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A number sign (#) is used with this entry because of evidence that Wagner syndrome is caused by heterozygous mutation in the gene encoding versican (VCAN; 118661), also known as chondroitin sulfate proteoglycan-2 (CSPG2), on chromosome 5q14.
Description
Wagner vitreoretinopathy is a rare vitreoretinal degeneration ... | WAGNER VITREORETINOPATHY | c1840452 | 4,100 | omim | https://www.omim.org/entry/143200 | 2019-09-22T16:40:07 | {"mesh": ["C536075"], "omim": ["143200"], "orphanet": ["898"], "synonyms": ["Alternative titles", "EROSIVE VITREORETINOPATHY", "WAGNER VITREORETINAL DEGENERATION", "HYALOIDEORETINAL DEGENERATION OF WAGNER", "WAGNER SYNDROME 1"], "genereviews": ["NBK3821"]} |
Babinski–Nageotte syndrome
Other namesBabinski syndrome or Hemimedullary syndrome
Medulla oblongata anterior view
SpecialtyNeurology
Babinski–Nageotte syndrome is an alternating brainstem syndrome. It occurs when there is damage to the dorsolateral or posterior lateral medulla oblongata, likely syphilitic ... | Babinski–Nageotte syndrome | c0270711 | 4,101 | wikipedia | https://en.wikipedia.org/wiki/Babinski%E2%80%93Nageotte_syndrome | 2021-01-18T19:02:55 | {"umls": ["C0270711"], "icd-9": ["344.89"], "icd-10": ["G83.89"], "wikidata": ["Q797708"]} |
Bronchogenic cyst
Micrograph of a mediastinal bronchogenic cyst – H&E stain
Bronchogenic cysts are small, solitary cysts or sinuses, most typically located in the region of the suprasternal notch or behind the manubrium.[1]:682
## Contents
* 1 Clinical features
* 2 Pathology
* 3 Treatment
* 4 Add... | Bronchogenic cyst | c0006281 | 4,102 | wikipedia | https://en.wikipedia.org/wiki/Bronchogenic_cyst | 2021-01-18T18:54:17 | {"gard": ["1025"], "mesh": ["D001994"], "umls": ["C0006281"], "orphanet": ["2357"], "wikidata": ["Q4973829"]} |
A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.
## Epidemiology
To date, less than ... | Lethal multiple pterygium syndrome | c1854678 | 4,103 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33108 | 2021-01-23T18:02:38 | {"gard": ["3834"], "mesh": ["C537378", "C537377"], "omim": ["253290"], "umls": ["C1854678"], "icd-10": ["Q79.8"], "synonyms": ["Autosomal recessive lethal multiple pterygium syndrome", "LMPS"]} |
Central pain syndrome (CPS) is a rare neurological disorder caused by damage to or dysfunction of the pain-conducting pathways of the central nervous system (in the brain, brainstem, and spinal cord). Symptoms of CPS can vary greatly from one person to another, partly because the cause may differ. Primary symptoms ar... | Central pain syndrome | c1536114 | 4,104 | gard | https://rarediseases.info.nih.gov/diseases/5161/central-pain-syndrome | 2021-01-18T18:01:34 | {"synonyms": ["Thalamic syndrome (former)", "Dejerine Roussy syndrome (former)", "Posterior thalamic syndrome (former)", "Retrolenticular syndrome", "Thalamic hyperesthetic anesthesia", "Thalamic pain syndrome (former)", "Central post-stroke pain (subtype)"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thi... | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | c4225270 | 4,105 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477831 | 2021-01-23T18:23:20 | {"omim": ["616592"], "synonyms": ["Kosaki overgrowth syndrome"]} |
Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.
## Epidemiology
Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature.
## Clinical... | Hypoplastic tibiae-postaxial polydactyly syndrome | c1861098 | 4,106 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3332 | 2021-01-23T17:12:38 | {"mesh": ["C566046"], "omim": ["188740"], "icd-10": ["Q74.8"], "synonyms": ["Hypoplastic tibia-polydactyly syndrome", "Werner mesomelic syndrome"]} |
6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells fo... | 6q24-related transient neonatal diabetes mellitus | c1832386 | 4,107 | medlineplus | https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus/ | 2021-01-27T08:25:12 | {"gard": ["1839"], "mesh": ["C563322"], "omim": ["601410"], "synonyms": []} |
Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficien... | Lactate dehydrogenase deficiency | c0342769 | 4,108 | gard | https://rarediseases.info.nih.gov/diseases/3159/lactate-dehydrogenase-deficiency | 2021-01-18T17:59:32 | {"mesh": ["C580233"], "omim": ["150000"], "umls": ["C0342769"], "orphanet": ["2364"], "synonyms": []} |
Craniofrontonasal dysplasia
Other namesCraniofrontonasal dysostosis
This condition is inherited in an X-linked dominant manner. However, unlike most X-linked conditions, it is more severe in females, due to cell–cell interaction mechanisms involving the responsible gene (EFNB1) when it is present in only some cel... | Craniofrontonasal dysplasia | c0220767 | 4,109 | wikipedia | https://en.wikipedia.org/wiki/Craniofrontonasal_dysplasia | 2021-01-18T18:53:13 | {"gard": ["1578"], "mesh": ["C536456"], "umls": ["C0220767"], "icd-10": ["Q87.1"], "orphanet": ["1520"], "wikidata": ["Q5182141"]} |
This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.
## Epidemiology
It has been described in five related males.
## Etiology
Inheritance appeared to be X-linked recessive and ... | Deafness-hypogonadism syndrome | c1844680 | 4,110 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90646 | 2021-01-23T18:58:18 | {"gard": ["1691"], "mesh": ["C564435"], "omim": ["304350"], "umls": ["C1844680"], "synonyms": ["Hearing loss-hypogonadism syndrome"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-19 (RP19) can be caused by homozygous or compound heterozygous mutation in the ABCR gene (ABCA4; 601691) on chromosome 1p22.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 2680... | RETINITIS PIGMENTOSA 19 | c0035334 | 4,111 | omim | https://www.omim.org/entry/601718 | 2019-09-22T16:14:23 | {"doid": ["0110354"], "mesh": ["D012174"], "omim": ["601718"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
## Epidemiology
It has been reported in two sibs.
