Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
ectodermal dysplasia 8	DOID_0111661	[An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.]
Leber congenital amaurosis 13	DOID_0110330	[A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.]
osteogenesis imperfecta type 7	DOID_0110337	[An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22.]
Kohlschutter-Tonz syndrome	DOID_0111668	[A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.]
hyaline fibromatosis syndrome	DOID_0111669	[A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21.]
osteogenesis imperfecta type 17	DOID_0110338	[An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33.]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	DOID_0111666	[A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3.]
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	DOID_0110335	[An osteogenesis imperfecta found in a single South African family.]
osteogenesis imperfecta type 8	DOID_0110336	[An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.]
enterokinase deficiency	DOID_0111667	[An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1.]
Leber congenital amaurosis 7	DOID_0110333	[A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13.]
ectodermal dysplasia 1	DOID_0111664	[A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.]
osteogenesis imperfecta type 1	DOID_0110334	[An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.]
ectodermal dysplasia 10B	DOID_0111665	[A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13.]
ectodermal dysplasia 14	DOID_0111662	[An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in TSPEAR on chromosome 21q22.3.]
Leber congenital amaurosis 3	DOID_0110331	[A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31.]
X-linked ichthyosis	DOID_1700	[An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.]
pulmonary adenocarcinoma in situ	DOID_0050870	[A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.]
large cell neuroendocrine carcinoma	DOID_0050872	[A lung large cell carcinoma that derives_from neuroendocrine cells.]
fibroma	DOID_0050871	[A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.]