Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
cataract 11 multiple types	DOID_0110249	[A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.]
Gillespie syndrome	DOID_0111578	[A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1.]
cataract 36	DOID_0110247	[A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33.]
Abnormal lung morphology	HP_0002088	[Any structural anomaly of the lung.]
cataract 30	DOID_0110248	[A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13.]
asthma, nasal polyps, and aspirin intolerance	DOID_0111579	[A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.]
dehydrated hereditary stomatocytosis 1	DOID_0111576	[A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in PIEZO1 on chromosome 16q24.3.]
dehydrated hereditary stomatocytosis	DOID_0111575	[A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes.]
cataract 38	DOID_0110245	[A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.]
cataract 26 multiple types	DOID_0110246	[A cataract that has_material_basis_in variation in the region 9q13-q22.]
dehydrated hereditary stomatocytosis 2	DOID_0111577	[A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in KCNN4 on chromosome 19q13.31.]
autosomal recessive woolly hair 3	DOID_0111574	[A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2.]
cataract 46 juvenile-onset	DOID_0110243	[A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.]
cataract 28	DOID_0110244	[A cataract that has_material_basis_in variation in the region 6p12-q12.]
stiff skin syndrome	DOID_0111561	[A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1.]
cataract 34 multiple types	DOID_0110230	[A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.]
Sabethini	NCBITaxon_53549
cataract 1 multiple types	DOID_0110231	[A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.]
overhydrated hereditary stomatocytosis	DOID_0111562	[A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3.]
Charcot-Marie-Tooth disease type 1G	DOID_0111560	[A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13.]