Dash00/mondo_triples_new · Datasets at Hugging Face

query string	document string	label int64
Referring to [START] brmutd [END], 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia.	[START] del(1)(p31p32) (chromosome 1p32-p31 deletion syndrome) [END]	1
The terms [START] verner-morrison syndrome [END] and pancreatic wdha syndrome are often used interchangeably in the literature.	[START] homologous wasting disease (graft versus host disease) [END]	0
[START] alzheimer disease 17, late-onset [END] (or alzheimer disease 17) refers to the same concept.	[START] alzheimer disease 17, late-onset (Alzheimer disease 17) [END]	1
[START] cavernous angioma, familial [END] is synonymous with hereditary cerebral cavernous malformation.	[START] cerebral hemispheric hemangioma (cerebral hemangioma) [END]	0
[START] tuberous sclerosis (tuberous sclerosis complex) [END] falls within the parent group of genetic nervous system disorder.	[START] tuberous sclerosis complex (tuberous sclerosis complex) [END]	1
[START] pneumoconiosis [END] is recognized as a subtype of primary interstitial lung disease specific to adulthood.	[START] rheumatoid pneumoconiosis (Caplan syndrome) [END]	0
The terms [START] tumor of vagina [END] and vagina neoplasm (disease) are often used interchangeably in the literature.	[START] cervix tumor (uterine cervix neoplasm) [END]	0
[START] benign neoplasm of the nasal cavity [END] is an alternative name for benign nasal cavity tumor.	[START] benign neoplasm of nasal cavity (benign neoplasm of nasal cavity) [END]	1
[START] hypophosphatasia, perinatal lethal [END] (or infantile hypophosphatasia) refers to the same concept.	[START] ricket, hypophosphatemic (hypophosphatemic rickets) [END]	0
[START] congenital atresia and stenosis of aorta [END] refers to atresia and stenosis of aorta.	[START] aortic valves stenosis of the child (childhood aortic valve stenosis) [END]	0
[START] lipoid histiocytosis (kerasin type) [END] is an alternative name for acute cerebral gaucher disease.	[START] kerasin histiocytosis (Gaucher disease) [END]	1
[START] polydactyly, preaxial type 4 [END] (or ppd4 (polysyndactyly 4)) refers to the same concept.	[START] preaxial polydactyly type 4 (polysyndactyly 4) [END]	1
Referring to [START] malignant cardiovascular system neoplasm [END], a primary or metastatic malignant neoplasm involving the cardiovascular system.	[START] heart neoplasm (disease) (heart neoplasm) [END]	0
[START] ighd2 [END] is also known as pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant.	[START] congenital isolated growth hormone deficiency type ia (isolated growth hormone deficiency type IA) [END]	0
Referring to [START] undifferentiated carcinoma of liver and intrahepatic biliary tract [END], patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice.	[START] rare epithelial tumor of liver and intrahepatic biliary tract (rare epithelial tumor of liver and intrahepatic biliary tract) [END]	0
[START] cutis laxa, autosomal dominant type 2 [END] (or fbln5 autosomal dominant cutis laxa) refers to the same concept.	[START] cutis laxa, autosomal dominant type 2 (cutis laxa, autosomal dominant 2) [END]	1
[START] charcot-marie-tooth disease type 2 caused by mutation in trpv4 [END] (or charcot-marie-tooth disease, axonal, autosomal dominant, type 2c) refers to the same concept.	[START] charcot-marie-tooth disease, axonal, autosomal recessive, type 2s (Charcot-Marie-Tooth disease axonal type 2S) [END]	0
[START] dermatitis, bovine digital [END] is an alternative name for dermatitides, digital.	[START] digital dermatitides, ovine (digital dermatitis in cattle) [END]	1
[START] ofc (otofaciocervical syndrome 1) [END] refers to otofaciocervical syndrome 1; otfcs.	[START] ofc1 (otofaciocervical syndrome 1) (otofaciocervical syndrome 1) [END]	1
[START] hereditary spastic paraplegia caused by mutation in fa2h [END] (or spastic paraplegia 35, autosomal recessive; spg35) refers to the same concept.	[START] hdls (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) [END]	0
The terms [START] ataxia, episodic, with myokymia [END] and familial paroxysmal kinesigenic ataxia and continuous myokymia are often used interchangeably in the literature.	[START] myokymia with periodic ataxia (episodic ataxia type 1) [END]	1
[START] lopes-marques de faria syndrome [END] is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth.	[START] lethal encephalopathy due to mitochondrial and peroxisomal fission defect (lethal encephalopathy due to mitochondrial and peroxisomal fission defect) [END]	0
[START] diabetes mellitus type 2 [END] is an alternative name for maturity-onset diabetes of the young, type 1; mody1.	[START] maturity-onset diabetes of the young, type 1 (maturity-onset diabetes of the young type 1) [END]	1
[START] familial thoracic aortic aneurysm and aortic dissection caused by mutation in acta2 [END] is synonymous with aortic aneurysm, familial thoracic 6.	[START] aat6 (aortic aneurysm, familial thoracic 6) (aortic aneurysm, familial thoracic 6) [END]	1
[START] opdm2 [END] is synonymous with oculopharyngodistal myopathy 2; opdm2.	[START] microvascular complications of diabetes, susceptibility to, 2 (microvascular complications of diabetes, susceptibility to, 2) [END]	0
