Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
conventional dendritic cell	CL_0000990
dendritic cell	CL_0000451
Burkholderia mallei	NCBITaxon_13373
pseudomallei group	NCBITaxon_111527
agammaglobulinemia 5	DOID_0080588	[An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34.]
agammaglobulinemia	DOID_2583	[A B cell deficiency that is caused by a reduction in all types of gamma globulins.]
Klippel-Feil syndrome 1	DOID_0080589	[A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.]
autosomal dominant Wolfram syndrome	DOID_0080584	[A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.]
Van Maldergem syndrome 1	DOID_0080585	[A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.]
Van Maldergem syndrome	DOID_0060238	[A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.]
Van Maldergem syndrome 2	DOID_0080586	[A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.]
visceral muscle cell	CL_0008007
muscle cell	CL_0000187
congenital myasthenic syndrome 22	DOID_0080587	[A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.]
non-striated muscle cell	CL_0008000
nodular basal cell carcinoma	DOID_4280	[A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.]
microsporidiosis	DOID_4271	[An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.]
Microsporidia	NCBITaxon_6029
encephalitozoonosis	DOID_4270	[A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.]
Encephalitozoon cuniculi	NCBITaxon_6035