Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
age related macular degeneration 8	DOID_0110020	[An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26.]
alpha thalassemia-intellectual disability syndrome type 1	DOID_0110029	[An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.]
age related macular degeneration 15	DOID_0110027	[An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.]
Floating-Harbor syndrome	DOID_0111358	[A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2.]
large congenital melanocytic nevus	DOID_0111359	[A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in NRAS on chromosome 11p15.5.]
age related macular degeneration 5	DOID_0110028	[An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.]
hydrolethalus syndrome 2	DOID_0111356	[A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KIF7 on chromosome 15q26.1.]
hydrolethalus syndrome	DOID_0050779	[A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.]
age related macular degeneration 13	DOID_0110025	[An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.]
adermatoglyphia	DOID_0111357	[A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in SMARCAD1 on chromosome 4q22.3.]
age related macular degeneration 14	DOID_0110026	[An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.]
hepatocyte	CL_0000182
metabolising cell	CL_0000181
endopolyploid cell	CL_0000417
age related macular degeneration 11	DOID_0110023	[An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.]
arthrogryposis, renal dysfunction, and cholestasis 2	DOID_0111354	[An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.]
age related macular degeneration 12	DOID_0110024	[An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.]
hydrolethalus syndrome 1	DOID_0111355	[A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in HYLS1 on chromosome 11q24.2.]
susceptibility to partial acquired lipodystrophy	OMIM_608709
achromatopsia 4	DOID_0110010	[An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.]