[START] malignant prolactin producing tumor of pituitary gland [END] refers to malignant prolactinoma (prolactin-producing pituitary gland carcinoma).	[START] malignant prolactin producing pituitary neoplasm (prolactin-producing pituitary gland carcinoma) [END]	1
[START] gpsc (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) [END] can be grouped under a broader class, leukodystrophy.	[START] familial alzheimer-like prion disease (familial Alzheimer-like prion disease) [END]	0
[START] arthrogryposis, mental retardation, and seizures [END] has basis in dysfunction of SLC35A3	[START] congenital disorder of glycosylation due to pigg deficiency (intellectual disability, autosomal recessive 53) [END]	0
[START] d-2-hydroxyglutaric aciduria 2; d2hga2 [END] is synonymous with d-2-hydroxyglutaric aciduria caused by mutation in idh2.	[START] d-2-hydroxyglutaric aciduria caused by mutation in idh2 (d-2-hydroxyglutaric aciduria 2) [END]	1
[START] autosomal dominant microcephaly [END] is also known as microcephaly, autosomal dominant.	[START] microcephaly, autosomal dominant (autosomal dominant primary microcephaly) [END]	1
[START] familial hyperaldosteronism type ii [END] is also known as hyperaldosteronism, familial, type ii; hald2.	[START] familial hyperaldosteronism type 2 (familial hyperaldosteronism type II) [END]	1
The terms [START] cdan4 [END] and anemia, congenital dyserythropoietic, type iv; cdan4 are often used interchangeably in the literature.	[START] cda type iv (congenital dyserythropoietic anemia type 4) [END]	1
[START] pontocerebellar hypoplasia, type 6; pch6 [END] refers to pontocerebellar hypoplasia, type 6.	[START] mitochondrial encephalomyopathy due to coxpd6 (severe X-linked mitochondrial encephalomyopathy) [END]	0
Referring to [START] pancreatic duct adenocarcinoma [END], the prognosis is usually poor.	[START] pancreatic neoplasm (malignant pancreatic neoplasm) (malignant pancreatic neoplasm) [END]	0
[START] generalized lymphatic dysplasia of fotiou [END] is an alternative name for lymphedema, hereditary, iii; lmph3.	[START] lsdmca3 (linear skin defects with multiple congenital anomalies 3) [END]	0
[START] machado disease [END] is included in a broader group of conditions known as autosomal dominant cerebellar ataxia type I.	[START] spinocerebellar ataxia 3 (Machado-Joseph disease) [END]	1
[START] dyslexia [END] is synonymous with dyslexia (disease).	[START] prosopagnosia (prosopagnosia (disease)) [END]	0
[START] maternally-inherited mitochondrial myopathy [END] is an alternative name for maternally-inherited mitochondrial myopathy.	[START] maternally-inherited mitochondrial myopathy (maternally-inherited mitochondrial myopathy) [END]	1
The terms [START] charcot-marie-tooth disease type 2 caused by mutation in hspb1 [END] and autosomal dominant charcot-marie-tooth disease type 2f are often used interchangeably in the literature.	[START] charcot-marie-tooth neuropathy type 2f (Charcot-Marie-Tooth disease axonal type 2F) [END]	1
The concept [START] asthma-related traits, susceptibility to, type 2 [END] is commonly categorized under inherited susceptibility to asthma.	[START] asthma-related traits, susceptibility to, 3 (asthma-related traits, susceptibility to, 3) [END]	0
[START] malignant ciliary body melanoma [END] (or ciliary body malignant melanoma) refers to the same concept.	[START] iris malignant melanoma (iris melanoma) [END]	0
[START] hemochromatosis type 1 [END] is also known as hfe-related hemochromatosis.	[START] hemochromatosis, type 1 (hemochromatosis type 1) [END]	1
[START] brca (invasive breast carcinoma) [END] (or invasive breast carcinoma) refers to the same concept.	[START] infiltrating carcinoma of breast (invasive breast carcinoma) [END]	1
[START] hyperinsulinemic hypoglycemia due to sur1 deficiency [END] has basis in dysfunction of ABCC8	[START] familial hyperinsulinemic hypoglycemia (familial hyperinsulinism) [END]	0
[START] convulsions, benign familial infantile, 5 [END] (or seizures, benign familial infantile, 5) refers to the same concept.	[START] seizures, benign familial infantile, 6 (autosomal dominant nocturnal frontal lobe epilepsy 4) [END]	0
The terms [START] anthracosis [END] and coal workers' lung are often used interchangeably in the literature.	[START] brown lung (pulmonary hemosiderosis) [END]	0
[START] developmental and epileptic encephalopathy, 75 [END] is synonymous with developmental and epileptic encephalopathy, 75.	[START] developmental and epileptic encephalopathy, 74 (developmental and epileptic encephalopathy, 74) [END]	0
[START] cystosarcoma phyllodes of breast [END] refers to cystosarcoma phylloides of the breast.	[START] cystosarcoma phyllodes of the breast (breast phyllodes tumor) [END]	1
A common feature of [START] ebstein anomaly [END] is Ebstein anomaly of the tricuspid valve.	[START] epibronchial right pulmonary vein syndrome (scimitar syndrome) [END]	0
The terms [START] myelodysplastic syndrome/neoplasm [END] and preleukemia are often used interchangeably in the literature.	[START] unclassified mixed myelodysplastic/myeloproliferatic syndrome (unclassified myelodysplastic/myeloproliferative disease) [END]	0
