Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
familial partial lipodystrophy type 4	DOID_0070205	[A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26.]
familial partial lipodystrophy type 2	DOID_0070202	[A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.]
familial partial lipodystrophy type 5	DOID_0070203	[A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25.]
Miyoshi muscular dystrophy 2	DOID_0070200	[A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10.]
hypopituitarism	DOID_9406	[A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.]
Miyoshi muscular dystrophy 3	DOID_0070201	[A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.]
autosomal dominant keratitis-ichthyosis-deafness syndrome	DOID_0060871	[A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.]
hereditary lymphedema IC	DOID_0070208	[A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.]
hereditary lymphedema	DOID_0050580	[A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.]
hereditary lymphedema ID	DOID_0070209	[A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34.]
late-onset retinal degeneration	DOID_0060869	[A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.]
head swelling	SYMP_0000507
throat pain	SYMP_0000505	[Throat pain is a pain that is characterized by a painful throat due to inflammation of the fauces and pharynx.]
hemorrhage from throat	SYMP_0000506
adult failure to thrive	SYMP_0000503
left lower quadrant abdominal swelling	SYMP_0000501
mixed incontinence (female) (male)	SYMP_0000502
microphthalmia with limb anomalies	DOID_0060861	[A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.]
hereditary lymphedema IA	DOID_0070210	[A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35.]
mal de Meleda	DOID_0060862	[A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.]