Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
schizophrenia 2	DOID_0070078	[A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.]
obsolete Kleefstra Syndrome	DOID_0070075	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.]
obsolete Koolen-De Vries syndrome	DOID_0070076	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31.]
autosomal dominant non-syndromic intellectual disability 43	DOID_0070073	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of HIVEP2 on chromosome 6q24.2.]
Hyperostosis	HP_0100774	[Excessive growth or abnormal thickening of bone tissue.]
Abnormality of skeletal morphology	HP_0011842	[An abnormality of the form, structure, or size of the skeletal system.]
autosomal dominant non-syndromic intellectual disability 44	DOID_0070074	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TRIO on chromosome 5p15.2.]
autosomal dominant non-syndromic intellectual disability 41	DOID_0070071	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TBL1XR1 on chromosome 3q26.32.]
autosomal dominant non-syndromic intellectual disability 42	DOID_0070072	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GNB1 on chromosome 1p36.33.]
schizophrenia 3	DOID_0070079	[A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD3 on chromosome 6p23.]
susceptibility to leprosy 5	OMIM_613223
leprosy	DOID_1024	[A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.]
Trombiculoidea	NCBITaxon_92088
Parasitengona	NCBITaxon_83141
Coffin-Siris syndrome 2	DOID_0070044	[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11.]
Coffin-Siris syndrome	DOID_1925	[An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.]
Coffin-Siris syndrome 3	DOID_0070045	[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.]
Coffin-Siris syndrome 1	DOID_0070042	[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3.]
autosomal dominant non-syndromic intellectual disability 13	DOID_0070043	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31.]
two_thiouridine	SO_0001349	[2_thiouridine is a modified uridine base feature.]