Referring to [START] an - acanthosis nigricans [END], a melanotic cutaneous lesion that develops in the axilla and other body folds.	[START] keratosis follicularis (Darier disease) [END]	0
The terms [START] thrombosis, protection against [END] and prothrombin 20210g>a thrombophilia are often used interchangeably in the literature.	[START] venous thrombosis (thrombophilia due to thrombin defect) [END]	1
[START] malignant tumor of anterior two-thirds of tongue [END] refers to malignant tumor of posterior tongue.	[START] malignant tumor of lingual tonsil (tongue cancer) [END]	1
[START] epilepsy, juvenile myoclonic, susceptibility to, 9 [END] (or epilepsy, juvenile myoclonic, susceptibility to, 9; ejm9) refers to the same concept.	[START] myoclonic epilepsy, juvenile, 1 (juvenile myoclonic epilepsy) [END]	0
[START] adenocystic carcinoma of lung [END] (or adenoid cystic carcinoma of lung) refers to the same concept.	[START] uterine cervix adenoid cystic carcinoma (adenoid cystic carcinoma of the cervix uteri) (adenoid cystic carcinoma of the cervix uteri) [END]	0
[START] thymoma with hypogammaglobulinemia [END], also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.	[START] thi (transient hypogammaglobulinemia of infancy) (transient hypogammaglobulinemia of infancy) [END]	0
[START] nevus fusculoceruleus ophthalmomaxillaris [END] is recognized as a subtype of melanocytic nevus.	[START] giant congenital melanocytic nevus (giant congenital nevus) [END]	0
The terms [START] testicular non-seminomatous germ cell tumor [END] and testicular germ cell tumor non-seminomatous are often used interchangeably in the literature.	[START] testicular non-dysgerminomatous germ cell tumor (testicular non-seminomatous germ cell tumor) [END]	1
[START] bckdkd [END] is part of the broader category of autosomal recessive disease.	[START] ketoacidosis due to scot deficiency (succinyl-CoA:3-ketoacid CoA transferase deficiency) [END]	0
[START] deafness, sensorineural, with imperforate anus and hypoplastic thumbs [END] (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.	[START] tbs1 (townes-brocks syndrome) (Townes-Brocks syndrome) [END]	1
[START] vitiligo-associated multiple autoimmune disease susceptibility 1; vamas1 [END] is synonymous with vamas1.	[START] familial systemic lupus erythematosus (autosomal systemic lupus erythematosus type 16) [END]	0
[START] retinitis pigmentosa type 49 [END] is synonymous with retinitis pigmentosa 49.	[START] retinitis pigmentosa 48 (retinitis pigmentosa 48) [END]	0
[START] thyroid stimulating hormone producing pituitary gland adenoma [END] is synonymous with thyroid stimulating hormone-secreting pituitary adenoma.	[START] tsh secreting adenoma of the pituitary (TSH-secreting pituitary adenoma) (TSH-secreting pituitary adenoma) [END]	1
Medical literature refers to [START] lactic acidosis, chronic adult form [END] as a form of Mendelian disease.	[START] dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency (pyruvate dehydrogenase E2 deficiency) [END]	0
[START] renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome [END] (or renal-hepatic-pancreatic dysplasia with dandy-walker cyst) refers to the same concept.	[START] meckel syndrome 7 (NPHP3-related Meckel-like syndrome) [END]	1
[START] terminal chromosome 10q26 deletion syndrome [END] is synonymous with distal deletion 10q.	[START] 10q24 microduplication syndrome (split hand-foot malformation 3) [END]	0
The majority of [START] cancer of vagina (vaginal carcinoma) [END]s are squamous cell carcinomas.	[START] mammalian vulva carcinoma (vulvar carcinoma) [END]	0
The terms [START] cranium bifidum [END] and bifid cranium are often used interchangeably in the literature.	[START] cranial meningocele (meningoencephalocele) [END]	0
[START] csf rhinorrheas [END] refers to cerebrospinal fluid rhinorrhea, post-traumatic.	[START] cerebrospinal fluid leak, spontaneous (cerebrospinal fluid leak) [END]	0
[START] adrvcl [END] (or hereditary vascular retinopathy) refers to the same concept.	[START] hvr (retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations) (retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations) [END]	1
[START] ectodermal dysplasia 3, tooth/nail type [END] is synonymous with witkop syndrome.	[START] ectodermal dysplasia, 'pure' hair/nail type (ectodermal dysplasia 4, hair/nail type) [END]	0
[START] rare odontologic disease [END] is localized to the dentition.	[START] rare systemic disease (systemic disease) [END]	0
[START] carrion's disease [END] refers to carrión disease.	[START] deerfly fever (tularemia) [END]	0
Referring to [START] distal trisomy type 22q [END], congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.	[START] distal duplication 22q (distal trisomy 22q) [END]	1
Medical literature refers to [START] triphalangeal thumbs and dislocation of patella [END] as a form of syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy.	[START] polydactyly of triphalangeal thumb (polydactyly of a triphalangeal thumb) [END]	0
[START] placenta increta [END] is also known as placenta accreta.	[START] malignant placenta tumor (placenta cancer) [END]	0
