Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
paratyphoid fever	DOID_3055	[A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.]
bradycardia	SYMP_0000231	[Bradycardia is a cardiovascular system symptom consisting of a relatively slow heart action whether physiological or pathological.]
obsolete recurrent peripheral primitive neuroectodermal tumor	DOID_4387
myofibroma	DOID_4386
connective tissue benign neoplasm	DOID_0060123	[A musculoskeletal system benign neoplasm that is located_in connective tissue.]
obsolete Paramyxoviridae infectious disease	DOID_3056	[A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses.]
soft tissue peripheral neuroepithelioma	DOID_4389
extraosseous Ewing sarcoma	DOID_4232	[A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.]
bone peripheral neuroepithelioma	DOID_4388
Zeiogadaria	NCBITaxon_1489841
Paracanthomorphacea	NCBITaxon_1489838
junctional epidermolysis bullosa Herlitz type	DOID_0060737	[A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.]
junctional epidermolysis bullosa non-Herlitz type	DOID_0060738	[A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.]
Gadariae	NCBITaxon_1489843
hand-foot-genital syndrome	DOID_0060739	[A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.]
Gadoidei	NCBITaxon_1489845
Gadiformes	NCBITaxon_8043
torsion dystonia 1	DOID_0060730	[A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.]
generalized dystonia	DOID_0050835	[A dystonia that affects most or all of the body.]
congenital central hypoventilation syndrome	DOID_0060731	[An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.]