Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
achalasia microcephaly syndrome	DOID_0050796	[A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).]
hemangioma of lung	DOID_490
obsolete mycosis fungoides involving intra-abdominal lymph nodes	DOID_9109
guanidinoacetate methyltransferase deficiency	DOID_0050799	[A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.]
cerebral creatine deficiency syndrome	DOID_0050798	[An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.]
sclerosing hemangioma	DOID_495
acquired hemangioma	DOID_492
Opitz-GBBB syndrome	DOID_0050780	[A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.]
Zollinger-Ellison syndrome	DOID_0050782	[A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.]
Ogden syndrome	DOID_0050781	[A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.]
primary progressive multiple sclerosis	DOID_0050784	[A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.]
neuroectodermal tumor	DOID_171
secondary progressive multiple sclerosis	DOID_0050783	[A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.]
cartilage cancer	DOID_0060102	[A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.]
gene_silenced_by_DNA_methylation	SO_0000129	[A gene that is silenced by DNA methylation.]
gene_silenced_by_DNA_modification	SO_0000128	[A gene that is silenced by DNA modification.]
insulator_binding_site	SO_0001460	[A binding site that, in an insulator region of a nucleotide molecule, interacts selectively and non-covalently with polypeptide residues.]
contig_collection	SO_0001462	[A collection of contigs.]
transcriptionally_regulated	SO_0000123	[An attribute describing a gene that is regulated at transcription.]
lincRNA	SO_0001463	[Long, intervening non-coding RNA. A transcript that does not overlap within the start or end genomic coordinates of a coding gene or pseudogene on either strand.]