[START] thymoma, type c [END] is an alternative name for thymoma, type c (morphologic abnormality).	[START] polygonal cell thymoma (cortical thymoma) [END]	0
Referring to [START] hydrocephalus, skeletal anomalies, and mental disturbance [END], other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	[START] waardenburg-shah syndrome (waardenburg syndrome type 4a) (Waardenburg syndrome type 4A) [END]	0
In ontology terms, [START] hhrrd [END] is a child of the broader category Mendelian disease.	[START] hypoparathyroidism-retardation-dysmorphism syndrome; hrd (hypoparathyroidism-retardation-dysmorphism syndrome) [END]	0
The terms [START] glycogenosis type 0a [END] and glycogen storage disease due to hepatic glycogen synthase deficiency are often used interchangeably in the literature.	[START] liver glycogen phosphorylase deficiency (glycogen storage disease VI) [END]	0
[START] congenital bile acid synthesis defect caused by mutation in hsd3b7 [END] is an alternative name for congenital bile acid synthesis defect type 1.	[START] congenital short bowel syndrome 1 (congenital short bowel syndrome 1) [END]	0
[START] tumor of the nervous system (nervous system neoplasm) [END] is also known as nervous system tumor.	[START] neoplasm of nervous system (nervous system neoplasm) (nervous system neoplasm) [END]	1
[START] high risk non proliferative diabetic retinopathy [END] refers to high risk non proliferative diabetic retinopathy.	[START] severe npdr (severe nonproliferative diabetic retinopathy) [END]	1
[START] neuroendocrine neoplasm of the colon (neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor) [END] is synonymous with colonic net.	[START] colonic net (neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor) [END]	1
[START] eosinophilic granulomatous vasculitides [END] is included in a broader group of conditions known as syndromic disease.	[START] granulomatous angiitis, allergic (eosinophilic granulomatosis with polyangiitis) [END]	1
[START] csnb, complete, autosomal recessive [END] is synonymous with csnb, complete, autosomal recessive.	[START] night blindness, congenital stationary, autosomal dominant type 2 (congenital stationary night blindness autosomal dominant 2) [END]	0
[START] malignant eccrine spiradenoma (morphologic abnormality) [END] usually grows in the upper extremities, lower extremities, trunk, and head and neck.	[START] carcinoma, eccrine gland, malignant (eccrine carcinoma) [END]	0
[START] neoplasm of rathke's pouch [END] can be grouped under a broader class, disease of facial skeleton.	[START] craniopharyngeal duct tumor (craniopharyngioma) [END]	1
[START] familial hyperaldosteronism type iii [END] refers to familial hyperaldosteronism type iii.	[START] adrenal hyperplasia hypertensive form (congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency) [END]	0
[START] isolated glycerol kinase deficiency [END] refers to nonsyndromic glycerol kinase deficiency.	[START] glycogen storage disease due to phosphoglycerate kinase 1 deficiency (glycogen storage disease due to phosphoglycerate kinase 1 deficiency) [END]	0
[START] hyperprolinemia type 2 [END] (or aldh4a1 hyperprolinemia) refers to the same concept.	[START] hprt deficiency, partial (hypoxanthine guanine phosphoribosyltransferase partial deficiency) [END]	0
[START] ibd24 [END] is synonymous with inflammatory bowel disease 24.	[START] inflammatory bowel disease 19; ibd19 (inflammatory bowel disease 19) [END]	0
[START] gibraltar fever [END] is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals.	[START] yellow fever (yellow fever) [END]	0
[START] agammaglobulinemia 6, autosomal recessive; agm6 [END] refers to agammaglobulinemia, autosomal recessive, due to cd79b defect.	[START] bruton's type agammaglobulinemia (Bruton-type agammaglobulinemia) [END]	0
The terms [START] arih (autosomal recessive congenital ichthyosis 11) [END] and ichthyosis-hypotrichosis syndrome are often used interchangeably in the literature.	[START] ifah syndrome (autosomal recessive congenital ichthyosis 11) [END]	1
The concept [START] mental retardation, autosomal recessive type 50 [END] is commonly categorized under autosomal recessive non-syndromic intellectual disability.	[START] mental retardation, autosomal recessive 50; mrt50 (intellectual disability, autosomal recessive 50) [END]	1
[START] mental retardation, autosomal dominant type 41 [END] is part of the broader category of autosomal dominant non-syndromic intellectual disability.	[START] autosomal dominant non-syndromic intellectual disability 40 (intellectual disability, autosomal dominant 40) [END]	0
[START] otulin-related autoinflammatory syndrome [END] has basis in dysfunction of OTULIN	[START] arias syndrome (Crigler-Najjar syndrome type 2) [END]	0
[START] upd(21)pat [END] is an alternative name for upd(21)pat.	[START] postaxial polydactyly type a (postaxial polydactyly type A (disease)) [END]	0
[START] choriocarcinoma of the adult cns [END] (or adult choriocarcinoma of the central nervous system) refers to the same concept.	[START] choriocarcinoma of the pediatric cns (pediatric CNS choriocarcinoma) [END]	0

