AD:Dystonia 4, torsion, autosomal dominant##AD:Leukodystrophy, hypomyelinating, 6	OMIM2024Q4	TUBB4A
+602704_AD:?Bone marrow failure syndrome 6	OMIM2024Q4	MDM4
+602765_AR:Erythrokeratodermia variabilis et progressiva 5##AD:Monilethrix	OMIM2024Q4	KRT83
+602768_AR:Spondylocostal dysostosis 1, autosomal recessive	OMIM2024Q4	DLL3
+602827_AD:Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1	OMIM2024Q4	H4C3
+602900_DD:Facioscapulohumeral muscular dystrophy 4, digenic##AR:Immunodeficiency-centromeric instability-facial anomalies syndrome 1	OMIM2024Q4	DNMT3B
+602974_AR:[Glycerol quantitative trait locus]	OMIM2024Q4	AQP7
+603005_AR:Brachyolmia 4 with mild epiphyseal and metaphyseal changes	OMIM2024Q4	PAPSS2
+603013_.:{?Schizophrenia, susceptibility to}##AD:{Schizophrenia}	OMIM2024Q4	SCZD6
+603051_AR:Rhizomelic chondrodysplasia punctata, type 3	OMIM2024Q4	AGPS
+603150_AR:Mitochondrial complex V (ATP synthase) deficiency	OMIM2024Q4	ATP5F1D
+603158_.:Pituitary adenoma 4, ACTH-secreting, somatic	OMIM2024Q4	USP8
+603198_AR:Lipodystrophy, congenital generalized, type 4	OMIM2024Q4	CAVIN1
+603243_AR:Spastic paraplegia 89, autosomal recessive	OMIM2024Q4	AMFR
+603258_AD:Immunodeficiency 15A##AR:Immunodeficiency 15B	OMIM2024Q4	IKBKB
+603276_Mu:[Blood pressure regulation QTL]	OMIM2024Q4	RGS5
+603277_AD:Sifrim-Hitz-Weiss syndrome	OMIM2024Q4	CHD4
+603283_AR:Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	OMIM2024Q4	TRDN
+603307_AD/AR:Cataract 33, multiple types	OMIM2024Q4	BFSP1
+603324_AD:Deafness, autosomal dominant 2B, with or without peripheral neuropathy##AR/DD:Deafness, digenic, GJB2/GJB3##AD/AR:Erythrokeratodermia variabilis et progressiva 1	OMIM2024Q4	GJB3
+301113_XL:?Lui-Jee-Baron syndrome	OMIM2024Q4	SPIN4
+305915_XLR:Intellectual developmental disorder, X-linked syndromic, Wu type	OMIM2024Q4	GRIA3
+305990_XL:Intellectual developmental disorder, X-linked syndromic, Pilorge type	OMIM2024Q4	GLRA2
+313650_XLR:Dystonia-Parkinsonism, X-linked##XLR:Intellectual developmental disorder, X-linked syndromic 33	OMIM2024Q4	TAF1
+400033_YL:?Deafness, Y-linked 2	OMIM2024Q4	TBL1Y
+600014_AD:Blepharophimosis-impaired intellectual development syndrome##AD:Nicolaides-Baraitser syndrome	OMIM2024Q4	SMARCA2
+600028_AR:?Split-hand/foot malformation 1 with sensorineural hearing loss##AD:Split-hand/foot malformation 1	OMIM2024Q4	DLX5
+600044_AR:Amegakaryocytic thrombocytopenia, congenital, 2##AD:Thrombocythemia 1##AD:Thrombocytopenia 9	OMIM2024Q4	THPO
+600087_AR:Woolly hair-skin fragility syndrome	OMIM2024Q4	TUFT1
+600104_AD:Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant##AR:Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	OMIM2024Q4	SYT2
+600112_AD:Charcot-Marie-Tooth disease, axonal, type 2O##AD:Cortical dysplasia, complex, with other brain malformations 13##AD:Spinal muscular atrophy, lower extremity-predominant 1, AD	OMIM2024Q4	DYNC1H1
+600129_AD:Acrodysostosis 2, with or without hormone resistance	OMIM2024Q4	PDE4D
+600133_AD:Cardiomyopathy, dilated, 1JJ	OMIM2024Q4	LAMA4
+600173_AR:Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type	OMIM2024Q4	JAK3
+600192_.:Sarcoma, synovial	OMIM2024Q4	SS18
+600230_AR:Spondylometaphyseal dysplasia with corneal dystrophy	OMIM2024Q4	PLCB3
+600266_.:{Buruli ulcer, susceptibility to}##.:{Mycobacterium tuberculosis, susceptibility to infection by}	OMIM2024Q4	SLC11A1
+600300_AD:Developmental and epileptic encephalopathy 41	OMIM2024Q4	SLC1A2
+600315_AR:?Immunodeficiency 16	OMIM2024Q4	TNFRSF4
+600317_AD:Bleeding disorder, platelet-type, 25	OMIM2024Q4	TPM4
+600361_AD:Hereditary motor and sensory neuropathy V	OMIM2024Q4	HMSN5
+164870_AR:?Visceral neuropathy, familial, 2, autosomal recessive##.:Adenocarcinoma of lung, somatic##.:Gastric cancer, somatic##.:Glioblastoma, somatic##.:Ovarian cancer, somatic	OMIM2024Q4	ERBB2
+164975_AD:Robinow syndrome, autosomal dominant 1	OMIM2024Q4	WNT5A
+165170_AD:Agammaglobulinemia 10, autosomal dominant	OMIM2024Q4	SPI1
+166800_AD:Otosclerosis 1	OMIM2024Q4	OTSC1
+168820_.:{Coronary artery disease, susceptibility to}##.:{Coronary artery spasm 2, susceptibility to}##.:{Microvascular complications of diabetes 5}##.:{Organophosphate poisoning, sensitivity to}	OMIM2024Q4	PON1
+170285_AR:Nephrotic syndrome, type 17	OMIM2024Q4	NUP85
+170995_AR:?Bile acid synthesis defect, congenital, 5	OMIM2024Q4	ABCD3
+176267_AD:Atrial fibrillation, familial, 7	OMIM2024Q4	KCNA5
+176804_AR:{Asthma, aspirin-induced, susceptibility to}	OMIM2024Q4	PTGER2
+176880_AD:Thrombophilia 5 due to protein S deficiency, autosomal dominant##AR:Thrombophilia 5 due to protein S deficiency, autosomal recessive	OMIM2024Q4	PROS1
+176930_AR:Dysprothrombinemia##AR:Hypoprothrombinemia##AD:Thrombophilia 1 due to thrombin defect##AD:{Pregnancy loss, recurrent, susceptibility to, 2}##Mu:{Stroke, ischemic, susceptibility to}	OMIM2024Q4	F2
+180072_AD:Night blindness, congenital stationary, autosomal dominant 2##AR:Retinitis pigmentosa-40	OMIM2024Q4	PDE6B
+180073_AR:Retinitis pigmentosa 57	OMIM2024Q4	PDE6G
+180220_AD/AR:Microphthalmia, syndromic 12	OMIM2024Q4	RARB
+180240_.:Leukemia, acute promyelocytic	OMIM2024Q4	RARA
+180472_AD:Diamond-Blackfan anemia 4	OMIM2024Q4	RPS17
+182100_AR:[Bombay phenotype, digenic]##.:{Norwalk virus infection, resistance to}##.:{Vitamin B12 plasma level QTL1}	OMIM2024Q4	FUT2
+182138_.:{Anxiety-related personality traits}##AD:{Obsessive-compulsive disorder}	OMIM2024Q4	SLC6A4
+182307_AR:Diarrhea 8, secretory sodium, congenital	OMIM2024Q4	SLC9A3
+182310_AD:Charcot-Marie-Tooth disease, axonal, type 2DD##AD:Hypomagnesemia, seizures, and impaired intellectual development 2	OMIM2024Q4	ATP1A1
+182350_AD:Alternating hemiplegia of childhood 2##AD:CAPOS syndrome##AD:Developmental and epileptic encephalopathy 99##AD:Dystonia-12	OMIM2024Q4	ATP1A3
+182465_AD:ZTTK syndrome	OMIM2024Q4	SON
+182790_AD:Developmental delay, impaired speech, and behavioral abnormalities	OMIM2024Q4	SPTBN1
+184420_AR:Squalene synthase deficiency	OMIM2024Q4	FDFT1
+603381_AD:Atelosteogenesis, type I##AD:Atelosteogenesis, type III##AD:Boomerang dysplasia##AD:Larsen syndrome##AR:Spondylocarpotarsal synostosis syndrome	OMIM2024Q4	FLNB
+603390_.:Pigmented nodular adrenocortical disease, primary, 3##AD:Striatal degeneration, autosomal dominant	OMIM2024Q4	PDE8B
+603456_AR:Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	OMIM2024Q4	DPH2
+603503_AR:Congenital disorder of glycosylation, type Ie	OMIM2024Q4	DPM1
+603594_.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	TNFSF4
+603618_AR:Oocyte/zygote/embryo maturation arrest 14	OMIM2024Q4	CDC20
+603647_AR:Bjornstad syndrome##AR:GRACILE syndrome##AR:Mitochondrial complex III deficiency, nuclear type 1	OMIM2024Q4	BCS1L
+603658_AD:Diamond-Blackfan anemia 8	OMIM2024Q4	RPS7
+603687_AR:Diaphragmatic hernia 4, with cardiovascular defects	OMIM2024Q4	ALDH1A2
+603704_AD:?Diamond-Blackfan anemia 11	OMIM2024Q4	RPL26
+603725_AD:Hypogonadotropic hypogonadism 20 with or without anosmia	OMIM2024Q4	FGF17
+603816_.:?Caudal duplication anomaly##AR:Craniometadiaphyseal osteosclerosis with hip dysplasia##.:Hepatocellular carcinoma, somatic	OMIM2024Q4	AXIN1
+603834_AR:Mitochondrial complex I deficiency, nuclear type 26	OMIM2024Q4	NDUFA9
+603835_AR:Mitochondrial complex I deficiency, nuclear type 22	OMIM2024Q4	NDUFA10
+603848_AR:Mitochondrial complex I deficiency, nuclear type 9	OMIM2024Q4	NDUFS6
+603851_AD:Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease##.:Neuroblastoma with Hirschsprung disease##.:{Neuroblastoma, susceptibility to, 2}	OMIM2024Q4	PHOX2B
+603855_.:{Meconium ileus in cystic fibrosis, susceptibility to}	OMIM2024Q4	CFM1
+603861_AR:Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	OMIM2024Q4	SLC25A15
+603892_AD:Mandibulofacial dysostosis, Guion-Almeida type	OMIM2024Q4	EFTUD2
+603942_AR:?Glycogen storage disease XV##AR:Polyglucosan body myopathy 2	OMIM2024Q4	GYG1
+603946_AR:Immunodeficiency-centromeric instability-facial anomalies syndrome 4	OMIM2024Q4	HELLS
+603962_AR:Immunodeficiency 64	OMIM2024Q4	RASGRP1
+604041_AR:Congenital disorder of glycosylation, type If	OMIM2024Q4	MPDU1
+604065_AD:Spinocerebellar ataxia 42##AD:Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	OMIM2024Q4	CACNA1G
+604090_AR:Yuksel-Vogel-Bauser syndrome	OMIM2024Q4	DLG5
+604105_AD:Spermatogenic failure 1	OMIM2024Q4	SYCP2
+604159_AD/AR:Hyperekplexia 3	OMIM2024Q4	SLC6A5
+604210_AR:Leber congenital amaurosis 8##AD:Pigmented paravenous chorioretinal atrophy##AR:Retinitis pigmentosa-12	OMIM2024Q4	CRB1
+604223_AR:Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia	OMIM2024Q4	ARPC1B
+604255_AR:?Central hypoventilation syndrome, congenital, 3	OMIM2024Q4	LBX1
+604289_.:Colon cancer, somatic##.:Lymphoma, non-Hodgkin, somatic	OMIM2024Q4	RAD54B
+604297_AR:Developmental and epileptic encephalopathy 53##AR:Parkinson disease 20, early-onset	OMIM2024Q4	SYNJ1
+604305_AR/Mu:{Celiac disease, susceptibility to}##AD:{Creutzfeldt-Jakob disease, variant, resistance to}##Mu:{Multiple sclerosis, susceptibility to, 1}	OMIM2024Q4	HLA-DQB1
+604325_AD:Spinocerebellar ataxia 12	OMIM2024Q4	PPP2R2B
+604384_AD:Hailey-Hailey disease	OMIM2024Q4	ATP2C1
+604436_AR:Epilepsy, early-onset, 1, vitamin B6-dependent	OMIM2024Q4	PLPBP
+604439_AR:?Deafness, autosomal recessive 26	OMIM2024Q4	GAB1
+604450_AD:Stankiewicz-Isidor syndrome	OMIM2024Q4	PSMD12
+604455_AR:[Sarcosinemia]	OMIM2024Q4	SARDH
+604457_AR:Hepatic venoocclusive disease with immunodeficiency##.:{Mycobacterium tuberculosis, susceptibility to}	OMIM2024Q4	SP110
+246530_AR:Leukotriene C4 synthase deficiency	OMIM2024Q4	LTC4S
+264900_.:Factor XI deficiency, autosomal dominant##.:Factor XI deficiency, autosomal recessive	OMIM2024Q4	F11
+300062_XL:Intellectual developmental disorder, X-linked 14	OMIM2024Q4	MRX14
+300070_XLD/XLR:Developmental and epileptic encephalopathy 90##XLR:Intellectual developmental disorder, X-linked 110	OMIM2024Q4	FGF13
+300072_XLR:Intellectual developmental disorder, X-linked 99##XLD:Intellectual developmental disorder, X-linked 99, syndromic, female-restricted	OMIM2024Q4	USP9X
+300084_XL:Intellectual developmental disorder, X-linked syndromic 34	OMIM2024Q4	NONO
+300126_XLD:?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1##XLR:Dyskeratosis congenita, X-linked	OMIM2024Q4	DKC1
+300147_.:{Prostate cancer, hereditary, X-linked 1}	OMIM2024Q4	HPCX
+300160_XLD/XLR:Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	OMIM2024Q4	DDX3X
+300179_.:X inactivation, familial skewed, 2	OMIM2024Q4	SXI2
+300192_.:?Sarcoma, synovial	OMIM2024Q4	SSX2
+300221_.:{Hodgkin disease susceptibility, pseudoautosomal}	OMIM2024Q4	HDPA
+300228_.:Testicular germ cell tumor	OMIM2024Q4	TGCT1
+600415_AR:Ataxia with isolated vitamin E deficiency	OMIM2024Q4	TTPA
+600478_AR:Trichohepatoenteric syndrome 2	OMIM2024Q4	SKIC2
+600492_AD:Immunodeficiency, developmental delay, and hypohomocysteinemia	OMIM2024Q4	NFE2L2
+600556_AR:Immunodeficiency 44##AR:Pseudo-TORCH syndrome 3	OMIM2024Q4	STAT2
+600558_AD:Disabling pansclerotic morphea of childhood##.:{Systemic lupus erythematosus, susceptibility to, 11}	OMIM2024Q4	STAT4
+600599_AR:Anemia, congenital dyserythropoietic, type IVb##AD:Anemia, dyserythropoietic congenital, type IVa##AD:Blood group--Lutheran inhibitor##AD:[Hereditary persistence of fetal hemoglobin]	OMIM2024Q4	KLF1
+600618_.:Leukemia, acute myeloid, somatic##AD:Thrombocytopenia 5	OMIM2024Q4	ETV6
+600668_AD:Chondrocalcinosis with early-onset osteoarthritis	OMIM2024Q4	CCAL1
+600673_AD:Neurodegeneration, childhood-onset, with brain atrophy	OMIM2024Q4	UBTF
+600681_AD:Andersen syndrome##AD:Atrial fibrillation, familial, 9##AD:Short QT syndrome 3	OMIM2024Q4	KCNJ2
+600687_AR:Neurodevelopmental disorder with language delay and seizures	OMIM2024Q4	TIAM1
+600702_AD:?Myoclonus, familial, 2##AD:Cognitive impairment with or without cerebellar ataxia##AD:Developmental and epileptic encephalopathy 13##AD:Seizures, benign familial infantile, 5	OMIM2024Q4	SCN8A
+600734_AD:Hyperaldosteronism, familial, type III##AD:Long QT syndrome 13	OMIM2024Q4	KCNJ5
+600747_AD:Vertebral anomalies and variable endocrine and T-cell dysfunction	OMIM2024Q4	TBX2
+600754_AR:Winchester syndrome	OMIM2024Q4	MMP14
+600783_AR:Perrault syndrome 2	OMIM2024Q4	HARS2
+600792_AR:Deafness, autosomal recessive 5	OMIM2024Q4	DFNB5
+600799_AD:Pulmonary hypertension, familial primary, 1, with or without HHT##AD:Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated##AD:Pulmonary venoocclusive disease 1	OMIM2024Q4	BMPR2
+600812_AD:Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	OMIM2024Q4	SRSF1
+600824_.:?Cardiomyopathy, dilated, 1M##AD:Cardiomyopathy, hypertrophic, 12	OMIM2024Q4	CSRP3
+600836_AD:?Cataract 42	OMIM2024Q4	CRYBA2
+600859_AR:Leukodystrophy, hypomyelinating, 17	OMIM2024Q4	AIMP2
+600871_AD:?Neutropenia, nonimmune chronic idiopathic, of adults##AD:Neutropenia, severe congenital 2, autosomal dominant	OMIM2024Q4	GFI1
+600876_AR:Diarrhea 12, with microvillus atrophy##AR:Retinal dystrophy and microvillus inclusion disease	OMIM2024Q4	STX3
+600928_AD:Epilepsy, familial focal, with variable foci 3	OMIM2024Q4	NPRL3
+600957_AR:Persistent Mullerian duct syndrome, type I	OMIM2024Q4	AMH
+600963_.:Branchiootorenal syndrome 2	OMIM2024Q4	SIX5
+600980_AR:Hypophosphatemic rickets, AR	OMIM2024Q4	DMP1
+601012_AR:Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	OMIM2024Q4	CACNA1B
+601024_AD:Intellectual developmental disorder 60 with seizures	OMIM2024Q4	AP2M1
+601040_.:[High density lipoprotein cholesterol level QTL6]	OMIM2024Q4	SCARB1
+601065_AD:?Leukoencephalopathy, hereditary diffuse, with spheroids 2##AD:Charcot-Marie-Tooth disease, axonal, type 2N##AR:Developmental and epileptic encephalopathy 29##AR:Trichothiodystrophy 8, nonphotosensitive	OMIM2024Q4	AARS1
+601102_AD/AR:Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	OMIM2024Q4	EIF4A2
+601147_AD:Klippel-Feil syndrome 1, autosomal dominant##AR:Leber congenital amaurosis 17##AD:Microphthalmia with coloboma 6, digenic##.:Microphthalmia, isolated 4##AD:Multiple synostoses syndrome 4	OMIM2024Q4	GDF6
+601215_AD:?Cutaneous telangiectasia and cancer syndrome, familial##AR:Seckel syndrome 1	OMIM2024Q4	ATR
+601243_AR:Microcephaly, growth restriction, and increased sister chromatid exchange 2##AR:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	OMIM2024Q4	TOP3A
+601259_AR:Amelogenesis imperfecta, type IF	OMIM2024Q4	AMBN
+601296_AR:Fetal akinesia deformation sequence 1##AR:Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	OMIM2024Q4	MUSK
+601299_.:Polyposis syndrome, hereditary mixed, 2##AD:Polyposis, juvenile intestinal	OMIM2024Q4	BMPR1A
+601313_AD:Polycystic kidney disease 1	OMIM2024Q4	PKD1
+601326_AD:Leukodystrophy, hypomyelinating, 22	OMIM2024Q4	CLDN11
+604491_AR:Autoimmune disease, multisystem, infantile-onset, 3	OMIM2024Q4	CBLB
+604505_AR:Achondrogenesis, type IA##AR:Odontochondrodysplasia 1	OMIM2024Q4	TRIP11
+604521_AR:Vertebral, cardiac, renal, and limb defects syndrome 1	OMIM2024Q4	HAAO
+604557_AD/AR:Joubert syndrome 19##AD/AR:Nephronophthisis 14	OMIM2024Q4	ZNF423
+604558_AR:Immunodeficiency, common variable, 1	OMIM2024Q4	ICOS
+604595_.:[Cholesterol level QTL 1]	OMIM2024Q4	CLQTL1
+604597_AR:Fraser syndrome 3	OMIM2024Q4	GRIP1
+604630_AD/AR/Mu:Obesity, mild, early-onset	OMIM2024Q4	NR0B2
+604649_AR:Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	OMIM2024Q4	TBCD
+604655_AR:Immunodeficiency 112	OMIM2024Q4	MAP3K14
+604672_.:{Dengue fever, protection against}##.:{HIV type 1, susceptibility to}##.:{Mycobacterium tuberculosis, susceptibility to}	OMIM2024Q4	CD209
+604677_AD:Intellectual developmental disorder, autosomal dominant 34	OMIM2024Q4	CERT1
+604685_AD/AR:?Microtia, hearing impairment, and cleft palate (AR)##AD/AR:Microtia with or without hearing impairment (AD)	OMIM2024Q4	HOXA2
+604705_AR:Retinitis pigmentosa 38	OMIM2024Q4	MERTK
+604730_AR:Hepatorenocardiac degenerative fibrosis	OMIM2024Q4	TULP3
+604741_AR:Bile acid synthesis defect, congenital, 2	OMIM2024Q4	AKR1D1
+604799_AD:?Deafness, autosomal dominant 68	OMIM2024Q4	HOMER2
+604819_AD:Verheij syndrome	OMIM2024Q4	PUF60
+604834_AR:Autoinflammation with arthritis and vasculitis##AD:Frontotemporal dementia and/or amyotrophic lateral sclerosis 4##AD:{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}	OMIM2024Q4	TBK1
+604862_.:[?Birbeck granule deficiency]	OMIM2024Q4	CD207
+604863_AR:Leber congenital amaurosis 14##AR:Retinal dystrophy, early-onset severe##AR:Retinitis pigmentosa, juvenile	OMIM2024Q4	LRAT
+604896_AR:Bardet-Biedl syndrome 6##AR:McKusick-Kaufman syndrome	OMIM2024Q4	MKKS
+604961_AD:Pigmented nodular adrenocortical disease, primary, 2	OMIM2024Q4	PDE11A
+604981_AR:Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities	OMIM2024Q4	WBP4
+605014_AR:Hemophagocytic lymphohistiocytosis, familial, 4	OMIM2024Q4	STX11
+605195_AR:Spondylocostal dysostosis 2, autosomal recessive	OMIM2024Q4	MESP2
+605197_AR:?Hydroxykynureninuria##AR:Vertebral, cardiac, renal, and limb defects syndrome 2	OMIM2024Q4	KYNU
+605206_.:Brugada syndrome 8##AD:Sick sinus syndrome 2##AD:{Epilepsy, idiopathic generalized, susceptibility to, 18}	OMIM2024Q4	HCN4
+605247_AR:Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	OMIM2024Q4	PIDD1
+605248_AD:Lisch epithelial corneal dystrophy##AR:Mucolipidosis IV	OMIM2024Q4	MCOLN1
+605314_AD:Neurodevelopmental disorder with central hypotonia and dysmorphic facies	OMIM2024Q4	HDAC4
+605353_AD/AR/Mu:{Obesity, susceptibility to}	OMIM2024Q4	GHRL
+605371_AR:Periventricular heterotopia with microcephaly	OMIM2024Q4	ARFGEF2
+605392_.:Myeloproliferative disorder	OMIM2024Q4	CEP43
+605414_AD:{Alzheimer disease 9, susceptibility to}	OMIM2024Q4	ABCA7
+605441_AD:Adiponectin deficiency	OMIM2024Q4	ADIPOQ
+605456_AR:Muscular dystrophy, congenital, with rapid progression	OMIM2024Q4	BET1
+605459_AR:Sitosterolemia 2	OMIM2024Q4	ABCG5
+186711_AR:Lymphoproliferative syndrome 2	OMIM2024Q4	CD27
+186852_AR:?Deafness, cataract, impaired intellectual development, and polyneuropathy	OMIM2024Q4	PSMC3
+186921_.:Leukemia, T-cell acute lymphoblastic	OMIM2024Q4	LMO1
+186940_AR:Immunodeficiency 79##.:OKT4 epitope deficiency	OMIM2024Q4	CD4
+187680_AR:{Thiopurines, poor metabolism of, 1}	OMIM2024Q4	TPMT
+188350_DD:Dyskeratosis congenita, digenic	OMIM2024Q4	TYMS
+188830_AD:Acrodysostosis 1, with or without hormone resistance##.:Adrenocortical tumor, somatic##AD:Carney complex, type 1##AD:Myxoma, intracardiac##AD:Pigmented nodular adrenocortical disease, primary, 1	OMIM2024Q4	PRKAR1A
+189964_AR:Trichothiodystrophy 6, nonphotosensitive	OMIM2024Q4	GTF2E2
+190040_AD:Basal ganglia calcification, idiopathic, 5##.:Dermatofibrosarcoma protuberans##AD:Meningioma, SIS-related	OMIM2024Q4	PDGFB
+190070_.:Arteriovenous malformation of the brain, somatic##.:Bladder cancer, somatic##.:Breast cancer, somatic##AD:Cardiofaciocutaneous syndrome 2##.:Gastric cancer, somatic##.:Leukemia, acute myeloid, somatic##.:Lung cancer, somatic##AD:Noonan syndrome 3##.:Oculoectodermal syndrome, somatic##.:Pancreatic carcinoma, somatic##AD:RAS-associated autoimmune leukoproliferative disorder##.:Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	OMIM2024Q4	KRAS
+190100_AD:Geniospasm	OMIM2024Q4	GSM1
+190160_AD:Thyroid hormone resistance##AR:Thyroid hormone resistance, autosomal recessive##AD:Thyroid hormone resistance, selective pituitary	OMIM2024Q4	THRB
+190182_.:Colorectal cancer, hereditary nonpolyposis, type 6##.:Esophageal cancer, somatic##AD:Loeys-Dietz syndrome 2	OMIM2024Q4	TGFBR2
+190195_AR:Ichthyosis, congenital, autosomal recessive 1	OMIM2024Q4	TGM1
+191039_AD:Congenital myopathy 15	OMIM2024Q4	TNNC2
+191135_AD:Cortical dysplasia, complex, with other brain malformations 4	OMIM2024Q4	TUBG1
+191160_AR:?Immunodeficiency 127##AD:{Asthma, susceptibility to}##.:{Dementia, vascular, susceptibility to}##.:{Malaria, cerebral, susceptibility to}##AD:{Migraine without aura, susceptibility to}##.:{Septic shock, susceptibility to}	OMIM2024Q4	TNF
+191329_AR:Mitochondrial complex III deficiency, nuclear type 5	OMIM2024Q4	UQCRC2
+191840_AD:Quebec platelet disorder##AD:{Alzheimer disease, late-onset, susceptibility to}	OMIM2024Q4	PLAU
+192090_AD:Blepharocheilodontic syndrome 1##.:Breast cancer, lobular, somatic##AD:Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate##.:Endometrial carcinoma, somatic##.:Ovarian cancer, somatic	OMIM2024Q4	CDH1
+208500_AR:Short-rib thoracic dysplasia 1 with or without polydactyly	OMIM2024Q4	ATD
+601368_AD:Robinow syndrome, autosomal dominant 3	OMIM2024Q4	DVL3
+601407_.:Diabetes mellitus, noninsulin-dependent, 2	OMIM2024Q4	NIDDM2
+601424_AR:Succinyl CoA:3-oxoacid CoA transferase deficiency	OMIM2024Q4	OXCT1
+601439_AD:?Atrial fibrillation, familial, 12##AD:Cardiomyopathy, dilated, 1O##AD:Hypertrichotic osteochondrodysplasia (Cantu syndrome)##AR:Intellectual disability and myopathy syndrome	OMIM2024Q4	ABCC9
+601458_.:{Inflammatory bowel disease 2}	OMIM2024Q4	IBD2
+601496_AR:Renal hypodysplasia/aplasia 4	OMIM2024Q4	GFRA1
+601500_.:Basal cell carcinoma, somatic##.:Curry-Jones syndrome, somatic mosaic##AR:Pallister-Hall-like syndrome	OMIM2024Q4	SMO
+601512_AD:Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	OMIM2024Q4	STAT6
+601545_AD:Lissencephaly 1##AD:Subcortical laminar heterotopia	OMIM2024Q4	PAFAH1B1
+601566_.:Squamous cell carcinoma, head and neck, somatic	OMIM2024Q4	ING1
+601568_AR:Cerebral palsy, spastic quadriplegic, 3	OMIM2024Q4	ADD3
+601581_AR:Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	OMIM2024Q4	NRCAM
+601609_AR:3-hydroxyacyl-CoA dehydrogenase deficiency##AR:Hyperinsulinemic hypoglycemia, familial, 4	OMIM2024Q4	HADH
+601614_AD:Mirror movements 4	OMIM2024Q4	NTN1
+601652_AD:Glaucoma 1A, primary open angle	OMIM2024Q4	MYOC
+601689_AR:?Spermatogenic failure 13	OMIM2024Q4	TAF4B
+601693_.:{Obesity, susceptibility to, BMIQ4}	OMIM2024Q4	UCP2
+601735_AD:Coffin-Siris syndrome 11	OMIM2024Q4	SMARCD1
+601768_AD/SMu:Leukemia, acute myeloid	OMIM2024Q4	SH3GL1
+601802_AD/AR:Growth hormone deficiency with pituitary anomalies##AD/AR:Pituitary hormone deficiency, combined, 5##AD/AR:Septooptic dysplasia	OMIM2024Q4	HESX1
+601837_AR:LIG4 syndrome##SMu:{Multiple myeloma, resistance to}	OMIM2024Q4	LIG4
+601893_AD:Intellectual developmental disorder, autosomal dominant 44, with microcephaly##AD:Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	OMIM2024Q4	TRIO
+601930_AD:?Premature ovarian failure 16	OMIM2024Q4	BNC1
+601968_AR:Diarrhea 9	OMIM2024Q4	WNT2B
+601975_AR:Ectodermal dysplasia/skin fragility syndrome	OMIM2024Q4	PKP1
+601991_AD:Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	OMIM2024Q4	NOVA2
+602000_AD:Treacher-Collins syndrome 4	OMIM2024Q4	POLR1B
+602009_AR:Mitochondrial complex IV deficiency, nuclear type 18	OMIM2024Q4	COX6A2
+602023_AR:Bartter syndrome, type 3##DR:Bartter syndrome, type 4b, digenic	OMIM2024Q4	CLCNKB
+602033_AR:Band heterotopia	OMIM2024Q4	EML1
+602053_.:Gastric cancer, somatic##.:Prostate cancer, somatic	OMIM2024Q4	KLF6
+602064_AR:Intellectual developmental disorder, autosomal recessive 59	OMIM2024Q4	IMPA1
+602104_AD:Cherubism	OMIM2024Q4	SH3BP2
+602105_AR:Premature ovarian failure 20##AR:Spermatogenic failure 2	OMIM2024Q4	MSH4
+602109_AD:Epiphyseal dysplasia, multiple, 5##AR:Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type##AD:{Osteoarthritis susceptibility 2}	OMIM2024Q4	MATN3
+602115_AD:Aplasia of lacrimal and salivary glands##AD:LADD syndrome 3	OMIM2024Q4	FGF10
+602119_AD:Developmental and epileptic encephalopathy 94	OMIM2024Q4	CHD2
+602134_AD:Essential tremor, hereditary, 2	OMIM2024Q4	ETM2
+602137_AR:Mitochondrial complex I deficiency, nuclear type 13	OMIM2024Q4	NDUFA2
+602142_AD/AR:Nail disorder, nonsyndromic congenital, 3, (leukonychia)	OMIM2024Q4	PLCD1
+602146_AD:Pituitary hormone deficiency, combined, 4	OMIM2024Q4	LHX4
+602170_AR:Immunodeficiency 68##.:Macroglobulinemia, Waldenstrom, somatic	OMIM2024Q4	MYD88
+602207_AR:Warburg micro syndrome 3	OMIM2024Q4	RAB18
+602208_AR:Enlarged vestibular aqueduct, digenic##AR:SESAME syndrome	OMIM2024Q4	KCNJ10
+300371_XLR:Adrenoleukodystrophy##XLR:Adrenomyeloneuropathy, adult	OMIM2024Q4	ABCD1
+300391_XLD:Amelogenesis imperfecta, type 1E	OMIM2024Q4	AMELX
+300395_XL:Arthrogryposis multiplex congenita 7, X-linked##XL:Intellectual developmental disorder, X-linked syndromic, Kumar type	OMIM2024Q4	THOC2
+300453_XLR:Intellectual developmental disorder, X-linked syndromic, Armfield type	OMIM2024Q4	FAM50A
+300471_XLR:Cubitus valgus with impaired intellectual development and unusual facies	OMIM2024Q4	CVMRF
+300473_XL:46XY sex reversal 2, dosage-sensitive##XLR:Adrenal hypoplasia, congenital	OMIM2024Q4	NR0B1
