Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete pediatric synovial sarcoma	DOID_5491
epithelioid cell synovial sarcoma	DOID_5494
obsolete recurrent synovial sarcoma	DOID_5493
obsolete regional neuroblastoma	DOID_4165
obsolete nonmetastatic synovial sarcoma	DOID_5496
cerebral neuroblastoma	DOID_4164	[A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.]
monophasic synovial sarcoma	DOID_5495
Firstpapillomavirinae	NCBITaxon_2169595
Papillomaviridae	NCBITaxon_151340
obsolete Hepadnaviridae infectious disease	DOID_5497	[A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses.]
early infantile epileptic encephalopathy 36	DOID_0080470	[An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.]
infantile or early childhood epileptic encephalopathy 2	DOID_0080471	[An electroclinical syndrome characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.]
infantile or early childhood epileptic encephalopathy 1	DOID_0080472	[An electroclinical syndrome characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.]
developmental delay and seizures with or without movement abnormalities	DOID_0080473	[A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.]
congenital disorder of glycosylation In	DOID_0080566	[A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21.]
congenital disorder of glycosylation type I	DOID_0050570	[A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.]
congenital disorder of glycosylation Ip	DOID_0080567	[A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.]
congenital disorder of glycosylation Iq	DOID_0080568	[A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.]
congenital disorder of glycosylation Ir	DOID_0080569	[A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.]
congenital disorder of glycosylation Ij	DOID_0080562	[A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.]