## Genetic counseling
The family is suggestive of autoso... | Ulna hypoplasia-intellectual disability syndrome | c1848650 | 4,112 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2249 | 2021-01-23T17:49:58 | {"gard": ["5398"], "mesh": ["C536934", "C564757"], "omim": ["276821"], "umls": ["C1848650", "C2931370"], "icd-10": ["Q87.2"]} |
Mental illness caused by a lack of thiamine in the brain
See also: Wernicke–Korsakoff syndrome
Korsakoff syndrome
Other namesAlcoholic Korsakoff syndrome (AKS), Korsakov syndrome, Alcohol amnestic disorder
Thiamine
SpecialtyPsychiatry
Korsakoff syndrome (KS)[1] is an amnestic disorder caused by thiamine ... | Korsakoff syndrome | c0349464 | 4,113 | wikipedia | https://en.wikipedia.org/wiki/Korsakoff_syndrome | 2021-01-18T18:37:00 | {"gard": ["6843"], "mesh": ["D020915"], "umls": ["C0349464"], "icd-9": ["294.0"], "icd-10": ["F04"], "wikidata": ["Q622901"]} |
A number sign (#) is used with this entry because thyroid dyshormonogenesis-1 (TDH1) is caused by homozygous or compound heterozygous mutation in the sodium-iodide symporter (NIS) gene (SLC5A5; 601843) on chromosome 19p13.
Description
Approximately 10% of patients with congenital hypothyroidism harbor inborn er... | THYROID DYSHORMONOGENESIS 1 | c1848805 | 4,114 | omim | https://www.omim.org/entry/274400 | 2019-09-22T16:21:41 | {"mesh": ["C564766"], "omim": ["274400"], "orphanet": ["95716"], "synonyms": ["HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1", "Alternative titles", "IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT", "Thyroid dyshormonogenesis"]} |
Cenesthopathy (from French: cénestopathie,[1] formed from the Ancient Greek κοινός (koinós) „common“, αἴσθησῐς (aísthēsis) „feeling“, „perception“ + πᾰ́θος (páthos) „feeling, suffering, condition“), also known as coenesthesiopathy,[2] is a rare psychiatric term used to refer to the feeling of being ill and this feeli... | Cenesthopathy | None | 4,115 | wikipedia | https://en.wikipedia.org/wiki/Cenesthopathy | 2021-01-18T18:35:45 | {"wikidata": ["Q3919140"]} |
A number sign (#) is used with this entry because of evidence that Harel-Yoon syndrome (HAYOS) is caused by heterozygous mutation in the ATAD3A gene (612316) on chromosome 1p36. One family with autosomal recessive inheritance has been reported.
Description
Harel-Yoon syndrome is a syndromic neurodevelopmental d... | HAREL-YOON SYNDROME | c4310677 | 4,116 | omim | https://www.omim.org/entry/617183 | 2019-09-22T15:46:35 | {"omim": ["617183"], "orphanet": ["496790"], "synonyms": ["Harel-Yoon syndrome"]} |
A number sign (#) is used with this entry because autosomal recessive distal renal tubular acidosis (dRTA) with hemolytic anemia is caused by mutation in the SLC4A1 gene (109270).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive distal RTA, see 267300.
Clinical F... | RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA | c1969038 | 4,117 | omim | https://www.omim.org/entry/611590 | 2019-09-22T16:03:06 | {"mesh": ["C566910"], "omim": ["611590"], "orphanet": ["93610", "18"], "synonyms": ["Alternative titles", "RTA, DISTAL, AUTOSOMAL RECESSIVE, WITH HEMOLYTIC ANEMIA"]} |
A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.
## Epidemiology
The prevalence and incid... | Smoldering systemic mastocytosis | c3897042 | 4,118 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158775 | 2021-01-23T17:04:16 | {"icd-10": ["C96.2"]} |
A number sign (#) is used with this entry because of evidence that Floating-Harbor syndrome (FLHS) is caused by heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.
Description
Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delaye... | FLOATING-HARBOR SYNDROME | c0729582 | 4,119 | omim | https://www.omim.org/entry/136140 | 2019-09-22T16:41:00 | {"mesh": ["C537062"], "omim": ["136140"], "orphanet": ["2044"], "genereviews": ["NBK114458"]} |
X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants ... | X-linked severe combined immunodeficiency | c1279481 | 4,120 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-severe-combined-immunodeficiency/ | 2021-01-27T08:25:15 | {"gard": ["5618"], "mesh": ["D053632"], "omim": ["300400"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that the disorder is caused by homozygous or compound heterozygous mutation in the ERCC4 gene (133520) on chromosome 16p13.
Description
Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivi... | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F | c0043346 | 4,121 | omim | https://www.omim.org/entry/278760 | 2019-09-22T16:21:05 | {"doid": ["0110848"], "mesh": ["D014983"], "omim": ["278760"], "orphanet": ["220295", "910"], "synonyms": ["XERODERMA PIGMENTOSUM VI", "Alternative titles", "XP/CS complex", "XP, GROUP F"], "genereviews": ["NBK1397"]} |
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 (266600).
Mapping
Duerr et al. (2000) performed a genome scan using 751 microsatellite loci in 127 CD-affected relative pairs from 62 families. They found... | INFLAMMATORY BOWEL DISEASE 4 | c1847691 | 4,122 | omim | https://www.omim.org/entry/606675 | 2019-09-22T16:10:14 | {"mesh": ["C564680"], "omim": ["606675"]} |
A number sign (#) is used with this entry because of evidence that agammaglobulinemia-8 (AGM8) is caused by heterozygous mutation in the TCF3 gene (147141) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495).