+300561_XL:Intellectual developmental disorder, X-linked 111	OMIM2024Q4	SLITRK2
+300628_XL:Nystagmus 1, congenital, X-linked##XL:Nystagmus, infantile periodic alternating, X-linked	OMIM2024Q4	FRMD7
+300710_.:Alopecia, androgenetic, 2	OMIM2024Q4	AGA2
+300719_XLR:Deafness, cataract, retinitis pigmentosa, and sperm abnormalities	OMIM2024Q4	DFCTRPS
+300746_XLR:Hemophilia B##XLR:Thrombophilia 8, X-linked, due to factor IX defect##XLR:{Deep venous thrombosis, protection against}##XL:{Warfarin sensitivity}	OMIM2024Q4	F9
+300756_.:{Alzheimer disease 16}	OMIM2024Q4	AD16
+300766_XLR:Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type	OMIM2024Q4	NKAP
+300838_XL:Intellectual developmental disorder, X-linked 104	OMIM2024Q4	FRMPD4
+300856_.:{Hypospadias 4, X-linked, susceptibility to}	OMIM2024Q4	HYSP4
+300870_.:Aneurysm, intracranial berry, 5	OMIM2024Q4	ANIB5
+301012_XL:?Intellectual developmental disorder, X-linked 107	OMIM2024Q4	STEEP1
+301201_XL:?Amelogenesis imperfecta, type IE, X-linked 2	OMIM2024Q4	AIH3
+301300_XLR:Anemia, sideroblastic, 1##XL:Protoporphyria, erythropoietic, X-linked	OMIM2024Q4	ALAS2
+303630_XLD:Alport syndrome 1, X-linked	OMIM2024Q4	COL4A5
+304730_XL:Dermoids of cornea	OMIM2024Q4	CND
+306250_PR:Surfactant metabolism dysfunction, pulmonary, 4	OMIM2024Q4	CSF2RA
+605495_DR:Hyperbilirubinemia, Rotor type, digenic	OMIM2024Q4	SLCO1B3
+605566_AD:{Schizophrenia, susceptibility to}	OMIM2024Q4	RTN4R
+605582_.:Cardiomyopathy, dilated, 1K	OMIM2024Q4	CMD1K
+605584_AR:Retinitis pigmentosa 84	OMIM2024Q4	DHX38
+605608_AR:Deafness, autosomal recessive 29	OMIM2024Q4	CLDN14
+605610_AR:?Charcot-Marie-Tooth disease, type 2B2##AR:Ataxia-oculomotor apraxia 4##AR:Microcephaly, seizures, and developmental delay	OMIM2024Q4	PNKP
+605629_AR:Microcephaly 17, primary, autosomal recessive	OMIM2024Q4	CIT
+605722_AR:Hypokalemic tubulopathy and deafness	OMIM2024Q4	KCNJ16
+605728_.:Cataract 25	OMIM2024Q4	CTRCT25
+605746_.:Anisomastia	OMIM2024Q4	ANMA
+605779_AD:Nail disorder, nonsyndromic congenital, 7	OMIM2024Q4	NDIC
+605815_AR:Striatonigral degeneration, infantile	OMIM2024Q4	NUP62
+605833_.:[Bone mineral density QTL 2]	OMIM2024Q4	BMND2
+605874_.:Birk-Barel syndrome	OMIM2024Q4	KCNK9
+605921_AR:Immunodeficiency 10##AD:Myopathy, tubular aggregate, 1##AD:Stormorken syndrome	OMIM2024Q4	STIM1
+605934_.:Holoprosencephaly 6	OMIM2024Q4	HPE6
+605948_AD:Megalencephalic leukoencephalopathy with subcortical cysts 3	OMIM2024Q4	GPRC5B
+606000_AD:{Sarcoidosis, susceptibility to, 2}	OMIM2024Q4	BTNL2
+606014_AR:Frontonasal dysplasia 1	OMIM2024Q4	ALX3
+606029_AR:Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	OMIM2024Q4	CPSF3
+606036_AR:?Webb-Dattani syndrome	OMIM2024Q4	ARNT2
+606062_AD:Cornelia de Lange syndrome 3	OMIM2024Q4	SMC3
+606162_AD:?Cataract 49	OMIM2024Q4	PANK4
+606214_AR:Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	OMIM2024Q4	SPTBN4
+606264_AR:Candidiasis, familial, 4, autosomal recessive##.:{Aspergillosis, susceptibility to}	OMIM2024Q4	CLEC7A
+606323_AD:Developmental and epileptic encephalopathy 65	OMIM2024Q4	CYFIP2
+606325_.:?Heterotaxy, visceral, 3, autosomal	OMIM2024Q4	HTX3
+606348_.:{Inflammatory bowel disease 5}	OMIM2024Q4	IBD5
+606352_AR:Amyotrophic lateral sclerosis 2, juvenile##AR:Primary lateral sclerosis, juvenile##AR:Spastic paralysis, infantile onset ascending	OMIM2024Q4	ALS2
+606373_AR:Intellectual developmental disorder, autosomal recessive 47	OMIM2024Q4	FMN2
+606397_.:Retinitis pigmentosa 61##AR:Usher syndrome, type 3A	OMIM2024Q4	CLRN1
+606410_AR:GAPO syndrome##AD:{?Hemangioma, capillary infantile, susceptibility to}	OMIM2024Q4	ANTXR1
+606417_AD:Hypogonadotropic hypogonadism 14 with or without anosmia##AR:Intellectual developmental disorder, autosomal recessive 78	OMIM2024Q4	WDR11
+606464_AR:Hemochromatosis, type 2B	OMIM2024Q4	HAMP
+606520_AR:?Thrombocytopenia, anemia, and myelofibrosis	OMIM2024Q4	MPIG6B
+606521_AR:Microcephaly, Amish type##AR:Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	OMIM2024Q4	SLC25A19
+602377_AD:Developmental and epileptic encephalopathy 31A, autosomal dominant##AR:Developmental and epileptic encephalopathy 31B, autosomal recessive	OMIM2024Q4	DNM1
+602445_AD:Encephalopathy, familial, with neuroserpin inclusion bodies	OMIM2024Q4	SERPINI1
+602457_AR:Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	OMIM2024Q4	FADD
+602533_AR:Parkinson disease 7, autosomal recessive early-onset	OMIM2024Q4	PARK7
+602570_AR:Muscular dystrophy, limb-girdle, autosomal recessive 27	OMIM2024Q4	JAG2
+602600_.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	LRP8
+602639_.:Tooth agenesis, selective, 2	OMIM2024Q4	HYD2
+602642_AR:Osteopetrosis, autosomal recessive 2	OMIM2024Q4	TNFSF11
+602656_AR:Familial adenomatous polyposis 3	OMIM2024Q4	NTHL1
+602661_AD:Cortical dysplasia, complex, with other brain malformations 1##AD:Fibrosis of extraocular muscles, congenital, 3A	OMIM2024Q4	TUBB3
+602667_.:Aplastic anemia##.:Leukemia, acute lymphoblastic##AR:Nijmegen breakage syndrome	OMIM2024Q4	NBN
+602676_AR:Joubert syndrome 22	OMIM2024Q4	PDE6D
+602713_AR:Cone-rod dystrophy 9	OMIM2024Q4	ADAM9
+602715_AR:?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	OMIM2024Q4	LMOD1
+602731_AR:Thrombocytopenia 3	OMIM2024Q4	FYB1
+602758_AD:Deafness, autosomal dominant 87	OMIM2024Q4	PI4KB
+602769_.:Acute myeloid leukemia, somatic##AD:Heyn-Sproul-Jackson syndrome##AD:Tatton-Brown-Rahman syndrome	OMIM2024Q4	DNMT3A
+602775_AD:Noonan syndrome-like with loose anagen hair 1	OMIM2024Q4	SHOC2
+602826_AD:?Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2	OMIM2024Q4	H4C11
+602830_AD:Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3	OMIM2024Q4	H4C5
+602880_AD:Congenital heart defects, multiple types, 6##AR:Right atrial isomerism (Ivemark)	OMIM2024Q4	GDF1
+602955_AR:Alazami-Yuan syndrome	OMIM2024Q4	TAF6
+602959_AD:Developmental and epileptic encephalopathy 33##AD:Intellectual developmental disorder, autosomal dominant 38	OMIM2024Q4	EEF1A2
+602978_AR:?Microcephaly 11, primary, autosomal recessive	OMIM2024Q4	PHC1
+602981_AR:Ehlers-Danlos syndrome, classic-like, 2	OMIM2024Q4	AEBP1
+602991_AD:Brachydactyly, type B2##AD:Multiple synostoses syndrome 1##AD:Stapes ankylosis with broad thumbs and toes##AD:Symphalangism, proximal, 1A##AD:Tarsal-carpal coalition syndrome	OMIM2024Q4	NOG
+603026_.:Adenomas, salivary gland pleomorphic, somatic##AD:Silver-Russell syndrome 4	OMIM2024Q4	PLAG1
+603033_AR:Myasthenic syndrome, congenital, 5	OMIM2024Q4	COLQ
+603048_AR:Glycosylphosphatidylinositol biosynthesis defect 15	OMIM2024Q4	GPAA1
+603084_AR:Hypomyelination with brainstem and spinal cord involvement and leg spasticity	OMIM2024Q4	DARS1
+603094_.:[Blood group, P1PK system, P(k) phenotype]##.:[Blood group, globoside system]	OMIM2024Q4	B3GALNT1
+603109_AD:Loeys-Dietz syndrome 3	OMIM2024Q4	SMAD3
+603184_AD:Intellectual developmental disorder with hypotonia and behavioral abnormalities	OMIM2024Q4	CDK8
+603206_AD:{Schizophrenia}	OMIM2024Q4	SCZD8
+603212_AD:Cataract 12, multiple types	OMIM2024Q4	BFSP2
+603213_AD:Spondyloepimetaphyseal dysplasia with joint laxity, type 2	OMIM2024Q4	KIF22
+603297_AR/DR:Short-rib thoracic dysplasia 3 with or without polydactyly	OMIM2024Q4	DYNC2H1
+603301_.:Maturity-onset diabetes of the young, type VII	OMIM2024Q4	KLF11
+603342_AD:{?Schizophrenia}	OMIM2024Q4	SCZD2
+603355_AR:?Spondyloepiphyseal dysplasia, Kondo-Fu type	OMIM2024Q4	MBTPS1
+603426_AD:?Advanced sleep phase syndrome, familial, 1	OMIM2024Q4	PER2
+222400_AR:Diaphragmatic hernia 2	OMIM2024Q4	DIH2
+247640_AR:Leukemia, acute lymphoblastic	OMIM2024Q4	LALL
+248611_AR:Maple syrup urine disease, type Ib	OMIM2024Q4	BCKDHB
+251600_AR:Microphthalmia, isolated 1	OMIM2024Q4	MCOP1
+311770_XLR:Multiple congenital anomalies-hypotonia-seizures syndrome 2##XLR:Neurodevelopmental disorder with epilepsy and hemochromatosis##.:Paroxysmal nocturnal hemoglobinuria, somatic	OMIM2024Q4	PIGA
+312173_XLR:Intellectual developmental disorder, X-linked syndromic 35##.:{Autism, susceptibility to, X-linked 5}	OMIM2024Q4	RPL10
+313000_?XLR:Turner syndrome-associated neurocognitive phenotype##?XLR:[Visuospatial/perceptual abilities]	OMIM2024Q4	VSPA
+313475_XLR:Intellectual developmental disorder, X-linked 96	OMIM2024Q4	SYP
+313850_XL:Thoracoabdominal syndrome	OMIM2024Q4	THAS
+314300_XL:Goeminne TKCR syndrome	OMIM2024Q4	TKCR
+314310_XL:Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies##.:Renal cell carcinoma, papillary, 1	OMIM2024Q4	TFE3
+314990_XL:Intellectual developmental disorder, X-linked 97	OMIM2024Q4	ZNF711
+600008_.:Homocysteine plasma level	OMIM2024Q4	NNMT
+600020_.:Neurofibrosarcoma, somatic##.:Prostate cancer, somatic	OMIM2024Q4	MXI1
+600023_AR:Elsahy-Waters syndrome##AD:Teebi hypertelorism syndrome 2	OMIM2024Q4	CDH11
+600035_.:Schizencephaly	OMIM2024Q4	EMX2
+600047_AR:Intellectual developmental disorder with poor growth and with or without seizures or ataxia	OMIM2024Q4	ABCA2
+600075_AD:Spinocerebellar ataxia 17##AD/Mu:{Parkinson disease, susceptibility to}	OMIM2024Q4	TBP
+600079_.:Colon cancer, somatic	OMIM2024Q4	PTPN12
+600085_AD:Immunodeficiency 82 with systemic inflammation	OMIM2024Q4	SYK
+600089_AR:?Diabetes mellitus, insulin-dependent, neonatal	OMIM2024Q4	PBCA
+600144_AR:?Anhidrosis, isolated, with normal sweat glands	OMIM2024Q4	ITPR2
+600160_AD:{Melanoma and neural system tumor syndrome}##AD:{Melanoma, cutaneous malignant, 2}##AD:{Melanoma-pancreatic cancer syndrome}	OMIM2024Q4	CDKN2A
+600165_AD:Nanophthalmos-1	OMIM2024Q4	NNO1
+600187_AD:Faundes-Banka syndrome	OMIM2024Q4	EIF5A
+600193_AD:Waardenburg syndrome, type 2B	OMIM2024Q4	WS2B
+600220_AD:Autoinflammation, antibody deficiency, and immune dysregulation syndrome##AD:Familial cold autoinflammatory syndrome 3	OMIM2024Q4	PLCG2
+600275_AD:Alagille syndrome 2##AD:Hajdu-Cheney syndrome	OMIM2024Q4	NOTCH2
+600298_AD:Deafness, autosomal dominant 7	OMIM2024Q4	LMX1A
+600301_AR:2-methylbutyrylglycinuria	OMIM2024Q4	ACADSB
+600322_AD:?Myasthenic syndrome, congenital, 18	OMIM2024Q4	SNAP25
+600336_AR:Myasthenic syndrome, congenital, 21, presynaptic	OMIM2024Q4	SLC18A3
+600480_AD:Craniosynostosis 3##AD/AR:Hypogonadotropic hypogonadism 26 with or without anosmia	OMIM2024Q4	TCF12
+600490_AR:?Joint contracture, osteochondromas, and B-cell lymphoma	OMIM2024Q4	NFATC2
+600510_AD:Ocular pigment dispersion with or without glaucoma	OMIM2024Q4	GPDS1
+600525_AD:Amelogenesis imperfecta, type IV##AD:Trichodontoosseous syndrome	OMIM2024Q4	DLX3
+600542_.:Chondrosarcoma, extraskeletal myxoid	OMIM2024Q4	NR4A3
+600555_AD:Immunodeficiency 31A, mycobacteriosis, autosomal dominant##AR:Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive##AD:Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant	OMIM2024Q4	STAT1
+600570_AD:Hyperaldosteronism, familial, type II##AR:Leukoencephalopathy with ataxia##AD:{Epilepsy, idiopathic generalized, susceptibility to, 11}##AD:{Epilepsy, juvenile absence, susceptibility to, 2}##AD:{Epilepsy, juvenile myoclonic, susceptibility to, 8}	OMIM2024Q4	CLCN2
+600579_AR:Nephrotic syndrome, type 6	OMIM2024Q4	PTPRO
+600608_AD:Myopia 25, autosomal dominant	OMIM2024Q4	P4HA2
+606570_AR:Pyle disease	OMIM2024Q4	SFRP4
+606609_AD/AR:Aicardi-Goutieres syndrome 1, dominant and recessive##AD:Chilblain lupus##AD:Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations##AD:{Systemic lupus erythematosus, susceptibility to}	OMIM2024Q4	TREX1
+606628_AR:Glycine N-methyltransferase deficiency	OMIM2024Q4	GNMT
+606635_AR:Enterokinase deficiency	OMIM2024Q4	TMPRSS15
+606689_.:Glaucoma 1B, primary open angle, adult onset	OMIM2024Q4	GLC1B
+606712_Mu:Specific language impairment QTL, 2	OMIM2024Q4	SLI2
+606725_AR:Ceroid lipofuscinosis, neuronal, 6A##AR:Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	OMIM2024Q4	CLN6
+606747_AD:?Cardiomyopathy, dilated, 1OO	OMIM2024Q4	VEZF1
+606788_.:{Anorexia nervosa, susceptibility to, 1}	OMIM2024Q4	ANON1
+606797_AR:Ichthyosis, congenital, autosomal recessive 11	OMIM2024Q4	ST14
+606808_AD:Deafness, autosomal dominant 90##AR:Deafness, autosomal recessive 30	OMIM2024Q4	MYO3A
+606817_AR:Immunodeficiency 126	OMIM2024Q4	PTCRA
+606844_AR:Alstrom syndrome	OMIM2024Q4	ALMS1
+606870_AR:Basal ganglia calcification, idiopathic, 8, autosomal recessive	OMIM2024Q4	JAM2
+606871_AR:Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	OMIM2024Q4	JAM3
+606928_.:[Bone mineral density QTL 3]	OMIM2024Q4	BMND3
+606973_AR:Congenital disorder of glycosylation, type IIg	OMIM2024Q4	COG1
+607070_AR:Ciliary dyskinesia, primary, 22	OMIM2024Q4	ZMYND10
+607072_AD:Epilepsy, familial focal, with variable foci 2	OMIM2024Q4	NPRL2
+607082_AR:Cerebellar atrophy with seizures and variable developmental delay	OMIM2024Q4	CACNA2D2
+607093_AR:Homocystinuria due to MTHFR deficiency##AR:{Neural tube defects, susceptibility to}##AD:{Schizophrenia, susceptibility to}##AD:{Thromboembolism, susceptibility to}##.:{Vascular disease, susceptibility to}	OMIM2024Q4	MTHFR
+607163_AR:Myopia 28, autosomal recessive	OMIM2024Q4	LOXL3
+607210_AD:B-cell expansion with NFKB and T-cell anergy##AR:Immunodeficiency 11A##AD:Immunodeficiency 11B with atopic dermatitis	OMIM2024Q4	CARD11
+607212_AR:Immunodeficiency 103, susceptibility to fungal infection	OMIM2024Q4	CARD9
+607244_AR:Spastic paraplegia 51, autosomal recessive##AD:Stuttering, familial persistent, 1	OMIM2024Q4	AP4E1
+607352_AD:Developmental and epileptic encephalopathy 64	OMIM2024Q4	RHOBTB2
+607386_AR:Bardet-Biedl syndrome 20##AR:Retinitis pigmentosa 71##AR:Short-rib thoracic dysplasia 10 with or without polydactyly	OMIM2024Q4	IFT172
+607440_AR:Cardiomyopathy, dilated, 1X##AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4##AR:Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	OMIM2024Q4	FKTN
+607446_.:[Body mass index QTL3]	OMIM2024Q4	BMIQ3
+607479_AD:Hypotrichosis 1	OMIM2024Q4	APCDD1
+607512_AR:Microcornea, myopic chorioretinal atrophy, and telecanthus	OMIM2024Q4	ADAMTS18
+607592_.:{Prostate cancer aggressiveness QTL}	OMIM2024Q4	HPCQTL19
+607604_AR:Retinal cone dystrophy 3B	OMIM2024Q4	KCNV2
+607607_AR:Dystonia 37, early-onset, with striatal lesions	OMIM2024Q4	NUP54
+607614_AR:?Nephrotic syndrome, type 19	OMIM2024Q4	NUP160
+603489_.:{Lumbar disc disease, susceptibility to}	OMIM2024Q4	CILP
+603490_AR:?SERKAL syndrome##AD:Mullerian aplasia and hyperandrogenism	OMIM2024Q4	WNT4
+603517_AR:?Immunodeficiency 37##.:Lymphoma, MALT, somatic##.:{Lymphoma, follicular, somatic}##.:{Male germ cell tumor, somatic}##.:{Mesothelioma, somatic}##.:{Sezary syndrome, somatic}	OMIM2024Q4	BCL10
+603537_AD:Deafness, autosomal dominant 2A	OMIM2024Q4	KCNQ4
+603557_AR:Charcot-Marie-Tooth disease, type 4B1	OMIM2024Q4	MTMR2
+603590_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6##AR:Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6	OMIM2024Q4	LARGE1
+603612_AR:Squamous cell carcinoma, head and neck	OMIM2024Q4	TNFRSF10B
+603632_AD:Diamond-Blackfan anemia 9	OMIM2024Q4	RPS10
+603664_.:{Mental health wellness-2}	OMIM2024Q4	MHW2
+603678_AR:Deafness, autosomal recessive 14	OMIM2024Q4	DFNB14
+603709_AR:Developmental and epileptic encephalopathy 61	OMIM2024Q4	ADAM22
+603727_AR:Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	OMIM2024Q4	QARS1
+603729_AR:RENI syndrome	OMIM2024Q4	SGPL1
+603741_AR:Ichthyosis, congenital, autosomal recessive 2	OMIM2024Q4	ALOX12B
+603767_AR:Amelogenesis imperfecta, type IIA1	OMIM2024Q4	KLK4
+603845_AR:Mitochondrial complex I deficiency, nuclear type 36	OMIM2024Q4	NDUFC2
+603856_AD:Precocious puberty, central, 2	OMIM2024Q4	MKRN3
+603859_AR:Citrullinemia, adult-onset type II##AR:Citrullinemia, type II, neonatal-onset	OMIM2024Q4	SLC25A13
+603867_AR:Peroxisome biogenesis disorder 14B	OMIM2024Q4	PEX11B
+603873_AR:Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	OMIM2024Q4	PLAA
+603918_Mu:{Hypertension, essential, susceptibility to, 1}	OMIM2024Q4	HYT1
+603935_.:{Psoriasis susceptibility 4}	OMIM2024Q4	PSORS4
+603959_AR:Hypomagnesemia 3, renal	OMIM2024Q4	CLDN16
+603960_AR:Spermatogenic failure 91	OMIM2024Q4	CCIN
+603968_AR:Xeroderma pigmentosum, variant type	OMIM2024Q4	POLH
+604040_AR:Nijmegen breakage syndrome-like disorder	OMIM2024Q4	RAD50
+604061_AD:Amyotrophy, hereditary neuralgic	OMIM2024Q4	SEPTIN9
+604088_AD/AR:{Hypercholesterolemia, susceptibility to}	OMIM2024Q4	PPP1R17
+604124_AR:Jawad syndrome##.:Pancreatic carcinoma, somatic##AR:Seckel syndrome 2	OMIM2024Q4	RBBP8
+604201_.:{Hepatic fibrosis susceptibility due to Schistosoma mansoni infection}	OMIM2024Q4	SM2
+604202_AR:Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	OMIM2024Q4	SNAP29
+604258_.:Colorectal cancer, somatic	OMIM2024Q4	DLC1
+604261_AR:?Spinocerebellar ataxia, autosomal recessive 25	OMIM2024Q4	ATG5
+604267_AR:Carpenter syndrome 2	OMIM2024Q4	MEGF8
+604303_AR:Spermatogenic failure 86	OMIM2024Q4	ACTL7A
+604313_AR:Galactokinase deficiency with cataracts	OMIM2024Q4	GALK1
+604322_AR:Salla disease##AR:Sialic acid storage disorder, infantile	OMIM2024Q4	SLC17A5
+604327_AR:Ehlers-Danlos syndrome, spondylodysplastic type, 1	OMIM2024Q4	B4GALT7
+600712_AD:Au-Kline syndrome	OMIM2024Q4	HNRNPK
+600759_AD:Alzheimer disease-4##AD:Cardiomyopathy, dilated, 1V	OMIM2024Q4	PSEN2
+600810_AD:Auriculocondylar syndrome 2A##AR:Auriculocondylar syndrome 2B	OMIM2024Q4	PLCB4
+600825_AD:Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	OMIM2024Q4	RORA
+600838_AR:T-cell immunodeficiency, congenital alopecia, and nail dystrophy##AD:T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant	OMIM2024Q4	FOXN1
+600853_AR:Intellectual developmental disorder, autosomal recessive 46	OMIM2024Q4	NDST1
+600856_AD:Beckwith-Wiedemann syndrome##AD:IMAGE syndrome	OMIM2024Q4	CDKN1C
+600937_AD:Diabetes mellitus, transient neonatal 3##AD:Diabetes, permanent neonatal 2, with or without neurologic features##AD/AR:Hyperinsulinemic hypoglycemia, familial, 2##AD:Maturity-onset diabetes of the young, type 13##AD:{Diabetes mellitus, type 2, susceptibility to}	OMIM2024Q4	KCNJ11
+600943_AR:Osteogenesis imperfecta, type X##Mu:{Preterm premature rupture of the membranes, susceptibility to}	OMIM2024Q4	SERPINH1
+600968_AR:Gitelman syndrome	OMIM2024Q4	SLC12A3
+600983_.:Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy##AD:Pseudohypoaldosteronism type I, autosomal dominant	OMIM2024Q4	NR3C2
+601023_AD:Charcot-Marie-Tooth disease, type 2Y##AD:Frontotemporal dementia and/or amyotrophic lateral sclerosis 6##AD:Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	OMIM2024Q4	VCP
+601033_AR:?Bent bone dysplasia syndrome 2##AR:Nephrotic syndrome, type 26	OMIM2024Q4	LAMA5
+601094_AR:Anterior segment dysgenesis 2, multiple subtypes##.:Cataract 34, multiple types##AD:{Aortic aneurysm, familial thoracic 11, susceptibility to}	OMIM2024Q4	FOXE3
+601134_AD:Congenital disorder of glycosylation, type Iw, autosomal dominant##AR:Congenital disorder of glycosylation, type Iw, autosomal recessive	OMIM2024Q4	STT3A
+601181_AD:{Encephalopathy, acute, infection-induced, 3, susceptibility to}	OMIM2024Q4	RANBP2
+601205_AD:Branchiootic syndrome 3##AD:Deafness, autosomal dominant 23	OMIM2024Q4	SIX1
+601231_.:Focal cortical dysplasia, type II, somatic##AD:Smith-Kingsmore syndrome	OMIM2024Q4	MTOR
+601253_AD/DD:Cardiomyopathy, familial hypertrophic##AD:Creatine phosphokinase, elevated serum##AD:Long QT syndrome 9##AD:Myopathy, distal, Tateyama type##AD:Rippling muscle disease 2	OMIM2024Q4	CAV3
+601255_AD:NESCAV syndrome##AR:Neuropathy, hereditary sensory, type IIC##AD:Spastic paraplegia 30, autosomal dominant##AR:Spastic paraplegia 30, autosomal recessive	OMIM2024Q4	KIF1A
+601373_.:{Diabetes mellitus, insulin-dependent, 22}##.:{HIV infection, susceptibility/resistance to}##.:{Hepatitis C virus, resistance to}##.:{West nile virus, susceptibility to}	OMIM2024Q4	CCR5
+601397_AR:Sacral agenesis with vertebral anomalies##AD:{Neural tube defects, susceptibility to}	OMIM2024Q4	TBXT
+601421_AR:?Charcot-Marie-Tooth disease, recessive intermediate, B##AR:Deafness, autosomal recessive 89##AR:Deafness, congenital, and adult-onset progressive leukoencephalopathy##AR:Leukoencephalopathy, progressive, infantile-onset, with or without deafness	OMIM2024Q4	KARS1
+601440_AR:Nephrotic syndrome, type 7##AR:{Hemolytic uremic syndrome, atypical, susceptibility to, 7}	OMIM2024Q4	DGKE
+601465_AR:Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)##AR:Portal hypertension, noncirrhotic, 1##AR:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	OMIM2024Q4	DGUOK
+601487_.:Carotid intimal medial thickness 1##AD:Insulin resistance, severe, digenic##AD:Lipodystrophy, familial partial, type 3##AD/AR/Mu:Obesity, severe##.:[Obesity, resistance to]##AD:{Diabetes, type 2}	OMIM2024Q4	PPARG
+601489_AR:Acid-labile subunit, deficiency of	OMIM2024Q4	IGFALS
+601515_AD:Spinocerebellar ataxia 27A##AD:Spinocerebellar ataxia 27B, late-onset	OMIM2024Q4	FGF14
+601538_AR:Pituitary hormone deficiency, combined, 2	OMIM2024Q4	PROP1
+601567_AR:Combined factor V and VIII deficiency	OMIM2024Q4	LMAN1
+601591_AR:Acromesomelic dysplasia 4##AR:Spondylometaphyseal dysplasia, Pagnamenta type	OMIM2024Q4	PRKG2
+601633_AD:Developmental and epileptic encephalopathy 96	OMIM2024Q4	NSF
+272370_AR:{Lysis by alloreactive natural killer cells, susceptibility to}	OMIM2024Q4	NKS1
+274180_AR:Ghosal hematodiaphyseal syndrome	OMIM2024Q4	TBXAS1
+276903_AD:Deafness, autosomal dominant 11##AR:Deafness, autosomal recessive 2##AR:Usher syndrome, type 1B	OMIM2024Q4	MYO7A
+300030_XL:Deafness, X-linked 3	OMIM2024Q4	DFNX3
+300032_.:Alpha-thalassemia myelodysplasia syndrome, somatic##XLD:Alpha-thalassemia/impaired intellectual development syndrome##XLR:Intellectual disability-hypotonic facies syndrome, X-linked	OMIM2024Q4	ATRX
+300079_XLR:Lymphoproliferative syndrome, X-linked, 2	OMIM2024Q4	XIAP
+300082_XL:[Social cognition]	OMIM2024Q4	CGF1
+300120_XLR:Hypospadias 2, X-linked	OMIM2024Q4	MAMLD1
+300180_XLR:Chondrodysplasia punctata, X-linked recessive	OMIM2024Q4	ARSL
+300193_XL:?Microphthalmia, syndromic 13	OMIM2024Q4	HMGB3
+300269_XLD:Cornelia de Lange syndrome 5	OMIM2024Q4	HDAC8
+300356_XLR:Mohr-Tranebjaerg syndrome	OMIM2024Q4	TIMM8A
+300372_.:Intellectual developmental disorder, X-linked 42	OMIM2024Q4	MRX42
+300415_XLR:Myopathy, centronuclear, X-linked	OMIM2024Q4	MTM1
+300518_XLR:Intellectual developmental disorder, X-linked 82	OMIM2024Q4	MRX82
+300519_XLR:Martin-Probst syndrome	OMIM2024Q4	MRXSMP
+300536_.:[Bone mineral density QTL 4]	OMIM2024Q4	BMND4
+300646_XL:Intellectual developmental disorder, X-linked syndromic, Raymond type	OMIM2024Q4	ZDHHC9
+300697_XL:Intellectual developmental disorder, X-linked syndromic, Turner type	OMIM2024Q4	HUWE1
+300716_XLD:Intellectual developmental disorder, X-linked 95	OMIM2024Q4	MRX95
+300724_XL:Intellectual developmental disorder, X-linked syndromic, Houge type	OMIM2024Q4	CNKSR2
+300747_XLR:Ichthyosis, X-linked	OMIM2024Q4	STS
+607644_AD:Candidiasis, familial, 3	OMIM2024Q4	CANDN1
+607697_AR:Charcot-Marie-Tooth disease, type 4B2	OMIM2024Q4	SBF2
+607701_AR:Nemaline myopathy 9	OMIM2024Q4	KLHL41
+607728_.:Porokeratosis 4, disseminated superficial actinic	OMIM2024Q4	POROK4
+607817_AR:Cohen syndrome	OMIM2024Q4	VPS13B
+607843_AR:Deafness, autosomal recessive 124	OMIM2024Q4	PKHD1L1
+607871_AD:Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	OMIM2024Q4	FBXO11
+607905_AR:Congenital disorder of glycosylation, type Ii##AR:Myasthenic syndrome, congenital, 14, with tubular aggregates	OMIM2024Q4	ALG2
+607928_AR:Deafness, autosomal recessive 31##AR:Usher syndrome, type 2D	OMIM2024Q4	WHRN
+607929_AD:Cerebral cavernous malformations-2	OMIM2024Q4	CCM2
+607939_AR:Multiple sulfatase deficiency	OMIM2024Q4	SUMF1
+607955_AR:?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma##AD:Dyschromatosis universalis hereditaria 1	OMIM2024Q4	SASH1
+607968_AR:Bardet-Biedl syndrome 9	OMIM2024Q4	BBS9
+607980_AR:Garg-Mishra progeroid syndrome	OMIM2024Q4	TOMM7
+607999_AD:Intellectual developmental disorder, autosomal dominant 52	OMIM2024Q4	ASH1L
+608014_AD:Charcot-Marie-Tooth disease, axonal, type 2L##AD:Neuronopathy, distal hereditary motor, autosomal dominant 2	OMIM2024Q4	HSPB8
+608059_AR:Spondylocostal dysostosis 4, autosomal recessive	OMIM2024Q4	HES7
+608075_AR:Spermatogenic failure 17	OMIM2024Q4	PLCZ1
+608096_AD:Epilepsy, familial temporal lobe, 2	OMIM2024Q4	ETL2
+608131_AR:?Anencephaly 2	OMIM2024Q4	NUAK2
+608183_AR:Temtamy preaxial brachydactyly syndrome	OMIM2024Q4	CHSY1
+608188_AR:Combined oxidative phosphorylation deficiency 57	OMIM2024Q4	CRLS1
+608244_AD:Otosclerosis 3	OMIM2024Q4	OTSC3
+608251_.:Phobia, specific	OMIM2024Q4	PHOBS
+608300_AR:N-acetylglutamate synthase deficiency	OMIM2024Q4	NAGS
