Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
congenital lactase deficiency	DOID_0111646	[A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.]
hypertrophic cardiomyopathy 9	DOID_0110315	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.]
Schopf-Schulz-Passarge syndrome	DOID_0111647	[An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35.]
hypertrophic cardiomyopathy 10	DOID_0110316	[A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene.]
acute gonococcal prostatitis	DOID_13943
obsolete gastrointestinal hemorrhage of fetus or newborn	DOID_12612
autosomal recessive nonsyndromic deafness 110	DOID_0111644	[An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in COCH on chromosome 14q12.]
hypertrophic cardiomyopathy 7	DOID_0110313	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.]
acute gonococcal salpingitis	DOID_13942
hypertrophic cardiomyopathy 8	DOID_0110314	[A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene.]
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	DOID_0111645	[An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.]
infancy electroclinical syndrome	DOID_0050703	[An electroclinical syndrome with onset in infancy occurring between birth and one year of age.]
benign paroxysmal positional nystagmus	DOID_13941
obsolete adrenal hemorrhage of fetus or newborn	DOID_12610
hypertrophic cardiomyopathy 21	DOID_0110311	[A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation.]
autosomal recessive nonsyndromic deafness 114	DOID_0111642	[An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in GRAP on chromosome 17p11.2.]
obsolete recurrent larynx cancer	DOID_7162
obsolete abnormality of forces of labor	DOID_8493
autosomal recessive nonsyndromic deafness 115	DOID_0111643	[An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in SPNS2 on chromosome 17p13.2.]
hypertrophic cardiomyopathy 6	DOID_0110312	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).]