Clinical... | AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT | c1832241 | 4,123 | omim | https://www.omim.org/entry/616941 | 2019-09-22T15:47:27 | {"mesh": ["C538056"], "omim": ["616941"], "orphanet": ["33110", "229717"], "synonyms": ["Alternative titles", "AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT"]} |
Group of disorders characterised by degeneration of white matter in the brain
Leukodystrophy
T2 weighted axial scan at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent ... | Leukodystrophy | c0023520 | 4,124 | wikipedia | https://en.wikipedia.org/wiki/Leukodystrophy | 2021-01-18T18:35:02 | {"gard": ["6895"], "umls": ["C0023520"], "icd-10": ["E75.2"], "orphanet": ["68356"], "wikidata": ["Q1821559"]} |
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
*[v]: View this template
*[t]: Dis... | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | c1855787 | 4,125 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2278 | 2021-01-23T18:25:26 | {"gard": ["4641"], "mesh": ["C536274"], "omim": ["242530"], "umls": ["C1855787"], "synonyms": ["Passwell-Goodman-Siprkowski syndrome"]} |
A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.
*[v]: View this template
*[t]: Di... | Autosomal recessive spastic paraplegia type 24 | c1843569 | 4,126 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101004 | 2021-01-23T17:01:59 | {"gard": ["9296"], "mesh": ["C564375"], "omim": ["607584"], "umls": ["C1843569"], "icd-10": ["G11.4"], "synonyms": ["SPG24"]} |
Not to be confused with Decompression sickness.
Reversible narcotic effects of respiratory nitrogen at elevated partial pressures
* Inert gas narcosis
* [Nitrogen narcosis]
Divers breathe a mixture of oxygen, helium and nitrogen for deep dives to avoid the effects of narcosis. A cylinder label shows the ... | Nitrogen narcosis | c0028166 | 4,127 | wikipedia | https://en.wikipedia.org/wiki/Nitrogen_narcosis | 2021-01-18T18:38:02 | {"mesh": ["D007222"], "umls": ["C0028166"], "wikidata": ["Q581152"]} |
Temtamy et al. (1974) described 2 Egyptian sisters, offspring of a first-cousin marriage, with marked metaphyseal dysplasia resembling Pyle disease, anetoderma (macular atrophy of the skin) and optic atrophy. Although the last was apparently congenital, compression of the cranial nerves was present. See 133690 fo... | METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY | c1855174 | 4,128 | omim | https://www.omim.org/entry/250450 | 2019-09-22T16:25:19 | {"mesh": ["C565395"], "omim": ["250450"]} |
Polyorchidism
Ultrasound scan showing a side view of Type A3 polyorchidism, with annotations showing the superior and inferior testes and the head and tail of the epididymis
Polyorchidism is the incidence of more than two testicles. It is a very rare congenital disorder, with fewer than 200 cases reported in m... | Polyorchidism | c0266430 | 4,129 | wikipedia | https://en.wikipedia.org/wiki/Polyorchidism | 2021-01-18T18:44:28 | {"umls": ["C0266430"], "icd-9": ["752.89"], "icd-10": ["Q55.2"], "wikidata": ["Q745631"]} |
Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence l... | Spastic paraplegia-optic atrophy-neuropathy syndrome | c1836010 | 4,130 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=320406 | 2021-01-23T17:03:03 | {"mesh": ["C563702"], "omim": ["609541"], "umls": ["C1836010"], "icd-10": ["G11.4"], "synonyms": ["SPOAN"]} |
## Description
The PR (or PQ) interval is the time required for an electrical impulse to travel from the atrial myocardium adjacent to the sinus node through the atrioventricular node (AVN) to the Purkinje fibers. Delayed conduction results in prolongation of the PR interval and subsequent risk of atrial fibrillati... | PR INTERVAL, VARIATION IN | c3152251 | 4,131 | omim | https://www.omim.org/entry/108980 | 2019-09-22T16:44:37 | {"omim": ["108980"], "synonyms": ["Alternative titles", "ATRIOVENTRICULAR CONDUCTION TIME, VARIATION IN"]} |
Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.
*[v]: View this template
*[t]: Discuss this template
... | Craniofrontonasal dysplasia-Poland anomaly syndrome | None | 4,132 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1521 | 2021-01-23T16:56:07 | {"gard": ["428"], "icd-10": ["Q87.8"], "synonyms": ["Webster-Deming syndrome"]} |
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
## Epidemiology
It has been described in two sibs.
## Clinical description
... | Microcephaly-albinism-digital anomalies syndrome | c1859910 | 4,133 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2513 | 2021-01-23T18:46:18 | {"gard": ["3604"], "mesh": ["C537322"], "omim": ["203340"], "umls": ["C1859910"], "icd-10": ["Q87.8"], "synonyms": ["Castro Gago-Pombo-Novo syndrome"]} |
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common featu... | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | c0268342 | 4,134 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1900 | 2021-01-23T18:54:15 | {"gard": ["2083"], "mesh": ["C536198"], "omim": ["225400"], "umls": ["C0268342"], "icd-10": ["Q79.6"], "synonyms": ["Cutis hyperelastica", "EDS VIA", "Ehlers-Danlos syndrome type 6A", "Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency", "Lysyl hydroxylase-deficient EDS", "Ocular-scoliotic EDS", "kEDS-PLOD1"]} |
A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-12 with or without anosmia (HH12) is caused by homozygous mutation in the GNRH1 gene (152760) on chromosome 8p21. One such family has been reported.
Description
Congenital idiopathic hypogonadotropic hypogonadism (IHH) ... | HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA | c1856897 | 4,135 | omim | https://www.omim.org/entry/614841 | 2019-09-22T15:54:04 | {"doid": ["0090072"], "mesh": ["C535764"], "omim": ["614841"], "orphanet": ["432"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "GONADOTROPIN DEFICIENCY, FAMILIAL IDIOPATHIC", "Alternative titles", "EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC", "Normosmic idiopathic hypogonadotrop... |
## Description
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism ... | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3 | c1837434 | 4,136 | omim | https://www.omim.org/entry/608781 | 2019-09-22T16:07:19 | {"omim": ["608781"]} |
Leucine-sensitive hypoglycemia of infancy
Other namesHypoglycemia leucine-induced; hypoglycemia leucine induced; familial infantile hypoglycemia precipitated by leucine[1]
Leucine-sensitive hypoglycemia of infancy is a type of metabolic disorder.[1] It is inherited in an autosomal dominant fashion.[2] It is ra... | Leucine-sensitive hypoglycemia of infancy | c0271714 | 4,137 | wikipedia | https://en.wikipedia.org/wiki/Leucine-sensitive_hypoglycemia_of_infancy | 2021-01-18T19:07:14 | {"gard": ["9915"], "mesh": ["C537150"], "umls": ["C0271714"], "wikidata": ["Q55781969"]} |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
## Epidemiology
Prevalence is unknown but approximately 50 patients have been described since the first characterizatio... | Hypotrichosis with juvenile macular degeneration | c1832162 | 4,138 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1573 | 2021-01-23T17:36:40 | {"gard": ["3066"], "mesh": ["C537698"], "omim": ["601553"], "umls": ["C1832162"], "icd-10": ["Q84.0"], "synonyms": ["HJMD", "Hypotrichosis with juvenile macular dystrophy"]} |
Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the ... | Metaplastic carcinoma of the breast | c1334708 | 4,139 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213531 | 2021-01-23T17:36:07 | {"gard": ["10804"], "umls": ["C1334708"], "icd-10": ["C50.0", "C50.1", "C50.2", "C50.3", "C50.4", "C50.5", "C50.6", "C50.8"]} |
Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.