+608310_AR:Argininosuccinic aciduria	OMIM2024Q4	ASL
+608316_.:{Coronary heart disease, susceptibility to, 2}	OMIM2024Q4	CHDS2
+608318_.:{Coronary heart disease, susceptibility to, 4}	OMIM2024Q4	CHDS4
+608331_AD:[Hyperglycinuria]##AR/DR:[Iminoglycinuria]	OMIM2024Q4	SLC36A2
+608347_AR:[Pentosuria]	OMIM2024Q4	DCXR
+608392_.:{Autoimmune disease, susceptibility to, 3}	OMIM2024Q4	AIS3
+608394_AD:Deafness, autosomal dominant 43	OMIM2024Q4	DFNA43
+608429_AR:Ehlers-Danlos syndrome, musculocontractural type 1	OMIM2024Q4	CHST14
+608458_AD:Neurodevelopmental disorder with infantile epileptic spasms	OMIM2024Q4	NCDN
+608461_AR:Steel syndrome	OMIM2024Q4	COL27A1
+608489_AR:Premature ovarian failure 8##AR:Spermatogenic failure 61	OMIM2024Q4	STAG3
+608515_AR:Chronic granulomatous disease 2, autosomal recessive	OMIM2024Q4	NCF2
+608552_AR:Arthrogryposis, renal dysfunction, and cholestasis 1##AR:Cholestasis, progressive familial intrahepatic, 12##AR:Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	OMIM2024Q4	VPS33B
+608586_AD:Keratoconus 3	OMIM2024Q4	KTCN3
+608614_AR:Bietti crystalline corneoretinal dystrophy	OMIM2024Q4	CYP4V2
+608628_AD:Intellectual developmental disorder, autosomal dominant 41##AD:Pierpont syndrome	OMIM2024Q4	TBL1XR1
+608663_AR:Scott syndrome	OMIM2024Q4	ANO6
+604349_AR:Cortical malformations, occipital	OMIM2024Q4	LAMC3
+604368_AR:Amyloidosis, primary localized cutaneous, 3	OMIM2024Q4	GPNMB
+604501_AR:?Muscular dystrophy, congenital, Davignon-Chauveau type##AR:Spinal muscular atrophy with congenital bone fractures 1	OMIM2024Q4	TRIP4
+604523_AD:Lymphatic malformation 9	OMIM2024Q4	CELSR1
+604594_AR:Rothmund-Thomson syndrome, type 3	OMIM2024Q4	CRIPT
+604610_AR:Bloom syndrome	OMIM2024Q4	BLM
+604629_AR:Amelogenesis imperfecta, type IIA2	OMIM2024Q4	MMP20
+604689_AR:Spermatogenic failure 82	OMIM2024Q4	AKAP3
+604723_AR:Combined oxidative phosphorylation deficiency 3	OMIM2024Q4	TSFM
+604846_AD:{Hypogonadotropic hypogonadism 15 with or without anosmia}	OMIM2024Q4	HS6ST1
+604900_AR:Diarrhea 7, protein-losing enteropathy type	OMIM2024Q4	DGAT1
+604918_AR:?Pontocerebellar hypoplasia, type 3	OMIM2024Q4	PCLO
+604927_AR:Congenital cataracts, facial dysmorphism, and neuropathy	OMIM2024Q4	CTDP1
+604973_AR:Immunodeficiency due to ficolin 3 deficiency	OMIM2024Q4	FCN3
+604985_AD:Spinocerebellar ataxia 5##AR:Spinocerebellar ataxia, autosomal recessive 14	OMIM2024Q4	SPTBN2
+605031_AR:Microcephaly and chorioretinopathy, autosomal recessive, 2	OMIM2024Q4	PLK4
+605073_AR:Mulibrey nanism	OMIM2024Q4	TRIM37
+605084_AR:Myopathy with extrapyramidal signs	OMIM2024Q4	MICU1
+605086_AR:Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2##AR:{Alzhieimer disease 17, susceptibility to}	OMIM2024Q4	TREM2
+605120_AD:Telangiectasia, hereditary hemorrhagic, type 5	OMIM2024Q4	GDF2
+605202_AR:Spondyloepimetaphyseal dysplasia, Genevieve type	OMIM2024Q4	NANS
+605232_AR:Neuropathy, hereditary sensory and autonomic, type II##AD:Pseudohypoaldosteronism, type IIC	OMIM2024Q4	WNK1
+605257_AR:Immunodeficiency with hyper-IgM, type 2	OMIM2024Q4	AICDA
+605267_AR:Cardiomyopathy, dilated, 2E##AD:Cardiomyopathy, hypertrophic, 17	OMIM2024Q4	JPH2
+605268_AD:Huntington disease-like 2	OMIM2024Q4	JPH3
+601676_.:Acute insulin response	OMIM2024Q4	AIR
+601719_AR:Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome##AD:Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	OMIM2024Q4	TBX4
+601726_AR:Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	OMIM2024Q4	NEUROG1
+601731_AR:AICA-ribosiduria due to ATIC deficiency	OMIM2024Q4	ATIC
+601732_AD:{Hydrocephalus, congenital, 5, susceptibility to}	OMIM2024Q4	SMARCC1
+601740_AD:Cleft palate, cardiac defects, and impaired intellectual development	OMIM2024Q4	MEIS2
+601764_AD:Seizures, benign familial infantile, 1	OMIM2024Q4	BFIS1
+601769_AR:Rickets, vitamin D-resistant, type IIA	OMIM2024Q4	VDR
+601828_AD:Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	OMIM2024Q4	NR4A2
+601855_AR:?Immunodeficiency 62	OMIM2024Q4	ARHGEF1
+601860_AR:D-bifunctional protein deficiency##AR:Perrault syndrome 1	OMIM2024Q4	HSD17B4
+601903_.:{Bone mineral density QTL 12, osteoporosis}	OMIM2024Q4	UGT2B17
+601911_AD:?Orofacial cleft 15	OMIM2024Q4	DLX4
+601916_AR:Diabetes, deafness, developmental delay, and short stature syndrome	OMIM2024Q4	MANF
+601918_AR:Premature ovarian failure 14	OMIM2024Q4	GDF9
+601990_AR:Ciliary dyskinesia, primary, 47, and lissencephaly	OMIM2024Q4	TP73
+602021_AD:Genitourinary and/or/brain malformation syndrome	OMIM2024Q4	PPP1R12A
+602072_AR:Charcot-Marie-Tooth disease, recessive intermediate D	OMIM2024Q4	COX6A1
+602075_AD:Developmental delay with dysmorphic facies and dental anomalies##AD:den Hoed-de Boer-Voisin syndrome	OMIM2024Q4	SATB1
+602087_AD:Arrhythmogenic right ventricular dysplasia 4	OMIM2024Q4	ARVD4
+602141_AR:Mitochondrial complex I deficiency, nuclear type 2	OMIM2024Q4	NDUFS8
+602144_AR:?Spermatogenic failure 21	OMIM2024Q4	BRDT
+602194_AR:CARASIL syndrome##AD:Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2##.:{Macular degeneration, age-related, 7}##.:{Macular degeneration, age-related, neovascular type}	OMIM2024Q4	HTRA1
+602243_AR:Epidermolysis bullosa simplex 7, with nephropathy and deafness##.:[Blood group, Raph]	OMIM2024Q4	CD151
+602244_AR:Systemic lupus erythematosus 16	OMIM2024Q4	DNASE1L3
+602272_AD:Corneal dystrophy, Fuchs endothelial, 3##AD:Pitt-Hopkins syndrome	OMIM2024Q4	TCF4
+602275_AD:Retinitis pigmentosa 48	OMIM2024Q4	GUCA1B
+602291_AD:Ciliary dyskinesia, primary, 43	OMIM2024Q4	FOXJ1
+602292_AR:Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	OMIM2024Q4	ECHS1
+602345_AD:?Spinocerebellar ataxia 41	OMIM2024Q4	TRPC3
+602358_AD:?Narcolepsy 1	OMIM2024Q4	HCRT
+602378_AD:Centronuclear myopathy 1##AD:Charcot-Marie-Tooth disease, axonal type 2M##AD:Charcot-Marie-Tooth disease, dominant intermediate B##AR:Lethal congenital contracture syndrome 5	OMIM2024Q4	DNM2
+602402_AD:Lymphedema-distichiasis syndrome##AD:Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	OMIM2024Q4	FOXC2
+602404_.:{Parkinson disease 3}	OMIM2024Q4	PARK3
+602421_AR:Congenital bilateral absence of vas deferens##AR:Cystic fibrosis##.:Sweat chloride elevation without CF##AD:{Bronchiectasis with or without elevated sweat chloride 1, modifier of}##.:{Hypertrypsinemia, neonatal}##AD:{Pancreatitis, hereditary}	OMIM2024Q4	CFTR
+602569_AD:Dementia, Lewy body	OMIM2024Q4	SNCB
+602623_.:{Major depressive disorder and accelerated response to antidepressant drug treatment}	OMIM2024Q4	FKBP5
+602679_AR:Spastic paraplegia 82, autosomal recessive	OMIM2024Q4	PCYT2
+602685_.:Impaired intellectual development with spasticity and tapetoretinal degeneration	OMIM2024Q4	MRST
+602727_AD:Hypopigmentation, organomegaly, and delayed myelination and development##AD:Osteopetrosis, autosomal dominant 2##AR:Osteopetrosis, autosomal recessive 4	OMIM2024Q4	CLCN7
+602736_AD:Dystonia, early-onset, and/or spastic paraplegia	OMIM2024Q4	ATP5MC3
+602748_AD:Hypogonadotropic hypogonadism 19 with or without anosmia	OMIM2024Q4	DUSP6
+300826_XLD/XLR:Holoprosencephaly 13, X-linked##XL:Mullegama-Klein-Martinez syndrome	OMIM2024Q4	STAG2
+300843_XLR:Bornholm eye disease	OMIM2024Q4	BED
+300861_XLR:Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type	OMIM2024Q4	MRXSCS
+300906_XLD:?Charcot-Marie-Tooth disease, X-linked dominant, 6	OMIM2024Q4	PDK3
+300951_XL:Trichothiodystrophy 5, nonphotosensitive	OMIM2024Q4	RNF113A
+304040_XLD:Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	OMIM2024Q4	GJB1
+305371_XLR:Anemia, X-linked, with/without neutropenia and/or platelet abnormalities##XLR:Anemia, congenital, nonspherocytic hemolytic, 9##.:Leukemia, megakaryoblastic, with or without Down syndrome, somatic##XLR:Thrombocytopenia with beta-thalassemia, X-linked##XLR:Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	OMIM2024Q4	GATA1
+309850_XLR:Brunner syndrome	OMIM2024Q4	MAOA
+310460_XLR:Myopia-1	OMIM2024Q4	MYP1
+312040_XLR:Pigmentary disorder, reticulate, with systemic manifestations, X-linked##XLR:Van Esch-O'Driscoll syndrome	OMIM2024Q4	POLA1
+313440_XL:Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders##XL:Intellectual developmental disorder, X-linked 50	OMIM2024Q4	SYN1
+314200_XL:[Thyroxine-binding globulin QTL]	OMIM2024Q4	SERPINA7
+314850_XL:McLeod syndrome	OMIM2024Q4	XK
+600053_AR:Achromatopsia 2	OMIM2024Q4	CNGA3
+600179_AD:?Choroidal dystrophy, central areolar 1##AD/AR:Cone-rod dystrophy 6##AR:Leber congenital amaurosis 1##AR:Night blindness, congenital stationary, type 1I	OMIM2024Q4	GUCY2D
+608696_.:Glaucoma 1K, primary open angle, juvenile-onset	OMIM2024Q4	GLC1K
+608697_AD/AR:Premature ovarian failure 6	OMIM2024Q4	FIGLA
+608707_AD:Holoprosencephaly 11	OMIM2024Q4	CDON
+608730_AD:Myopia 24, autosomal dominant	OMIM2024Q4	SLC39A5
+608754_AR:?Pontocerebellar hypoplasia type 2C	OMIM2024Q4	TSEN34
+608755_AR:?Pontocerebellar hypoplasia type 5##AR:Pontocerebellar hypoplasia type 2A##AR:Pontocerebellar hypoplasia type 4	OMIM2024Q4	TSEN54
+608771_AD:Impaired intellectual development and distinctive facial features with or without cardiac defects	OMIM2024Q4	MED13L
+608830_AD/AR:Leber congenital amaurosis 13	OMIM2024Q4	RDH12
+608833_AD/AR:Dyskeratosis congenita, autosomal dominant 4##AD/AR:Dyskeratosis congenita, autosomal recessive 5##AD:Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3	OMIM2024Q4	RTEL1
+608875_.:{Gene expression, variation in, QTL}	OMIM2024Q4	GEVQ1
+608903_.:{Attention deficit-hyperactivity disorder, susceptibility to, 1}	OMIM2024Q4	ADHD1
+608905_.:{Attention deficit-hyperactivity disorder, susceptibility to, 3}	OMIM2024Q4	ADHD3
+608906_.:{Attention deficit-hyperactivity disorder, susceptibility to, 4}	OMIM2024Q4	ADHD4
+608921_AD:Cone-rod dystrophy 5	OMIM2024Q4	PITPNM3
+608958_AR/SMo:Adenosine deaminase deficiency, partial##AR/SMo:Severe combined immunodeficiency due to ADA deficiency	OMIM2024Q4	ADA
+609017_.:[Blood group, Radin]##.:[Blood group, Scianna system]	OMIM2024Q4	ERMAP
+609019_AR:Biotinidase deficiency	OMIM2024Q4	BTD
+609024_AR:Osteogenesis imperfecta, type XXI	OMIM2024Q4	KDELR2
+609041_AR:Spastic paraplegia 27, autosomal recessive	OMIM2024Q4	SPG27
+609100_AD:Developmental and epileptic encephalopathy 100	OMIM2024Q4	FBXO28
+609197_AR:Glucocorticoid deficiency 3	OMIM2024Q4	GCCD3
+609255_AD:Febrile seizures, familial, 5	OMIM2024Q4	45693
+609275_AR:Martsolf syndrome 1##AR:Warburg micro syndrome 2	OMIM2024Q4	RAB3GAP2
+609291_AD:Legius syndrome	OMIM2024Q4	SPRED1
+609292_AR:Noonan syndrome 14	OMIM2024Q4	SPRED2
+609301_AR:Erythrokeratodermia variabilis et progressiva 7##AD:Olmsted syndrome 2	OMIM2024Q4	PERP
+609314_AR:Ciliary dyskinesia, primary, 24	OMIM2024Q4	RSPH1
+609378_.:{Autism susceptibility 6}	OMIM2024Q4	AUTS6
+609424_AR:?Immune dysregulation and systemic hyperinflammation syndrome	OMIM2024Q4	RC3H1
+609469_.:Nephropathy, progressive, with deafness	OMIM2024Q4	NEDE
+609502_AR:Cone-rod dystrophy 15##AR:Macular dystrophy, retinal##AR:Retinitis pigmentosa 65	OMIM2024Q4	CDHR1
+609523_AR:Sjogren-Larsson syndrome	OMIM2024Q4	ALDH3A2
+609539_AD:Coffin-Siris syndrome 6	OMIM2024Q4	ARID2
+609573_.:Photoparoxysmal response 3	OMIM2024Q4	PPR3
+609575_AR:VLCAD deficiency	OMIM2024Q4	ACADVL
+609636_AD:Alzheimer disease-10	OMIM2024Q4	AD10
+609658_AR:Oocyte/zygote/embryo maturation arrest 19	OMIM2024Q4	NLRP5
+609678_AD/Mu:?Trichotillomania##AD:Tourette syndrome	OMIM2024Q4	SLITRK1
+605312_AD:{Hyperemesis gravidarum, susceptibility to}	OMIM2024Q4	GDF15
+605336_AD/AR:{Hemolytic uremic syndrome, atypical, susceptibility to}##AD:{Macular degeneration, age-related, reduced risk of}	OMIM2024Q4	CFHR3
+605370_.:Leukemia, juvenile myelomonocytic, somatic	OMIM2024Q4	ARHGAP26
+605431_AD:Neurodevelopmental disorder with or without variable brain abnormalities	OMIM2024Q4	MAPK8IP3
+605446_AR:Cone-rod dystrophy 13##AR:Leber congenital amaurosis 6	OMIM2024Q4	RPGRIP1
+605481_AR:Microcephaly 5, primary, autosomal recessive	OMIM2024Q4	ASPM
+605485_AR:Spinocerebellar ataxia, autosomal recessive 29	OMIM2024Q4	VPS41
+605490_AR:CODAS syndrome	OMIM2024Q4	LONP1
+605522_AR:Acheiropody##AD:Laurin-Sandrow syndrome##AD:Syndactyly, type IV##AD:Triphalangeal thumb-polysyndactyly syndrome	OMIM2024Q4	LMBR1
+605526_.:Alzheimer disease 6	OMIM2024Q4	AD6
+605537_AR:Achromatopsia 7	OMIM2024Q4	ATF6
+605558_AR:?Renal hypodysplasia/aplasia 2	OMIM2024Q4	FGF20
+605585_AR:?Pontocerebellar hypoplasia, type 15	OMIM2024Q4	CDC40
+605602_AD:Cardiomyopathy, hypertrophic, 16	OMIM2024Q4	MYOZ2
+605634_AR:Congenital disorder of glycosylation, type IIf	OMIM2024Q4	SLC35A1
+605653_AR:Intellectual developmental disorder with short stature, facial anomalies, and speech defects	OMIM2024Q4	FBXL3
+605690_AD:Coffin-Siris syndrome 12	OMIM2024Q4	BICRA
+605725_AR:Charcot-Marie-Tooth disease, type 4F##AD/AR:Dejerine-Sottas disease	OMIM2024Q4	PRX
+605727_AD:Otosclerosis 2	OMIM2024Q4	OTSC2
+605749_.:Cataract 26, multiple types	OMIM2024Q4	CTPL1
+605750_AD:Exudative vitreoretinopathy 3	OMIM2024Q4	EVR3
+605754_AR:Multiple congenital anomalies-hypotonia-seizures syndrome 4	OMIM2024Q4	PIGQ
+605763_AR:Intellectual developmental disorder with neuropsychiatric features	OMIM2024Q4	SLC45A1
+605764_AR:Spinocerebellar ataxia, autosomal recessive 23	OMIM2024Q4	TDP2
+605794_AR:?Spermatogenic failure 73	OMIM2024Q4	MOV10L1
+605896_AR:Arthrogryposis, distal, type 5D	OMIM2024Q4	ECEL1
+605956_AD:Blau syndrome##Mu:{Inflammatory bowel disease 1, Crohn disease}##Mu:{Yao syndrome}	OMIM2024Q4	NOD2
+605988_AR:Omenn syndrome##AR:Severe combined immunodeficiency, Athabascan type	OMIM2024Q4	DCLRE1C
+606035_.:[Fasting insulin level quantitative trait locus 1]	OMIM2024Q4	FIQTL1
+606102_AR:Lethal congenital contractural syndrome 3	OMIM2024Q4	PIP5K1C
+606105_AR:Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	OMIM2024Q4	SLC44A1
+606119_AR:Meleda disease	OMIM2024Q4	SLURP1
+606151_AR:Bardet-Biedl syndrome 2##AR:Retinitis pigmentosa 74	OMIM2024Q4	BBS2
+606221_AD:?Immunodeficiency 84	OMIM2024Q4	IKZF3
+606230_AD:Phelan-McDermid syndrome##AD:{Schizophrenia 15}	OMIM2024Q4	SHANK3
+606236_.:Alveolar soft-part sarcoma	OMIM2024Q4	ASPSCR1
+606242_AR:Kondoh syndrome	OMIM2024Q4	KONDS
+606269_AR:Immunodeficiency, common variable, 4	OMIM2024Q4	TNFRSF13C
+602753_AR:Fibrosis of extraocular muscles, congenital, 2	OMIM2024Q4	PHOX2A
+602777_AR:Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	OMIM2024Q4	SNAPC4
+602839_DR:?Roifman-Chitayat syndrome, digenic##AD:Immunodeficiency 14A, autosomal dominant##AR:Immunodeficiency 14B, autosomal recessive	OMIM2024Q4	PIK3CD
+602851_AD:?Febrile seizures, familial, 4##AR/DD:Usher syndrome, type 2C##AR/DD:Usher syndrome, type 2C, GPR98/PDZD7 digenic	OMIM2024Q4	ADGRV1
+602887_AD:Intellectual developmental disorder, autosomal dominant 62	OMIM2024Q4	DLG4
+602911_AD:?Intellectual developmental disorder, autosomal dominant 10	OMIM2024Q4	CACNG2
+602938_AR:Bile acid conjugation defect 1	OMIM2024Q4	BAAT
+602954_.:{Breast-ovarian cancer, familial, susceptibility to, 4}	OMIM2024Q4	RAD51D
+603002_AD:Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	OMIM2024Q4	TNPO2
+603025_.:Leukemia, acute myeloid, somatic	OMIM2024Q4	PICALM
+603028_AD/SMu:{Colorectal cancer, susceptibility to}##AD:{Leprosy, susceptibility to}##.:{Mycobacterium tuberculosis, susceptibility to}	OMIM2024Q4	TLR2
+603040_.:{Nonsmall cell lung cancer}	OMIM2024Q4	TSG11
+603056_AR:Meier-Gorlin syndrome 2	OMIM2024Q4	ORC4
+603066_AR:BCARD syndrome (lysyl hydroxylase 3 deficiency)	OMIM2024Q4	PLOD3
+603115_AD:Intellectual developmental disorder, autosomal dominant 75	OMIM2024Q4	DHX9
+603178_AR:Methylmalonate semialdehyde dehydrogenase deficiency	OMIM2024Q4	ALDH6A1
+603183_AR:Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity##AD:Spastic paraplegia 12, autosomal dominant	OMIM2024Q4	RTN2
+603200_AR:MHC class II deficiency 2	OMIM2024Q4	RFXANK
+603204_AD:Epilepsy, nocturnal frontal lobe, type 2	OMIM2024Q4	ENFL2
+603335_AR:Ciliary dyskinesia, primary, 3, with or without situs inversus	OMIM2024Q4	DNAH5
+603337_AR:Spermatogenic failure 46	OMIM2024Q4	DNAH8
+603357_AR:Palmoplantar keratoderma, Nagashima type	OMIM2024Q4	SERPINB7
+603372_AD:Hyperthyroidism, familial gestational##AD:Hyperthyroidism, nonautoimmune##AR:Hypothyroidism, congenital, nongoitrous, 1##.:Thyroid adenoma, hyperfunctioning, somatic##.:Thyroid carcinoma with thyrotoxicosis, somatic	OMIM2024Q4	TSHR
+603384_AD:Intellectual developmental disorder, autosomal dominant 5	OMIM2024Q4	SYNGAP1
+603388_.:{Graves disease, susceptibility to, 2}	OMIM2024Q4	GRD2
+603422_AD:{Osteoporosis, susceptibility to}	OMIM2024Q4	PDLIM4
+603454_AR:Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly	OMIM2024Q4	CRADD
+603504_AR:Deafness, autosomal recessive 32, with or without immotile sperm	OMIM2024Q4	CDC14A
+603518_AD:Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia##AD/AR:Welander distal myopathy	OMIM2024Q4	TIA1
+603560_AR:Charcot-Marie-Tooth disease, type 4B3	OMIM2024Q4	SBF1
+603597_AD:Autoinflammatory syndrome, familial, with or without immunodeficiency	OMIM2024Q4	SOCS1
+603605_AR:Leukodystrophy, hypomyelinating, 3	OMIM2024Q4	AIMP1
+603636_AD:Hypotrichosis 12	OMIM2024Q4	RPL21
+603652_AD:Glomerulosclerosis, focal segmental, 2	OMIM2024Q4	TRPC6
+603674_AD:?Diamond-Blackfan anemia 20	OMIM2024Q4	RPS15A
+603698_AD:Charcot-Marie-Tooth disease, axonal, type 2GG	OMIM2024Q4	GBF1
+603702_AD:?Diamond-Blackfan anemia 17	OMIM2024Q4	RPS27
+603707_AR:Molybdenum cofactor deficiency A	OMIM2024Q4	MOCS1
+603722_AR:Dysautonomia, familial##AD/AR/SMu:{Medulloblastoma}	OMIM2024Q4	ELP1
+600185_AR:Fanconi anemia, complementation group D1##AD/SMu:Wilms tumor##AD/SMu:{Breast cancer, male, susceptibility to}##AD:{Breast-ovarian cancer, familial, 2}##AR:{Glioblastoma 3}##AD/AR/SMu:{Medulloblastoma}##.:{Pancreatic cancer 2}##AD/SMu:{Prostate cancer}	OMIM2024Q4	BRCA2
+600225_AD/AR:Dystonia, DOPA-responsive##AR:Hyperphenylalaninemia, BH4-deficient, B	OMIM2024Q4	GCH1
+600227_AD:Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	OMIM2024Q4	CCNF
+600279_AR:Peroxisome biogenesis disorder 12A (Zellweger)	OMIM2024Q4	PEX19
+600291_AR:{Obesity, susceptibility to, BMIQ19}	OMIM2024Q4	ADCY3
+600293_AD:Dyskinesia with orofacial involvement, autosomal dominant##AR:Dyskinesia with orofacial involvement, autosomal recessive##AR:Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	OMIM2024Q4	ADCY5
+600326_AD:Intellectual developmental disorder with impaired language and dysmorphic facies	OMIM2024Q4	DDX6
+600354_AR:Spinal muscular atrophy-1##AR:Spinal muscular atrophy-2##AR:Spinal muscular atrophy-3##AR:Spinal muscular atrophy-4	OMIM2024Q4	SMN1
+600439_AD:Optic atrophy 13 with retinal and foveal abnormalities	OMIM2024Q4	SSBP1
+600465_AR:Intellectual developmental disorder, autosomal recessive 37	OMIM2024Q4	ANK3
+600528_AR:CPT deficiency, hepatic, type IA	OMIM2024Q4	CPT1A
+600580_AD:Neurodevelopmental disorder with hypotonia and brain abnormalities##AR:Neurodevelopmental disorder with seizures and brain abnormalities	OMIM2024Q4	CLCN3
+600582_AR:Traboulsi syndrome	OMIM2024Q4	ASPH
+600593_?AD:Craniosynostosis, Adelaide type	OMIM2024Q4	CRSA
+600617_AR:Lipoid adrenal hyperplasia	OMIM2024Q4	STAR
+600692_AD:Arthrogryposis, distal, type 2B2	OMIM2024Q4	TNNT3
+600698_AD:Silver-Russell syndrome 5	OMIM2024Q4	HMGA2
+600701_AD:{Type 2 diabetes mellitus, susceptibility to}	OMIM2024Q4	HMGA1
+600727_AD:Brain malformations with or without urinary tract defects	OMIM2024Q4	NFIA
+600755_AD:{Schizophrenia, susceptibility to}	OMIM2024Q4	SYN2
+600804_AD:{Diabetes mellitus, type 2, susceptibility to}	OMIM2024Q4	MTNR1B
+600835_.:{AIDS, resistance to}	OMIM2024Q4	CXCL12
+600887_.:Endometrial carcinoma, somatic##AR:Familial adenomatous polyposis 4	OMIM2024Q4	MSH3
+600900_AR:Muscular dystrophy, limb-girdle, autosomal recessive 4	OMIM2024Q4	SGCB
+600925_.:Colon cancer, somatic##AR:Thrombocytopenia 10	OMIM2024Q4	PTPRJ
+600939_AR:Craniosynostosis and dental anomalies	OMIM2024Q4	IL11RA
+601002_AR:Anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient##AR:Glutathione synthetase deficiency	OMIM2024Q4	GSS
+601013_AD:Developmental and epileptic encephalopathy 69	OMIM2024Q4	CACNA1E
+601089_AD:Alveolar capillary dysplasia with misalignment of pulmonary veins	OMIM2024Q4	FOXF1
+601105_AR:Pycnodysostosis	OMIM2024Q4	CTSK
+601130_.:Tolbutamide poor metabolizer##AD:Warfarin sensitivity	OMIM2024Q4	CYP2C9
+601145_AR:Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	OMIM2024Q4	CSTB
+601156_AD:{Asthma, susceptibility to}##.:{HIV1, resistance to}	OMIM2024Q4	CCL11
+601175_AD:?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	OMIM2024Q4	ARL2
+601208_.:{Diabetes mellitus, insulin-dependent, 11}	OMIM2024Q4	IDDM11
+601240_AR:Cerebral creatine deficiency syndrome 2	OMIM2024Q4	GAMT
+601280_AR:Cerebellar, ocular, craniofacial, and genital syndrome	OMIM2024Q4	MAB21L1
+609720_AR:Focal segmental glomerulosclerosis 9##AR:Ventriculomegaly with cystic kidney disease	OMIM2024Q4	CRB2
+609721_AR:Heterotaxy, visceral, 8, autosomal	OMIM2024Q4	PKD1L1
+609761_AR:Deafness, autosomal recessive 28	OMIM2024Q4	TRIOBP
+609769_AR:Ichthyosis, congenital, autosomal recessive 13	OMIM2024Q4	SDR9C7
+609782_.:Aortic aneurysm, familial abdominal 2	OMIM2024Q4	AAA2
+609826_AR:Hypophosphatemic rickets with hypercalciuria	OMIM2024Q4	SLC34A3
+609883_AR:Bardet-Biedl syndrome 13##AR:Joubert syndrome 28##AR:Meckel syndrome 1	OMIM2024Q4	MKS1
+609912_AD:Li-Ghorgani-Weisz-Hubshman syndrome	OMIM2024Q4	KAT8
+609955_AD:Fibromatosis, gingival, 3	OMIM2024Q4	GINGF3
+609965_AD:Deafness, autosomal dominant 53	OMIM2024Q4	DFNA53
+609985_.:Panic disorder 3	OMIM2024Q4	PAND3
+610011_AR:Mucopolysaccharidosis, type X	OMIM2024Q4	ARSK
+610055_AR:Intellectual developmental disorder, autosomal recessive 3	OMIM2024Q4	CC2D1A
+610083_AR:?Microphthalmia/coloboma 9##AR:Microphthalmia, syndromic 15	OMIM2024Q4	TENM3
+610158_AD:Corneal dystrophy, Fuchs endothelial, 2	OMIM2024Q4	FECD2
+610162_AR/DR:{Bardet-Biedl syndrome 1, modifier of}	OMIM2024Q4	CCDC28B
+610194_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11	OMIM2024Q4	B3GALNT2
+610208_AD:{Migraine with or without aura, susceptibility to, 10}	OMIM2024Q4	MGR10
+610209_AD:{Migraine with or without aura, susceptibility to, 11}	OMIM2024Q4	MGR11
+610214_AR:Congenital disorder of glycosylation, type IIv	OMIM2024Q4	EDEM3
+610257_AR:?Halperin-Birk syndrome	OMIM2024Q4	SEC31A
+610275_AR:Glycosylphosphatidylinositol biosynthesis defect 11	OMIM2024Q4	PIGW
+610290_.:{Colorectal cancer, susceptibility to, 1}	OMIM2024Q4	GALNT12
+610320_AD:Myopia 14	OMIM2024Q4	MYP14
+610321_.:{Prostate cancer, hereditary, 7}	OMIM2024Q4	HPC7
+610341_AR:Myopia, high, with cataract and vitreoretinal degeneration	OMIM2024Q4	P3H2
+610348_AR:Atelis syndrome 1	OMIM2024Q4	SLF2
+610354_AR:CATIFA syndrome	OMIM2024Q4	RIC1
+610457_AR:Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	OMIM2024Q4	SMPD4
+610467_AR:Congenital myopathy 11	OMIM2024Q4	HACD1
+610552_AR:?Spinocerebellar ataxia, autosomal recessive 24##AR:Developmental and epileptic encephalopathy 44	OMIM2024Q4	UBA5
+610572_AR:Deafness, autosomal recessive 49	OMIM2024Q4	MARVELD2
+610608_AR:Immunodeficiency 55	OMIM2024Q4	GINS1
+606350_AR:Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	OMIM2024Q4	APTX
+606362_AR:Amelogenesis imperfecta, type IJ	OMIM2024Q4	ACP4
+606374_AR:Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	OMIM2024Q4	B3GAT3
+606384_AD:Periventricular nodular heterotopia 7	OMIM2024Q4	NEDD4L
+606409_AR:Autoimmune disease, multisystem, with facial dysmorphism	OMIM2024Q4	ITCH
+606475_AR:Methylmalonic aciduria, transient, due to transcobalamin receptor defect	OMIM2024Q4	CD320
+606551_.:Esophageal squamous cell carcinoma, somatic	OMIM2024Q4	LZTS1
+606608_AD:Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	OMIM2024Q4	YAP1
+606711_Mu:Specific language impairment QTL, 1	OMIM2024Q4	SLI1
+606718_AR:Achondrogenesis Ib##AR:Atelosteogenesis, type II##AR:De la Chapelle dysplasia##AR:Diastrophic dysplasia##AR:Diastrophic dysplasia, broad bone-platyspondylic variant##AR:Epiphyseal dysplasia, multiple, 4	OMIM2024Q4	SLC26A2
+606789_.:Fetal hemoglobin quantitative trait locus 4	OMIM2024Q4	HBFQTL4
+606806_AR:Glutamate formiminotransferase deficiency	OMIM2024Q4	FTCD
+606829_AR:Friedreich ataxia##AR:Friedreich ataxia with retained reflexes	OMIM2024Q4	FXN
+606847_AD:Treacher Collins syndrome 1	OMIM2024Q4	TCOF1
+606875_.:{Hirschsprung disease, susceptibility to, 7}	OMIM2024Q4	HSCR7
+606885_AR:Acyl-CoA dehydrogenase, short-chain, deficiency of	OMIM2024Q4	ACADS
