All terms in DOID

Label Id Description
alopecia, neurologic defects, and endocrinopathy syndrome DOID_0112244 [A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1.]
partial arterial retinal occlusion DOID_14522
retinal artery occlusion DOID_8483
congenital symmetric circumferential skin creases 2 DOID_0112243 [A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2.]
multiple benign circumferential skin creases on limbs DOID_0112241 [A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin.]
Argyll Robertson pupil DOID_14523 [An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response.]
congenital symmetric circumferential skin creases 1 DOID_0112242 [A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33.]
senile degeneration of brain DOID_14524
Reye syndrome DOID_14525 [A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.]
Leber congenital amaurosis with early-onset deafness DOID_0112240 [A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.]
mononuclear leukocyte CL_0000842
leukocyte CL_0000738
venous sinus UBERON_0006615
GAPO syndrome DOID_0112249 [A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3.]
17-beta hydroxysteroid dehydrogenase 3 deficiency DOID_0112248 [A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22.]
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder DOID_0112247 [A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1.]
glutaric acidemia type 3 DOID_0112246 [A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1.]
obsolete adenovirus gastroenteritis DOID_14520 [An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever.]
focal segmental glomerulosclerosis 3 DOID_0112245 [A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3.]
focal segmental glomerulosclerosis DOID_1312