Referring to [START] brmutd [END], 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia.

[START] del(1)(p31p32) (chromosome 1p32-p31 deletion syndrome) [END]

1

The terms [START] verner-morrison syndrome [END] and pancreatic wdha syndrome are often used interchangeably in the literature.

[START] homologous wasting disease (graft versus host disease) [END]

0

[START] alzheimer disease 17, late-onset [END] (or alzheimer disease 17) refers to the same concept.

[START] alzheimer disease 17, late-onset (Alzheimer disease 17) [END]

1

[START] cavernous angioma, familial [END] is synonymous with hereditary cerebral cavernous malformation.

[START] cerebral hemispheric hemangioma (cerebral hemangioma) [END]

0

[START] tuberous sclerosis (tuberous sclerosis complex) [END] falls within the parent group of genetic nervous system disorder.

[START] tuberous sclerosis complex (tuberous sclerosis complex) [END]

1

[START] pneumoconiosis [END] is recognized as a subtype of primary interstitial lung disease specific to adulthood.

[START] rheumatoid pneumoconiosis (Caplan syndrome) [END]

0

The terms [START] tumor of vagina [END] and vagina neoplasm (disease) are often used interchangeably in the literature.

[START] cervix tumor (uterine cervix neoplasm) [END]

0

[START] benign neoplasm of the nasal cavity [END] is an alternative name for benign nasal cavity tumor.

[START] benign neoplasm of nasal cavity (benign neoplasm of nasal cavity) [END]

1

[START] hypophosphatasia, perinatal lethal [END] (or infantile hypophosphatasia) refers to the same concept.

[START] ricket, hypophosphatemic (hypophosphatemic rickets) [END]

0

[START] congenital atresia and stenosis of aorta [END] refers to atresia and stenosis of aorta.

[START] aortic valves stenosis of the child (childhood aortic valve stenosis) [END]

0

[START] lipoid histiocytosis (kerasin type) [END] is an alternative name for acute cerebral gaucher disease.

[START] kerasin histiocytosis (Gaucher disease) [END]

1

[START] polydactyly, preaxial type 4 [END] (or ppd4 (polysyndactyly 4)) refers to the same concept.

[START] preaxial polydactyly type 4 (polysyndactyly 4) [END]

1

Referring to [START] malignant cardiovascular system neoplasm [END], a primary or metastatic malignant neoplasm involving the cardiovascular system.

[START] heart neoplasm (disease) (heart neoplasm) [END]

0

[START] ighd2 [END] is also known as pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant.

[START] congenital isolated growth hormone deficiency type ia (isolated growth hormone deficiency type IA) [END]

0

Referring to [START] undifferentiated carcinoma of liver and intrahepatic biliary tract [END], patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice.

[START] rare epithelial tumor of liver and intrahepatic biliary tract (rare epithelial tumor of liver and intrahepatic biliary tract) [END]

0

[START] cutis laxa, autosomal dominant type 2 [END] (or fbln5 autosomal dominant cutis laxa) refers to the same concept.

[START] cutis laxa, autosomal dominant type 2 (cutis laxa, autosomal dominant 2) [END]

1

[START] charcot-marie-tooth disease type 2 caused by mutation in trpv4 [END] (or charcot-marie-tooth disease, axonal, autosomal dominant, type 2c) refers to the same concept.

[START] charcot-marie-tooth disease, axonal, autosomal recessive, type 2s (Charcot-Marie-Tooth disease axonal type 2S) [END]

0

[START] dermatitis, bovine digital [END] is an alternative name for dermatitides, digital.

[START] digital dermatitides, ovine (digital dermatitis in cattle) [END]

1

[START] ofc (otofaciocervical syndrome 1) [END] refers to otofaciocervical syndrome 1; otfcs.

[START] ofc1 (otofaciocervical syndrome 1) (otofaciocervical syndrome 1) [END]

1

[START] hereditary spastic paraplegia caused by mutation in fa2h [END] (or spastic paraplegia 35, autosomal recessive; spg35) refers to the same concept.

[START] hdls (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) [END]

0

The terms [START] ataxia, episodic, with myokymia [END] and familial paroxysmal kinesigenic ataxia and continuous myokymia are often used interchangeably in the literature.

[START] myokymia with periodic ataxia (episodic ataxia type 1) [END]

1

[START] lopes-marques de faria syndrome [END] is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth.

[START] lethal encephalopathy due to mitochondrial and peroxisomal fission defect (lethal encephalopathy due to mitochondrial and peroxisomal fission defect) [END]

0

[START] diabetes mellitus type 2 [END] is an alternative name for maturity-onset diabetes of the young, type 1; mody1.

[START] maturity-onset diabetes of the young, type 1 (maturity-onset diabetes of the young type 1) [END]

1

[START] familial thoracic aortic aneurysm and aortic dissection caused by mutation in acta2 [END] is synonymous with aortic aneurysm, familial thoracic 6.

[START] aat6 (aortic aneurysm, familial thoracic 6) (aortic aneurysm, familial thoracic 6) [END]

1

[START] opdm2 [END] is synonymous with oculopharyngodistal myopathy 2; opdm2.