*[v]: View this ... | Myoclonic epilepsy in non-progressive encephalopathies | None | 4,140 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86913 | 2021-01-23T17:00:06 | {"icd-10": ["G40.4"], "synonyms": ["Myoclonic status in non-progressive encephalopathies", "Myoclonus epilepsy in non-progressive encephalopathies"]} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type Ib (CDG Ib, CDG1B) is caused by compound heterozygous mutation in the gene encoding mannosephosphate isomerase (MPI; 154550) on chromosome 15q24.
Description
Congenital disorders of glycosylation (CDGs) are ... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib | c1865145 | 4,141 | omim | https://www.omim.org/entry/602579 | 2019-09-22T16:13:36 | {"doid": ["0080554"], "mesh": ["C535740"], "omim": ["602579"], "orphanet": ["79319"], "synonyms": ["Alternative titles", "CDG Ib", "CDG, GASTROINTESTINAL TYPE", "MANNOSEPHOSPHATE ISOMERASE DEFICIENCY", "MPI DEFICIENCY", "PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME", "SAGUENAY-LAC SAINT-JEAN SYNDROME", "SLSJ SY... |
An autoimmune disease
Scleromyositis
Other namesPM/Scl overlap syndrome
Scleromyositis, is an autoimmune disease (a disease in which the immune system attacks the body). People with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis, and is therefore considere... | Scleromyositis | None | 4,142 | wikipedia | https://en.wikipedia.org/wiki/Scleromyositis | 2021-01-18T18:44:36 | {"wikidata": ["Q7434176"]} |
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
*[v]: View this template
*[t]: Discuss thi... | Short stature-webbed neck-heart disease syndrome | c2930950 | 4,143 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2865 | 2021-01-23T17:55:58 | {"gard": ["583"], "mesh": ["C535613"], "umls": ["C2930950"], "icd-10": ["Q87.8"], "synonyms": ["Al Gazali-Aziz-Salem syndrome"]} |
Alveolar hydatid disease
Other namesAlveolar echinococcosis Alveolar colloid of the liver, Alveolococcosis, Multilocular echinococcosis
SpecialtyInfectious disease
Alveolar hydatid disease (AHD), is a form of echinococcosis, a disease that originates from a parasite.[1] Although alveolar echinococcosis is ra... | Alveolar hydatid disease | c0152069 | 4,144 | wikipedia | https://en.wikipedia.org/wiki/Alveolar_hydatid_disease | 2021-01-18T19:08:28 | {"gard": ["207"], "mesh": ["C536591"], "umls": ["C0948954"], "orphanet": ["284"], "synonyms": ["Echinococcus multilocularis infection"], "wikidata": ["Q448768"]} |
Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleedi... | Ovarian fibrothecoma | c4707356 | 4,145 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314478 | 2021-01-23T17:48:25 | {"icd-10": ["D27"]} |
For a phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).
Clinical Features
Ahmad et al. (1998) described a consanguineous kindred in Pakistan segregating hypodontia associated with dental anomalies such as malformation, enamel hypoplasia, and failure o... | TOOTH AGENESIS, SELECTIVE, 2 | c1865092 | 4,146 | omim | https://www.omim.org/entry/602639 | 2019-09-22T16:13:25 | {"mesh": ["C566513"], "omim": ["602639"], "synonyms": ["Alternative titles", "HYPODONTIA/OLIGODONTIA 2"]} |
Boutonneuse fever
Other namesMediterranean spotted fever
Typical eschar and spots on the leg of a patient with Boutonneuse fever[1]
SpecialtyInfectious disease
Boutonneuse fever (also called, fièvre boutonneuse, Kenya tick typhus, Indian tick typhus, Marseilles fever, or Astrakhan fever) is a fever as a re... | Boutonneuse fever | c0006060 | 4,147 | wikipedia | https://en.wikipedia.org/wiki/Boutonneuse_fever | 2021-01-18T18:34:17 | {"mesh": ["D001907"], "umls": ["C0006060"], "icd-10": ["A77.177.1"], "orphanet": ["83313", "101334"], "wikidata": ["Q895297"]} |
Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.
## Epidemiology
ESCC has an estimated annual incidence of 1/29,400.
## Clinical description
The average age of onset o... | Squamous cell carcinoma of the esophagus | c0279626 | 4,148 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99977 | 2021-01-23T18:37:56 | {"mesh": ["D000077277"], "omim": ["133239"], "umls": ["C0279626"], "icd-10": ["C15.0", "C15.1", "C15.3", "C15.4"], "synonyms": ["ESCC", "Esophageal epidermoid carcinoma", "Esophageal squamous cell carcinoma"]} |
A number sign (#) is used with this entry because the Finnish type of amyloidosis is caused by mutation in the gelsolin gene (GSN; 137350).
See also corneal lattice dystrophy due to local amyloid deposition (122200), which occurs as an isolated dominant.
