Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
leukodystrophy	DOID_10579	[A cerebral degeneration characterized by dysfunction of the white matter of the brain.]
autosomal dominant cutis laxa 1	DOID_0070130	[An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.]
autosomal dominant cutis laxa 3	DOID_0070131	[An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.]
hypomyelinating leukodystrophy 2	DOID_0060787	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.]
hypomyelinating leukodystrophy 10	DOID_0060788	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.]
hypomyelinating leukodystrophy 4	DOID_0060789	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.]
autosomal recessive cutis laxa type IIIB	DOID_0070138	[An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.]
autosomal recessive cutis laxa type IC	DOID_0070139	[A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.]
autosomal dominant cutis laxa 2	DOID_0070136	[An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.]
congenital diarrhea 6	DOID_0060780	[A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12.]
congenital diarrhea	DOID_0060774	[A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.]
autosomal recessive cutis laxa type IIB	DOID_0070137	[A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.]
congenital secretory sodium diarrhea 3	DOID_0060781	[A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.]
secretory diarrhea	DOID_0050129	[Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.]
autosomal recessive cutis laxa type IIA	DOID_0070134	[An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.]
autosomal recessive cutis laxa type IA	DOID_0070135	[An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.]
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	DOID_0060783	[An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28.]
Bowel incontinence	HP_0002607	[Involuntary fecal soiling in adults and children who have usually already been toilet trained.]
Abnormal large intestine physiology	HP_0012700	[A functional anomaly of the large intestine.]
Impaired continence	HP_0031064	[Partial or total incontinence of bowel or bladder.]