[START] microvascular complications of diabetes, susceptibility to, 2 (microvascular complications of diabetes, susceptibility to, 2) [END]

0

[START] malignant prolactin producing tumor of pituitary gland [END] refers to malignant prolactinoma (prolactin-producing pituitary gland carcinoma).

[START] malignant prolactin producing pituitary neoplasm (prolactin-producing pituitary gland carcinoma) [END]

1

[START] gpsc (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) [END] can be grouped under a broader class, leukodystrophy.

[START] familial alzheimer-like prion disease (familial Alzheimer-like prion disease) [END]

0

[START] arthrogryposis, mental retardation, and seizures [END] has basis in dysfunction of SLC35A3

[START] congenital disorder of glycosylation due to pigg deficiency (intellectual disability, autosomal recessive 53) [END]

0

[START] d-2-hydroxyglutaric aciduria 2; d2hga2 [END] is synonymous with d-2-hydroxyglutaric aciduria caused by mutation in idh2.

[START] d-2-hydroxyglutaric aciduria caused by mutation in idh2 (d-2-hydroxyglutaric aciduria 2) [END]

1

[START] autosomal dominant microcephaly [END] is also known as microcephaly, autosomal dominant.

[START] microcephaly, autosomal dominant (autosomal dominant primary microcephaly) [END]

1

[START] familial hyperaldosteronism type ii [END] is also known as hyperaldosteronism, familial, type ii; hald2.

[START] familial hyperaldosteronism type 2 (familial hyperaldosteronism type II) [END]

1

The terms [START] cdan4 [END] and anemia, congenital dyserythropoietic, type iv; cdan4 are often used interchangeably in the literature.

[START] cda type iv (congenital dyserythropoietic anemia type 4) [END]

1

[START] pontocerebellar hypoplasia, type 6; pch6 [END] refers to pontocerebellar hypoplasia, type 6.

[START] mitochondrial encephalomyopathy due to coxpd6 (severe X-linked mitochondrial encephalomyopathy) [END]

0

Referring to [START] pancreatic duct adenocarcinoma [END], the prognosis is usually poor.

[START] pancreatic neoplasm (malignant pancreatic neoplasm) (malignant pancreatic neoplasm) [END]

0

[START] generalized lymphatic dysplasia of fotiou [END] is an alternative name for lymphedema, hereditary, iii; lmph3.

[START] lsdmca3 (linear skin defects with multiple congenital anomalies 3) [END]

0

[START] machado disease [END] is included in a broader group of conditions known as autosomal dominant cerebellar ataxia type I.

[START] spinocerebellar ataxia 3 (Machado-Joseph disease) [END]

1

[START] dyslexia [END] is synonymous with dyslexia (disease).

[START] prosopagnosia (prosopagnosia (disease)) [END]

0

[START] maternally-inherited mitochondrial myopathy [END] is an alternative name for maternally-inherited mitochondrial myopathy.

[START] maternally-inherited mitochondrial myopathy (maternally-inherited mitochondrial myopathy) [END]

1

The terms [START] charcot-marie-tooth disease type 2 caused by mutation in hspb1 [END] and autosomal dominant charcot-marie-tooth disease type 2f are often used interchangeably in the literature.

[START] charcot-marie-tooth neuropathy type 2f (Charcot-Marie-Tooth disease axonal type 2F) [END]

1

The concept [START] asthma-related traits, susceptibility to, type 2 [END] is commonly categorized under inherited susceptibility to asthma.

[START] asthma-related traits, susceptibility to, 3 (asthma-related traits, susceptibility to, 3) [END]

0

[START] malignant ciliary body melanoma [END] (or ciliary body malignant melanoma) refers to the same concept.

[START] iris malignant melanoma (iris melanoma) [END]

0

[START] hemochromatosis type 1 [END] is also known as hfe-related hemochromatosis.

[START] hemochromatosis, type 1 (hemochromatosis type 1) [END]

1

[START] brca (invasive breast carcinoma) [END] (or invasive breast carcinoma) refers to the same concept.

[START] infiltrating carcinoma of breast (invasive breast carcinoma) [END]

1

[START] hyperinsulinemic hypoglycemia due to sur1 deficiency [END] has basis in dysfunction of ABCC8

[START] familial hyperinsulinemic hypoglycemia (familial hyperinsulinism) [END]

0

[START] convulsions, benign familial infantile, 5 [END] (or seizures, benign familial infantile, 5) refers to the same concept.

[START] seizures, benign familial infantile, 6 (autosomal dominant nocturnal frontal lobe epilepsy 4) [END]

0

The terms [START] anthracosis [END] and coal workers' lung are often used interchangeably in the literature.

[START] brown lung (pulmonary hemosiderosis) [END]

0

[START] developmental and epileptic encephalopathy, 75 [END] is synonymous with developmental and epileptic encephalopathy, 75.

[START] developmental and epileptic encephalopathy, 74 (developmental and epileptic encephalopathy, 74) [END]

0

[START] cystosarcoma phyllodes of breast [END] refers to cystosarcoma phylloides of the breast.

[START] cystosarcoma phyllodes of the breast (breast phyllodes tumor) [END]

1

A common feature of [START] ebstein anomaly [END] is Ebstein anomaly of the tricuspid valve.