Description
The Finnish type of systemic amyloidosis is char... | AMYLOIDOSIS, FINNISH TYPE | c0936273 | 4,149 | omim | https://www.omim.org/entry/105120 | 2019-09-22T16:45:13 | {"doid": ["0050637"], "mesh": ["D028227"], "omim": ["105120"], "orphanet": ["85448"], "synonyms": ["Alternative titles", "AMYLOIDOSIS V", "AMYLOIDOSIS, MERETOJA TYPE", "AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY", "AMYLOIDOSIS DUE TO MUTANT GELSOLIN"]} |
Female genital mutilation in Sierra Leone (also known as female genital cutting) is the common practice of removing all or part of the female's genitalia for cultural and religious initiation purposes, or as a custom to prepare them for marriage. Sierra Leone is one of 28 countries in Africa where female genital muti... | Female genital mutilation in Sierra Leone | None | 4,150 | wikipedia | https://en.wikipedia.org/wiki/Female_genital_mutilation_in_Sierra_Leone | 2021-01-18T18:55:14 | {"wikidata": ["Q18355010"]} |
Holocarboxylase synthetase deficiency
Other namesEarly-onset multiple carboxylase deficiency[1]
Biotin
SpecialtyMedical genetics, endocrinology
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively.[2] This disorder is... | Holocarboxylase synthetase deficiency | c0268581 | 4,151 | wikipedia | https://en.wikipedia.org/wiki/Holocarboxylase_synthetase_deficiency | 2021-01-18T18:28:06 | {"gard": ["2721"], "mesh": ["D028922"], "umls": ["C0268581"], "orphanet": ["79242"], "wikidata": ["Q5883885"]} |
A number sign (#) is used with this entry because of evidence that primary open angle glaucoma-1O is caused by heterozygous mutation in the NTF4 gene (162662) on chromosome 19q13.
For a phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760.
Molecular ... | GLAUCOMA 1, OPEN ANGLE, O | c2751294 | 4,152 | omim | https://www.omim.org/entry/613100 | 2019-09-22T15:59:40 | {"mesh": ["C567753"], "omim": ["613100"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-21 (MCPH21) is caused by homozygous mutation in the NCAPD2 gene (615638) on chromosome 12p13. One such patient has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity ... | MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE | c4693831 | 4,153 | omim | https://www.omim.org/entry/617983 | 2019-09-22T15:44:09 | {"omim": ["617983"]} |
Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
## Clinical description
The disease usually occurs in childhood and is characterized by hepatomegaly and growth delay. Hypoglycemic episodes are mild or absent, and hype... | Glycogen storage disease due to liver glycogen phosphorylase deficiency | c0017925 | 4,154 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369 | 2021-01-23T18:31:38 | {"gard": ["6529"], "mesh": ["D006013"], "omim": ["232700"], "umls": ["C0017925"], "icd-10": ["E74.0"], "synonyms": ["GSD due to liver glycogen phosphorylase deficiency", "GSD type 6", "GSD type VI", "Glycogen storage disease type 6", "Glycogen storage disease type VI", "Glycogenosis due to liver glycogen phosphorylase ... |
Peripheral blood smear in patient with thrombotic thrombocytopenic purpura. Typical typical schistocytes are annotated.
A schistocyte or schizocyte (from Greek schistos for "divided" and kytos for "hollow" or "cell") is a fragmented part of a red blood cell. Schistocytes are typically irregularly shaped, jagged, and... | Schistocyte | None | 4,155 | wikipedia | https://en.wikipedia.org/wiki/Schistocyte | 2021-01-18T19:09:51 | {"wikidata": ["Q623225"]} |
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
*[v]: View ... | Spastic paraplegia-glaucoma-intellectual disability syndrome | c1849113 | 4,156 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2818 | 2021-01-23T17:02:54 | {"mesh": ["C564809"], "omim": ["270850"], "umls": ["C1849113"]} |
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 2T (CMT2T) is caused by homozygous or compound heterozygous mutation in the MME gene (120520) on chromosome 3q25. Some patients may carry heterozygous MME mutations.
Description
Charcot-Marie-Tooth disease type 2T (C... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T | c4015635 | 4,157 | omim | https://www.omim.org/entry/617017 | 2019-09-22T15:47:14 | {"doid": ["0110160"], "omim": ["617017"], "orphanet": ["497757", "495274", "497764"], "synonyms": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T", "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T", "SCA43", "AR-CMT2T", "Alternative titles", ... |
Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. Without adequate water and nutrients, children with this condition c... | Microvillus inclusion disease | c0341306 | 4,158 | gard | https://rarediseases.info.nih.gov/diseases/7039/microvillus-inclusion-disease | 2021-01-18T17:59:03 | {"mesh": ["C537470"], "omim": ["251850"], "umls": ["C0341306"], "orphanet": ["2290"], "synonyms": ["Davidson disease", "Microvillus atrophy, congenital", "Congenital familial protracted diarrhea with enterocyte brush-border abnormalities", "Intractable diarrhea of infancy", "Congenital familial protracted diarrhea", "C... |
For a phenotypic description and a discussion of genetic heterogeneity of left ventricular noncompaction (LVNC), see 604169.
Mapping
In a family originally reported by Sasse-Klaassen et al. (2003), Sasse-Klaassen et al. (2004) reported linkage studies demonstrating a locus for autosomal dominant LVNC in 11p15. A pe... | LEFT VENTRICULAR NONCOMPACTION 2 | c1960469 | 4,159 | omim | https://www.omim.org/entry/609470 | 2019-09-22T16:06:00 | {"omim": ["609470"], "orphanet": ["54260"]} |
Glycogen storage disease
Other namesGlycogenosis, dextrinosis
Glycogen
SpecialtyEndocrinology
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), ... | Glycogen storage disease | c0017919 | 4,160 | wikipedia | https://en.wikipedia.org/wiki/Glycogen_storage_disease | 2021-01-18T18:43:18 | {"mesh": ["D006008"], "umls": ["C0017919"], "orphanet": ["79201"], "wikidata": ["Q1421738"]} |
Waldenström macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called... | Waldenström macroglobulinemia | c1835192 | 4,161 | medlineplus | https://medlineplus.gov/genetics/condition/waldenstrom-macroglobulinemia/ | 2021-01-27T08:25:05 | {"gard": ["7872"], "omim": ["153600"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal recessive nonsyndromic hearing loss-77 (DFNB77) is caused by homozygous mutation in the LOXHD1 gene (613072) on chromosome 18q21.
