Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete recurrent adult primary liver cancer	DOID_7084
obsolete recurrent adult primary hepatoma	DOID_7083
malignant melanocytic peripheral nerve sheath tumor of mediastinum	DOID_7077
obsolete malignant mediastinal peripheral nerve sheath tumor	DOID_7078
obsolete atypical vulvar nevus	DOID_7075
lipid-rich breast carcinoma	DOID_7076	[A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.]
adult cystic teratoma	DOID_7079	[A cystic teratoma that is present in an adult.]
cystic teratoma	DOID_2660	[A benign teratoma that is characterized by the presence of cysts or cystic spaces.]
seminal vesicle acute gonorrhea	DOID_0050004	[A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection.]
obsolete cutaneous strongyloidiasis	DOID_0050007	[A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas.]
obsolete intestinal strongyloidiasis	DOID_0050009	[A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis.]
metatropic dysplasia	DOID_0111514	[A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.]
quinolines	CHEBI_26513	[A class of aromatic heterocyclic compounds each of which contains a benzene ring ortho fused to carbons 2 and 3 of a pyridine ring.]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2	DOID_0111515	[A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3.]
metachondromatosis	DOID_0111512	[An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13.]
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	DOID_0111513	[An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of RUNX2 on chromosome 6p21.1.]
obsolete recurrent endometrial cancer	DOID_8382
esophageal basaloid squamous cell carcinoma	DOID_7051
Marshall syndrome	DOID_0111510	[An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome.]
melanoma and neural system tumor syndrome	DOID_0111511	[A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in CDKN2A on chromosome 9p21.3.]