[START] epibronchial right pulmonary vein syndrome (scimitar syndrome) [END]

0

The terms [START] myelodysplastic syndrome/neoplasm [END] and preleukemia are often used interchangeably in the literature.

[START] unclassified mixed myelodysplastic/myeloproliferatic syndrome (unclassified myelodysplastic/myeloproliferative disease) [END]

0

Referring to [START] an - acanthosis nigricans [END], a melanotic cutaneous lesion that develops in the axilla and other body folds.

[START] keratosis follicularis (Darier disease) [END]

0

The terms [START] thrombosis, protection against [END] and prothrombin 20210g>a thrombophilia are often used interchangeably in the literature.

[START] venous thrombosis (thrombophilia due to thrombin defect) [END]

1

[START] malignant tumor of anterior two-thirds of tongue [END] refers to malignant tumor of posterior tongue.

[START] malignant tumor of lingual tonsil (tongue cancer) [END]

1

[START] epilepsy, juvenile myoclonic, susceptibility to, 9 [END] (or epilepsy, juvenile myoclonic, susceptibility to, 9; ejm9) refers to the same concept.

[START] myoclonic epilepsy, juvenile, 1 (juvenile myoclonic epilepsy) [END]

0

[START] adenocystic carcinoma of lung [END] (or adenoid cystic carcinoma of lung) refers to the same concept.

[START] uterine cervix adenoid cystic carcinoma (adenoid cystic carcinoma of the cervix uteri) (adenoid cystic carcinoma of the cervix uteri) [END]

0

[START] thymoma with hypogammaglobulinemia [END], also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.

[START] thi (transient hypogammaglobulinemia of infancy) (transient hypogammaglobulinemia of infancy) [END]

0

[START] nevus fusculoceruleus ophthalmomaxillaris [END] is recognized as a subtype of melanocytic nevus.

[START] giant congenital melanocytic nevus (giant congenital nevus) [END]

0

The terms [START] testicular non-seminomatous germ cell tumor [END] and testicular germ cell tumor non-seminomatous are often used interchangeably in the literature.

[START] testicular non-dysgerminomatous germ cell tumor (testicular non-seminomatous germ cell tumor) [END]

1

[START] bckdkd [END] is part of the broader category of autosomal recessive disease.

[START] ketoacidosis due to scot deficiency (succinyl-CoA:3-ketoacid CoA transferase deficiency) [END]

0

[START] deafness, sensorineural, with imperforate anus and hypoplastic thumbs [END] (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.

[START] tbs1 (townes-brocks syndrome) (Townes-Brocks syndrome) [END]

1

[START] vitiligo-associated multiple autoimmune disease susceptibility 1; vamas1 [END] is synonymous with vamas1.

[START] familial systemic lupus erythematosus (autosomal systemic lupus erythematosus type 16) [END]

0

[START] retinitis pigmentosa type 49 [END] is synonymous with retinitis pigmentosa 49.

[START] retinitis pigmentosa 48 (retinitis pigmentosa 48) [END]

0

[START] thyroid stimulating hormone producing pituitary gland adenoma [END] is synonymous with thyroid stimulating hormone-secreting pituitary adenoma.

[START] tsh secreting adenoma of the pituitary (TSH-secreting pituitary adenoma) (TSH-secreting pituitary adenoma) [END]

1

Medical literature refers to [START] lactic acidosis, chronic adult form [END] as a form of Mendelian disease.

[START] dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency (pyruvate dehydrogenase E2 deficiency) [END]

0

[START] renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome [END] (or renal-hepatic-pancreatic dysplasia with dandy-walker cyst) refers to the same concept.

[START] meckel syndrome 7 (NPHP3-related Meckel-like syndrome) [END]

1

[START] terminal chromosome 10q26 deletion syndrome [END] is synonymous with distal deletion 10q.

[START] 10q24 microduplication syndrome (split hand-foot malformation 3) [END]

0

The majority of [START] cancer of vagina (vaginal carcinoma) [END]s are squamous cell carcinomas.

[START] mammalian vulva carcinoma (vulvar carcinoma) [END]

0

The terms [START] cranium bifidum [END] and bifid cranium are often used interchangeably in the literature.

[START] cranial meningocele (meningoencephalocele) [END]

0

[START] csf rhinorrheas [END] refers to cerebrospinal fluid rhinorrhea, post-traumatic.

[START] cerebrospinal fluid leak, spontaneous (cerebrospinal fluid leak) [END]

0

[START] adrvcl [END] (or hereditary vascular retinopathy) refers to the same concept.

[START] hvr (retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations) (retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations) [END]

1

[START] ectodermal dysplasia 3, tooth/nail type [END] is synonymous with witkop syndrome.

[START] ectodermal dysplasia, 'pure' hair/nail type (ectodermal dysplasia 4, hair/nail type) [END]

0

[START] rare odontologic disease [END] is localized to the dentition.

[START] rare systemic disease (systemic disease) [END]

0

[START] carrion's disease [END] refers to carrión disease.

[START] deerfly fever (tularemia) [END]

0

Referring to [START] distal trisomy type 22q [END], congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.

[START] distal duplication 22q (distal trisomy 22q) [END]

1

Medical literature refers to [START] triphalangeal thumbs and dislocation of patella [END] as a form of syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy.

