Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hereditary spastic paraplegia 51	DOID_0110803	[A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.]
hereditary spastic paraplegia 52	DOID_0110804	[A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.]
hereditary spastic paraplegia 49	DOID_0110801	[A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32.]
hereditary spastic paraplegia 50	DOID_0110802	[A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.]
supravalvular aortic stenosis	DOID_1929	[An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.]
Baller-Gerold syndrome	DOID_0050654	[A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.]
Williams-Beuren syndrome	DOID_1928
obsolete dysplastic nevus	DOID_0050653
pseudo-TORCH syndrome 1	DOID_0050656	[A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2.]
Bamforth-Lazarus syndrome	DOID_0050655	[A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.]
Bart-Pumphrey syndrome	DOID_0050658	[A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.]
Bannayan-Riley-Ruvalcaba syndrome	DOID_0050657	[A syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.]
hereditary spastic paraplegia 57	DOID_0110809	[A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12.]
obsolete endocrine syndrome	DOID_1922
biotin-responsive basal ganglia disease	DOID_0050659	[A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.]
Klinefelter's syndrome	DOID_1921
acyl group	CHEBI_22221	[An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids.]
Laurence-Moon syndrome	DOID_1930	[A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2.]
Rh deficiency syndrome	DOID_0050641	[A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12.]
anauxetic dysplasia 1	DOID_0050640	[A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.]