All terms in DOID

Label Id Description
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 [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 [A nutrition, metabolism, and development symptom that is characterized by a physical decline in health seen in older adults – typically those with multiple chronic medical conditions – resulting in decreased appetite and poor nutrition, weight loss, inactivity, often accompanied by dehydration, depression, decreasing functional ability, and impaired immune function.]
left lower quadrant abdominal swelling SYMP_0000501
mixed incontinence (female) (male) SYMP_0000502 [A urinary incontinence that is characterized by urine leakage when you sneeze, cough, laugh, do jarring exercise, or lift something heavy. It is typically a combination of stress and urge incontinence.]
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.]
patterned macular dystrophy DOID_0060863 [A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.]
patterned macular dystrophy 2 DOID_0060864 [A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.]
Ophiostomatales NCBITaxon_5151
Sordariomycetidae NCBITaxon_222544