+606933_AR:Albinism, oculocutaneous, type IA##AR:Albinism, oculocutaneous, type IB##AD:[Skin/hair/eye pigmentation 3, blue/green eyes]##AD:[Skin/hair/eye pigmentation 3, light/dark/freckling skin]##AD:{Melanoma, cutaneous malignant, susceptibility to, 8}	OMIM2024Q4	TYR
+606972_.:{Epilepsy, idiopathic generalized, susceptibility to, 2}	OMIM2024Q4	EIG2
+606980_AR:Coenzyme Q10 deficiency, primary, 4	OMIM2024Q4	COQ8A
+606985_AD:?Aniridia 2	OMIM2024Q4	ELP4
+607004_AD:Brachydactyly, type A1, B	OMIM2024Q4	BDA1B
+607024_AR:Xerosis and growth failure with immune and pulmonary dysfunction syndrome##AR:{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}	OMIM2024Q4	DBR1
+607038_AR:Deafness, autosomal recessive 22	OMIM2024Q4	OTOA
+607047_AD:Machado-Joseph disease##AD/Mu:{Parkinson disease, late-onset, susceptibility to}	OMIM2024Q4	ATXN3
+607088_AR:Neuronopathy, distal hereditary motor, autosomal recessive 3	OMIM2024Q4	SMAR
+607116_.:Alzheimer disease 8	OMIM2024Q4	AD8
+607117_AR:Microcephaly 1, primary, autosomal recessive	OMIM2024Q4	MCPH1
+607137_AD:Muscular dystrophy, limb-girdle, autosomal dominant 3	OMIM2024Q4	HNRNPDL
+607201_AD:Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	OMIM2024Q4	HNRNPR
+607209_AR:?Immunodeficiency 89 and autoimmunity	OMIM2024Q4	CARD10
+607221_.:Epilepsy, partial, with pericentral spikes	OMIM2024Q4	EPPS
+607252_AD:{Schizophrenia}	OMIM2024Q4	APOL2
+607292_AR:Cone-rod dystrophy 10##AR:Retinitis pigmentosa 35	OMIM2024Q4	SEMA4A
+603811_AR:Nestor-Guillermo progeria syndrome	OMIM2024Q4	BANF1
+603850_AD/AR:Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1##AD:Optic atrophy 5	OMIM2024Q4	DNM1L
+603904_AD:?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities##AD:Dementia, familial British##AD:Dementia, familial Danish	OMIM2024Q4	ITM2B
+603921_AR:Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	OMIM2024Q4	SUCLA2
+603941_AR:Thiamine-responsive megaloblastic anemia syndrome	OMIM2024Q4	SLC19A2
+603951_AD:{Hypertension, diastolic, resistance to}	OMIM2024Q4	KCNMB1
+603952_AR:Tan-Almurshedi syndrome	OMIM2024Q4	DRG1
+603964_AD:Deafness, autosomal dominant 16	OMIM2024Q4	DFNA16
+603967_AR:Congenital myopathy 22A, classic##AR:Congenital myopathy 22B, severe fetal##AD:Hyperkalemic periodic paralysis##AD:Hypokalemic periodic paralysis, type 2##AR:Myasthenic syndrome, congenital, 16##AD:Myotonia congenita, atypical, acetazolamide-responsive##AD:Paramyotonia congenita	OMIM2024Q4	SCN4A
+604011_AD:?Immunodeficiency 13##AD:Cone-rod dystrophy 24	OMIM2024Q4	UNC119
+604067_AR:Prolonged electroretinal response suppression 1	OMIM2024Q4	RGS9
+604095_AD:Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant##AR:Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive##.:[Hair morphology 1, hair thickness]	OMIM2024Q4	EDAR
+604123_AR:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	OMIM2024Q4	RNASEH1
+604127_AR:Cousin syndrome	OMIM2024Q4	TBX15
+604154_.:{Alzheimer disease-15}	OMIM2024Q4	AD15
+604194_AR:Ichthyosis prematurity syndrome	OMIM2024Q4	SLC27A4
+604272_AR:Mitochondrial complex IV deficiency, nuclear type 2##AD:Myopia 6	OMIM2024Q4	SCO2
+604288_.:Cardiomyopathy, dilated, 1H	OMIM2024Q4	CMD1H
+604296_AR:Hyperoxaluria, primary, type II	OMIM2024Q4	GRHPR
+604395_.:Colorectal cancer, hereditary nonpolyposis, type 7##.:Colorectal cancer, somatic##AD/SMu:{Endometrial cancer, susceptibility to}	OMIM2024Q4	MLH3
+604407_AR:Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction	OMIM2024Q4	LETM1
+604434_AD:Ichthyosis with erythrokeratoderma	OMIM2024Q4	KLK11
+604459_.:{Asthma susceptibility 5}	OMIM2024Q4	IRAK3
+604488_AD:Cardiomyopathy, hypertrophic, 25##AR:Muscular dystrophy, limb-girdle, autosomal recessive 7	OMIM2024Q4	TCAP
+604490_AR:Spastic ataxia, Charlevoix-Saguenay type	OMIM2024Q4	SACS
+604515_AR:?Agammaglobulinemia 4	OMIM2024Q4	BLNK
+604546_AR:Spondyloepimetaphyseal dysplasia, sponastrime type	OMIM2024Q4	TONSL
+604566_AR:Congenital disorder of glycosylation, type Ic	OMIM2024Q4	ALG6
+604604_AR:Birk-Landau-Perez syndrome	OMIM2024Q4	SLC30A9
+604624_AD:?Neuronopathy, distal hereditary motor, autosomal dominant 4	OMIM2024Q4	HSPB3
+604633_AR:Cutis laxa, autosomal recessive, type IB	OMIM2024Q4	EFEMP2
+604638_AD:Glomerulosclerosis, focal segmental, 1	OMIM2024Q4	ACTN4
+604712_AR:Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)##AR:Mitochondrial DNA depletion syndrome 8B (MNGIE type)##AD:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5##AR:Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	OMIM2024Q4	RRM2B
+604733_AR:Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures##AR:Parkinsonism-dystonia 3, childhood-onset	OMIM2024Q4	WARS2
+601404_AR:Amelogenesis imperfecta, hypomaturation type, IIA6	OMIM2024Q4	GPR68
+601411_.:Cardiomyopathy, dilated, 1L##AR:Muscular dystrophy, limb-girdle, autosomal recessive 6	OMIM2024Q4	SGCD
+601513_AD:Developmental and epileptic encephalopathy 47	OMIM2024Q4	FGF12
+601565_AD:Immunodeficiency 32A, mycobacteriosis, autosomal dominant##AR:Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive	OMIM2024Q4	IRF8
+601573_AD:Weaver syndrome	OMIM2024Q4	EZH2
+601603_AR:Immunodeficiency 81	OMIM2024Q4	LCP2
+601604_AR:Immunodeficiency 30	OMIM2024Q4	IL12RB1
+601621_AD:Ulnar-mammary syndrome	OMIM2024Q4	TBX3
+601623_AD:Angelman syndrome	OMIM2024Q4	UBE3A
+601666_.:{Diabetes mellitus, insulin-dependent, 15}	OMIM2024Q4	IDDM15
+601688_AR:?Digital clubbing, isolated congenital##AR:Cranioosteoarthropathy##AR:Hypertrophic osteoarthropathy, primary, autosomal recessive 1	OMIM2024Q4	HPGD
+601725_AD:Developmental and epileptic encephalopathy 72	OMIM2024Q4	NEUROD2
+601743_AD:Amyloidosis, primary localized cutaneous, 1	OMIM2024Q4	OSMR
+601758_AR:Peroxisome biogenesis disorder 3A (Zellweger)##AR:Peroxisome biogenesis disorder 3B	OMIM2024Q4	PEX12
+601763_AR:?Caspase 8 lymphadenopathy syndrome##.:Hepatocellular carcinoma, somatic##AD/SMu:{Breast cancer, protection against}##AD/SMu:{Lung cancer, protection against}	OMIM2024Q4	CASP8
+601771_AR:Anterior segment dysgenesis 6, multiple subtypes##AR:Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	OMIM2024Q4	CYP1B1
+601785_AR:Congenital disorder of glycosylation, type Ia	OMIM2024Q4	PMM2
+601843_AR:Thyroid dyshormonogenesis 1	OMIM2024Q4	SLC5A5
+601982_.:Renal cell carcinoma, clear cell, somatic	OMIM2024Q4	OGG1
+602037_AR:{?Epidermodysplasia verruciformis, susceptibility to, 4}	OMIM2024Q4	RHOH
+602086_AD:Arrhythmogenic right ventricular dysplasia 3	OMIM2024Q4	ARVD3
+602125_AR:Mitochondrial complex IV deficiency, nuclear type 3	OMIM2024Q4	COX10
+602153_AD:Monilethrix	OMIM2024Q4	KRT81
+602183_AR:Spondylo-megaepiphyseal-metaphyseal dysplasia	OMIM2024Q4	NKX3-2
+602195_AD:Charcot-Marie-Tooth disease, axonal, type 2F##AD:Neuronopathy, distal hereditary motor, autosomal dominant 3	OMIM2024Q4	HSPB1
+602202_AR:Congenital disorder of glycosylation, type Ir	OMIM2024Q4	DDOST
+602229_AD:PCWH syndrome##AD:Waardenburg syndrome, type 2E, with or without neurologic involvement##AD:Waardenburg syndrome, type 4C	OMIM2024Q4	SOX10
+602238_AR:Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	OMIM2024Q4	EXOSC2
+602242_AD:Hypocalciuric hypercalcemia, type III	OMIM2024Q4	AP2S1
+602298_AD:Charcot-Marie-Tooth disease, type 2B	OMIM2024Q4	RAB7A
+602322_AD:Dyskeratosis congenita, autosomal dominant 1##AD:Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2	OMIM2024Q4	TERC
+610657_AR:Ritscher-Schinzel syndrome 1##AD:Spastic paraplegia 8, autosomal dominant	OMIM2024Q4	WASHC5
+610690_AR:3-hydroxyisobutryl-CoA hydrolase deficiency	OMIM2024Q4	HIBCH
+610771_AD:Parenti-Mignot neurodevelopmental syndrome	OMIM2024Q4	CHD5
+610827_AR:Microcephaly 10, primary, autosomal recessive	OMIM2024Q4	ZNF335
+610928_AD:Vesicoureteral reflux 3	OMIM2024Q4	SOX17
+610931_.:{Autoimmune thyroid disease, susceptibility to, 3}	OMIM2024Q4	ZFAT
+610937_AR:?COACH syndrome 3##AR:Joubert syndrome 7##AR:Meckel syndrome 5	OMIM2024Q4	RPGRIP1L
+610957_AR:Myopathy, lactic acidosis, and sideroblastic anemia 2	OMIM2024Q4	YARS2
+610982_AD:Charcot-Marie-Tooth disease, dominant intermediate E##.:Glomerulosclerosis, focal segmental, 5	OMIM2024Q4	INF2
+611003_.:{Smoking as a quantitative trait locus 1}	OMIM2024Q4	SQTL1
+611006_AR:Multiple mitochondrial dysfunctions syndrome 5	OMIM2024Q4	ISCA1
+611031_AD:Episodic kinesigenic dyskinesia 2	OMIM2024Q4	EKD2
+611046_.:{Mycobacterium tuberculosis, susceptibility to, 2}	OMIM2024Q4	MTBS2
+611082_.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	MIAT
+611096_AR:Intellectual developmental disorder, autosomal recessive 10/20	OMIM2024Q4	MRT10
+611139_.:{Coronary heart disease, susceptibility to, 8}	OMIM2024Q4	CHDS8
+611145_AD:{Diabetes mellitus, noninsulin-dependent, susceptibility to}	OMIM2024Q4	SLC30A8
+611152_.:{Alzheimer disease-13}	OMIM2024Q4	AD13
+611184_AD:Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema##AR:Lymphatic malformation 6##AR:[ER blood group system]	OMIM2024Q4	PIEZO1
+611192_AD:KBG syndrome	OMIM2024Q4	ANKRD11
+611254_AR:?Al-Gazali-Bakalinova syndrome##AR:?Hydrolethalus syndrome 2##AR:Acrocallosal syndrome##AR:Joubert syndrome 12	OMIM2024Q4	KIF7
+611278_AR:Cholestasis, progressive familial intrahepatic, 8	OMIM2024Q4	KIF12
+611318_AD:Nizon-Isidor syndrome	OMIM2024Q4	MED12L
+611458_AR:GM1-gangliosidosis, type I##AR:GM1-gangliosidosis, type II##AR:GM1-gangliosidosis, type III##AR:Mucopolysaccharidosis type IVB (Morquio)	OMIM2024Q4	GLB1
+611472_AD:Intellectual developmental disorder, autosomal dominant 1	OMIM2024Q4	MBD5
+611483_AR:Microcephaly, epilepsy, and diabetes syndrome 2	OMIM2024Q4	YIPF5
+611495_AR:Ichthyosis, congenital, autosomal recessive 5	OMIM2024Q4	CYP4F22
+611499_AR:Mucopolysaccharidosis VII	OMIM2024Q4	GUSB
+611514_AR:Zaki syndrome	OMIM2024Q4	WLS
+611574_AD:Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia	OMIM2024Q4	SGMS2
+611655_AR:Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities	OMIM2024Q4	PGAP1
+611672_AR:Folate malabsorption, hereditary	OMIM2024Q4	SLC46A1
+607324_.:Polydactyly, postaxial, type A3	OMIM2024Q4	PAPA3
+607329_Mu:{Hypertension, essential, susceptibility to, 3}	OMIM2024Q4	HYT3
+607365_AR:Hypotrichosis 7##AR:Woolly hair, autosomal recessive 2 with or without hypotrichosis	OMIM2024Q4	LIPH
+607379_.:Meningioma, NF2-related, somatic##.:Schwannomatosis, somatic##AD:Schwannomatosis, vestibular	OMIM2024Q4	NF2
+607407_AD:Hypotonia, ataxia, and delayed development syndrome	OMIM2024Q4	EBF3
+607411_AR:{Patent ductus arteriosus, susceptibility to}	OMIM2024Q4	PDA1
+607429_AR:Coenzyme Q10 deficiency, primary, 2	OMIM2024Q4	PDSS1
+607434_AR:Jaberi-Elahi syndrome	OMIM2024Q4	GTPBP2
+607461_AR:Dyggve-Melchior-Clausen disease##AR:Smith-McCort dysplasia	OMIM2024Q4	DYM
+607462_AD:Congenital hypotonia, epilepsy, developmental delay, and digital anomalies##AD:Dentatorubral-pallidoluysian atrophy	OMIM2024Q4	ATN1
+607498_AD:{Migraine with or without aura, susceptibility to, 3}	OMIM2024Q4	MGR3
+607501_AD:{Migraine without aura, susceptibility to, 4}	OMIM2024Q4	MGR4
+607556_AD:Ablepharon-macrostomia syndrome##AD:Barber-Say syndrome##AR:Focal facial dermal dysplasia 3, Setleis type	OMIM2024Q4	TWIST2
+607613_AR:?Galloway-Mowat syndrome 8##AR:Nephrotic syndrome, type 18	OMIM2024Q4	NUP133
+607622_AD:Porokeratosis 1, multiple types	OMIM2024Q4	PMVK
+607670_AR:?Spermatogenic failure 93	OMIM2024Q4	STK33
+607671_AD:Dystonia 13, torsion	OMIM2024Q4	DYT13
+607687_.:{High density lipoprotein cholesterol, low serum, 3}	OMIM2024Q4	HDLC3
+607751_AD:[Phenylthiocarbamide tasting]	OMIM2024Q4	TAS2R38
+607788_.:Factor V and factor VIII, combined deficiency of	OMIM2024Q4	MCFD2
+607844_AD:Buschke-Ollendorff syndrome##AD:Osteopoikilosis with or without melorheostosis	OMIM2024Q4	LEMD3
+607902_AR:Muscular dystrophy, limb-girdle, autosomal recessive 29	OMIM2024Q4	SNUPN
+607965_.:{Systemic lupus erythematosus with nephritis, susceptibility to, 1}	OMIM2024Q4	SLEN1
+608074_AR:?Microcephaly 29, primary, autosomal recessive	OMIM2024Q4	PDCD6IP
+608098_.:Periventricular nodular heterotopia 3	OMIM2024Q4	PVNH3
+608132_AR:?Retinitis pigmentosa 51##AR:Bardet-Biedl syndrome 8	OMIM2024Q4	TTC8
+608163_AR:Neurodevelopmental disorder with seizures and brain atrophy	OMIM2024Q4	EXOC7
+608177_SMu:Chondrosarcoma##AD:Exostoses, multiple, type 1	OMIM2024Q4	EXT1
+608207_.:{Kala-azar, susceptibility to, 1}	OMIM2024Q4	KAZA1
+608219_AR:Deafness, autosomal recessive 38	OMIM2024Q4	DFNB38
+608245_AD:?Hypotrichosis 13	OMIM2024Q4	KRT71
+608264_AR:Deafness, autosomal recessive 40	OMIM2024Q4	DFNB40
+608375_AR:Parkinson disease 19a, juvenile-onset##AR:Parkinson disease 19b, early-onset	OMIM2024Q4	DNAJC6
+608396_.:{?Autism susceptibility 16}	OMIM2024Q4	SLC9A9
+604824_AR:?Tumoral calcinosis, hyperphosphatemic, familial, 3	OMIM2024Q4	KL
+604878_AR:Agenesis of the corpus callosum with peripheral neuropathy##AD:Charcot-Marie-Tooth disease, axonal, type 2II	OMIM2024Q4	SLC12A6
+604882_AR:Diarrhea 4, malabsorptive, congenital	OMIM2024Q4	NEUROG3
+604909_AD:Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	OMIM2024Q4	CNOT2
+604917_AD:Holoprosencephaly 12, with or without pancreatic agenesis##AD:Vissers-Bodmer syndrome	OMIM2024Q4	CNOT1
+605000_AR:Immunodeficiency 8	OMIM2024Q4	CORO1A
+605025_AR:Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	OMIM2024Q4	ITGA3
+605060_AR:[Sedoheptulokinase deficiency]	OMIM2024Q4	SHPK
+605078_AD:Amyotrophic lateral sclerosis 10, with or without FTD##AD:Frontotemporal lobar degeneration, TARDBP-related	OMIM2024Q4	TARDBP
+605080_AR:Achromatopsia 3	OMIM2024Q4	CNGB3
+605178_AR:Ciliary dyskinesia, primary, 33	OMIM2024Q4	GAS8
+605201_.:High density lipoprotein cholesterol level QTL14	OMIM2024Q4	HDLCQ14
+605210_.:{Schizophrenia 9, susceptibility to}	OMIM2024Q4	DISC1
+605262_AR:Charcot-Marie-Tooth disease, type 4D	OMIM2024Q4	NDRG1
+605286_.:{Diabetes mellitus, noninsulin-dependent 1}	OMIM2024Q4	CAPN10
+605313_AR:Thrombocytopenia-absent radius syndrome	OMIM2024Q4	RBM8A
+605380_AD:Hypophosphatemic rickets, autosomal dominant##AR:Tumoral calcinosis, hyperphosphatemic, familial, 2	OMIM2024Q4	FGF23
+605452_AD:Dyschromatosis universalis hereditaria 3##AD:Microphthalmia/coloboma 7##AD:Pseudohyperkalemia, familial, 2, due to red cell leak##.:[Blood group, Langereis system]	OMIM2024Q4	ABCB6
+605510_AR:?Inflammatory bowel disease (infantile ulcerative colitis) 31	OMIM2024Q4	IL37
+605516_AR:Deafness, autosomal recessive 12##AR/DR:Usher syndrome, type 1D##AR/DR:Usher syndrome, type 1D/F digenic##AD:{Pituitary adenoma 5, multiple types}	OMIM2024Q4	CDH23
+605517_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	OMIM2024Q4	B4GAT1
+605518_AR:Myoglobinuria, acute recurrent, autosomal recessive	OMIM2024Q4	LPIN1
+605544_.:Fibromatosis, gingival, 2	OMIM2024Q4	GINGF2
+605546_AR:Bleeding disorder, platelet-type, 11	OMIM2024Q4	GP6
+605555_AD/SMu:Pituitary adenoma 1, multiple types##AD/SMu:Pituitary adenoma predisposition	OMIM2024Q4	AIP
+605557_AD:Cardiomyopathy, dilated, 1LL##AD:Left ventricular noncompaction 8	OMIM2024Q4	PRDM16
+605565_AD:{Diabetes mellitus, noninsulin-dependent, susceptibility to}##AD:{Hypertension, insulin resistance-related, susceptibility to}	OMIM2024Q4	RETN
+605590_.:Myelodysplastic syndrome, somatic	OMIM2024Q4	SF3B1
+605692_AD:{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}	OMIM2024Q4	TRPM7
+605716_AD:Developmental and epileptic encephalopathy 112	OMIM2024Q4	KCNH5
+605748_AD:?Hypercarotenemia and vitamin A deficiency, autosomal dominant	OMIM2024Q4	BCO1
+605789_AD:Symmetric circumferential skin creases, congenital, 2	OMIM2024Q4	MAPRE2
+602427_AD/AR:Spondylocostal dysostosis 5	OMIM2024Q4	TBX6
+602432_AD/AR:Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia##AD:Glaucoma 1, open angle, E##.:{Glaucoma, normal tension, susceptibility to}	OMIM2024Q4	OPTN
+602519_AD:Hao-Fountain syndrome	OMIM2024Q4	USP7
+602537_AD:Vitreoretinopathy, neovascular inflammatory	OMIM2024Q4	CAPN5
+602538_AD:Developmental and epileptic encephalopathy 97	OMIM2024Q4	CELF2
+602544_.:Adenocarcinoma of lung, somatic##.:Ovarian cancer, somatic##AR:Parkinson disease, juvenile, type 2	OMIM2024Q4	PRKN
+602575_AD:Focal segmental glomerulosclerosis 10##AD:Nail-patella syndrome	OMIM2024Q4	LMX1B
+602618_AD:Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	OMIM2024Q4	CTBP1
+602630_AD:Holoprosencephaly 4	OMIM2024Q4	TGIF1
+602734_AD:Deafness, autosomal dominant 76	OMIM2024Q4	PLS1
+602759_.:{Prostate cancer, susceptibility to}	OMIM2024Q4	PCAP
+602774_AR:Fanconi anemia, complementation group O##.:{Breast-ovarian cancer, familial, susceptibility to, 3}	OMIM2024Q4	RAD51C
+602840_AR:Lymphoproliferative syndrome 3	OMIM2024Q4	CD70
+602855_.:{Myocardial infarction, susceptibility to}	OMIM2024Q4	PSMA6
+602858_AR:Smith-Lemli-Opitz syndrome	OMIM2024Q4	DHCR7
+602860_.:Colorectal cancer, somatic##AR:Mosaic variegated aneuploidy syndrome 1##AD:[Premature chromatid separation trait]	OMIM2024Q4	BUB1B
+602918_AR:?Rajab interstitial lung disease with brain calcifications 2	OMIM2024Q4	FARSA
+602935_.:{Drug addiction, susceptibility to}	OMIM2024Q4	FAAH
+602937_AD:Atrial septal defect 8##AD:Ventricular septal defect 2	OMIM2024Q4	CITED2
+603010_AR:Deafness, autosomal recessive 17	OMIM2024Q4	DFNB17
+603023_AD:Immunodeficiency, common variable, 13	OMIM2024Q4	IKZF1
+603029_.:{HIV1 infection, resistance to}##AD/AR:{Immunodeficiency 83, susceptibility to viral infections}	OMIM2024Q4	TLR3
+603031_.:{Legionnaire disease, susceptibility to}##AD:{Melioidosis, susceptibility to}##.:{Systemic lupus erythematosus, resistance to}##.:{Systemic lupus erythematosus, susceptibility to, 1}	OMIM2024Q4	TLR5
+603073_AD:Holoprosencephaly 5	OMIM2024Q4	ZIC2
+603107_AD:Developmental delay with variable intellectual impairment and behavioral abnormalities	OMIM2024Q4	TCF20
+603131_AR:Multiple mitochondrial dysfunctions syndrome 6	OMIM2024Q4	PMPCB
+603155_AR:Choanal atresia and lymphedema	OMIM2024Q4	PTPN14
+603201_AR:Cholestasis, benign recurrent intrahepatic, 2##AR:Cholestasis, progressive familial intrahepatic 2	OMIM2024Q4	ABCB11
+603220_AD:Pulmonary hypertension, primary, 4	OMIM2024Q4	KCNK3
+603248_AR:Acromesomelic dysplasia 3##AD:Brachydactyly, type A1, D##AD:Brachydactyly, type A2	OMIM2024Q4	BMPR1B
+603263_AR:Hyperchlorhidrosis, isolated	OMIM2024Q4	CA12
+603295_AD:Pulmonary hypertension, primary, 2	OMIM2024Q4	SMAD9
+603339_AR:Ciliary dyskinesia, primary, 7, with or without situs inversus	OMIM2024Q4	DNAH11
+603356_AD:?Deafness, autosomal dominant 66	OMIM2024Q4	CD164
+603368_AR:?Microcephaly 12, primary, autosomal recessive	OMIM2024Q4	CDK6
+611720_AD:Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	OMIM2024Q4	IRF2BPL
+611892_.:{Aneurysm, intracranial berry, 6}	OMIM2024Q4	ANIB6
+611893_AR:Leukodystrophy and acquired microcephaly with or without dystonia	OMIM2024Q4	PLEKHG2
+611945_AD:Spastic paraplegia 37, autosomal dominant	OMIM2024Q4	SPG37
+611958_.:{Prostate cancer, hereditary, 14}	OMIM2024Q4	HPC14
+611998_AD:Hypertriglyceridemia 2	OMIM2024Q4	CREB3L3
+612014_AD/AR:Nephronophthisis 12##AR:Short-rib thoracic dysplasia 4 with or without polydactyly	OMIM2024Q4	TTC21B
+612048_AD:Arrhythmogenic right ventricular dysplasia 5##AD:Auditory neuropathy, autosomal dominant 3##AD:Emery-Dreifuss muscular dystrophy 7, AD	OMIM2024Q4	TMEM43
+612078_AR:Brittle cornea syndrome 1	OMIM2024Q4	ZNF469
+612107_AD:Porokeratosis 8, disseminated superficial actinic type	OMIM2024Q4	SLC17A9
+612113_.:[Bone mineral density QTL 10]	OMIM2024Q4	BMND10
+612121_AR:Ichthyosis, congenital, autosomal recessive 10	OMIM2024Q4	PNPLA1
+612165_AR:Retinitis pigmentosa 29	OMIM2024Q4	RP29
+612231_.:{Colorectal cancer, susceptibility to, 6}	OMIM2024Q4	CRCS6
+612277_AR:Geleophysic dysplasia 1	OMIM2024Q4	ADAMTSL2
+612279_.:Generalized epilepsy with febrile seizures plus, type 6	OMIM2024Q4	GEFSP6
+612288_.:{Inflammatory bowel disease 20}	OMIM2024Q4	IBD20
+612343_.:[Musical aptitude QTL 1]	OMIM2024Q4	MUSQTL1
+612353_AD:Porokeratosis 6, multiple types	OMIM2024Q4	POROK6
+612383_AR:Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	OMIM2024Q4	MED11
+612421_.:Alopecia, androgenetic, 3	OMIM2024Q4	AGA3
+612456_AD:?Bleeding disorder, vascular-type	OMIM2024Q4	APOLD1
+612471_AR:[Beta-aminoisobutyric acid, urinary excretion of]	OMIM2024Q4	AGXT2
+612503_AR:?Hypertrichosis, congenital generalized, with gingival hyperplasia	OMIM2024Q4	ABCA5
+612558_.:{Leukemia, chronic lymphocytic susceptibility to, 4}	OMIM2024Q4	CLLS4
+612574_.:[Mean platelet volume QTL2]	OMIM2024Q4	MPVQTL2
+612575_.:[Mean platelet volume QTL3]	OMIM2024Q4	MPVQTL3
+612596_.:{Multiple sclerosis, susceptibility to, 4}	OMIM2024Q4	MS4
+608435_AD:Noonan syndrome 11	OMIM2024Q4	MRAS
+608532_AR:Khan-Khan-Katsanis syndrome	OMIM2024Q4	NCAPG2
+608539_AR:Nephronophthisis 7	OMIM2024Q4	GLIS2
+608543_AD:{Schizophrenia 12}	OMIM2024Q4	SCZD12
+608568_AD:?Peripheral neuropathy, myopathy, hoarseness, and hearing loss##AD:Deafness, autosomal dominant 4A	OMIM2024Q4	MYH14
+608633_.:{Sepsis, susceptibility to}	OMIM2024Q4	CASP12
+608645_AD:Deafness, autosomal dominant 31	OMIM2024Q4	DFNA31
+608656_.:{Prostate cancer, susceptibility to, 3}	OMIM2024Q4	HPC3
+608675_AR:Congenital disorder of glycosylation with defective fucosylation 2	OMIM2024Q4	FCSK
+608735_AR:Ehlers-Danlos syndrome, spondylodysplastic type, 3	OMIM2024Q4	SLC39A13
+608753_AR:Pontocerebellar hypoplasia type 2B	OMIM2024Q4	TSEN2
+608780_AR:Trichothiodystrophy 3, photosensitive	OMIM2024Q4	GTF2H5
+608796_.:Moyamoya disease 3	OMIM2024Q4	MYMY3
+608852_.:{Pulmonary function}	OMIM2024Q4	PLF
+608860_AR:?Oocyte/zygote/embryo maturation arrest 11	OMIM2024Q4	ASTL
+608862_AR:Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	OMIM2024Q4	NAXE
+608965_AR:Cone-rod synaptic disorder, congenital nonprogressive	OMIM2024Q4	CABP4
+608977_AR:3-methylglutaconic aciduria, type V	OMIM2024Q4	DNAJC19
+609058_AR:Methylmalonic aciduria, mut(0) type	OMIM2024Q4	MMUT
+609059_AR:Neutral lipid storage disease with myopathy	OMIM2024Q4	PNPLA2
+609187_AR:Glutaric aciduria III	OMIM2024Q4	SUGCT
+609196_AR:Glucocorticoid deficiency 2	OMIM2024Q4	MRAP
+609271_.:Keratoconus 4	OMIM2024Q4	KTCN4
+609346_AR:Retinitis pigmentosa 77	OMIM2024Q4	REEP6
+609369_AD:Neuropathy, hereditary sensory, type IF	OMIM2024Q4	ATL3
+609373_AD:Diets-Jongmans syndrome	OMIM2024Q4	KDM3B
+605837_AR:Intellectual developmental disorder, autosomal recessive 38##AR:[Skin/hair/eye pigmentation 1, blond/brown hair]##AR:[Skin/hair/eye pigmentation 1, blue/nonblue eyes]	OMIM2024Q4	HERC2
+605841_.:Narcolepsy 2	OMIM2024Q4	NRCLP2
+605879_AD:?Dystonia 34, myoclonic##AD:Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	OMIM2024Q4	KCNN2
+605924_AR:Galloway-Mowat syndrome 6##AR:Microcephaly, growth deficiency, seizures, and brain malformations	OMIM2024Q4	WDR4
+605967_AD:Acropectoral syndrome	OMIM2024Q4	ACRPS
+605978_AR:Choreoacanthocytosis	OMIM2024Q4	VPS13A
+605983_AD:Houge-Janssens syndrome 2	OMIM2024Q4	PPP2R1A
+605998_AR:Neutropenia, severe congenital 3, autosomal recessive	OMIM2024Q4	HAX1
+606118_AR:Hermansky-Pudlak syndrome 3	OMIM2024Q4	HPS3
+606145_AR:Arterial tortuosity syndrome	OMIM2024Q4	SLC2A10
+606180_AR:Pontocerebellar hypoplasia, type 1D	OMIM2024Q4	EXOSC9
+606227_AR:Microphthalmia, isolated 5##.:Nanophthalmos 2	OMIM2024Q4	MFRP
+606238_AD:Thrombocytopenia, autosomal dominant, 7	OMIM2024Q4	IKZF5
+606252_.:{Bacteremia, protection against}##.:{Malaria, protection against}##.:{Tuberculosis, protection against}	OMIM2024Q4	TIRAP
+606268_AR:Ectodermal dysplasia 16 (odontoonychodermal dysplasia)##AR:Schopf-Schulz-Passarge syndrome##AD/AR:Tooth agenesis, selective, 4	OMIM2024Q4	WNT10A
+606272_AR:Cystinosis, atypical nephropathic##AR:Cystinosis, late-onset juvenile or adolescent nephropathic##AR:Cystinosis, nephropathic##AR:Cystinosis, ocular nonnephropathic	OMIM2024Q4	CTNS
+606282_AD:Deafness, autosomal dominant 24	OMIM2024Q4	DFNA24
+606305_AR:Neurodevelopmental disorder with poor growth and skeletal anomalies	OMIM2024Q4	PCDHGC4
+606448_AR:?Glucocorticoid deficiency 5	OMIM2024Q4	TXNRD2
+606463_AR:Gaucher disease, perinatal lethal##AR:Gaucher disease, type I##AR:Gaucher disease, type II##AR:Gaucher disease, type III##AR:Gaucher disease, type IIIC##AD:{Lewy body dementia, susceptibility to}##AD/Mu:{Parkinson disease, late-onset, susceptibility to}	OMIM2024Q4	GBA1
+606471_AR:?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2##AR:?Dyskeratosis congenita, autosomal recessive 1##AD:?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	OMIM2024Q4	NOP10
+606478_AR:?Cerebroretinal microangiopathy with calcifications and cysts 3##AD:?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8##AD:Tumor predisposition syndrome 3	OMIM2024Q4	POT1
+606489_AR:Pontocerebellar hypoplasia, type 1B	OMIM2024Q4	EXOSC3
