All terms in DOID

Label Id Description
obsolete Mild hyperemesis gravidarum DOID_1832
megalocornea DOID_0060305 [A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.]
dyschromatosis universalis hereditaria DOID_0060304 [A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.]
spinocerebellar ataxia 31 DOID_0050980 [An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene.]
complement component 9 deficiency DOID_0060303 [A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene.]
melon food product FOODON_00002029
type II complement component 8 deficiency DOID_0060302 [A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.]
spinocerebellar ataxia 35 DOID_0050982 [An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene.]
type I complement component 8 deficiency DOID_0060301 [A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.]
spinocerebellar ataxia 34 DOID_0050981 [An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.]
complement component 7 deficiency DOID_0060300 [A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene.]
hepatobiliary system UBERON_0002423
basal ganglion UBERON_0002420
integumental system UBERON_0002416
spinocerebellar ataxia 37 DOID_0050984 [An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene.]
spinocerebellar ataxia 36 DOID_0050983 [An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene.]
spinocerebellar ataxia 40 DOID_0050986 [An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.]
Menkes disease DOID_1838
spinocerebellar ataxia 38 DOID_0050985 [An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.]
diabetic ketoacidosis DOID_1837 [A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.]