Clinical Features
Grillet et al. (2009) studied a 5-generation consanguineous Iranian family segregating auto... | DEAFNESS, AUTOSOMAL RECESSIVE 77 | c2746083 | 4,162 | omim | https://www.omim.org/entry/613079 | 2019-09-22T15:59:50 | {"doid": ["0110525"], "mesh": ["C567543"], "omim": ["613079"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK14... |
A number sign (#) is used with this entry because of evidence that autosomal dominant mitochondrial DNA depletion syndrome-12A (MTDPS12A) is caused by heterozygous mutation in the SLC25A4 gene (103220) on chromosome 4q35.
Heterozygous mutation in the SLC25A4 gene can also cause the less severe disorder autosomal dom... | MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT | c4310676 | 4,163 | omim | https://www.omim.org/entry/617184 | 2019-09-22T15:46:33 | {"omim": ["617184"], "genereviews": ["NBK487393"]} |
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phos... | Eiken syndrome | c1838779 | 4,164 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79106 | 2021-01-23T18:53:50 | {"mesh": ["C564010"], "omim": ["600002"], "umls": ["C1838779"]} |
A number sign (#) is used with this entry because early infantile epileptic encephalopathy-17 (EIEE17) is caused by de novo heterozygous mutation in the GNAO1 gene (139311) on chromosome 16q13.
Heterozygous mutation in the GNAO1 gene can also cause neurodevelopmental disorder with involuntary movements (NEDIM; 61749... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 | c0393706 | 4,165 | omim | https://www.omim.org/entry/615473 | 2019-09-22T15:52:05 | {"doid": ["0080450"], "omim": ["615473"], "orphanet": ["1934"]} |
A number sign (#) is used with this entry because Ellis-van Creveld syndrome (EVC) is caused by homozygous or compound heterozygous mutation in the EVC gene (604831) on chromosome 4p16.
Ellis-van Creveld syndrome can also be caused by mutation in a nonhomologous gene, EVC2 (607261), located close to the EVC gene in ... | ELLIS-VAN CREVELD SYNDROME | c0013903 | 4,166 | omim | https://www.omim.org/entry/225500 | 2019-09-22T16:28:22 | {"doid": ["12714"], "mesh": ["D004613"], "omim": ["225500"], "icd-9": ["756.55"], "icd-10": ["Q77.6"], "orphanet": ["289"], "synonyms": ["Alternative titles", "CHONDROECTODERMAL DYSPLASIA", "MESOECTODERMAL DYSPLASIA"]} |
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
## Epidemiology
To date, autosomal recessive PP... | Autosomal recessive palmoplantar keratoderma and congenital alopecia | c1859316 | 4,167 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1366 | 2021-01-23T18:46:11 | {"gard": ["1139"], "mesh": ["C535336"], "omim": ["212360"], "umls": ["C1859316"], "icd-10": ["Q82.8", "Q84.0"], "synonyms": ["Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia", "Cataract-alopecia-sclerodactyly syndrome", "PPK-CA, Wallis type", "Palmoplantar keratoderma and congenital alopecia, Wa... |
Cernunnos deficiency
Other namesCombined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, Cernunnos XLFD
Cernunnos deficiency is inherited via autosomal recession
SymptomsMicrocephaly[1]
CausesNHEJ1 gene mutation[1]
Diagnostic methodClinical features[1]
Treatmen... | Cernunnos deficiency | c1969799 | 4,168 | wikipedia | https://en.wikipedia.org/wiki/Cernunnos_deficiency | 2021-01-18T18:46:29 | {"mesh": ["C566970"], "umls": ["C1969799"], "orphanet": ["169079"], "wikidata": ["Q5064568"]} |
A number sign (#) is used with this entry because the Silverman-Handmaker type of dyssegmental dysplasia (DDSH) is caused by homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2; 142461) on chromosome 1p36.
See also Schwartz-Jampel syndrome type 1 (SJS1; 255800), an allelic disorder ... | DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE | c1857100 | 4,169 | omim | https://www.omim.org/entry/224410 | 2019-09-22T16:28:28 | {"doid": ["0090032"], "mesh": ["C537998"], "omim": ["224410"], "orphanet": ["1865"], "synonyms": ["ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE", "Alternative titles", "DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPE"]} |
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are di... | Isolated lissencephaly sequence | c0431375 | 4,170 | medlineplus | https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence/ | 2021-01-27T08:25:15 | {"gard": ["5049"], "mesh": ["D054221"], "omim": ["607432", "611603", "300067"], "synonyms": []} |
Catherine of Siena
Anorexia mirabilis, also known as holy anorexia or inedia prodigiosa or colloquially as fasting girls,[1][2][3] is an eating disorder, similar to that of anorexia nervosa,[1][2] that was common, but not restricted to the Middle Ages in Europe, largely affecting Catholic nuns and religious women.[3... | Anorexia mirabilis | None | 4,171 | wikipedia | https://en.wikipedia.org/wiki/Anorexia_mirabilis | 2021-01-18T18:56:15 | {"wikidata": ["Q567713"]} |
"MIDD" redirects here. For the liberal arts college in Vermont, see Middlebury College.
Diabetes and deafness
Other namesDiabetes mellitus and deafness, maternally inherited, MIDD, Ballinger-Wallace syndrome, Diabetes mellitus type II with deafness,
This condition is inherited via a mitochondrial inheritance man... | Diabetes and deafness | c0342289 | 4,172 | wikipedia | https://en.wikipedia.org/wiki/Diabetes_and_deafness | 2021-01-18T18:38:27 | {"gard": ["4003"], "mesh": ["C536246"], "umls": ["C0342289"], "orphanet": ["225"], "wikidata": ["Q4313947"]} |
Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
## Epidemiology
The prevalence is estimated between 1/250,000 and 1/1,000,000 individuals. The male to female ratio is 1:1. PLS is found in all ethnic groups.
