Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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
patterned macular dystrophy 3	DOID_0060865	[A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.]
patterned macular dystrophy 1	DOID_0060866	[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 PRPH2 gene on chromosome 6p21.]
macrocephaly-autism syndrome	DOID_0060867	[A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.]
flatulence	SYMP_0000509
Ophiostomataceae	NCBITaxon_5152
leukoencephalopathy with vanishing white matter	DOID_0060868	[A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27.]
familial hyperinsulinemic hypoglycemia 6	DOID_0070217	[A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.]
familial hyperinsulinemic hypoglycemia 2	DOID_0070218	[A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.]
familial hyperinsulinemic hypoglycemia 4	DOID_0070215	[A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.]
Tabanoidea	NCBITaxon_1262365
Tabanomorpha	NCBITaxon_43735
familial hyperinsulinemic hypoglycemia 3	DOID_0070216	[A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.]
hereditary lymphedema II	DOID_0070213	[A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.]
familial hyperinsulinemic hypoglycemia 7	DOID_0070214	[A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.]
hereditary lymphedema IB	DOID_0070211	[A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1.]
hereditary lymphedema I	DOID_0070212	[A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.]