+606494_AR:Developmental and epileptic encephalopathy 15##AR:Intellectual developmental disorder, autosomal recessive 12	OMIM2024Q4	ST3GAL3
+606544_AR:Combined oxidative phosphorylation deficiency 39	OMIM2024Q4	GFM2
+606557_AD:Dias-Logan syndrome	OMIM2024Q4	BCL11A
+606596_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5##AR:Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	OMIM2024Q4	FKRP
+606598_AD/AR:Charcot-Marie-Tooth disease, axonal, type 2K##AR:Charcot-Marie-Tooth disease, axonal, with vocal cord paresis##AR:Charcot-Marie-Tooth disease, recessive intermediate, A##AR:Charcot-Marie-Tooth disease, type 4A	OMIM2024Q4	GDAP1
+606630_AR:Cone-rod synaptic disorder syndrome, congenital nonprogressive	OMIM2024Q4	RIMS2
+606639_AR:Combined oxidative phosphorylation deficiency 1	OMIM2024Q4	GFM1
+606643_.:[Body mass index QTL2]	OMIM2024Q4	BMIQ2
+606652_AR:T-cell lymphoma, subcutaneous panniculitis-like	OMIM2024Q4	HAVCR2
+606681_AD:Sotos syndrome	OMIM2024Q4	NSD1
+606731_AD:Deafness, autosomal dominant 67	OMIM2024Q4	OSBPL2
+606754_AD:?Chilblain lupus 2##AR:Aicardi-Goutieres syndrome 5	OMIM2024Q4	SAMHD1
+606771_.:{Adiponectin, serum level of, QTL3}	OMIM2024Q4	ADIPQTL3
+603385_AR:Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia	OMIM2024Q4	NAE1
+603409_AR:Nail disorder, nonsyndromic congenital, 1	OMIM2024Q4	FZD6
+603470_AR:Citrullinemia	OMIM2024Q4	ASS1
+603474_AD:Diamond-Blackfan anemia 1	OMIM2024Q4	RPS19
+603531_AR:MEDNIK syndrome	OMIM2024Q4	AP1S1
+603550_AD:?Cardiomyopathy, dilated, 1J##AD:Deafness, autosomal dominant 10	OMIM2024Q4	EYA4
+603575_AR:Ciliary dyskinesia, primary, 48, without situs inversus	OMIM2024Q4	NME5
+603576_AR:Night blindness, congenital stationary (complete), 1C, autosomal recessive	OMIM2024Q4	TRPM1
+603646_AR:Mitochondrial complex IV deficiency, nuclear type 6	OMIM2024Q4	COX15
+603648_AR:Mitochondrial complex IV deficiency, nuclear type 23	OMIM2024Q4	COX11
+603690_AR:Huppke-Brendel syndrome##AD:Spastic paraplegia 42, autosomal dominant	OMIM2024Q4	SLC33A1
+603718_AR:Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	OMIM2024Q4	CLDN1
+603758_AR:[Maleylacetoacetate isomerase deficiency]	OMIM2024Q4	GSTZ1
+603795_AD:Charcot-Marie-Tooth disease, type 1C	OMIM2024Q4	LITAF
+603805_AR:Peeling skin syndrome 2	OMIM2024Q4	TGM5
+603824_AR:Nonaka myopathy##AD:Sialuria##AR:Thrombocytopenia 12 with or without myopathy	OMIM2024Q4	GNE
+603826_AR:Cholestasis, progressive familial intrahepatic, 5	OMIM2024Q4	NR1H4
+603868_AR:Griscelli syndrome, type 2	OMIM2024Q4	RAB27A
+603887_AD:?Advance sleep phase syndrome, familial, 4	OMIM2024Q4	TIMELESS
+603945_AR:Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	OMIM2024Q4	EIF2B5
+604027_AR:Epilepsy, progressive myoclonic 6##AR:Muscular dystrophy, congenital, with or without seizures	OMIM2024Q4	GOSR2
+604032_AR:Wolcott-Rallison syndrome	OMIM2024Q4	EIF2AK3
+604094_AR:?Fanconi anemia, complementation group V	OMIM2024Q4	MAD2L2
+604101_AR:Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities	OMIM2024Q4	GRM7
+604110_AR:Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)##.:Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian)	OMIM2024Q4	ADGRG1
+604122_AR:Developmental and epileptic encephalopathy 80	OMIM2024Q4	PIGB
+604167_AD:Intellectual developmental disorder, autosomal dominant 21	OMIM2024Q4	CTCF
+604174_AD:Diamond-Blackfan anemia 12	OMIM2024Q4	RPL15
+604179_AD:?Diamond-Blackfan anemia 18	OMIM2024Q4	RPL18
+604226_AD:Developmental delay, language impairment, and ocular abnormalities	OMIM2024Q4	ARPC4
+604241_.:Glomerulosclerosis, focal segmental, 3	OMIM2024Q4	CD2AP
+604242_.:Esophageal carcinoma, somatic	OMIM2024Q4	RNF6
+604282_AR:Congenital heart defects, multiple types, 9	OMIM2024Q4	PLXND1
+604285_AR:Hyperoxaluria, primary, type 1	OMIM2024Q4	AGXT
+604357_AD/AR:Microphthalmia/coloboma and skeletal dysplasia syndrome	OMIM2024Q4	MAB21L2
+604385_AD:Episodic pain syndrome, familial, 3##AD:Neuropathy, hereditary sensory and autonomic, type VII	OMIM2024Q4	SCN11A
+604417_AD:CHOPS syndrome	OMIM2024Q4	AFF4
+609435_AR:Mitochondrial complex I deficiency, nuclear type 28##.:{Thyroid carcinoma, Hurthle cell}	OMIM2024Q4	NDUFA13
+609458_AR:Mannosidosis, alpha-, types I and II	OMIM2024Q4	MAN2B1
+609506_AR:Vitamin D-dependent rickets, type I	OMIM2024Q4	CYP27B1
+609514_AR:Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	OMIM2024Q4	TAF8
+609595_AR:Palmoplantar hyperkeratosis and true hermaphroditism##AR:Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal	OMIM2024Q4	RSPO1
+609630_.:{Leukemia, chronic lymphocytic, susceptibility to, 1}	OMIM2024Q4	CLLS1
+609631_AD:Singleton-Merten syndrome 2	OMIM2024Q4	RIGI
+609708_AD:Combined hyperlipidemia, familial##AR:Lipoprotein lipase deficiency##AR:[High density lipoprotein cholesterol level QTL 11]	OMIM2024Q4	LPL
+609728_AR:?Combined oxidative phosphorylation deficiency 25##AR:Spastic ataxia 3, autosomal recessive	OMIM2024Q4	MARS2
+609765_AD:Intellectual developmental disorder, autosomal dominant 65	OMIM2024Q4	KDM4B
+609806_AR:Encephalopathy, porphyria-related##AR:Leukoencephalopathy, porphyria-related##AD:Porphyria, acute intermittent##AD:Porphyria, acute intermittent, nonerythroid variant	OMIM2024Q4	HMBS
+609884_AR:?RHYNS syndrome##AR:COACH syndrome 1##AR:Joubert syndrome 6##AR:Meckel syndrome 3##AR:Nephronophthisis 11##AR:{Bardet-Biedl syndrome 14, modifier of}	OMIM2024Q4	TMEM67
+609903_.:{Systemic lupus erythematosus, susceptibility to, 5}	OMIM2024Q4	SLEB5
+609919_.:Gallbladder disease 3	OMIM2024Q4	GBD3
+609982_AD:CIMDAG syndrome	OMIM2024Q4	VPS4A
+609988_AR:?Sudden cardiac failure, alcohol-induced##AR:Sudden cardiac failure, infantile	OMIM2024Q4	PPA2
+610005_AR:Intellectual developmental disorder, autosomal recessive 54	OMIM2024Q4	TNIK
+610044_AD:Developmental and epileptic encephalopathy 57	OMIM2024Q4	KCNT2
+610065_.:{Systemic lupus erythematosus, susceptibility to, 7}	OMIM2024Q4	SLEB7
+610066_.:{Systemic lupus erythematosus, susceptibility to, 8}	OMIM2024Q4	SLEB8
+610084_AD:Essential tremor, hereditary, 5	OMIM2024Q4	TENM4
+610107_AR:Galloway-Mowat syndrome 3	OMIM2024Q4	OSGEP
+610130_AR:?Hypersulfaturia##AR:?Nephrolithiasis, calcium oxalate, 1	OMIM2024Q4	SLC26A1
+610192_AR:Diabetes mellitus, neonatal, with congenital hypothyroidism	OMIM2024Q4	GLIS3
+610222_AR:Macrocephaly, alopecia, cutis laxa, and scoliosis	OMIM2024Q4	RIN2
+610236_AR:Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	OMIM2024Q4	LNPK
+610262_Mu:{Hypertension, essential, susceptibility to, 6}	OMIM2024Q4	HYT6
+610272_AD/SMu:?Paroxysmal nocturnal hemoglobinuria 2##AR:Multiple congenital anomalies-hypotonia-seizures syndrome 3	OMIM2024Q4	PIGT
+610285_AR:Fetal akinesia deformation sequence 3##AR:Myasthenic syndrome, congenital, 10	OMIM2024Q4	DOK7
+610397_AR:Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	OMIM2024Q4	TRAPPC6B
+610430_.:{Macroglobulinemia, Waldenstrom, susceptibility to, 2}	OMIM2024Q4	WM2
+610502_AR:Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures	OMIM2024Q4	RTN4IP1
+612641_AD/AR:Spherocytosis, type 1	OMIM2024Q4	ANK1
+612647_AR:Ciliary dyskinesia, primary, 11	OMIM2024Q4	RSPH4A
+612648_AR:Ciliary dyskinesia, primary, 12	OMIM2024Q4	RSPH9
+612737_.:{Stature QTL 17}	OMIM2024Q4	STQTL17
+612761_AD:Adermatoglyphia##AD:Basan syndrome##AD:Huriez syndrome	OMIM2024Q4	SMARCAD1
+612772_AR:Thyroid dyshormonogenesis 5	OMIM2024Q4	DUOXA2
+612773_.:[Blood group, Auberger system]##AR:[Blood group, Lutheran null]##.:[Blood group, Lutheran system]	OMIM2024Q4	BCAM
+612907_AR:Retinitis pigmentosa and erythrocytic microcytosis##AR:Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	OMIM2024Q4	TRNT1
+612929_.:{Mycobacterium tuberculosis, susceptibility to, 3}	OMIM2024Q4	MTBS3
+612931_AR:Glycogen storage disease X	OMIM2024Q4	PGAM2
+612967_.:[Body mass index QTL 15]	OMIM2024Q4	BMIQ15
+612990_AD:Bohring-Opitz syndrome##.:Myelodysplastic syndrome, somatic	OMIM2024Q4	ASXL1
+613106_.:Vertigo, benign recurrent, 2	OMIM2024Q4	BRV2
+613213_AR:Methemoglobinemia, type I##AR:Methemoglobinemia, type II	OMIM2024Q4	CYB5R3
+613236_AD:{Thyrotoxic periodic paralysis, susceptibility to, 2}	OMIM2024Q4	KCNJ18
+613238_.:{Spondyloarthropathy, susceptibility to, 3}	OMIM2024Q4	SPDA3
+613278_AR:Fanconi anemia, complementation group P	OMIM2024Q4	SLX4
+613293_AR:Frank-ter Haar syndrome	OMIM2024Q4	SH3PXD2B
+613339_AD:Epilepsy, hot water, 1	OMIM2024Q4	HWE1
+613373_AD:?Epilepsy, myoclonic, familial adult, 4	OMIM2024Q4	YEATS2
+613392_AR:Deafness, autosomal recessive 85	OMIM2024Q4	DFNB85
+613405_AD/AR:[Bone mineral density QTL 15]	OMIM2024Q4	MIR2861
+613446_AR:Joubert syndrome 31##AR:Short-rib thoracic dysplasia 13 with or without polydactyly	OMIM2024Q4	CEP120
+613540_AD:?Spastic paraplegia 90B, autosomal recessive##AD:Spastic paraplegia 90A, autosomal dominant	OMIM2024Q4	SPTSSA
+613577_AR:DOORS syndrome##AD:Deafness, autosomal dominant 65##AR:Deafness, autosomal recessive 86##AR:Developmental and epileptic encephalopathy 16##AR:Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp##AR:Myoclonic epilepsy, infantile, familial	OMIM2024Q4	TBC1D24
+613596_AR:Retinitis pigmentosa 28	OMIM2024Q4	FAM161A
+613665_AD/AR:[Blood group, Duffy system]##AR:[White blood cell count QTL]##.:{Malaria, vivax, protection against}	OMIM2024Q4	ACKR1
+613666_AR:Congenital disorder of glycosylation, type Ip	OMIM2024Q4	ALG11
+606833_AD:Kleefstra syndrome 2	OMIM2024Q4	KMT2C
+606883_AR:Immunodeficiency 67	OMIM2024Q4	IRAK4
+606906_AR:Mitochondrial DNA depletion syndrome 17	OMIM2024Q4	MRM2
+606936_AD:Erythrokeratodermia variabilis et progressiva 6##AD:Progressive familial heart block, type IB	OMIM2024Q4	TRPM4
+606941_AR:Congenital disorder of glycosylation, type Il##AR:Gillessen-Kaesbach-Nishimura syndrome	OMIM2024Q4	ALG9
+606951_AD:Aicardi-Goutieres syndrome 7##AR:Immunodeficiency 95##AD:Singleton-Merten syndrome 1	OMIM2024Q4	IFIH1
+606974_AR:?Congenital disorder of glycosylation, type IIq	OMIM2024Q4	COG2
+606988_AR:?Spastic ataxia 9, autosomal recessive	OMIM2024Q4	CHP1
+607012_AR:?Deafness, autosomal recessive 112	OMIM2024Q4	BDP1
+607027_AR:Cutis laxa, autosomal recessive, type IID##AD:Developmental and epileptic encephalopathy 93	OMIM2024Q4	ATP6V1A
+607042_AR:Ceroid lipofuscinosis, neuronal, 3	OMIM2024Q4	CLN3
+607043_AR:?Candidiasis, familial, 8##.:{Psoriasis susceptibility 13}	OMIM2024Q4	TRAF3IP2
+607066_AD:?Palmoplantar keratoderma, nonepidermolytic, focal 2##AD:Olmsted syndrome 1	OMIM2024Q4	TRPV3
+607071_AR:Mucopolysaccharidosis type IX	OMIM2024Q4	HYAL1
+607087_.:Aortic aneurysm, familial thoracic 2	OMIM2024Q4	AAT2
+607108_AD:?Coloboma of optic nerve##AD:?Morning glory disc anomaly##AD:Aniridia##AD:Anterior segment dysgenesis 5, multiple subtypes##AD:Cataract with late-onset corneal dystrophy##AD:Foveal hypoplasia 1##AD:Keratitis##AD:Microphthalmia/coloboma 12##AD:Optic nerve hypoplasia	OMIM2024Q4	PAX6
+607144_AR:Congenital disorder of glycosylation, type Ig	OMIM2024Q4	ALG12
+607145_AR:Hermansky-Pudlak syndrome 7	OMIM2024Q4	DTNBP1
+607204_AD:Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism##AD:Spinocerebellar ataxia 47	OMIM2024Q4	PUM1
+607213_AR:Meier-Gorlin syndrome 3	OMIM2024Q4	ORC6
+607215_AR:Nephronophthisis 4##AR:Senior-Loken syndrome 4	OMIM2024Q4	NPHP4
+607239_AR:Deafness, autosomal recessive 33	OMIM2024Q4	DFNB33
+607248_.:{Glioma susceptibility 4}	OMIM2024Q4	GLM4
+607251_AR:?Combined oxidative phosphorylation deficiency 43	OMIM2024Q4	TIMM22
+607261_AR:Ellis-van Creveld syndrome##AD:Weyers acrofacial dysostosis	OMIM2024Q4	EVC2
+607304_.:Cataract 27, nuclear progressive	OMIM2024Q4	CTRCT27
+607339_.:{Coronary heart disease, susceptibility to}##.:{Coronary artery disease, resistance to}	OMIM2024Q4	CHDS1
+607340_AD:Developmental and epileptic encephalopathy 59##AD:Neurodevelopmental disorder with poor language and loss of hand skills##.:{Nicotine dependence, protection against}##.:{Nicotine dependence, susceptibility to}	OMIM2024Q4	GABBR2
+607354_.:Scoliosis, idiopathic 2	OMIM2024Q4	IS2
+607402_.:{Hepatitis C virus infection, response to therapy of}	OMIM2024Q4	IFNL3
+607439_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2##AR:Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	OMIM2024Q4	POMT2
+607458_AD:Spinocerebellar ataxia 18	OMIM2024Q4	SCA18
+607509_AR:Arthrogryposis, distal, type 12	OMIM2024Q4	ADAMTS15
+607542_AD:Atrial fibrillation, familial, 3##AR:Jervell and Lange-Nielsen syndrome##AD:Long QT syndrome 1##AD:Short QT syndrome 2##AD:{Long QT syndrome 1, acquired, susceptibility to}	OMIM2024Q4	KCNQ1
+607568_AR:Methylmalonic aciduria, vitamin B12-responsive, cblB type	OMIM2024Q4	MMAB
+607623_AR:Niemann-Pick disease, type C1##AR:Niemann-Pick disease, type D	OMIM2024Q4	NPC1
+607649_AR:Osteopetrosis, autosomal recessive 5	OMIM2024Q4	OSTM1
+607672_AR:Cold-induced sweating syndrome 2	OMIM2024Q4	CLCF1
+607696_AR:Usher syndrome, type 1G	OMIM2024Q4	USH1G
+607704_.:Cerebral palsy, spastic quadriplegic, 2	OMIM2024Q4	KANK1
+604433_.:?Brugada syndrome 6	OMIM2024Q4	KCNE3
+604437_AR:Developmental and epileptic encephalopathy 102	OMIM2024Q4	SLC38A3
+604544_AR:Hydrops, lactic acidosis, and sideroblastic anemia##AR:Perrault syndrome 4	OMIM2024Q4	LARS2
+604579_AD:Exudative vitreoretinopathy 1##AD:Retinopathy of prematurity	OMIM2024Q4	FZD4
+604590_.:{Malaria, resistance to}##AD:{Systemic lupus erythematosus, susceptibility to}	OMIM2024Q4	FCGR2B
+604603_AD:?Angioedema, hereditary, 7	OMIM2024Q4	MYOF
+604614_AR:Adrenocorticotropic hormone deficiency	OMIM2024Q4	TBX19
+604641_AD:{Diabetes mellitus, noninsulin-dependent}	OMIM2024Q4	MAPK8IP1
+604695_AR:Joubert syndrome 35##AD:Retinitis pigmentosa 83	OMIM2024Q4	ARL3
+604700_AD:?Immunodeficiency 85 and autoimmunity	OMIM2024Q4	TOM1
+604775_AD:?Episodic pain syndrome, familial, 1	OMIM2024Q4	TRPA1
+604801_AR:Muscular dystrophy, congenital, 1B	OMIM2024Q4	MDC1B
+604808_AD:Hypogonadotropic hypogonadism 21 with anosmia	OMIM2024Q4	FLRT3
+604831_AD:?Weyers acrofacial dysostosis##AR:Ellis-van Creveld syndrome	OMIM2024Q4	EVC
+604843_DR:Hyperbilirubinemia, Rotor type, digenic	OMIM2024Q4	SLCO1B1
+604844_AR:Neurofacioskeletal syndrome with or without renal agenesis	OMIM2024Q4	HS2ST1
+604857_AD:Neutropenia, severe congenital, 8, autosomal dominant	OMIM2024Q4	SRP54
+604907_AD/AR:Immunodeficiency, common variable, 2##.:Immunoglobulin A deficiency 2	OMIM2024Q4	TNFRSF13B
+604983_AR:?Mitochondrial DNA depletion syndrome 16 (hepatic type)##AR:?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)##AD:Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	OMIM2024Q4	POLG2
+605011_AR:Hennekam lymphangiectasia-lymphedema syndrome 3	OMIM2024Q4	ADAMTS3
+605020_AD:?Craniofacial anomalies and anterior segment dysgenesis syndrome##AD:Keratoconus 1	OMIM2024Q4	VSX1
+605111_AR:Deafness, autosomal recessive 68	OMIM2024Q4	S1PR2
+605131_AR:Developmental and epileptic encephalopathy 28##.:Esophageal squamous cell carcinoma, somatic##AR:Spinocerebellar ataxia, autosomal recessive 12	OMIM2024Q4	WWOX
+605145_AD:Chondrocalcinosis 2##AD:Craniometaphyseal dysplasia	OMIM2024Q4	ANKH
+605158_AR:Anterior segment dysgenesis 7, with sclerocornea	OMIM2024Q4	PXDN
+605229_AR:Spastic paraplegia 14, autosomal recessive	OMIM2024Q4	SPG14
+605242_AR:Deafness, autosomal recessive 18A##AR:Usher syndrome, type 1C	OMIM2024Q4	USH1C
+605367_AR:Combined oxidative phosphorylation deficiency 17##.:{Prostate cancer, hereditary, 2, susceptibility to}	OMIM2024Q4	ELAC2
+605379_AR:Giant axonal neuropathy-1	OMIM2024Q4	GAN
+605394_AD:Immunodeficiency 60 and autoimmunity	OMIM2024Q4	BACH2
+605462_.:Basal cell carcinoma, somatic##.:{Basal cell carcinoma, susceptibility to, 1}##.:Basal cell carcinoma, somatic##.:Basal cell carcinoma, somatic##.:Basal cell carcinoma, somatic	OMIM2024Q4	BCC1
+605497_AR:Osteogenesis imperfecta, type VII	OMIM2024Q4	CRTAP
+605519_.:Majeed syndrome	OMIM2024Q4	LPIN2
+610513_AR:Kufor-Rakeb syndrome##AR:Spastic paraplegia 78, autosomal recessive	OMIM2024Q4	ATP13A2
+610523_AR:Joubert syndrome 15	OMIM2024Q4	CEP41
+610534_AR:Al-Raqad syndrome	OMIM2024Q4	DCPS
+610565_AR:?Mirror movements 3	OMIM2024Q4	DNAL4
+610573_AR:Anonychia congenita	OMIM2024Q4	RSPO4
+610619_AD:Angioedema, hereditary, 3##AR:Factor XII deficiency	OMIM2024Q4	F12
+610649_.:[Bone size quantitative trait locus 3]	OMIM2024Q4	BSZQTL3
+610652_AR:Dyskinesia, limb and orofacial, infantile-onset##AD:Striatal degeneration, autosomal dominant	OMIM2024Q4	PDE10A
+610801_AR:?Nephronophthisis-like nephropathy 2	OMIM2024Q4	SLC41A1
+610819_AR:Anemia, sideroblastic, 2, pyridoxine-refractory	OMIM2024Q4	SLC25A38
+610855_AD:Thrombocytopenia 2	OMIM2024Q4	ANKRD26
+610925_AR:Candidiasis, familial, 9	OMIM2024Q4	IL17RC
+610949_AR:?Spinocerebellar ataxia, autosomal recessive 11	OMIM2024Q4	SYT14
+611073_.:{Alzheimer disease 12}	OMIM2024Q4	AD12
+611089_AD:{Centronuclear myopathy, autosomal, modifier of}	OMIM2024Q4	MTMR14
+611100_.:{Prostate cancer, hereditary, 10}	OMIM2024Q4	HPC10
+611146_AR:Hypermanganesemia with dystonia 1	OMIM2024Q4	SLC30A10
+611170_AD:?Spinocerebellar ataxia 49##AD:Ataxia-pancytopenia syndrome##AD:Monosomy 7 myelodysplasia and leukemia syndrome 1	OMIM2024Q4	SAMD9L
+611224_AR:Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	OMIM2024Q4	SUCLG1
+611327_AR:Congenital myopathy 21 with early respiratory failure	OMIM2024Q4	DNAJB4
+611398_AR:?Ciliary dyskinesia, primary, 41	OMIM2024Q4	GAS2L2
+611410_AR:?Deafness, autosomal recessive 104##AD:Deafness, autosomal dominant 21	OMIM2024Q4	RIPOR2
+611428_AR:Microcephaly, short stature, and limb abnormalities##AR:Microcephaly-micromelia syndrome	OMIM2024Q4	DONSON
+611430_AR:Spermatogenic failure 37	OMIM2024Q4	TTC21A
+611469_.:{Colorectal cancer, susceptibility to, 2}	OMIM2024Q4	CRCS2
+611507_AR:Wolfram syndrome 2	OMIM2024Q4	CISD2
+607786_AD:Hypercholesterolemia, familial, 3##AD:{Low density lipoprotein cholesterol level QTL 1}	OMIM2024Q4	PCSK9
+607803_AD:Hypomagnesemia 6, renal##AD/AR:Hypomagnesemia, seizures, and impaired intellectual development 1	OMIM2024Q4	CNNM2
+607805_AR:Jalili syndrome	OMIM2024Q4	CNNM4
+607814_AR:Prolonged electroretinal response suppression 2	OMIM2024Q4	RGS9BP
+607830_AR:Fraser syndrome 1	OMIM2024Q4	FRAS1
+607882_AR:Brown-Vialetto-Van Laere syndrome 2	OMIM2024Q4	SLC52A2
+607883_AD:Riboflavin deficiency	OMIM2024Q4	SLC52A1
+607900_AR:Kindler syndrome	OMIM2024Q4	FERMT1
+607966_.:{Systemic lupus erythematosus with nephritis, susceptibility to, 2}	OMIM2024Q4	SLEN2
+607976_AR:Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	OMIM2024Q4	COX4I2
+607983_AR:Geroderma osteodysplasticum	OMIM2024Q4	GORAB
+608041_AR:Hyaline fibromatosis syndrome	OMIM2024Q4	ANTXR2
+608072_AR:Myoclonic epilepsy of Lafora 2	OMIM2024Q4	NHLRC1
+608100_AR:Multiple mitochondrial dysfunctions syndrome 1##AR:Spastic paraplegia 93, autosomal recessive	OMIM2024Q4	NFU1
+608125_AR:Spondyloocular syndrome##AR:{Pseudoxanthoma elasticum, modifier of severity of}	OMIM2024Q4	XYLT2
+608167_AD:Developmental and epileptic encephalopathy 14##AD:Epilepsy nocturnal frontal lobe, 5	OMIM2024Q4	KCNT1
+608241_AR:Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures	OMIM2024Q4	SNIP1
+608267_AD:Long-Olsen-Distelmaier syndrome	OMIM2024Q4	RRAGC
+608268_AD:Hypomagnesemia 7, renal, with or without dilated cardiomyopathy	OMIM2024Q4	RRAGD
+608302_AR:Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	OMIM2024Q4	LGI3
+608329_AD:Cardiac-urogenital syndrome##AD:Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	OMIM2024Q4	MYRF
+608345_AD:Nystagmus 3, congenital, autosomal dominant	OMIM2024Q4	NYS3
+608360_AD:?Agammaglobulinemia 5	OMIM2024Q4	LRRC8A
+608400_AR:Retinitis pigmentosa 39##AR:Usher syndrome, type 2A	OMIM2024Q4	USH2A
+608416_AR:Heterotaxy, visceral, 7, autosomal	OMIM2024Q4	MMP21
+608433_AD:Intellectual developmental disorder, autosomal dominant 22	OMIM2024Q4	ZBTB18
+608465_AD:Amyotrophic lateral sclerosis 4, juvenile##AR:Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	OMIM2024Q4	SETX
+608508_AR:Chronic granulomatous disease 4, autosomal recessive	OMIM2024Q4	CYBA
+608542_.:Aneurysm, intracranial berry, 2	OMIM2024Q4	ANIB2
+608546_AR:Robin sequence with cleft mandible and limb anomalies	OMIM2024Q4	EIF4A3
+608550_AD:Dystonia 30	OMIM2024Q4	VPS16
+608576_AD:Corneal dystrophy, posterior polymorphous, 4##AD:Deafness, autosomal dominant 28##AR:Ectodermal dysplasia/short stature syndrome	OMIM2024Q4	GRHL2
+608616_AR:{Rhabdomyolysis, susceptibility to, 1}	OMIM2024Q4	OBSCN
+608691_.:Major depressive disorder 2	OMIM2024Q4	MDD2
+608695_.:Glaucoma, primary open angle, juvenile-onset, 2	OMIM2024Q4	GLC1J
+613698_AR:Carnitine-acylcarnitine translocase deficiency	OMIM2024Q4	SLC25A20
+613836_.:[Adiponectin, serum level of, QTL5]	OMIM2024Q4	ADIPQTL5
+613872_AR:Factor X deficiency	OMIM2024Q4	F10
+613879_AR:Thyrotropin-releasing hormone deficiency	OMIM2024Q4	TRH
+613920_AR:?Mitochondrial complex IV, deficiency, nuclear type 9	OMIM2024Q4	COA5
+614041_.:Bladder cancer, somatic##.:Osteosarcoma, somatic##AD/SMu:Retinoblastoma##AD/SMu:Retinoblastoma, trilateral##.:Small cell cancer of the lung, somatic	OMIM2024Q4	RB1
+614064_AR:Immunodeficiency-centromeric instability-facial anomalies syndrome 2	OMIM2024Q4	ZBTB24
+614068_AR:?Cranioectodermal dysplasia 3##AR:?Retinitis pigmentosa 81##AR:Short-rib thoracic dysplasia 18 with polydactyly	OMIM2024Q4	IFT43
+614107_AR:Oocyte/zygote/embryo maturation arrest 17	OMIM2024Q4	KPNA7
+614154_AD:Spinocerebellar ataxia 36	OMIM2024Q4	NOP56
+614235_AR:Intellectual developmental disorder with autism and dysmorphic facies	OMIM2024Q4	PDZD8
+614317_.:Vesicoureteral reflux 4	OMIM2024Q4	VUR4
+614342_AR:Intellectual developmental disorder, autosomal recessive 30	OMIM2024Q4	MRT30
+614344_AR:Intellectual developmental disorder, autosomal recessive 23	OMIM2024Q4	MRT23
+614387_AR:Dentici-Novelli neurodevelopmental syndrome	OMIM2024Q4	ZNF526
+614414_AR:Deafness, autosomal recessive 96	OMIM2024Q4	DFNB96
+614506_AR:Neurodevelopmental disorder with cerebellar atrophy and with or without seizures##AR:Rigidity and multifocal seizure syndrome, lethal neonatal	OMIM2024Q4	BRAT1
+605552_AD:Abdominal obesity-metabolic syndrome 1	OMIM2024Q4	AOMS1
+605598_.:{Diabetes mellitus, insulin-dependent, 18}	OMIM2024Q4	IDDM18
+605648_AR:Parkinson disease 15, autosomal recessive	OMIM2024Q4	FBXO7
+605651_AD:Neurodevelopmental, jaw, eye, and digital syndrome	OMIM2024Q4	FBXW11
+605704_AD:Amyotrophic lateral sclerosis 8##AD:Spinal muscular atrophy, late-onset, Finkel type	OMIM2024Q4	VAPB
+605713_AD:Neuropathy, hereditary sensory and autonomic, type IC	OMIM2024Q4	SPTLC2
+605738_AD:Microphthalmia/coloboma 2	OMIM2024Q4	MCOPCB2
+605744_AR:Immunoskeletal dysplasia with neurodevelopmental abnormalities	OMIM2024Q4	EXTL3
+605818_AR:Deafness, autosomal recessive 27	OMIM2024Q4	DFNB27
+605824_AR:Muscular dystrophy, limb-girdle, autosomal recessive 26	OMIM2024Q4	POPDC3
+605844_.:{Dermatitis, atopic, susceptibility to, 5}	OMIM2024Q4	ATOD5
+605884_AR:Spermatogenic failure 56	OMIM2024Q4	DNAH10
+605913_.:Bleeding disorder, east Texas type	OMIM2024Q4	BDET
+605947_AR:CHIME syndrome	OMIM2024Q4	PIGL
+605951_AR:?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15	OMIM2024Q4	DPM3
+605981_AR:Johanson-Blizzard syndrome	OMIM2024Q4	UBR1
+606012_AD:Deafness, autosomal dominant 18	OMIM2024Q4	DFNA18
+606019_AR:Pontocerebellar hypoplasia, type 1C	OMIM2024Q4	EXOSC8
+606034_AR:Aicardi-Goutieres syndrome 4	OMIM2024Q4	RNASEH2A
+606045_AR:Cranioectodermal dysplasia 1	OMIM2024Q4	IFT122
+606049_.:Acromegaloid features, overgrowth, cleft palate, and hernia	OMIM2024Q4	AOCH
+606157_AR:Neurodegeneration with brain iron accumulation 1	OMIM2024Q4	PANK2
+606201_AD:?Cataract 41##AD:Deafness, autosomal dominant 6/14/38##AR:Wolfram syndrome 1##AD:Wolfram-like syndrome, autosomal dominant##AD:{Diabetes mellitus, noninsulin-dependent, association with}	OMIM2024Q4	WFS1
+606224_AR:Anemia, congenital, nonspherocytic hemolytic, 8	OMIM2024Q4	NT5C3A
+606245_AD:Imagawa-Matsumoto syndrome	OMIM2024Q4	SUZ12
+606247_AR:Microcephaly-capillary malformation syndrome	OMIM2024Q4	STAMBP
+606257_.:{Stature QTL 3}	OMIM2024Q4	STQTL3
+606273_AR:Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	OMIM2024Q4	EIF2B3
+606347_AD:Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia##AD:Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	OMIM2024Q4	PSTPIP1
+606382_AR:Nephrotic syndrome, type 15	OMIM2024Q4	MAGI2
+606389_AR:Spermatogenic failure 7	OMIM2024Q4	CATSPER1
+606418_AR:Desmosterolosis	OMIM2024Q4	DHCR24
+606454_AR:Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	OMIM2024Q4	EIF2B2
+606470_AR:Dyskeratosis congenita, autosomal recessive 2	OMIM2024Q4	NHP2