## C... | Papillon-Lefèvre syndrome | c0030360 | 4,173 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=678 | 2021-01-23T18:29:45 | {"gard": ["3100"], "mesh": ["D010214"], "omim": ["245000"], "umls": ["C0030360"], "icd-10": ["Q82.8"], "synonyms": ["Keratosis palmoplantar-periodontopathy syndrome", "PLS"]} |
## Clinical Features
McKusick (1971) observed transverse striae of the lumbar area in father and 2 sons. The striae appeared in their teens and faded as they grew older. Carr and Hamilton (1969) noted that such striae are more common in males. Weber (1935, 1935) called them idiopathic striae atrophicae of puberty. ... | STRIAE DISTENSAE, FAMILIAL | c1861447 | 4,174 | omim | https://www.omim.org/entry/185200 | 2019-09-22T16:34:05 | {"mesh": ["C566104"], "omim": ["185200"]} |
A number sign (#) is used with this entry because of evidence that retinal cone dystrophy with supernormal rod electroretinogram (RCD3A) can be caused by mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H; 601190) on chromosome 12p13. In addition, achromatopsia-6 (ACHM6) can be caus... | RETINAL CONE DYSTROPHY 3A | c0152200 | 4,175 | omim | https://www.omim.org/entry/610024 | 2019-09-22T16:05:13 | {"doid": ["0050795"], "mesh": ["D003117"], "omim": ["610024"], "orphanet": ["49382"], "synonyms": ["Alternative titles", "CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED"], "genereviews": ["NBK1418"]} |
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).
## Clinical description
In RCM type 1, cyanosis from birth is the only symptom. It is well-tolerated and is associated with ... | Hereditary methemoglobinemia | c0272087 | 4,176 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=621 | 2021-01-23T17:57:42 | {"gard": ["2659"], "mesh": ["C580280"], "omim": ["250700", "250790", "250800"], "umls": ["C0272087"], "icd-10": ["D74.0"], "synonyms": ["Autosomal recessive methemoglobinemia", "Congenital methemoglobinemia"]} |
A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics.
*[v]: View this ... | Unexplained long-lasting fever/inflammatory syndrome | None | 4,177 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251332 | 2021-01-23T17:46:12 | {"synonyms": ["Persistent fever/inflammation of unknown origin"]} |
Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis.
*[v]: View this template
... | Spindle cell hemangioma | c1304508 | 4,178 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=210584 | 2021-01-23T17:00:46 | {"umls": ["C1304508"], "icd-10": ["D18.0"], "synonyms": ["Spindle cell hemangioendothelioma"]} |
Parastremmatic dwarfism
Other namesParastremmatic dysplasia[1]
Parastremmatic dwarfism has an autosomal dominant pattern of inheritance
Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting ... | Parastremmatic dwarfism | c1868616 | 4,179 | wikipedia | https://en.wikipedia.org/wiki/Parastremmatic_dwarfism | 2021-01-18T19:05:08 | {"gard": ["4222"], "mesh": ["C537172"], "umls": ["C1868616"], "orphanet": ["2646"], "wikidata": ["Q7136039"]} |
Beardwell (1969) described a family of Greek Cypriot extraction in which at least 8 persons in 4 sibships in 2 generations were known to have a combination of ankylosing vertebral hyperostosis and tylosis (see 144200). The tylosis was a punctate hyperkeratosis of the soles and palms. In addition, 6 persons had ty... | ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS | c0020498 | 4,180 | omim | https://www.omim.org/entry/106400 | 2019-09-22T16:44:59 | {"doid": ["6652"], "mesh": ["D004057"], "omim": ["106400"], "icd-9": ["721.6"], "icd-10": ["M48.1"], "orphanet": ["2206"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that susceptibility to obesity is conferred by heterozygous variation in the MRAP2 gene (615410) on chromosome 16q14. One such patient has been reported.
For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see ... | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18 | c3714940 | 4,181 | omim | https://www.omim.org/entry/615457 | 2019-09-22T15:52:04 | {"omim": ["615457"], "synonyms": ["Alternative titles", "OBESITY, SUSCEPTIBILITY TO"]} |
Arteriosclerosis obliterans
Abdominal aorta
SpecialtyCardiology
Arteriosclerosis obliterans is an occlusive arterial disease most prominently affecting the abdominal aorta and the small- and medium-sized arteries of the lower extremities, which may lead to absent dorsalis pedis, posterior tibial, and/or popl... | Arteriosclerosis obliterans | c0003851 | 4,182 | wikipedia | https://en.wikipedia.org/wiki/Arteriosclerosis_obliterans | 2021-01-18T18:32:37 | {"mesh": ["D001162"], "umls": ["C0003851"], "wikidata": ["Q4797546"]} |
Irregular Sleep Wake Rhythm Type
Other namesCircadian rhythm sleep disorder - irregular sleep-wake type[1]
SpecialtyNeurology
Irregular sleep–wake rhythm is a rare form of circadian rhythm sleep disorder. It is characterized by numerous naps throughout the 24-hour period, no main nighttime sleep episode ... | Irregular sleep–wake rhythm | None | 4,183 | wikipedia | https://en.wikipedia.org/wiki/Irregular_sleep%E2%80%93wake_rhythm | 2021-01-18T18:31:34 | {"icd-9": ["327.33"], "icd-10": ["G47.2"], "wikidata": ["Q3454018"]} |
Not to be confused with carcinoid. Compare and contrast chancre.
Chancroid
Other namesSoft chancre[1] and Ulcus molle[2]
A chancroid lesion on penis
SpecialtyInfectious disease
Chancroid (/ˈʃæŋkrɔɪd/ SHANG-kroyd) is a bacterial sexually transmitted infection characterized by painful sores on the genitalia... | Chancroid | c0007947 | 4,184 | wikipedia | https://en.wikipedia.org/wiki/Chancroid | 2021-01-18T18:57:05 | {"gard": ["9522"], "mesh": ["D002602"], "umls": ["C0007947"], "wikidata": ["Q31798"]} |
## Summary
### Clinical characteristics.
Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay... | Weiss-Kruszka Syndrome | None | 4,185 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK549204/ | 2021-01-18T20:49:38 | {"synonyms": ["ZNF462 Disorder"]} |
A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.
## Epidemiology
The exact prevalence is unknown. It is extremely rare in Caucasians but it is more common in dark-skinned populations, particularly in young adults.
