Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
acquired color blindness	DOID_13912
autosomal recessive nonsyndromic deafness 57	DOID_0111635	[An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31.]
autosomal dominant limb-girdle muscular dystrophy type 2	DOID_0110304	[An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.]
autosomal dominant limb-girdle muscular dystrophy	DOID_0110273	[A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance.]
autosomal recessive nonsyndromic deafness 113	DOID_0111636	[An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in CEACAM16 on chromosome 19q13.]
autosomal dominant limb-girdle muscular dystrophy type 1	DOID_0110305	[An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.]
red color blindness	DOID_13910
obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	DOID_0110302
congenital sucrase-isomaltase deficiency	DOID_0111633	[A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.]
Galliformes	NCBITaxon_8976
autosomal dominant limb-girdle muscular dystrophy type 1H	DOID_0110303	[An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23.]
autosomal recessive nonsyndromic deafness 99	DOID_0111634	[An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in TMEM132E on chromosome 17q12.]
familial erythrocytosis 7	DOID_0111631	[A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either HBA2 or HBA1 on chromosome 16p13.3.]
obsolete autosomal dominant limb-girdle muscular dystrophy type 1A	DOID_0110300
cloacogenic carcinoma	DOID_7173
obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	DOID_0110301
familial erythrocytosis 6	DOID_0111632	[A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.]
obsolete recurrent non-cutaneous melanoma	DOID_7170
obsolete recurrent cutaneous melanoma	DOID_7171
familial erythrocytosis 8	DOID_0111630	[A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33.]