+606530_AR:Cerebrotendinous xanthomatosis	OMIM2024Q4	CYP27A1
+606531_AD:{Asthma, susceptibility to}	OMIM2024Q4	SCGB3A2
+611610_AR:Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	OMIM2024Q4	PGM2L1
+611623_AR:Developmental and epileptic encephalopathy 21	OMIM2024Q4	NECAP1
+611634_AD:Febrile seizures, familial, 9	OMIM2024Q4	45697
+611644_.:{Hirschsprung disease, susceptibility to, 9}	OMIM2024Q4	HSCR9
+611669_AR:Intellectual developmental disorder, autosomal recessive 68	OMIM2024Q4	TRMT1
+611715_AR:Congenital disorder of glycosylation, type Iq##AR:Kahrizi syndrome	OMIM2024Q4	SRD5A3
+611725_AR:Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	OMIM2024Q4	KCTD7
+611738_AD:{Osteoporosis}	OMIM2024Q4	BMND7
+611845_AR:Combined oxidative phosphorylation deficiency 59	OMIM2024Q4	MRPL39
+611863_.:Microtia with nasolacrimal duct imperforation and eye coloboma	OMIM2024Q4	MNDEC
+611891_.:{Aneurysm, familial abdominal 3}	OMIM2024Q4	AAA3
+611920_.:[C-reactive protein QTL]	OMIM2024Q4	CPROTQ
+611956_AR:Hypotrichosis 15	OMIM2024Q4	C3orf52
+611959_.:{Prostate cancer, hereditary, 15}	OMIM2024Q4	HPC15
+611971_AR:Combined oxidative phosphorylation deficiency 36	OMIM2024Q4	MRPS2
+612017_.:Pyloric stenosis, infantile hypertrophic, 3	OMIM2024Q4	IHPS3
+612036_AR:Developmental and epileptic encephalopathy 75	OMIM2024Q4	PARS2
+612051_AD:Spinocerebellar ataxia 31	OMIM2024Q4	BEAN1
+612080_AR:Mitochondrial complex III deficiency, nuclear type 4	OMIM2024Q4	UQCRQ
+612099_.:Trichoepithelioma, multiple familial, 2	OMIM2024Q4	MFT2
+612192_AD/AR:Diabetes mellitus, transient neonatal 1	OMIM2024Q4	ZFP57
+612258_AD:Developmental and epileptic encephalopathy 108	OMIM2024Q4	MAST3
+612276_AR:Galloway-Mowat syndrome 10	OMIM2024Q4	YRDC
+612293_.:Porokeratosis 5, disseminated superficial actinic	OMIM2024Q4	POROK5
+612322_AR:Combined oxidative phosphorylation deficiency 44	OMIM2024Q4	FASTKD2
+612357_.:{Major affective disorder-8, susceptibility to}	OMIM2024Q4	MAFD8
+612361_.:{Schizophrenia, susceptibility to, 14}	OMIM2024Q4	SCZD14
+612372_.:{Major affective disorder-9, susceptibility to}	OMIM2024Q4	MAFD9
+612374_AD:STING-associated vasculopathy, infantile-onset	OMIM2024Q4	STING1
+612381_.:{Inflammatory bowel disease 23}	OMIM2024Q4	IBD23
+612388_.:{Sarcoidosis, susceptibility to, 3}	OMIM2024Q4	SS3
+612399_AR:Oocyte/zygote/embryo maturation arrest 15	OMIM2024Q4	TLE6
+612417_.:{Narcolepsy 4}	OMIM2024Q4	NRCLP4
+612418_AR:Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	OMIM2024Q4	TMEM70
+612595_.:{Multiple sclerosis, susceptibility to, 3}	OMIM2024Q4	MS3
+608739_AR:Hoxha-Aliu syndrome##AR:Spondyloepimetaphyseal dysplasia, Guo-Campeau type	OMIM2024Q4	ERI1
+608798_AD:Deafness, autosomal dominant 5	OMIM2024Q4	GSDME
+608832_AD:Tooth agenesis, selective, 9	OMIM2024Q4	GREM2
+608877_AR:Spinocerebellar ataxia, autosomal recessive 4	OMIM2024Q4	VPS13D
+608878_.:{Gene expression, variation in, QTL}	OMIM2024Q4	GEVQ2
+608884_AR:Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	OMIM2024Q4	RALGAPA1
+608904_.:{Attention deficit-hyperactivity disorder, susceptibility to, 2}	OMIM2024Q4	ADHD2
+608944_AR:Bifid nose with or without anorectal and renal anomalies##AR:Manitoba oculotrichoanal syndrome##AD:Trigonocephaly 2	OMIM2024Q4	FREM1
+609023_AD:Paroxysmal nonkinesigenic dyskinesia 1	OMIM2024Q4	PNKD
+609039_AD:Narcolepsy 3	OMIM2024Q4	NRCLP3
+609110_AR:Oocyte/zygote/embryo maturation arrest 12##AR:Spermatogenic failure 64	OMIM2024Q4	FBXO43
+609122_AD:Aneurysm, intracranial berry, 3	OMIM2024Q4	ANIB3
+609179_.:{Migraine with aura, susceptibility to, 7}	OMIM2024Q4	MGR7
+609188_AR:Trichothiodystrophy 4, nonphotosensitive	OMIM2024Q4	MPLKIP
+609247_AD:Developmental and epileptic encephalopathy 73	OMIM2024Q4	RNF13
+609319_.:[Hematocrit/hemoglobin quantitative trait locus 1]	OMIM2024Q4	HCHGQ1
+609321_AR:Microcephaly 14, primary, autosomal recessive	OMIM2024Q4	SASS6
+609347_AR:?Spastic paraplegia 72B, autosomal recessive##AD:Spastic paraplegia 72A, autosomal dominant	OMIM2024Q4	REEP2
+609357_AR:Immunodeficiency 80 with or without cardiomyopathy	OMIM2024Q4	MCM10
+609364_AR:Oocyte/zygote/embryo maturation arrest 18	OMIM2024Q4	NLRP2
+609403_.:Preeclampsia/eclampsia 3	OMIM2024Q4	PEE3
+609408_.:Holoprosencephaly 8	OMIM2024Q4	HPE8
+609443_AD:Abdominal obesity-metabolic syndrome 4	OMIM2024Q4	CELA2A
+609457_AD/AR:[Histidinemia]	OMIM2024Q4	HAL
+609470_.:Left ventricular noncompaction 2	OMIM2024Q4	LVNC2
+609566_AD:Parietal foramina 3	OMIM2024Q4	PFM3
+609584_AR:L-2-hydroxyglutaric aciduria	OMIM2024Q4	L2HGDH
+609588_AR:Anemia, sideroblastic, 3, pyridoxine-refractory##AR:Spasticity, childhood-onset, with hyperglycinemia	OMIM2024Q4	GLRX5
+609591_AD:Noonan syndrome 8	OMIM2024Q4	RIT1
+609617_AD:Zinc deficiency, transient neonatal	OMIM2024Q4	SLC30A2
+606540_AR:Cholestasis, progressive familial intrahepatic, 10##AR:Diarrhea 2, with microvillus atrophy, with or without cholestasis	OMIM2024Q4	MYO5B
+606597_AD:Craniofacial-deafness-hand syndrome##SMu:Rhabdomyosarcoma 2, alveolar##AD:Waardenburg syndrome, type 1##AD/AR:Waardenburg syndrome, type 3	OMIM2024Q4	PAX3
+606627_AR:Nephrotic syndrome, type 24	OMIM2024Q4	DAAM2
+606672_AR:Bernard-Soulier syndrome, type A1 (recessive)##AD:Bernard-Soulier syndrome, type A2 (dominant)##AD:von Willebrand disease, platelet-type##AR:{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}	OMIM2024Q4	GP1BA
+606682_AR:Hermansky-Pudlak syndrome 4	OMIM2024Q4	HPS4
+606687_AR:Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	OMIM2024Q4	EIF2B4
+606708_.:Split-hand/foot malformation 5	OMIM2024Q4	SHFM5
+606800_AR:Glycogen storage disease II	OMIM2024Q4	GAA
+606945_AD/AR:Hypercholesterolemia, familial, 1##AD/AR:LDL cholesterol level QTL2	OMIM2024Q4	LDLR
+606962_AR:Deafness, autosomal recessive 107	OMIM2024Q4	WBP2
+606975_AR:Congenital disorder of glycosylation, type IIbb	OMIM2024Q4	COG3
+607002_AD:Hypogonadotropic hypogonadism 4 with or without anosmia	OMIM2024Q4	PROK2
+607031_AR:Hyperglycinemia, lactic acidosis, and seizures	OMIM2024Q4	LIAS
+607096_AR:Hypouricemia, renal	OMIM2024Q4	SLC22A12
+607120_AR:Developmental and epileptic encephalopathy 12	OMIM2024Q4	PLCB1
+607139_AR:Fanconi anemia, complementation group A	OMIM2024Q4	FANCA
+607179_AD:{Schizophrenia 19, susceptibility to}	OMIM2024Q4	RBM12
+607207_AD:Spinocerebellar ataxia 48##AR:Spinocerebellar ataxia, autosomal recessive 16	OMIM2024Q4	STUB1
+607254_AD:{Schizophrenia}	OMIM2024Q4	APOL4
+607257_AD:Tolchin-Le Caignec syndrome	OMIM2024Q4	SOX6
+607293_AR:?Deafness, autosomal recessive 103	OMIM2024Q4	CLIC5
+607314_AR:Deafness, autosomal recessive 93	OMIM2024Q4	CABP2
+607373_IC/Mu:{Autism susceptibility 8}	OMIM2024Q4	AUTS8
+607463_AR:Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	OMIM2024Q4	PPP1R13L
+607468_AR:?Chorea, childhood-onset, with psychomotor retardation	OMIM2024Q4	GPR88
+607478_.:{?Attention deficit-hyperactivity disorder, susceptibility to, 7}##.:{Unipolar depression, susceptibility to}	OMIM2024Q4	TPH2
+607481_AR:Methylmalonic aciduria, vitamin B12-responsive, cblA type	OMIM2024Q4	MMAA
+607490_AR:D-lactic aciduria with susceptibility to gout	OMIM2024Q4	LDHD
+607508_AD:{Migraine with or without aura, susceptibility to, 5}	OMIM2024Q4	MGR5
+607528_AD:Aortic valve disease 3	OMIM2024Q4	ROBO4
+607529_AR:Neurodevelopmental disorder with microcephaly, ataxia, and seizures	OMIM2024Q4	SARS1
+607545_AR:Microcephaly, congenital cataract, and psoriasiform dermatitis	OMIM2024Q4	MSMO1
+607562_.:{Inflammatory bowel disease 17, protection against}##.:{Psoriasis, protection against}	OMIM2024Q4	IL23R
+607585_AR:Ataxia-telangiectasia##.:Lymphoma, B-cell non-Hodgkin, somatic##.:Lymphoma, mantle cell, somatic##.:T-cell prolymphocytic leukemia, somatic##AD/SMu:{Breast cancer, susceptibility to}	OMIM2024Q4	ATM
+614631_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	OMIM2024Q4	CRPPA
+614646_.:Mean platelet volume QTL6	OMIM2024Q4	MPVQTL6
+614647_AR:Coenzyme Q10 deficiency, primary, 6	OMIM2024Q4	COQ6
+614708_AR:Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	OMIM2024Q4	SCUBE3
+614730_AR:Hyperphosphatasia with impaired intellectual development syndrome 2	OMIM2024Q4	PIGO
+614738_AR:Mitochondrial pyruvate carrier deficiency	OMIM2024Q4	MPC1
+614834_.:{Thyrotoxic periodic paralysis, susceptibility to, 3}	OMIM2024Q4	TTPP3
+614928_AR:Ectodermal dysplasia 6, hair/nail type	OMIM2024Q4	ECTD6
+614930_AR:Ciliary dyskinesia, primary, 19	OMIM2024Q4	DNAAF11
+614948_AR:Combined oxidative phosphorylation deficiency 56	OMIM2024Q4	TAMM41
+614949_AR:Joubert syndrome 20##AR:Meckel syndrome 11	OMIM2024Q4	TMEM231
+614954_AD:Congenital heart defects, multiple types, 3	OMIM2024Q4	CHDT3
+614988_AR:Deafness autosomal recessive 106	OMIM2024Q4	EPS8L2
+614989_AD:?Hypotrichosis 5	OMIM2024Q4	EPS8L3
+615004_AR:Night blindness, congenital stationary (complete), 1F, autosomal recessive	OMIM2024Q4	LRIT3
+615101_AD:Cortical dysplasia, complex, with other brain malformations 5	OMIM2024Q4	TUBB2A
+615192_.:[Birth weight QTL4]	OMIM2024Q4	BWQTL4
+615242_AR:[Blood group, Vel system]	OMIM2024Q4	SMIM1
+615262_AR:Intellectual developmental disorder, autosomal recessive 44	OMIM2024Q4	METTL23
+615283_AR:?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	OMIM2024Q4	EXOC8
+615498_AR:?Combined oxidative phosphorylation deficiency 49	OMIM2024Q4	MIEF2
+615534_AR:Mitochondrial complex I deficiency, nuclear type 31	OMIM2024Q4	TIMMDC1
+615618_AD:Dowling-Degos disease 4##AR:Muscular dystrophy, limb-girdle, autosomal recessive 21	OMIM2024Q4	POGLUT1
+612599_.:{Psoriasis susceptibility 11}	OMIM2024Q4	PSORS11
+612627_.:Seizures, benign familial infantile, 4	OMIM2024Q4	BFIS4
+612636_AR:Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	OMIM2024Q4	UNC80
+612659_AR:Mitchell-Riley syndrome	OMIM2024Q4	RFX6
+612666_AD:Congenital anomalies of kidney and urinary tract 1##AR:Spastic paraplegia 23, autosomal recessive	OMIM2024Q4	DSTYK
+612753_AR:Hennekam lymphangiectasia-lymphedema syndrome 1	OMIM2024Q4	CCBE1
+612792_AD:Lenz-Majewski hyperostotic dwarfism	OMIM2024Q4	PTDSS1
+612796_.:{Inflammatory bowel disease 27}	OMIM2024Q4	IBD27
+612802_AR:Combined oxidative phosphorylation deficiency 20	OMIM2024Q4	VARS2
+612803_AR:?Deafness, autosomal recessive 94##AR:Combined oxidative phosphorylation deficiency 24	OMIM2024Q4	NARS2
+612835_AR:Holoprosencephaly 14	OMIM2024Q4	PLCH1
+612837_AR:Coenzyme Q10 deficiency, primary, 5	OMIM2024Q4	COQ9
+612853_.:{Restless legs syndrome 7}	OMIM2024Q4	RLS7
+612886_.:{Menopause, natural, age at, QTL4}	OMIM2024Q4	MENOQ4
+612957_.:{Vitamin B6 plasma level QTL 1}	OMIM2024Q4	B6QTL1
+613018_AR:Tyrosinemia, type II	OMIM2024Q4	TAT
+613033_.:{Glioma susceptibility 8}	OMIM2024Q4	GLM8
+613036_AR:Spinocerebellar ataxia, autosomal recessive 2	OMIM2024Q4	PMPCA
+613058_.:{Basal cell carcinoma, susceptibility to, 2}	OMIM2024Q4	BCC2
+613065_.:T-cell acute lymphoblastic leukemia, somatic##.:Leukemia, T-cell acute lymphocytic, somatic##.:Leukemia, acute lymphoblastic, somatic##.:Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic##.:{Leukemia, acute lymphocytic, susceptibility to, 1}##.:Leukemia, acute lymphoblastic##.:Leukemia, T-cell acute lymphocytic, somatic##.:Leukemia, T-cell acute lymphoblastic, somatic##.:Leukemia, acute lymphoblastic, somatic	OMIM2024Q4	ALL1
+613160_AD:von Willebrand disease, type 1##AR:von Willebrand disease, type 3##AD/AR:von Willebrand disease, types 2A, 2B, 2M, and 2N	OMIM2024Q4	VWF
+613168_AR:Alpha-2-plasmin inhibitor deficiency	OMIM2024Q4	SERPINF2
+613214_AR:Amelogenesis imperfecta, type IIA3	OMIM2024Q4	WDR72
+613257_AR:Microcephaly, short stature, and impaired glucose metabolism 2	OMIM2024Q4	PPP1R15B
+613284_.:[Hematocrit/hemoglobin quantitative trait locus 3]	OMIM2024Q4	HCHGQ3
+613301_AR:Hypogonadotropic hypogonadism 22, with or without anosmia	OMIM2024Q4	FEZF1
+613344_AR:Retinitis pigmentosa 86	OMIM2024Q4	KIAA1549
+613387_Mu:{Fatty liver disease, susceptibility to, 2}	OMIM2024Q4	NAFLD2
+613412_Mu:{Esophagitis, eosinophilic, 2}	OMIM2024Q4	EOE2
+613455_AR:?Ondontochondrodysplasia 2 with hearing loss and diabetes	OMIM2024Q4	MIA3
+613547_.:{Stature QTL 22}	OMIM2024Q4	STQTL22
+613585_AR:Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly	OMIM2024Q4	TMEM147
+613636_.:[Tuberculin skin test reactivity, absence of]	OMIM2024Q4	TST1
+609656_.:{Bone size QTL}	OMIM2024Q4	BSZQTL
+609657_.:{Bone size QTL}	OMIM2024Q4	BSZQTL2
+609712_AR:Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient##AD:[Adenosine triphosphate, elevated, of erythrocytes]	OMIM2024Q4	PKLR
+609739_AR:Deafness, autosomal recessive 42	OMIM2024Q4	ILDR1
+609751_AD:Mitchell syndrome##AR:Peroxisomal acyl-CoA oxidase deficiency	OMIM2024Q4	ACOX1
+609815_.:Zygodactyly 1	OMIM2024Q4	ZD1
+609822_.:{Stature QTL 7}	OMIM2024Q4	STQTL7
+609948_AR:Cerebellar ataxia and hypogonadotropic hypogonadism	OMIM2024Q4	RNF216
+609958_.:{Asthma-related traits, susceptibility to, 3}	OMIM2024Q4	ASRT3
+609994_.:Myopia 11	OMIM2024Q4	MYP11
+610045_AR:Succinic semialdehyde dehydrogenase deficiency	OMIM2024Q4	ALDH5A1
+610063_AR:Spermatogenic failure 39	OMIM2024Q4	DNAH17
+610128_AR:?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	OMIM2024Q4	CHST11
+610239_.:[High density lipoprotein cholesterol level QTL 4]	OMIM2024Q4	HDLCQ4
+610248_AR:Deafness, autosomal recessive 65	OMIM2024Q4	DFNB65
+610274_AR:Hyperphosphatasia with impaired intellectual development syndrome 1	OMIM2024Q4	PIGV
+610316_AR:Combined oxidative phosphorylation deficiency 13##AR:Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration##AD:Spinocerebellar ataxia 25	OMIM2024Q4	PNPT1
+610390_AD:Immunodeficiency 77	OMIM2024Q4	MPEG1
+610439_.:{Restless legs syndrome 4}	OMIM2024Q4	RLS4
+610512_AD:?Cowden syndrome 7##AR:Dyserythropoietic anemia, congenital, type II	OMIM2024Q4	SEC23B
+610550_AD/AR:Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency##AD/AR:Methionine adenosyltransferase deficiency, autosomal recessive	OMIM2024Q4	MAT1A
+610598_.:Retinitis pigmentosa 36	OMIM2024Q4	PRCD
+610613_AR:Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency##AD:Aldosteronism, glucocorticoid-remediable	OMIM2024Q4	CYP11B1
+610647_AR:?N-acetylaspartate deficiency	OMIM2024Q4	NAT8L
+607617_AR:?Ovarian dysgenesis 6##AR:Galloway-Mowat syndrome 7##AR:Nephrotic syndrome, type 11	OMIM2024Q4	NUP107
+607642_AD/IC:Smith-Magenis syndrome	OMIM2024Q4	RAI1
+607657_AR:Cystathioninuria	OMIM2024Q4	CTH
+607690_AR:Chylomicron retention disease	OMIM2024Q4	SAR1B
+607731_AR:Charcot-Marie-Tooth disease, axonal, type 2H	OMIM2024Q4	CMT2H
+607759_AD:Bleeding disorder, platelet-type, 16, autosomal dominant##AR:Glanzmann thrombasthenia 1##.:Thrombocytopenia, neonatal alloimmune, BAK antigen related	OMIM2024Q4	ITGA2B
+607837_AR:Ceroid lipofuscinosis, neuronal, 8##AR:Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	OMIM2024Q4	CLN8
+607867_AR:Retinal dystrophy with or without extraocular anomalies	OMIM2024Q4	RCBTB1
+607908_AR:?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue	OMIM2024Q4	LIMS2
+607922_.:NOR polyagglutination syndrome##.:[Blood group, P1Pk system, P(2) phenotype]##.:[Blood group, P1Pk system, p phenotype]	OMIM2024Q4	A4GALT
+607982_AR:Spinocerebellar ataxia, autosomal recessive 21	OMIM2024Q4	SCYL1
+608029_AR:Spinocerebellar ataxia, autosomal recessive 6	OMIM2024Q4	CLA3
+608040_AR:Bardet-Biedl syndrome 22##AR:Joubert syndrome 40##AR:Spermatogenic failure 58	OMIM2024Q4	IFT74
+608053_AR:Glutaric acidemia IIA	OMIM2024Q4	ETFA
+608092_AD:{Pancreatic cancer, susceptibility to, 1}	OMIM2024Q4	PALLD
+608107_AD:Familial Mediterranean fever, AD##AR:Familial Mediterranean fever, AR##AD:Neutrophilic dermatosis, acute febrile	OMIM2024Q4	MEFV
+608151_AR:?Spermatogenic failure 72##AR:Cranioectodermal dysplasia 4##AR:Nephronophthisis 13##AR:Senior-Loken syndrome 8##AR:Short-rib thoracic dysplasia 5 with or without polydactyly	OMIM2024Q4	WDR19
+608187_AR:?Premature ovarian failure 10	OMIM2024Q4	MCM8
+608210_AD:Exostoses, multiple, type 2##AR:Seizures, scoliosis, and macrocephaly syndrome	OMIM2024Q4	EXT2
+608222_AR:Adenylosuccinase deficiency	OMIM2024Q4	ADSL
+608226_AD:Spermatogenic failure 12	OMIM2024Q4	NANOS1
+608238_AR:Immunodeficiency 86, mycobacteriosis	OMIM2024Q4	SPPL2A
+608271_AD:Lissencephaly 9 with complex brainstem malformation	OMIM2024Q4	MACF1
+608289_AD:{Diabetes mellitus, noninsulin-dependent, susceptibility to}	OMIM2024Q4	IGF2BP2
+608305_AR:Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	OMIM2024Q4	SLC13A5
+608313_AR:Argininemia	OMIM2024Q4	ARG1
+608317_AD:van der Woude syndrome 2	OMIM2024Q4	GRHL3
+608325_AD:Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	OMIM2024Q4	PHF21A
+608348_AR:Maple syrup urine disease, type Ia	OMIM2024Q4	BCKDHA
+608364_.:[Low density lipoprotein cholesterol level QTL 8]	OMIM2024Q4	LIMA1
+608381_AR:Retinitis pigmentosa 26	OMIM2024Q4	CERKL
+608420_AD:Oocyte/zygote/embryo maturation arrest 7	OMIM2024Q4	PANX1
+608437_.:{Systemic lupus erythematosus, susceptibility to, 4}	OMIM2024Q4	SLEB4
+608444_AD:O'Donnell-Luria-Rodan syndrome	OMIM2024Q4	KMT2E
+608474_AD:Myopia 5	OMIM2024Q4	MYP5
+608498_AR:?Spermatogenic failure 66	OMIM2024Q4	ZPBP
+608526_.:Periodontitis, aggressive, 2	OMIM2024Q4	PDON2
+608528_AR:Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis	OMIM2024Q4	PIGU
+608548_AD:{Macular degeneration, age-related, 1}	OMIM2024Q4	HMCN1
+608595_.:{Asthma, susceptibility to, 2}	OMIM2024Q4	NPSR1
+613768_AD/AR:{Moyamoya disease 2, susceptibility to}	OMIM2024Q4	RNF213
+613846_AR:?Meckel syndrome 8##AR:Joubert syndrome 24	OMIM2024Q4	TCTN2
+613898_AR:HMG-CoA lyase deficiency	OMIM2024Q4	HMGCL
+613924_AR:Ichthyosis, congenital, autosomal recessive 8	OMIM2024Q4	LIPN
+613984_AR:Fanconi anemia, complementation group D2	OMIM2024Q4	FANCD2
+614095_AR:PEPCK deficiency, mitochondrial	OMIM2024Q4	PCK2
+614150_AR:Rhizomelic limb shortening with dysmorphic features	OMIM2024Q4	PKDCC
+614210_.:{Lung cancer susceptibility 5}	OMIM2024Q4	LNCR5
+614220_.:Biliary cirrhosis, primary, 4	OMIM2024Q4	PBC4
+614223_.:Narcolepsy 6	OMIM2024Q4	NRCLP6
+614232_AR:Apparent mineralocorticoid excess	OMIM2024Q4	HSD11B2
+614243_AD/AR:5-oxoprolinase deficiency	OMIM2024Q4	OPLAH
+614283_.:{Glucocorticoid therapy, response to}	OMIM2024Q4	GLCCI1
+614336_AR:Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	OMIM2024Q4	PAM16
+614386_AD:Convulsions, familial infantile, with paroxysmal choreoathetosis##AD:Episodic kinesigenic dyskinesia 1##AD:Seizures, benign familial infantile, 2	OMIM2024Q4	PRRT2
+614574_AR:Kohlschutter-Tonz syndrome	OMIM2024Q4	ROGDI
+614667_AR:Combined oxidative phosphorylation deficiency 10	OMIM2024Q4	MTO1
+614676_AD:Cardiomyopathy, hypertrophic, 21	OMIM2024Q4	CMH21
+614698_AR:Mitochondrial complex IV deficiency, nuclear type 11	OMIM2024Q4	COX20
+614718_DR:?Roifman-Chitayat syndrome, digenic	OMIM2024Q4	KNSTRN
+610707_.:{Psoriasis susceptibility 8}	OMIM2024Q4	PSORS8
+610746_AR:Congenital disorder of glycosylation, type Im	OMIM2024Q4	DOLK
+610766_AR:Heterotaxy, visceral, 9, autosomal, with male infertility	OMIM2024Q4	MNS1
+610804_AR:Schneckenbecken dysplasia	OMIM2024Q4	SLC35D1
+610873_.:{Menarche, age at, QTL}	OMIM2024Q4	MENAQ1
+610898_.:Supranuclear palsy, progressive, 3	OMIM2024Q4	PSNP3
+610936_AR:Neu-Laxova syndrome 2##AR:Phosphoserine aminotransferase deficiency	OMIM2024Q4	PSAT1
+610948_.:{Hypertension, essential, susceptibility to, 7}	OMIM2024Q4	HYT7
+610970_AR:Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	OMIM2024Q4	TRAPPC2L
+611045_AR:Dursun syndrome##AR:Neutropenia, severe congenital 4, autosomal recessive	OMIM2024Q4	G6PC3
+611052_AD:Epilepsy, early-onset, 2, with or without developmental delay##AD:Neurodevelopmental disorder with speech impairment and dysmorphic facies	OMIM2024Q4	SETD1A
+611075_AR:Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	OMIM2024Q4	DPH5
+611104_AR:Charcot-Marie-Tooth disease, type 4H	OMIM2024Q4	FGD4
+611154_.:{Alzheimer disease-14}	OMIM2024Q4	AD14
+611177_AR:Short-rib thoracic dysplasia 2 with or without polydactyly	OMIM2024Q4	IFT80
+611279_AR:?Meckel syndrome 12##AR:Microcephaly 20, primary, autosomal recessive	OMIM2024Q4	KIF14
+611351_AR:?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	OMIM2024Q4	INTS8
+611364_AD:Myoclonic epilepsy, juvenile, 4	OMIM2024Q4	EJM4
+611496_AD/AR:Congenital heart defects, multiple types, 5	OMIM2024Q4	GATA5
+611531_AR:Bowen-Conradi syndrome	OMIM2024Q4	EMG1
+611605_AD:Spastic paraplegia 18A, autosomal dominant##AR:Spastic paraplegia 18B, autosomal recessive	OMIM2024Q4	ERLIN2
+611630_AD:Epilepsy, familial temporal lobe, 3	OMIM2024Q4	FMTLE
+611632_AD:Corneal dystrophy, Schnyder type	OMIM2024Q4	UBIAD1
+615792_AD:{Thiopurines, poor metabolism of, 2}	OMIM2024Q4	NUDT15
+615900_AR:Retinitis pigmentosa 75	OMIM2024Q4	AGBL5
+615902_AR:Myoectodermal gonadal dysgenesis syndrome##AD:Spermatogenic failure 36	OMIM2024Q4	PPP2R3C
+615903_AD:?Myopathy, isolated mitochondrial, autosomal dominant##AD:Frontotemporal dementia and/or amyotrophic lateral sclerosis 2##AD:Spinal muscular atrophy, Jokela type	OMIM2024Q4	CHCHD10
+615951_AD:Acromelic frontonasal dysostosis##AD:Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	OMIM2024Q4	ZSWIM6
+616023_AD:Fliedner-Zweier syndrome	OMIM2024Q4	SCAF4
+616178_AR:Deafness, autosomal recessive 99	OMIM2024Q4	TMEM132E
+616213_AD:Intellectual developmental disorder, autosomal dominant 64	OMIM2024Q4	ZNF292
+616254_AD:3-methylglutaconic aciduria, type VIIA, autosomal dominant##AR:3-methylglutaconic aciduria, type VIIB, autosomal recessive##AD:Neutropenia, severe congenital, 9, autosomal dominant	OMIM2024Q4	CLPB
+616312_AR:Cataract 46, juvenile-onset##AD:Marbach-Rustad progeroid syndrome	OMIM2024Q4	LEMD2
+616506_AD:Hypogonadotropic hypogonadism 25 with anosmia	OMIM2024Q4	NDNF
+608631_IC/Mu:{Asperger syndrome susceptibility 2}	OMIM2024Q4	ASPG2
+608668_AD:Intellectual developmental disorder, autosomal dominant 30	OMIM2024Q4	ZMYND11
+608671_AD:?Mitral valve prolapse 3##AR:Spermatogenic failure 47	OMIM2024Q4	DZIP1
+608679_AR:Galloway-Mowat syndrome 4	OMIM2024Q4	TP53RK
+608684_AR:?Seckel syndrome 7	OMIM2024Q4	NIN
+608699_AR:Diaphanospondylodysostosis	OMIM2024Q4	BMPER
+608736_AD:?Hyperostosis cranalis interna##AR:Hypermanganesemia with dystonia 2	OMIM2024Q4	SLC39A14
+608744_AD:Fontaine progeroid syndrome	OMIM2024Q4	SLC25A24
+608752_AD:Retinal degeneration, late-onset, autosomal dominant	OMIM2024Q4	C1QTNF5
+608770_AR:Pyruvate dehydrogenase E2 deficiency	OMIM2024Q4	DLAT
+608803_AR:?Spastic paraplegia 44, autosomal recessive##AR:Leukodystrophy, hypomyelinating, 2##AD:Lymphatic malformation 3	OMIM2024Q4	GJC2
+608831_.:{Restless legs syndrome 2}	OMIM2024Q4	RLS2
+608841_AR:Anterior segment dysgenesis 8	OMIM2024Q4	CPAMD8
+608846_AD:?Spastic paraplegia 73, autosomal dominant	OMIM2024Q4	CPT1C
+608932_.:Keratoconus 2	OMIM2024Q4	KTCN2
+608961_AD:?Cataract 50 with or without glaucoma##AD:Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	OMIM2024Q4	TRPM3
+609018_AR:Holocarboxylase synthetase deficiency	OMIM2024Q4	HLCS
+609025_.:{Pseudofolliculitis barbae, susceptibility to}	OMIM2024Q4	KRT75
+609116_.:[Respiratory rhythmicity in sleep]	OMIM2024Q4	RRIS
+609132_AD:Cleft palate, psychomotor retardation, and distinctive facial features##AD:{ACTH-independent macronodular adrenal hyperplasia 3}	OMIM2024Q4	KDM1A
+609144_AR:Ataxia, posterior column, with retinitis pigmentosa	OMIM2024Q4	FLVCR1
+609213_AD:?Neutropenia, severe congenital, 11, autosomal dominant##AD:Immunodeficiency, common variable, 15##AD:Tubulointerstitial kidney disease, autosomal dominant, 5	OMIM2024Q4	SEC61A1
+609259_Mu:Myopia 10	OMIM2024Q4	MYP10
+609261_.:Stuttering, familial persistent, 2	OMIM2024Q4	STUT2
+609262_AR:Intellectual developmental disorder, autosomal recessive 2	OMIM2024Q4	CRBN
+609276_AR:Microcephaly 22, primary, autosomal recessive	OMIM2024Q4	NCAPD3
+609280_AR:Pulmonary venoocclusive disease 2	OMIM2024Q4	EIF2AK4
+609312_AR:Orthostatic hypotension 1, due to DBH deficiency	OMIM2024Q4	DBH
+609353_AR:Juberg-Hayward syndrome##AR:Roberts-SC phocomelia syndrome	OMIM2024Q4	ESCO2
+609354_.:[Bone mineral density QTL 5]	OMIM2024Q4	BMND5
+609367_AR:Goldberg-Shprintzen megacolon syndrome	OMIM2024Q4	KIFBP
+609383_AR:Ichthyosis, congenital, autosomal recessive 6	OMIM2024Q4	NIPAL4
+609454_AD:Supranuclear palsy, progressive, 2	OMIM2024Q4	PSNP2
+609471_AR:Spastic paraplegia 46, autosomal recessive	OMIM2024Q4	GBA2
+609681_AR:Deafness and myopia	OMIM2024Q4	SLITRK6
+611693_AR:Congenital short bowel syndrome	OMIM2024Q4	CLMP
+611716_AR:Cutis laxa, autosomal recessive, type IIA##AR:Wrinkly skin syndrome	OMIM2024Q4	ATP6V0A2