[START] polydactyly of triphalangeal thumb (polydactyly of a triphalangeal thumb) [END]

0

[START] placenta increta [END] is also known as placenta accreta.

[START] malignant placenta tumor (placenta cancer) [END]

0

[START] thymoma, type c [END] is an alternative name for thymoma, type c (morphologic abnormality).

[START] polygonal cell thymoma (cortical thymoma) [END]

0

Referring to [START] hydrocephalus, skeletal anomalies, and mental disturbance [END], other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.

[START] waardenburg-shah syndrome (waardenburg syndrome type 4a) (Waardenburg syndrome type 4A) [END]

0

In ontology terms, [START] hhrrd [END] is a child of the broader category Mendelian disease.

[START] hypoparathyroidism-retardation-dysmorphism syndrome; hrd (hypoparathyroidism-retardation-dysmorphism syndrome) [END]

0

The terms [START] glycogenosis type 0a [END] and glycogen storage disease due to hepatic glycogen synthase deficiency are often used interchangeably in the literature.

[START] liver glycogen phosphorylase deficiency (glycogen storage disease VI) [END]

0

[START] congenital bile acid synthesis defect caused by mutation in hsd3b7 [END] is an alternative name for congenital bile acid synthesis defect type 1.

[START] congenital short bowel syndrome 1 (congenital short bowel syndrome 1) [END]

0

[START] tumor of the nervous system (nervous system neoplasm) [END] is also known as nervous system tumor.

[START] neoplasm of nervous system (nervous system neoplasm) (nervous system neoplasm) [END]

1

[START] high risk non proliferative diabetic retinopathy [END] refers to high risk non proliferative diabetic retinopathy.

[START] severe npdr (severe nonproliferative diabetic retinopathy) [END]

1

[START] neuroendocrine neoplasm of the colon (neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor) [END] is synonymous with colonic net.

[START] colonic net (neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor) [END]

1

[START] eosinophilic granulomatous vasculitides [END] is included in a broader group of conditions known as syndromic disease.

[START] granulomatous angiitis, allergic (eosinophilic granulomatosis with polyangiitis) [END]

1

[START] csnb, complete, autosomal recessive [END] is synonymous with csnb, complete, autosomal recessive.

[START] night blindness, congenital stationary, autosomal dominant type 2 (congenital stationary night blindness autosomal dominant 2) [END]

0

[START] malignant eccrine spiradenoma (morphologic abnormality) [END] usually grows in the upper extremities, lower extremities, trunk, and head and neck.

[START] carcinoma, eccrine gland, malignant (eccrine carcinoma) [END]

0

[START] neoplasm of rathke's pouch [END] can be grouped under a broader class, disease of facial skeleton.

[START] craniopharyngeal duct tumor (craniopharyngioma) [END]

1

[START] familial hyperaldosteronism type iii [END] refers to familial hyperaldosteronism type iii.

[START] adrenal hyperplasia hypertensive form (congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency) [END]

0

[START] isolated glycerol kinase deficiency [END] refers to nonsyndromic glycerol kinase deficiency.

[START] glycogen storage disease due to phosphoglycerate kinase 1 deficiency (glycogen storage disease due to phosphoglycerate kinase 1 deficiency) [END]

0

[START] hyperprolinemia type 2 [END] (or aldh4a1 hyperprolinemia) refers to the same concept.

[START] hprt deficiency, partial (hypoxanthine guanine phosphoribosyltransferase partial deficiency) [END]

0

[START] ibd24 [END] is synonymous with inflammatory bowel disease 24.

[START] inflammatory bowel disease 19; ibd19 (inflammatory bowel disease 19) [END]

0

[START] gibraltar fever [END] is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals.

[START] yellow fever (yellow fever) [END]

0

[START] agammaglobulinemia 6, autosomal recessive; agm6 [END] refers to agammaglobulinemia, autosomal recessive, due to cd79b defect.

[START] bruton's type agammaglobulinemia (Bruton-type agammaglobulinemia) [END]

0

The terms [START] arih (autosomal recessive congenital ichthyosis 11) [END] and ichthyosis-hypotrichosis syndrome are often used interchangeably in the literature.

[START] ifah syndrome (autosomal recessive congenital ichthyosis 11) [END]

1

The concept [START] mental retardation, autosomal recessive type 50 [END] is commonly categorized under autosomal recessive non-syndromic intellectual disability.

[START] mental retardation, autosomal recessive 50; mrt50 (intellectual disability, autosomal recessive 50) [END]

1

[START] mental retardation, autosomal dominant type 41 [END] is part of the broader category of autosomal dominant non-syndromic intellectual disability.

[START] autosomal dominant non-syndromic intellectual disability 40 (intellectual disability, autosomal dominant 40) [END]

0

[START] otulin-related autoinflammatory syndrome [END] has basis in dysfunction of OTULIN

[START] arias syndrome (Crigler-Najjar syndrome type 2) [END]

0

[START] upd(21)pat [END] is an alternative name for upd(21)pat.

[START] postaxial polydactyly type a (postaxial polydactyly type A (disease)) [END]

0

[START] choriocarcinoma of the adult cns [END] (or adult choriocarcinoma of the central nervous system) refers to the same concept.

[START] choriocarcinoma of the pediatric cns (pediatric CNS choriocarcinoma) [END]

0