## Clinical description
Indurated plaques or ... | Actinic lichen planus | c0406365 | 4,186 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254395 | 2021-01-23T18:42:50 | {"gard": ["12673"], "umls": ["C0406365"], "icd-10": ["L43.8"], "synonyms": ["Actinic LP", "Lichen planus actinus", "Lichen planus subtropicus", "Lichen planus tropicus", "Lichenoid melanodermatitis", "Summertime actinic lichenoid eruption"]} |
Pro-abortion demonstration in the Netherlands in 1971.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Abortion in the Netherlands" – news · newspapers · books · scho... | Abortion in the Netherlands | None | 4,187 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_the_Netherlands | 2021-01-18T19:02:26 | {"wikidata": ["Q2919952"]} |
A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.
*... | Alopecia antibody deficiency | None | 4,188 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1006 | 2021-01-23T17:55:52 | {"synonyms": ["Ipp-Gelfand syndrome"]} |
A number sign (#) is used with this entry because of evidence that frontotemporal dementia mapping to chromosome 3 is caused by heterozygous mutation in the CHMP2B gene (609512) on chromosome 3p11.
Mutation in the CHMP2B gene can also cause a form of amyotrophic lateral sclerosis (ALS17; 614696).
Description
A sub... | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED | c0338451 | 4,189 | omim | https://www.omim.org/entry/600795 | 2019-09-22T16:15:48 | {"doid": ["0111227"], "mesh": ["D057180"], "omim": ["600795"], "orphanet": ["282", "275864"], "synonyms": ["Alternative titles", "DMT1", "DEMENTIA, FAMILIAL NONSPECIFIC"], "genereviews": ["NBK1199"]} |
Bouchard's nodes
SpecialtyRheumatology
Bouchard's nodes are hard, bony outgrowths or gelatinous cysts on the proximal interphalangeal joints (the middle joints of fingers or toes). They are seen in osteoarthritis, where they are caused by formation of calcific spurs of the articular (joint) cartilage. Much les... | Bouchard's nodes | c0263780 | 4,190 | wikipedia | https://en.wikipedia.org/wiki/Bouchard%27s_nodes | 2021-01-18T19:08:31 | {"umls": ["C0263780"], "icd-10": ["M15.2"], "wikidata": ["Q2520898"]} |
For the dental condition sometimes called alveolitis, see dry socket.
Hypersensitivity pneumonitis
Other namesAllergic alveolitis, bagpipe lung, extrinsic allergic alveolitis (EAA)
High magnification photomicrograph of a lung biopsy taken showing chronic hypersensitivity pneumonitis (H&E), showing mild expan... | Hypersensitivity pneumonitis | c0002390 | 4,191 | wikipedia | https://en.wikipedia.org/wiki/Hypersensitivity_pneumonitis | 2021-01-18T19:07:15 | {"gard": ["12"], "mesh": ["D000542"], "umls": ["C0002390"], "orphanet": ["31740"], "wikidata": ["Q35890"]} |
Burton's line
Differential diagnosisChronic lead poisoning
Burton's line, also known as the Burton line or Burtonian line, is a clinical sign found in patients with chronic lead poisoning. It is a very thin, black-blue line visible along the margin of the gums, at the base of the teeth.[1][2]
The sign was... | Burton's line | c0266911 | 4,192 | wikipedia | https://en.wikipedia.org/wiki/Burton%27s_line | 2021-01-18T18:32:32 | {"wikidata": ["Q5000947"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Abetalipoproteinemia" – news · newspapers · books · scholar · JSTOR (January 2012) (Learn how and when to remove th... | Abetalipoproteinemia | c0000744 | 4,193 | wikipedia | https://en.wikipedia.org/wiki/Abetalipoproteinemia | 2021-01-18T18:51:25 | {"gard": ["5"], "mesh": ["D000012"], "umls": ["C0000744"], "icd-9": ["272.5"], "orphanet": ["14"], "wikidata": ["Q319812"]} |
## Clinical Features
Wheeler et al. (2000) described an 8-year-old girl who presented with hundreds of milia; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms, along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was... | BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT | c1853919 | 4,194 | omim | https://www.omim.org/entry/605827 | 2019-09-22T16:10:53 | {"mesh": ["C565284"], "omim": ["605827"], "orphanet": ["168632"]} |
Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
As its name suggests, arterial tortuosity syndrome is characterized by blood vessel ... | Arterial tortuosity syndrome | c1859726 | 4,195 | medlineplus | https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome/ | 2021-01-27T08:24:34 | {"gard": ["774"], "mesh": ["C565942"], "omim": ["208050"], "synonyms": []} |
A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-14 (COXPD14) is caused by homozygous or compound heterozygous mutation in the FARS2 gene (611592) on chromosome 6p25.
Biallelic mutation in the FARS2 gene can also cause SPG77 (617046), a much less severe disorder.
Descr... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 | c3554168 | 4,196 | omim | https://www.omim.org/entry/614946 | 2019-09-22T15:53:34 | {"doid": ["0060286"], "omim": ["614946"], "orphanet": ["319519"], "synonyms": ["COXPD14"], "genereviews": ["NBK538658"]} |
Atypical ductal hyperplasia
Very low magnification micrograph of atypical ductal hyperplasia (ADH). The piece with ADH was circled by the pathologist with a marker, as it is so small, and sent for an additional opinion. H&E stain.
SpecialtyGynecology, pathology
Atypical ductal hyperplasia (ADH) is the term u... | Atypical ductal hyperplasia | c1332347 | 4,197 | wikipedia | https://en.wikipedia.org/wiki/Atypical_ductal_hyperplasia | 2021-01-18T18:45:12 | {"mesh": ["D002285"], "umls": ["C1332347"], "wikidata": ["Q4818889"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.
*[v]: View this temp... | Diaphragmatic hernia-short bowel-asplenia syndrome | None | 4,198 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=527468 | 2021-01-23T18:41:23 | {} |
CD25 deficiency
Other namesInterleukin-2 receptor alpha chain deficiency
This condition is inherited in an autosomal recessive manner.
CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha (CD25) (IL2RA) gene. ... | CD25 deficiency | c1853392 | 4,199 | wikipedia | https://en.wikipedia.org/wiki/CD25_deficiency | 2021-01-18T18:56:47 | {"mesh": ["C565232"], "umls": ["C1853392"], "orphanet": ["169100"], "wikidata": ["Q5009803"]} |
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