+611907_AD:Episodic ataxia, type 7	OMIM2024Q4	EA7
+611908_AR:Congenital disorder of glycosylation, type In	OMIM2024Q4	RFT1
+612006_.:{Celiac disease, susceptibility to, 8}	OMIM2024Q4	CELIAC8
+612008_.:{Celiac disease, susceptibility to, 10}	OMIM2024Q4	CELIAC10
+612074_AR:?Alopecia, neurologic defects, and endocrinopathy syndrome	OMIM2024Q4	RBM28
+612123_AR:?Mitochondrial myopathy with lactic acidosis	OMIM2024Q4	PNPLA8
+612176_AR:Bone marrow failure syndrome 4	OMIM2024Q4	MYSM1
+612238_.:{Scoliosis, idiopathic, susceptibility to, 4}	OMIM2024Q4	IS4
+612263_.:{Melanoma, cutaneous malignant, 7}	OMIM2024Q4	CMM7
+612311_.:{Attention deficit-hyperactivity disorder, susceptibility to, 5}	OMIM2024Q4	ADHD5
+612316_AD/AR:Harel-Yoon syndrome##AR:Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	OMIM2024Q4	ATAD3A
+612325_AR:Endocrine-cerebroosteodysplasia##AD:{Epilepsy, juvenile myoclonic, susceptibility to, 10}	OMIM2024Q4	CILK1
+612358_AD:Angioedema, hereditary, 6##AR:[High molecular weight kininogen deficiency]##AR:[Kininogen deficiency]	OMIM2024Q4	KNG1
+612367_.:{Alkaline phosphatase, plasma level of, QTL 2}	OMIM2024Q4	ALPQTL2
+612378_.:{Systemic lupus erythematosus, susceptibility to, 13}	OMIM2024Q4	SLEB13
+612401_.:{Osteoarthritis susceptibility 6}	OMIM2024Q4	OS6
+612414_AR:Deafness, autosomal recessive 63	OMIM2024Q4	LRTOMT
+612448_.:{Age-related hearing impairment 1}	OMIM2024Q4	ARHI1
+612458_AR:Developmental and epileptic encephalopathy 76##AD:Intellectual developmental disorder with severe speech and ambulation defects	OMIM2024Q4	ACTL6B
+612502_AR:3MC syndrome 2	OMIM2024Q4	COLEC11
+612515_AR:Woodhouse-Sakati syndrome	OMIM2024Q4	DCAF17
+612584_AR:?Deafness, autosomal recessive 115	OMIM2024Q4	SPNS2
+612622_.:{Diabetes mellitus, insulin-dependent, 23}	OMIM2024Q4	IDDM23
+612635_.:{Microvascular complications of diabetes, susceptibility to, 7}	OMIM2024Q4	MVCD7
+612676_AR:Hyperphenylalaninemia, BH4-deficient, C	OMIM2024Q4	QDPR
+612800_AR:Combined oxidative phosphorylation deficiency 27	OMIM2024Q4	CARS2
+614759_AR:Heterotaxy, visceral, 6, autosomal recessive	OMIM2024Q4	CFAP53
+614802_AD:Karayol-Borroto-Haghshenas neurodevelopmental syndrome	OMIM2024Q4	MSL2
+614825_AR:?Neurodegeneration with brain iron accumulation 7	OMIM2024Q4	REPS1
+614927_AR:Ectodermal dysplasia 5, hair/nail type	OMIM2024Q4	ECTD5
+614998_AD:GAND syndrome	OMIM2024Q4	GATAD2B
+615000_AR:Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	OMIM2024Q4	TECPR2
+615003_AR:Spastic paraplegia 54, autosomal recessive	OMIM2024Q4	DDHD2
+615022_AR:Ichthyosis, congenital, autosomal recessive 7	OMIM2024Q4	ARCI7
+615068_AR:Vici syndrome	OMIM2024Q4	EPG5
+615292_AD:Gracile bone dysplasia##AD:Kenny-Caffey syndrome, type 2	OMIM2024Q4	FAM111A
+615302_AR:Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	OMIM2024Q4	ADAT3
+615316_AR:?Spastic paraplegia 74, autosomal recessive##AR:Multiple mitochondrial dysfunctions syndrome 3	OMIM2024Q4	IBA57
+615332_AD:?Immunodeficiency, common variable, 14	OMIM2024Q4	IRF2BP2
+615370_AR:Nephronophthisis 16	OMIM2024Q4	ANKS6
+615403_AR:Beaulieu-Boycott-Innes syndrome	OMIM2024Q4	THOC6
+615421_AD:Myopia 22, autosomal dominant	OMIM2024Q4	PRIMPOL
+615427_AD:?Deafness, autosomal dominant 81##AR:?Deafness, autosomal recessive 88	OMIM2024Q4	ELMOD3
+615586_AR:Morbid obesity and spermatogenic failure	OMIM2024Q4	CEP19
+615587_AR:Sandestig-Stefanova syndrome	OMIM2024Q4	NUP188
+615620_AR:Intellectual developmental disorder, autosomal recessive 41	OMIM2024Q4	KPTN
+615730_AR:Developmental and epileptic encephalopathy 23	OMIM2024Q4	DOCK7
+609736_AR:?PEHO syndrome-like	OMIM2024Q4	CCDC88A
+609743_AD:Charcot-Marie-Tooth disease, axonal, type 2FF	OMIM2024Q4	CADM3
+609745_.:Glaucoma 1, open angle, I	OMIM2024Q4	GLC1I
+609750_.:{Epilepsy, idiopathic generalized, susceptibility to 4}	OMIM2024Q4	EIG4
+609763_AR:Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities	OMIM2024Q4	PI4K2A
+609790_.:Alzheimer disease-11	OMIM2024Q4	AD11
+609799_.:?Nephronophthisis 9##AD:Polycystic kidney disease 8##AR:Renal-hepatic-pancreatic dysplasia 2	OMIM2024Q4	NEK8
+609802_AR:Albinism, oculocutaneous, type VI##AR:[Skin/hair/eye pigmentation 4, fair/dark skin]	OMIM2024Q4	SLC24A5
+609856_AR:?Spermatogenic failure 6	OMIM2024Q4	SPATA16
+609946_AR:Deafness, neurosensory, autosomal recessive 47	OMIM2024Q4	DFNB47
+609947_AR:Combined oxidative phosphorylation deficiency 54	OMIM2024Q4	PRORP
+609954_.:{Asperger syndrome susceptibility 4}	OMIM2024Q4	ASPG4
+610079_.:{Autoimmune disease, susceptibility to, 6}	OMIM2024Q4	SIAE
+610094_AR:Immunodeficiency 87 and autoimmunity	OMIM2024Q4	DEF6
+610108_AR:?Intestinal dysmotility syndrome##AD/AR:Moyamoya disease 7	OMIM2024Q4	ANO1
+610132_AD:Caudal regression syndrome##AD:{Neural tube defects, susceptibility to}	OMIM2024Q4	VANGL1
+610172_AR:Spermatogenic failure 43	OMIM2024Q4	SPEF2
+610197_AR:Basel-Vanagait-Smirin-Yosef syndrome	OMIM2024Q4	MED25
+610206_.:Corneal dystrophy, Fuchs endothelial, 4##AR:Corneal endothelial dystrophy and perceptive deafness##AR:Corneal endothelial dystrophy, autosomal recessive	OMIM2024Q4	SLC4A11
+610263_AR:Ciliary dyskinesia, primary, 34	OMIM2024Q4	DNAJB13
+610339_AR:Osteogenesis imperfecta, type VIII	OMIM2024Q4	P3H1
+610350_AR:Intellectual developmental disorder, autosomal recessive 27	OMIM2024Q4	LINS1
+610389_AR:Immunodeficiency due to defect in MAPBP-interacting protein	OMIM2024Q4	LAMTOR2
+610438_.:{Restless legs syndrome 3}	OMIM2024Q4	RLS3
+610511_AD/AR:Craniolenticulosutural dysplasia	OMIM2024Q4	SEC23A
+610533_.:[Memory, enhanced, QTL]	OMIM2024Q4	WWC1
+610554_AR:Neurodevelopmental disorder with spasticity and poor growth	OMIM2024Q4	UFC1
+610595_AR:Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	OMIM2024Q4	FLAD1
+610670_AR:Spastic paraplegia 56, autosomal recessive	OMIM2024Q4	CYP2U1
+610732_AR:Ciliary dyskinesia, primary, 45	OMIM2024Q4	TTC12
+610739_AD:?Epilepsy, familial adult myoclonic, 6	OMIM2024Q4	TNRC6A
+610760_.:[Cholesterol level QTL 2]	OMIM2024Q4	CLQTL2
+610761_.:[High density lipoprotein cholesterol level QTL 5]	OMIM2024Q4	HDLCQ5
+616646_AR:Woolly hair, autosomal recessive 3	OMIM2024Q4	KRT25
+616815_AR:Congenital disorder of glycosylation, type IIp	OMIM2024Q4	TMEM199
+617455_AD:?Immunodeficiency 101 (varicella zoster virus-specific)	OMIM2024Q4	POLR3F
+617538_AR:Shwachman-Diamond syndrome 2	OMIM2024Q4	EFL1
+617558_AD:Hydrocephalus, normal pressure, 1##AR:Spermatogenic failure 19	OMIM2024Q4	CFAP43
+617608_AR:Cardiomyopathy, familial hypertrophic 27	OMIM2024Q4	ALPK3
+617612_AR:Joubert syndrome 30	OMIM2024Q4	ARMC9
+617687_AR:Pontocerebellar hypoplasia, type 11	OMIM2024Q4	TBC1D23
+612883_.:{Menarche, age at, QTL3}	OMIM2024Q4	MENAQ3
+612884_.:{Menopause, natural, age at, QTL2}	OMIM2024Q4	MENOQ2
+612898_AR:Coenzyme Q10 deficiency, primary, 7##AR:Spastic ataxia 10, autosomal recessive	OMIM2024Q4	COQ4
+612901_AD:Macrothrombocytopenia, isolated, 1, autosomal dominant	OMIM2024Q4	TUBB1
+612958_AR:Mitochondrial complex IV deficiency, nuclear type 8	OMIM2024Q4	TACO1
+612959_AR:?Deafness, autosomal recessive 109	OMIM2024Q4	ESRP1
+613012_AR:?Urocanase deficiency	OMIM2024Q4	UROC1
+613022_AR:Oxoglutarate dehydrogenase deficiency	OMIM2024Q4	OGDH
+613030_.:{Glioma susceptibility 5}	OMIM2024Q4	GLM5
+613061_.:{Basal cell carcinoma, susceptibility to, 4}	OMIM2024Q4	BCC4
+613114_AR:Neuropathy, hereditary sensory and autonomic, type IIB	OMIM2024Q4	RETREG1
+613171_AD:Cardiomyopathy, dilated, 1DD	OMIM2024Q4	RBM20
+613175_AR:Alzahrani-Kuwahara syndrome	OMIM2024Q4	SMG8
+613207_.:{Asthma-related traits, susceptibility to, 8}	OMIM2024Q4	ASRT8
+613228_AR:Aspartylglucosaminuria	OMIM2024Q4	AGA
+613247_AD:Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant	OMIM2024Q4	PLIN4
+613282_Mu:{Fatty liver disease, susceptibility to, 1}	OMIM2024Q4	NAFLD1
+613349_AR:Gyrate atrophy of choroid and retina with or without ornithinemia	OMIM2024Q4	OAT
+613413_AD:Leukodystrophy, hypomyelinating, 16	OMIM2024Q4	TMEM106B
+613420_AD:Scalp-ear-nipple syndrome	OMIM2024Q4	KCTD1
+613437_AR:Immunodeficiency 76	OMIM2024Q4	FCHO1
+613440_.:{Stature QTL 21}	OMIM2024Q4	STQTL21
+613468_AR:Farber lipogranulomatosis##AR:Spinal muscular atrophy with progressive myoclonic epilepsy	OMIM2024Q4	ASAH1
+613498_.:[Sex hormone-binding globulin circulating level QTL 1]	OMIM2024Q4	SXGQTL1
+613545_.:Macrostomia	OMIM2024Q4	MACST
+613548_.:{Stature QTL 23}	OMIM2024Q4	STQTL23
+613580_AR:Bardet-Biedl syndrome 15##AR:Congenital heart defects, hamartomas of tongue, and polysyndactyly	OMIM2024Q4	WDPCP
+613621_AR:Mitochondrial complex I deficiency, nuclear type 21	OMIM2024Q4	NUBPL
+613655_AD:{Migraine, with or without aura, susceptibility to, 13}	OMIM2024Q4	KCNK18
+613689_AD:Mammary-digital-nail syndrome	OMIM2024Q4	MDNS
+613741_AR:Glycogen storage disease VI	OMIM2024Q4	PYGL
+613742_AR:Glycogen storage disease Ia	OMIM2024Q4	G6PC1
+610839_.:{Osteoarthritis susceptibility 4}	OMIM2024Q4	OS4
+610865_AR:Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	OMIM2024Q4	FLVCR2
+610897_AD:Cataract 31, multiple types	OMIM2024Q4	CHMP4B
+610917_AR:Orofaciodigital syndrome XX	OMIM2024Q4	RAB34
+610926_.:Tooth agenesis, selective, 5	OMIM2024Q4	STHAG5
+610991_AR:3-M syndrome 2	OMIM2024Q4	OBSL1
+611014_.:{Hypertension, essential, susceptibility to, 8}	OMIM2024Q4	HYT8
+611026_AR:Spastic paraplegia 35, autosomal recessive	OMIM2024Q4	FA2H
+611051_AD:?Deafness, autosomal dominant 44	OMIM2024Q4	CCDC50
+611107_AR:Intellectual developmental disorder, autosomal recessive 4	OMIM2024Q4	MRT4
+611140_AR:You-Hoover-Fong syndrome	OMIM2024Q4	TELO2
+611223_AD:Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	OMIM2024Q4	AKT3
+611236_AR:Osteogenesis imperfecta, type XIV	OMIM2024Q4	TMEM38B
+611247_.:Major affective disorder 4	OMIM2024Q4	MAFD4
+611270_AR:Developmental and epileptic encephalopathy 107	OMIM2024Q4	NAPB
+611360_AR:Fanconi anemia, complementation group I	OMIM2024Q4	FANCI
+611409_AR:Albinism, brown oculocutaneous##AR:Albinism, oculocutaneous, type II##AR:[Skin/hair/eye pigmentation 1, blond/brown hair]##AR:[Skin/hair/eye pigmentation 1, blue/nonblue eyes]	OMIM2024Q4	OCA2
+611456_.:Essential tremor, hereditary, 3	OMIM2024Q4	ETM3
+611515_.:Febrile seizures, familial, 7	OMIM2024Q4	45695
+611535_.:{Major affective disorder 5}	OMIM2024Q4	MAFD5
+611542_AR:Mucopolysaccharidosis type VI (Maroteaux-Lamy)	OMIM2024Q4	ARSB
+611592_AR:Combined oxidative phosphorylation deficiency 14##AR:Spastic paraplegia 77, autosomal recessive	OMIM2024Q4	FARS2
+611648_AR:Deafness, autosomal recessive 100	OMIM2024Q4	PPIP5K2
+611654_AR:Joubert syndrome 21	OMIM2024Q4	CSPP1
+615790_AD:Xia-Gibbs syndrome	OMIM2024Q4	AHDC1
+615949_AD:Nanophthalmos 4	OMIM2024Q4	TMEM98
+616107_AD:Cataracts, spastic paraparesis, and speech delay##AR:Peroxisomal fatty acyl-CoA reductase 1 disorder	OMIM2024Q4	FAR1
+616183_AR:?Joubert syndrome 29##AR:Meckel syndrome 13##AR:Orofaciodigital syndrome XVI	OMIM2024Q4	TMEM107
+616283_AR:Neurodevelopmental disorder with microcephaly and gray sclerae	OMIM2024Q4	PUS3
+616359_AR:?Coenzyme Q10 deficiency, primary, 9	OMIM2024Q4	COQ5
+616423_AD:Neurodevelopmental disorder with variable motor and speech impairment	OMIM2024Q4	DHX30
+616458_AR:Neuropathy, hereditary sensory and autonomic, type VIII	OMIM2024Q4	PRDM12
+616655_AR:?Cataract 45	OMIM2024Q4	SIPA1L3
+616661_AD:Charcot-Marie-Tooth disease, axonal, type 2Z##AD:Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	OMIM2024Q4	MORC2
+616662_AR:Neurodevelopmental disorder with speech delay and variable ocular anomalies	OMIM2024Q4	THUMPD1
+616712_AD:Epilepsy, familial adult myoclonic, 2	OMIM2024Q4	STARD7
+616830_AR:Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	OMIM2024Q4	TANGO2
+616846_AR:Cerebellar atrophy, visual impairment, and psychomotor retardation	OMIM2024Q4	EMC1
+613938_AD/Mu:Parasomnia, sleepwalking type	OMIM2024Q4	PSMNSW
+613944_?AD:{IgA nephropathy, susceptibility to, 2}	OMIM2024Q4	IGAN2
+613969_AD:Myopia 19	OMIM2024Q4	MYP19
+613979_AD:Retinitis pigmentosa 60	OMIM2024Q4	PRPF6
+614010_AR:Chondrodysplasia with joint dislocations, GPAPP type	OMIM2024Q4	BPNT2
+614084_AR:Oocyte/zygote/embryo maturation arrest 5	OMIM2024Q4	WEE2
+614086_AR:Ciliary dyskinesia, primary, 42	OMIM2024Q4	MCIDAS
+614092_AD:Oculopharyngodistal myopathy 4	OMIM2024Q4	RILPL1
+614145_AR:3-M syndrome 3	OMIM2024Q4	CCDC8
+614166_.:Myopia 20, autosomal dominant	OMIM2024Q4	MYP20
+614237_AR:Hypotrichosis 9	OMIM2024Q4	HYPT9
+614258_AR:Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism##AR:Wiedemann-Rautenstrauch syndrome	OMIM2024Q4	POLR3A
+614295_AD:{Renal dysplasia, cystic, susceptibility to}	OMIM2024Q4	BICC1
+614312_AR:?Spermatogenic failure 14	OMIM2024Q4	ZMYND15
+614397_AR:Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	OMIM2024Q4	MFSD2A
+614425_AR:Neurodevelopmental disorder with microcephaly and movement abnormalities	OMIM2024Q4	TTI1
+614477_AR:Bardet-Biedl syndrome 21##AR:Cone-rod dystrophy 16##AR:Retinitis pigmentosa 64	OMIM2024Q4	CFAP418
+614511_AR:Lymphatic malformation 12	OMIM2024Q4	MDFIC
+614545_AR:Neurodevelopmental disorder with dysmorphic facies and variable seizures	OMIM2024Q4	EMC10
+614591_AD:Deafness, autosomal dominant 4B##AR:Deafness, autosomal recessive 113	OMIM2024Q4	CEACAM16
+614603_AR:Spastic paraplegia 28, autosomal recessive	OMIM2024Q4	DDHD1
+614610_AR:Nephrotic syndrome, type 16##AR:Palmoplantar keratoderma and woolly hair	OMIM2024Q4	KANK2
+614622_AD:Keratoconus 5	OMIM2024Q4	KTCN5
+614623_AD:Keratoconus 6	OMIM2024Q4	KTCN6
+614629_AD:Keratoconus 7	OMIM2024Q4	KTCN7
+614644_.:Mean platelet volume QTL4	OMIM2024Q4	MPVQTL4
+614666_AD:?Centronuclear myopathy 4	OMIM2024Q4	CCDC78
+618016_AR:Pituitary hormone deficiency, combined or isolated, 7	OMIM2024Q4	RNPC3
+618163_AR:Intellectual developmental disorder with cardiac defects and dysmorphic facies	OMIM2024Q4	TMEM94
+618255_AR:Basal ganglia calcification, idiopathic, 7, autosomal recessive	OMIM2024Q4	MYORG
+618277_AR:FINCA syndrome	OMIM2024Q4	NHLRC2
+611761_AR:Lipase deficiency, combined	OMIM2024Q4	LMF1
+611778_AD:Brugada syndrome 2	OMIM2024Q4	GPD1L
+611849_AR:Combined oxidative phosphorylation deficiency 16	OMIM2024Q4	MRPL44
+611910_AD:Cataract 47, juvenile, with microcornea	OMIM2024Q4	SLC16A12
+611911_AR:Myopathy with lactic acidosis, hereditary	OMIM2024Q4	ISCU
+611934_.:{Epilepsy, idiopathic generalized, susceptibility to, 5}	OMIM2024Q4	EIG5
+611935_AR:Homocystinuria-megaloblastic anemia, cblD type##AR:Methylmalonic aciduria and homocystinuria, cblD type##AR:Methylmalonic aciduria, cblD type	OMIM2024Q4	MMADHC
+611978_AR:?Combined oxidative phosphorylation deficiency 38	OMIM2024Q4	MRPS14
+611990_AR:?Combined oxidative phosphorylation deficiency 47	OMIM2024Q4	MRPS28
+611994_AR:Combined oxidative phosphorylation deficiency 32	OMIM2024Q4	MRPS34
+612012_AR:Spastic paraplegia 15, autosomal recessive	OMIM2024Q4	ZFYVE26
+612024_AR:Neurodevelopmental disorder with hypotonia and seizures	OMIM2024Q4	OTUD7A
+612034_AR:Cortical dysplasia, complex, with other brain malformations 10##AR:Intellectual developmental disorder, autosomal recessive 74	OMIM2024Q4	APC2
+612083_.:Muscle strength quantitative trait locus 1	OMIM2024Q4	MUSTQTL1
+612228_.:{Stature QTL 14}	OMIM2024Q4	STQTL14
+612230_.:{Colorectal cancer, susceptibility to, 5}	OMIM2024Q4	CRCS5
+612241_.:{Inflammatory bowel disease 12}	OMIM2024Q4	IBD12
+612283_AD:Thrombophilia 3 due to protein C deficiency, autosomal dominant##AR:Thrombophilia 3 due to protein C deficiency, autosomal recessive	OMIM2024Q4	PROC
+612306_.:[Thyroid-stimulating hormone level QTL 1]	OMIM2024Q4	TSHQTL1
+612315_AD:Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	OMIM2024Q4	KRT6C
+612335_AD:Spastic paraplegia 38, autosomal dominant	OMIM2024Q4	SPG38
+612349_AR:Phenylketonuria##AR:[Hyperphenylalaninemia, non-PKU mild]	OMIM2024Q4	PAH
+612424_AR:Retinitis pigmentosa 25	OMIM2024Q4	EYS
+612465_.:{Diabetes mellitus, noninsulin-dependent, 5}	OMIM2024Q4	TBC1D4
+612487_AR:Immunodeficiency 115 with autoinflammation	OMIM2024Q4	RNF31
+612578_.:{Stature QTL 15}	OMIM2024Q4	STQTL15
+612594_.:{Multiple sclerosis, susceptibility to, 2}	OMIM2024Q4	MS2
+612661_AR:Dyskeratosis congenita, autosomal recessive 3	OMIM2024Q4	WRAP53
+612727_.:[Bone mineral density QTL 13]	OMIM2024Q4	BMND13
+612728_.:[Bone mineral density QTL 14]	OMIM2024Q4	BMND14
+612739_AR:?Spermatogenic failure 85	OMIM2024Q4	SPACA1
+617103_AR:Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies	OMIM2024Q4	ZNF668
+617170_AR:Retinitis pigmentosa with or without skeletal anomalies	OMIM2024Q4	CWC27
+617242_AR:Ventricular tachycardia, catecholaminergic polymorphic, 3	OMIM2024Q4	TECRL
+617278_AR:Developmental and epileptic encephalopathy 49	OMIM2024Q4	DENND5A
+617332_AR:Spermatogenic failure 60	OMIM2024Q4	TERB1
+617387_AD:Ververi-Brady syndrome	OMIM2024Q4	QRICH1
+617413_AR:Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	OMIM2024Q4	PRUNE1
+617491_AR:Combined oxidative phosphorylation deficiency 48	OMIM2024Q4	NSUN3
+617509_AD:?Retinitis pigmentosa 97	OMIM2024Q4	VWA8
+617539_AR:Retinitis pigmentosa 32	OMIM2024Q4	CLCC1
+617631_AR:Polydactyly, postaxial, type A7	OMIM2024Q4	IQCE
+614784_AR:Cone-rod dystrophy 20	OMIM2024Q4	POC1B
+614864_AR:Ciliary dyskinesia, primary, 18	OMIM2024Q4	DNAAF5
+614884_AR:?Spinocerebellar ataxia, autosomal recessive 22	OMIM2024Q4	VWA3B
+614888_AD:Keratoderma, palmoplantar, punctate type IA	OMIM2024Q4	AAGAB
+614925_AR:Deafness, autosomal recessive 84B	OMIM2024Q4	OTOGL
+615197_.:{Restless legs syndrome 8}	OMIM2024Q4	RLS8
+615288_AR:Ciliary dyskinesia, primary, 21##AR:Spermatogenic failure 80	OMIM2024Q4	DRC1
+615408_AR:Ciliary dyskinesia, primary, 23	OMIM2024Q4	ODAD2
+615416_AR:?Camptosynpolydactyly, complex##AR:Syndactyly, mesoaxial synostotic, with phalangeal reduction	OMIM2024Q4	BHLHA9
+615521_AR:Congenital myopathy 13	OMIM2024Q4	STAC3
+615638_AR:Microcephaly 21, primary, autosomal recessive	OMIM2024Q4	NCAPD2
+615667_AR:Bone marrow failure syndrome 2	OMIM2024Q4	ERCC6L2
+615743_AD:Intellectual developmental disorder, autosomal dominant 23	OMIM2024Q4	SETD5
+615781_AD:{Psoriasis 15, pustular, susceptibility to}	OMIM2024Q4	AP1S3
+615787_AR:2,4-dienoyl-CoA reductase deficiency	OMIM2024Q4	NADK2
+612779_AR:5-fluorouracil toxicity##AR:Dihydropyrimidine dehydrogenase deficiency	OMIM2024Q4	DPYD
+612850_AD:Cortical dysplasia, complex, with other brain malformations 7	OMIM2024Q4	TUBB2B
+612893_.:{Stature QTL 19}	OMIM2024Q4	STQTL19
+613004_AD:Huntington disease##AR:Lopes-Maciel-Rodan syndrome	OMIM2024Q4	HTT
+613008_.:{Biliary cirrhosis, primary, 3}	OMIM2024Q4	PBC3
+613015_.:{Neuroblastoma, susceptibility to, 4}	OMIM2024Q4	NBLST4
+613031_.:{Glioma susceptibility 6}	OMIM2024Q4	GLM6
+613037_AR:Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome##AR:Joubert syndrome 1	OMIM2024Q4	INPP5E
+613064_.:{Dermatitis, atopic, susceptibility to, 7}	OMIM2024Q4	ATOD7
+613084_AD:Intellectual developmental disorder, autosomal dominant 39	OMIM2024Q4	MYT1L
+613109_AR:GM2-gangliosidosis, AB variant	OMIM2024Q4	GM2A
+613145_.:{Systemic lupus erythematosus, susceptibility to, 14}	OMIM2024Q4	SLEB14
+613146_AD:EDICT syndrome	OMIM2024Q4	MIR184
+613208_AR:Xeroderma pigmentosum, group C	OMIM2024Q4	XPC
+613218_AR:Methemoglobinemia and ambiguous genitalia	OMIM2024Q4	CYB5A
+613277_AR:Joubert syndrome 2##AR:Meckel syndrome 2##AR:Retinitis pigmentosa 98	OMIM2024Q4	TMEM216
+613289_AD:Spinocerebellar ataxia 8	OMIM2024Q4	ATXN8
+613306_AR:Intellectual developmental disorder, autosomal recessive 71	OMIM2024Q4	ALKBH8
+613352_AR:Intellectual developmental disorder, autosomal recessive 70	OMIM2024Q4	RSRC1
+613371_AD:?Spinocerebellar ataxia 30	OMIM2024Q4	SCA30
+613397_AR:Nephrotic syndrome, type 21	OMIM2024Q4	AVIL
+613409_AR:Juvenile arthritis	OMIM2024Q4	LACC1
+613553_AR:Nephronophthisis-like nephropathy 1	OMIM2024Q4	XPNPEP3
+613598_AR:?Retinitis pigmentosa 58	OMIM2024Q4	ZNF513
+613622_AR:Mitochondrial complex I deficiency, nuclear type 19	OMIM2024Q4	FOXRED1
+613669_AR:?Spastic ataxia 4, autosomal recessive	OMIM2024Q4	MTPAP
+619109_AR:Kaya-Barakat-Masson syndrome	OMIM2024Q4	YIF1B
+619152_AR:Neurodevelopmental disorder with seizures and gingival overgrowth	OMIM2024Q4	TBC1D2B
+617963_AR:?Spermatogenic failure 30	OMIM2024Q4	TDRD9
+617987_AD:{?Deafness, autosomal recessive 26, modifier of}	OMIM2024Q4	METTL13
+618058_AR:Ciliary dyskinesia, primary, 38	OMIM2024Q4	CFAP300
+618125_AR:Premature ovarian failure 22##AR:Spermatogenic failure 88	OMIM2024Q4	KASH5
+618128_AR:Spinocerebellar ataxia, autosomal recessive 27	OMIM2024Q4	GDAP2
+618211_AR:Spinocerebellar ataxia, autosomal recessive 30	OMIM2024Q4	PITRM1
+618227_AR:Ciliary dyskinesia, primary, 39	OMIM2024Q4	LRRC56
+618319_AD:?Birt-Hogg-Dube syndrome 2	OMIM2024Q4	PRDM10
+618365_AR:Otofacial neurodevelopmental syndrome	OMIM2024Q4	ZSCAN10
+618413_AR:Joubert syndrome 36	OMIM2024Q4	FAM149B1
+618570_AD:Hydrocephalus, congenital, 4	OMIM2024Q4	TRIM71
+618586_AD:Neurooculocardiogenitourinary syndrome	OMIM2024Q4	WDR37
+618628_AR:Intellectual developmental disorder, autosomal recessive 72	OMIM2024Q4	METTL5
+618904_AR:?Developmental and epileptic encephalopathy 86	OMIM2024Q4	DALRD3
+615892_AR:Orofacial cleft 14	OMIM2024Q4	OFC14
+616101_AD:Spinocerebellar ataxia 21	OMIM2024Q4	TMEM240
+616109_AR:Hydatidiform mole, recurrent, 4	OMIM2024Q4	TOP6BL
+616136_AR:Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	OMIM2024Q4	RNF220
+616149_AR:Hyperinsulinemic hypoglycemia, familial, 8	OMIM2024Q4	SLC25A36
+616173_AR:Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	OMIM2024Q4	NSRP1
+616215_AR:Osteogenesis imperfecta, type XVI	OMIM2024Q4	CREB3L1
+616265_AR:Peeling skin syndrome 3	OMIM2024Q4	PSS3
+616361_AD:Parkinson disease 21	OMIM2024Q4	PARK21
+616422_AR:Combined oxidative phosphorylation deficiency 58	OMIM2024Q4	TEFM
+616441_AD:Corneal dystrophy, posterior polymorphous, 1	OMIM2024Q4	OVOL2
+616510_AR:?Rhizomelic dysplasia, Ain-Naz type	OMIM2024Q4	GNPNAT1
+616633_AD:Neuroocular syndrome	OMIM2024Q4	PRR12
+616648_AD:Optic atrophy 8	OMIM2024Q4	OPA8
+616715_AR:Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	OMIM2024Q4	TMX2
+616735_AR:Hypotonia, infantile, with psychomotor retardation	OMIM2024Q4	CCDC174
+613814_AR:Mitochondrial complex III deficiency, nuclear type 2	OMIM2024Q4	TTC19
+613815_AR:Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency##AR:Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	OMIM2024Q4	CYP21A2
+613816_AR:Li-Campeau syndrome	OMIM2024Q4	UBR7
+613847_AR:Joubert syndrome 18##AR:Orofaciodigital syndrome IV	OMIM2024Q4	TCTN3
+613857_AD:Orofacial cleft 13	OMIM2024Q4	OFC13
+613891_AR:Orotic aciduria	OMIM2024Q4	UMPS
+613930_AR:Alopecia-intellectual disability syndrome 3	OMIM2024Q4	APMR3
+614088_.:[Blood group, Landsteiner-Wiener]	OMIM2024Q4	ICAM4
+614106_AR:Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	OMIM2024Q4	MLIP
+614140_AD:?Facial clefting, oblique, 1##AD:Teebi hypertelorism syndrome 1	OMIM2024Q4	SPECC1L
+614158_AD:Bleeding disorder, platelet-type, 14	OMIM2024Q4	BDPLT14
+614169_AR:Gray platelet syndrome	OMIM2024Q4	NBEAL2
+614191_AR:Developmental and epileptic encephalopathy 111##AD:Epilepsy, familial focal, with variable foci 1	OMIM2024Q4	DEPDC5
+614193_.:[Transferrin serum level quantitative trait locus 2]	OMIM2024Q4	TFQTL2
+614215_.:Barrett esophagus/esophageal adenocarcinoma##AR:Spinal muscular atrophy with congenital bone fractures 2	OMIM2024Q4	ASCC1
+614252_.:Aneurysm, intracranial berry, 11	OMIM2024Q4	ANIB11
+614270_AR:Spermatogenic failure 40	OMIM2024Q4	CFAP65
+614280_AD:{Epilepsy, juvenile myoclonic, susceptibility to, 9}	OMIM2024Q4	EJM9
+614318_.:Vesicoureteral reflux 5	OMIM2024Q4	VUR5
+614352_AR:?Nephrotic syndrome, type 13	OMIM2024Q4	NUP205
+614426_AR:Intellectual developmental disorder, autosomal recessive 39	OMIM2024Q4	TTI2
+614427_AD:Aural atresia, congenital	OMIM2024Q4	TSHZ1
+614476_AD:Aortic aneurysm, familial thoracic 12	OMIM2024Q4	THSD4
+614512_AR:?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures	OMIM2024Q4	TOR1AIP1
+614589_AR:Trichohepatoenteric syndrome 1	OMIM2024Q4	SKIC3
+614628_AD:Keratoconus 8	OMIM2024Q4	KTCN8
+614649_AD:Ataxia, sensory, 1, autosomal dominant##AR:Spastic paraplegia 85, autosomal recessive	OMIM2024Q4	RNF170
+614661_AR:Oocyte/zygote/embryo maturation arrest 4	OMIM2024Q4	PATL2
+614720_AD:Developmental and epileptic encephalopathy 87	OMIM2024Q4	CDK19
+614724_AR:?Seckel syndrome 6	OMIM2024Q4	CEP63
+614747_.:[Uric acid concentration, serum, QTL6]	OMIM2024Q4	UAQTL6
+614775_AR:?Mitochondrial complex IV deficiency, nuclear type 14	OMIM2024Q4	COA3
+614776_AR:?Spondyloepimetaphyseal dysplasia, Krakow type	OMIM2024Q4	SIK3
+614783_AR:Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	OMIM2024Q4	POC1A
+614828_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8	OMIM2024Q4	POMGNT2
+614829_AR:Amelogenesis imperfecta, type IIA4	OMIM2024Q4	ODAPH
+620074_AR:Inflammatory poikiloderma with hair abnormalities and acral keratoses	OMIM2024Q4	LTV1
+618931_AR:Immunodeficiency 91 and hyperinflammation	OMIM2024Q4	ZNFX1
+619129_AR:Spermatogenic failure 49	OMIM2024Q4	CFAP58
+619285_AR:Joubert syndrome 39	OMIM2024Q4	TMEM218
+619529_AR:Spermatogenic failure 57	OMIM2024Q4	PNLDC1
+616792_.:{Neuroblastoma, susceptibility to, 7}	OMIM2024Q4	NBLST7
+616918_AR:Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy##AR:[Blood group, EMM system]	OMIM2024Q4	PIGG
+616982_AD:Patent ductus arteriosus 3	OMIM2024Q4	PRDM6
+617218_AR:Lissencephaly 8	OMIM2024Q4	TMTC3
+617221_AR:Retinitis pigmentosa 92	OMIM2024Q4	HKDC1
+617246_AR:Seckel syndrome 10	OMIM2024Q4	NSMCE2
+617378_AD/AR:Arthrogryposis, distal, type 1C	OMIM2024Q4	MYL11
+617453_AR:Biliary, renal, neurologic, and skeletal syndrome	OMIM2024Q4	IFT56
+617569_AR:?Braddock-Carey syndrome 2	OMIM2024Q4	KIF15
+614908_AR:Leukodystrophy, hypomyelinating, 13	OMIM2024Q4	HIKESHI
+614917_AR:Combined oxidative phosphorylation deficiency 11	OMIM2024Q4	RMND1
+615054_AD:Glaucoma 1, open angle, F	OMIM2024Q4	ASB10
+615187_AR:Hyperphosphatasia with impaired intellectual development syndrome 3	OMIM2024Q4	PGAP2
+615247_AR:?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12##AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	OMIM2024Q4	POMK
+615320_AR:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14##AR:Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14##AR:Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	OMIM2024Q4	GMPPB
+615463_AR:Developmental and epileptic encephalopathy 18	OMIM2024Q4	SZT2
+615494_AR:Ciliary dyskinesia, primary, 26	OMIM2024Q4	CFAP298
+615525_AR:?Immunodeficiency 128	OMIM2024Q4	COPG1
+615567_AR:Nephrotic syndrome, type 9	OMIM2024Q4	COQ8B
+615612_AD:Developmental dysplasia of the hip 2	OMIM2024Q4	DDH2
+615762_AR:?Deafness, autosomal recessive 101	OMIM2024Q4	GRXCR2
+615799_AR:Deafness, autosomal recessive 116	OMIM2024Q4	CLDN9
+615820_AD:?Giant axonal neuropathy 2, autosomal dominant	OMIM2024Q4	DCAF8
+615843_AR:Leukodystrophy, hypomyelinating, 18	OMIM2024Q4	DEGS1
+615850_AR:Pontocerebellar hypoplasia, type 2E	OMIM2024Q4	VPS53
+615876_AR:Ciliary dyskinesia, primary, 32	OMIM2024Q4	RSPH3
+100720_AD:?Myasthenic syndrome, congenital, 3A, slow-channel##AR:?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency##AR:Multiple pterygium syndrome, lethal type##AR:Myasthenic syndrome, congenital, 3B, fast-channel	OMIM2024Q4	CHRND
+100730_AR:Escobar syndrome##AR:Multiple pterygium syndrome, lethal type	OMIM2024Q4	CHRNG
+102770_AR:Myopathy due to myoadenylate deaminase deficiency	OMIM2024Q4	AMPD1
+102772_AR:[AMP deaminase deficiency, erythrocytic]	OMIM2024Q4	AMPD3
+104160_AD:Polycystic kidney disease 3	OMIM2024Q4	GANAB
+620187_AR:Ciliary dyskinesia, primary, 49, without situs inversus	OMIM2024Q4	CFAP74
+620215_AR:Deafness, autosomal recessive 120	OMIM2024Q4	MINAR2
+620381_AR:Spermatogenic failure 84	OMIM2024Q4	CFAP61
+617778_AR:Meckel syndrome 14	OMIM2024Q4	TXNDC15
+618064_AR:Mitochondrial complex IV deficiency, nuclear type 22	OMIM2024Q4	COX16
+618146_AR:Spermatogenic failure 33	OMIM2024Q4	CFAP251
+618159_AR:Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	OMIM2024Q4	PPP1R21
+618203_AR:?Deafness, autosomal recessive 122	OMIM2024Q4	TMTC4
+618269_AR:Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections	OMIM2024Q4	ZNF341
+618424_AR:Spermatogenic failure 38	OMIM2024Q4	ARMC2
+618461_AR:Mitochondrial complex I deficiency, nuclear type 34	OMIM2024Q4	NDUFAF8
+618656_AR:Diarrhea 11, malabsorptive, congenital	OMIM2024Q4	PERCC1
+618735_AR:Spermatogenic failure 42	OMIM2024Q4	TTC29
+616054_AR:Intellectual developmental disorder, autosomal recessive 58	OMIM2024Q4	ELP2
+616284_AR:Peeling skin syndrome 6	OMIM2024Q4	FLG2
+616309_AD:Neurodevelopmental disorder with eye movement abnormalities and ataxia	OMIM2024Q4	FRMD5
+616406_AR:Leukodystrophy, hypomyelinating, 10	OMIM2024Q4	PYCR2
+616472_AD:Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	OMIM2024Q4	UBAP2L
+616585_AR:Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	OMIM2024Q4	RSPRY1
+616650_AR:Joubert syndrome 26	OMIM2024Q4	KATNIP
+100725_AD/AR:Myasthenic syndrome, congenital, 4A, slow-channel##AR:Myasthenic syndrome, congenital, 4B, fast-channel##AR:Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	OMIM2024Q4	CHRNE
+100850_AR:Infantile cerebellar-retinal degeneration##AD/AR:Optic atrophy 9	OMIM2024Q4	ACO2
+102510_AD:Acropectorovertebral dysplasia	OMIM2024Q4	ACRPV
+102575_AD:Bleeding disorder, platelet-type, 15	OMIM2024Q4	ACTN1
+102620_AD:Aortic aneurysm, familial thoracic 6##.:Moyamoya disease 5##AD:Smooth muscle dysfunction syndrome	OMIM2024Q4	ACTA2
+104150_AR:Alpha-fetoprotein deficiency##AD:[Hereditary persistence of alpha-fetoprotein]	OMIM2024Q4	AFP
+104155_.:Prostate cancer, somatic##AD:Spinocerebellar ataxia 4##AD:{Atrial fibrillation 8, susceptibility to}	OMIM2024Q4	ZFHX3
+104614_AD/AR:Cystinuria	OMIM2024Q4	SLC3A1
+104760_AD:Alzheimer disease 1, familial##AD:Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	OMIM2024Q4	APP
+618941_AR:Cardiofacioneurodevelopmental syndrome	OMIM2024Q4	CCDC32
+618980_AR:Spermatogenic failure 44	OMIM2024Q4	CEP112
+619210_AD:?Angioedema, hereditary, 8	OMIM2024Q4	HS3ST6
+619449_AR:?Microcephaly 28, primary, autosomal recessive	OMIM2024Q4	RRP7A
+616899_AR:Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	OMIM2024Q4	TBCK
+617048_AR:Bone marrow failure syndrome 3	OMIM2024Q4	DNAJC21
+617199_AR:Intellectual developmental disorder, autosomal recessive 82	OMIM2024Q4	NSUN6
+617353_AR:Short-rib thoracic dysplasia 17 with or without polydactyly	OMIM2024Q4	DYNLT2B
+617424_AD:Skraban-Deardorff syndrome	OMIM2024Q4	WDR26
+617445_AD:Deafness, autosomal dominant 85	OMIM2024Q4	USP48
+617513_AR:Yoon-Bellen neurodevelopmental syndrome	OMIM2024Q4	OGDHL
+617728_AR:Seckel syndrome 11	OMIM2024Q4	CEP295
+617817_AR:Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	OMIM2024Q4	TUBGCP2
+619829_AR:Spermatogenic failure 94	OMIM2024Q4	CCDC146
+620160_AR:Spermatogenic failure 78	OMIM2024Q4	IQCN
+617923_.:[Blood group, Ss]##.:{Malaria, resistance to}	OMIM2024Q4	GYPB
+618181_AR:Intellectual developmental disorder, autosomal recessive 69	OMIM2024Q4	ZBTB11
+618202_AR:Leber-like hereditary optic neuropathy, autosomal recessive 1	OMIM2024Q4	DNAJC30
+618542_AD:{?Pancreatic cancer, susceptibility to, 5}	OMIM2024Q4	RABL3
+618611_AR:Ovarian dysgenesis 11	OMIM2024Q4	HROB
+618788_AR:Osteogenesis imperfecta, type XXII	OMIM2024Q4	CCDC134
+618802_AR:Spinocerebellar ataxia, autosomal recessive 28	OMIM2024Q4	THG1L
+618865_AD:Lissencephaly 10	OMIM2024Q4	CEP85L
+620875_AR:Spastic paraplegia 92, autosomal recessive	OMIM2024Q4	FICD
+618994_AR:Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities##AR:Spastic paraplegia 83, autosomal recessive	OMIM2024Q4	HPDL
+619469_AR:Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	OMIM2024Q4	TMEM222
+619600_AR:Dystonia 31	OMIM2024Q4	AOPEP
+619960_AR:?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	OMIM2024Q4	RAB5IF
+620708_AR:Spermatogenic failure 92	OMIM2024Q4	LRRC23
+620974_AD:?Fibromatosis, gingival 6	OMIM2024Q4	ZNF862
+100740_.:[Blood group, Yt system]	OMIM2024Q4	ACHE
+102540_AD:Atrial septal defect 5##AD:Cardiomyopathy, dilated, 1R##AD:Cardiomyopathy, hypertrophic, 11##AD:Left ventricular noncompaction 4	OMIM2024Q4	ACTC1
+102565_AD:Arrhythmogenic right ventricular dysplasia, familial##AD:Cardiomyopathy, familial hypertrophic, 26##AD:Cardiomyopathy, familial restrictive 5##AD:Myopathy, distal, 4##AD:Myopathy, myofibrillar, 5	OMIM2024Q4	FLNC
+102576_AD:Fibrodysplasia ossificans progressiva	OMIM2024Q4	ACVR1
+102600_AR:Adenine phosphoribosyltransferase deficiency	OMIM2024Q4	APRT
+102680_Mu:{Hypertension, essential, salt-sensitive}	OMIM2024Q4	ADD1
+102750_AR:Hypermethioninemia due to adenosine kinase deficiency	OMIM2024Q4	ADK
+102910_AD:?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2	OMIM2024Q4	ATP5F1B
+103000_AR:Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient	OMIM2024Q4	AK1
+103180_AD:Periventricular nodular heterotopia 8	OMIM2024Q4	ARF1
+103320_AR:Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	OMIM2024Q4	AGRN
+103710_DR:AMED syndrome, digenic	OMIM2024Q4	ADH5
+104170_AR:Kanzaki disease##AR:Schindler disease, type I##AR:Schindler disease, type III	OMIM2024Q4	NAGA
+104311_AD:?Acne inversa, familial, 3##AD:?Cardiomyopathy, dilated, 1U##AD:Alzheimer disease, type 3, with or without spastic paraparesis##AD:Dementia, frontotemporal##AD:Pick disease	OMIM2024Q4	PSEN1
+516030_Deafness, aminoglycoside-induced{LHON7444A} ; Deafness, nonsyndromic sensorineural, mitochondrial{LHON7444A} ; Leber hereditary optic neuropathy（LHON）{LHON7444A} ; Sideroblastic anemia, acquired idiopathic (AISA){AISA6742C; AISA6721C;} ; Cytochrome c oxidase deficiency{COX6480A; 6930G-A; LEU196ILE; SER142PHE} ; Colorectal cancer{GLY121TER; GLY125ASP; SER458PRO} ; Myoglobinuria, recurrent{5920G-A} ; Sensorineural Hearing Loss（SNHL）{A7445G}	OMIM2024Q4	MT-CO1
+516060_LEIGH Syndrome（LS）{T8851C; T8993C; T8993G; T9176C; T9176G; T9185C} ; Leber hereditary optic neuropathy（LHON）{9101T-C, ILE192THR } ; Mitochondrial complex V (atp synthase) deficiency, mitochondrial type 1（MC5DM1）{8993T-G, LEU156ARG; 8993T-C, LEU156PRO;9176T-C; 9185T-C, LEU220PRO; 9176T-G, LEU217ARG} ; NARP Syndrome{8993T-G, LEU156ARG; 1-BP INS, 8618T; T8993C; T9185C} ; Ataxia and polyneuropathy, adult-onset{8993T-C, LEU156PRO} ; Bilateral striatal necrosis（BSN）, infantile, mitochondrial{9176T-C; 8851T-C  } ; Seizures and lactic acidosis{2-BP DEL, 9205TA} ; Cardiomyopathy, infantile hypertrophic{MET1THR} ; Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3（MLASA3）{SER148ASN; G8969A} ; Infantile cardiomyopathy{T8528C} ; IgG nephropathy{G8969A} ; Ataxia Syndromes{T9035C; T9185C} ; MIDD, renal insufficiency{A9155G} ; Spastic Paraplegia{T9176G} ; Encephalopathy, mitochondrial{9205_9206delTA} ; Seizures{9205_9206delTA} ; Lacticacidemia{9205_9206delTA}	OMIM2024Q4	MT-ATP6
+590005_Encephalomyopathy, mitochondrial{10438A-G; 10450A-G}	OMIM2024Q4	MT-TR
+590040_MERRF Syndrome（myoclonic epilepsy with ragged red fibers Syndrome）{} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){} ; Deafness, nonsyndromic sensorineural, mitochondrial{12201T-C } ; Cardiomyopathy, hypertrophic, mitochondrial{12192G-A} ; Cardiomyopathy, idiopathic dilated, mitochondrial{12192G-A} ; Pigmentary retinopathy and sensorineural deafness{12183G-A} ; MERRF/MELAS overlap Syndrome{12147G-A} ; Encephalopathy, mitochondrial{G12147A}	OMIM2024Q4	MT-TH
+590065_Myopathy, mitochondrial{4409T-C; G4450A} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){G4450A} ; LEIGH Syndrome（LS）{G4450A}	OMIM2024Q4	MT-TM
+590090_Parkinson disease, susceptibility to{15950G-A} ; Variant of unknown significance{15923A-G; 15927G-A  }	OMIM2024Q4	MT-TT
+516003_Leber hereditary optic neuropathy（LHON）{LHON11778A; G11778A} ; Leber optic atrophy and dystonia{VAL312ILE } ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){MELAS11084G} ; Mitochondrial complex I deficiency, mitochondrial type 2{11777C-A} ; LEIGH Syndrome（LS）{C11777A} ; Progressive Dystonia{G11778A}	OMIM2024Q4	MT-ND4
+590100_Exercise intolerance and complex iii deficiency, somatic{5874A-G} ; Chronic progressive external ophthalmoplegia with myopathy, somatic{1-BP DEL, 5885T; 5877G-A} ; Focal segmental glomerulosclerosis and dilated cardiomyopathy{5843A-G}	OMIM2024Q4	MT-TY
+516000_MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){3697G-A; 3946G-A; 3949T-C} ; Deafness, nonsyndromic sensorineural, mitochondrial{3388C-A} ; Leber hereditary optic neuropathy（LHON）{3460G-A; 4160C; 4216C; 3394C; 4136G; C4171A; 3733G-A; G3635A; G3700A} ; Mitochondrial complex I deficiency, mitochondrial type 3{3460G-A; 4160C; 4216C; 3394C; 4136G; 7-BP INV} ; Alzheimer disease{3397G} ; Parkinson disease{3397G} ; Colorectal cancer{3308T-C} ; Sudden infant death Syndrome{3308T-C; 3308T-G} ; Dystonia, adult-onset{3796A-G} ; Leber optic atrophy and dystonia{3697G-A} ; LHON MELAS overlap{G3376A} ; LEIGH Syndrome（LS）{G3697A; G3890A} ; Leber optic atrophy and dystonia（LDYT）{G3697A} ; Bilateral striatal necrosis（BSN）{G3697A} ; Progressive Encephalomyopathy(PEM){G3890A} ; Optic Atrophy{G3890A} ; EXIT（exercise intolerance）+myalgia {3902_3908inv} ; severe LA+cardiac{3902_3908inv} ; 3-MGA aciduria（3-Methylglutaconic aciduria）{3902_3908inv} ; Leigh-like phenotype{C4171A}	OMIM2024Q4	MT-ND1
+590000_Myotonic dystrophy-like myopathy{5650G-A} ; Mitochondrial myopathy{5591G-A; G5650A}	OMIM2024Q4	MT-TA
+590085_MERRF Syndrome（myoclonic epilepsy with ragged red fibers Syndrome）{} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){} ; Cerebellar ataxia, cataract, and diabetes mellitus{12258C-A} ; Retinitis pigmentosa-deafness Syndrome{12258C-A} ; Retinitis pigmentosa 21(RP21){12258C-A} ; MERRF/MELAS OVERLAP Syndrome{12207G-A } ; Diabetes and deafness, maternally inherited（DMDF）（MIDD）{C12258A} ; RP+SNHL{C12258A}	OMIM2024Q4	MT-TS2
+590095_Encephalopathy, mitochondrial{5549G-A; 1-BP INS, 5537T; } ; LEIGH Syndrome（LS）{1-BP INS, 5537T } ; Myopathy, mitochondrial{5521G-A} ; Neurogastrointestinal Syndrome, mitochondrial{5532G-A} ; Encephalomyopathy, mitochondrial{5556G-A} ; Encephalocardiomyopathy, mitochondrial{5545C-T}	OMIM2024Q4	MT-TW
+516001_LEIGH Syndrome（LS）{LEU71PRO} ; Leber hereditary optic neuropathy（LHON）{LHON4917G; LHON5244A; LHON4640A;} ; Mitochondrial complex I deficiency{2-BP DEL, 5132AA; TRP114TER; }	OMIM2024Q4	MT-ND2
+516004_Leber hereditary optic neuropathy（LHON）{10663T-C} ; Colorectal cancer{CYS32ARG }	OMIM2024Q4	MT-ND4L
+516005_MERRF Syndrome（myoclonic epilepsy with ragged red fibers Syndrome）{13042G-A, ALA236THR; T13094C} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){12770A-G, GLU145GLY; 13045A-C, MET237LEU; 13084A-T, SER250CYS; 13513G-A, ASP393ASN; 13042G-A, ALA236THR; A13514G; T13094C} ; LEIGH Syndrome（LS）{T12706C; G13513A; A13514G; G13042A} ; Leber hereditary optic neuropathy（LHON）{LHON13708A; LHON13730A; 13045A-C, MET237LEU; 12848C-T, ALA171VAL; 12338T-C, MET1THR; G13051A; T13094C; G13042A} ; Mitochondrial complex I deficiency, mitochondrial type 2{12706T-C, PHE124LEU; 13045A-C, MET237LEU; 13084A-T, SER250CYS; 13513G-A, ASP393ASN; 13042G-A, ALA236THR} ; Parkinson disease 6, modifier of{12397A-G} ; retinopathy{G13042A} ; Ataxia+PEO{T13094C} ; LHON-MELAS Overlap Syndrome{G13513A} ; negative association w Carotid Atherosclerosis{G13513A} ; Ca2+ downregulation{A13514G}	OMIM2024Q4	MT-ND5
+561000_Deafness, aminoglycoside-induced{1555A-G; 1-BP DEL, 961T, C INS; 1095T-C; 1494C-T; } ; Deafness, nonsyndromic sensorineural, mitochondrial{961T-G; 1291T-C; 827A-G; 1494C-T} ; Auditory neuropathy{1095T-C} ; Cardiomyopathy, restrictive{1555A-G} ; Autism spectrum intellectual disability{m.1555A>G} ; Possibly antiatherosclerotic{m.1555A>G}	OMIM2024Q4	MT-RNR1
+561010_Chloramphenicol resistance{T2991C; C2939A}	OMIM2024Q4	MT-RNR2
+590020_MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){5814A-G} ; Dystonia, mitochondrial{5816A-G}	OMIM2024Q4	MT-TC
+590025_Myopathy, mitochondrial, with diabetes mellitus{14709T-C} ; Diabetes and deafness, maternally inherited{14709T-C; 14692A-G} ; Mitochondrial myopathy, infantile, transient{14674T-C; 14674T-G} ; Reversible COX deficiency myopathy{T14674C} ; MM+DMDF{T14709C} ; Encephalomyopathy, mitochondrial{T14709C} ; Dementia+diabetes+ophthalmoplegia{T14709C} ; Encephalomyopathy + Retinopathy{G14710A}	OMIM2024Q4	MT-TE
+590045_Deafness, nonsyndromic sensorineural, mitochondrial{4295A-G} ; Cardiomyopathy, fatal infantile{4317A-G} ; Cardiomyopathy, fatal{4269A-G} ; Cardiomyopathy, familial hypertrophic{4295A-G; 4300A-G} ; Multisystem disorder{4284G-A} ; Encephalopathy, familial progressive necrotizing{4290T-C} ; Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial{4291T-C} ; Chronic Progressive Ophthalmoplegia（CPEO）{G4298A; G4308A} ; multiple sclerosis（MS）{G4298A} ; Maternally Inherited Cardiomyopathy（MICM）{A4300G}	OMIM2024Q4	MT-TI
+590080_MERRF Syndrome（myoclonic epilepsy with ragged red fibers Syndrome）{} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){} ; MERRF/MELAS overlap Syndrome{7512T-C} ; Cytochrome c oxidase deficiency{7512T-C; 1-BP INS, 7472C; } ; Deafness, aminoglycoside-induced{7444G-A} ; Deafness, nonsyndromic sensorineural, mitochondrial{7445A-G; 1-BP INS, 7472C; 7510T-C;7511T-C; 7445A-C; 7505T-C } ; Keratoderma, palmoplantar, with deafness{7445A-G} ; Deafness, sensorineural, with neurologic features{1-BP INS, 7472C} ; Exercise intolerance（EXIT）, muscle pain, and lactic acidemia{7497G-A} ; Progressive Encephalomyopathy(PEM){C7471CC} ; Ataxia, Myopathy, and DeaFness（AMDF）{C7471CC} ; Motor neuron disease-like{C7471CC} ; Mitochondrial Myopathy（MM）{G7497A} ; Sensorineural Hearing Loss（SNHL）{T7510C; T7511C; } ; Sensorineural Hearing Loss（SNHL）{A7445G}	OMIM2024Q4	MT-TS1
+516002_LEIGH Syndrome（LS）{T10158C; T10191C; G10197A} ; Mitochondrial complex i deficiency, mitochondrial type 1（MC1DM1）{SER45PRO; 10158T-C;10197G-A, ALA47THR;  } ; Parkinson disease, resistance to{10398A-G} ; Leber optic atrophy and dystonia{10197G-A, ALA47THR} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){T10158C} ; Leigh-like Disease{T10191C} ; ESOC（Epilepsy, Strokes, Optic atrophy, and Cognitive decline）{T10191C} ; Dystonia{G10197A} ; Stroke{G10197A} ; Leber optic atrophy and dystonia（LDYT）{G10197A}	OMIM2024Q4	MT-ND3
+516006_MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){MELAS14453A} ; LEIGH Syndrome（LS）{G14459A; T14487C} ; Leber hereditary optic neuropathy（LHON）{LHON14484C; LDYT14459A; LHON14495G; LHON14482A; C14482A; C14482G; T14484C; A14495G; C14568T} ; Leber optic atrophy and dystonia（LDYT）{LDYT14459A; LDYT14596A; } ; Mitochondrial complex i deficiency, mitochondrial type 2{LDYT14459A; 14487T-C; } ; Striatal necrosis, bilateral, with dystonia{14487T-C} ; Parkinson disease 6, modifier of{14319T-C } ; Oncocytoma{1-BP INS, 14249C} ; Dystonia{G14459A; T14487C} ; Carotid atherosclerosis risk{G14459A} ; Ataxia{T14487C} ; Ptosis{T14487C} ; Epilepsy{T14487C}	OMIM2024Q4	MT-ND6
+590055_Encephalomyopathy, mitochondrial{12315G-A} ; Myopathy, mitochondrial{12320A-G} ; Cardiomyopathy, mitochondrial{12297T-C} ; Chronic Progressive Ophthalmoplegia（CPEO）{G12276A; G12294A; G12315A; G12316A } ; EXIT+Ophthalmoplegia{G12294A} ; KEARNS-SAYRE Syndrome（KSS）{G12315A} ; possible carotid atherosclerosis risk, trend toward myocardial infarction risk{G12315A}	OMIM2024Q4	MT-TL2
+590060_MERRF Syndrome（myoclonic epilepsy with ragged red fibers Syndrome）{8344A-G; 8356T-C; 8361G-A; G8363A} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){} ; LEIGH Syndrome（LS）{8344A-G} ; Parkinson disease, mitochondrial{8344A-G } ; MERRF/MELAS overlap Syndrome{8356T-C} ; Cardiomyopathy and deafness{8363G-A} ; Mitochondrial neurogastrointestinal encephalomyopathy Syndrome{8313G-A} ; Diabetes and deafness, maternally inherited{8296A-G} ; Progressive external ophthalmoplegia with myoclonus{8342G-A} ; Severe adult-onset multisymptom myopathy{T8306C} ; Myoclonic epilepsy{T8306C} ; Mitochondrial NeuroGastroIntestinal Encephalopathy（MNGIE）{G8313A} ; Myopathy{G8340A} ; Exercise intolerance{G8340A} ; Eye disease+SNHL{G8340A} ; Depressive mood disorder{A8344G} ; leukoencephalopathy{A8344G} ; HiCM{A8344G} ; MICM+DEAF{G8363A} ; Autism{G8363A} ; LEIGH Syndrome（LS）{G8363A} ; Ataxia+Lipomas{G8363A}	OMIM2024Q4	MT-TK
+590050_MERRF Syndrome（myoclonic epilepsy with ragged red fibers Syndrome）{3256C-T} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){3243A-G; 3271T-C; A3243T; C3256T; T3258C; A3260G; T3291C} ; DIABETES AND DEAFNESS, MATERNALLY INHERITED（DMDF）（MIDD）{3243A-G} ; MUSCLE STIFFNESS, PAINFUL{3243A-G} ; 3-methylglutaconic aciduria{3243A-G} ; Maculopathy, age-related{3243A-G} ; Cyclic vomiting Syndrome{3243A-G} ; Mitochondrial complex IV deficiency{3243A-G} ; MERRF/MELAS overlap Syndrome{3243A-G} ; Diabetes mellitus, noninsulin-dependent, maternally transmitted{3256C-T; T3271C} ; Cardiomyopathy with or without skeletal myopathy{3303C-T; 3260A-G} ; Encephalomyopathy, mitochondrial{3252T-C} ; Progressive external ophthalmoplegia, proximal myopathy, and sudden death{3251A-G} ; Skeletal myopathy, responsive to riboflavin{3250T-C} ; Sudden infant death Syndrome{3290T-C} ; Neuropsychiatric disorder and early-onset cataract{3274A-G} ; KEARNS-SAYRE Syndrome（KSS）{3249G-A} ; Myelodysplastic Syndrome, somatic{3242G-A} ; LEIGH Syndrome（LS）{A3243G} ; Sensorineural Hearing Loss（SNHL）{A3243G; A3243T} ; Chronic Progressive Ophthalmoplegia（CPEO）{A3243G; A3243T} ; Mitochondrial Myopathy（MM）{A3243G; A3243T; A3302G; T3258C; A3280G; T3291C} ; Focal Segmental Glomerulosclerosis(FSGS){A3243G} ; Autism spectrum disorder（ASD）{A3243G} ; Cardiac+multi-organ dysfunction{A3243G} ; possible atherosclerosis risk{C3256T} ; Mitochondrial Myopathy and Cardiomyopathy（MMC）{A3260G; C3303T} ; Progressive Encephalomyopathy(PEM){T3271del} ; retinal dystrophy in MELAS{T3271del} ; Deafness+Cognitive Impairment{T3291C}	OMIM2024Q4	MT-TL1
+516020_Leber hereditary optic neuropathy（LHON）{LHON15257A; LHON15812A;} ; Colorectal cancer{14985G-A, ARG80HIS; 15572T-C, PHE276LEU; } ; Exercise intolerance{15615G-A, GLY290ASP; 14846G-A, GLY34SER; 15150G-A, TRP135TER; 15197T-C, SER151PRO} ; Encephalomyopathy, mitochondrial{15242G-A, GLY166TER} ; Multisystem disorder{15579A-G, TYR278CYS} ; Cardiomyopathy, infantile histiocytoid{15498G-A, GLY251ASP} ; Exercise intolerance, cardiomyopathy, and septooptic dysplasia{14849T-C, SER35PRO} ; Parkinsonism/MELAS overlap Syndrome{4-BP DEL, 14787TTAA} ; Obesity, susceptibility to{15497G-A, GLY251SER} ; Exercise intolerance{T14849C} ; Septo-Optic Dysplasia{T14849C} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){T14864C} ; Multisystem Disorder, EXIT{A15579G}	OMIM2024Q4	MT-CYB
+516070_Brain pseudoatrophy, reversible, valproate-induced, susceptibility to{8393C-T} ; Cardiomyopathy, apical hypertrophic, and neuropathy{TRP55TER} ; Cardiomyopathy, infantile hypertrophic{TRP55ARG} ; Infantile cardiomyopathy{T8528C}	OMIM2024Q4	MT-ATP8
+590070_MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){583G-A} ; MERRF Syndrome（myoclonic epilepsy with ragged red fibers Syndrome）{611G-A} ; Myopathy, mitochondrial, late-onset{622G-A} ; Epilepsy, mitochondrial{616T-C; 616T-G} ; Encephalopathy, mitochondrial{586G-A} ; Nephropathy, tubulointerstitial{608A-G; m.616T>C} ; Mitochondrial myopathy with exercise intolerance（MM & EXIT）{m.583G>A}	OMIM2024Q4	MT-TF
+590075_Myopathy{UGG-TO-UGA ANTICODON MUTATION } ; Parkinson disease, susceptibility to{15965T-C} ; MERRF Syndrome（Myoclonic epilepsy with ragged red fibers Syndrome）{15967G-A}	OMIM2024Q4	MT-TP
+516040_Cytochrome c oxidase deficiency{7587T-C; 7671T-A; 2-BP DEL, 8042AT; 7896G-A} ; Colorectal cancer{8009G-A, VAL142MET }	OMIM2024Q4	MT-CO2
+516050_LEIGH Syndrome（LS）{} ; Leber hereditary optic neuropathy（LHON）{LHON9438A; LHON9804A; } ; Mitochondrial complex IV deficiency{15-BP DEL; 9952G-A, TRP-TER; 1-BP INS, 9537C; 9379G-A, TRP58TER; } ; Mitochondrial complex IV deficiency with recurrent myoglobinuria{15-BP DEL} ; Seizures and lactic acidosis{2-BP DEL, 9205TA}	OMIM2024Q4	MT-CO3
+590010_Ophthalmoplegia, isolated{5703G-A; 5692A-G} ; Mitochondrial complex I deficiency, mitochondrial type 2{5728A-G} ; Mitochondrial complex IV deficiency{5728A-G} ; CPEO+ptosis+proximal myopathy{A5690G} ; Chronic Progressive Ophthalmoplegia（CPEO）{G5703A} ; Mitochondrial Myopathy（MM）{G5703A; T5728C} ; Multiorgan failure{T5728C}	OMIM2024Q4	MT-TN
+590015_Mitochondrial myopathy, isolated{7526A-G}	OMIM2024Q4	MT-TD
+590030_MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){4332G-A} ; Myopathy{1-BP INS, 4366A} ; Sensorineural deafness and migraine{4336A-G }	OMIM2024Q4	MT-TQ
+590035_Cardiomyopathy, hypertrophic{9997T-C; } ; Exercise intolerance{10010T-C} ; Sudden death{10044A-G} ; Progressive Encephalomyopathy(PEM){T10010C}	OMIM2024Q4	MT-TG
+590105_Ataxia, progressive seizures, mental deterioration, and hearing loss{1606A-G} ; LEIGH Syndrome（LS）{1624C-T; G1644A} ; Ataxia, Myopathy, and DeaFness（AMDF）{G1606A} ; Mitochondrial NeuroGastroIntestinal Encephalopathy（MNGIE）-like disease{A1630G} ; MELAS Syndrome(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes){A1630G; G1644A} ; Hypertrophic Cardiomyopathy(HCM){G1644A}	OMIM2024Q4	MT-TV