Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Abnormal chorioretinal morphology	HP_0000532	[An abnormality of the choroid and retina.]
Kniest dysplasia	DOID_0080045	[An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.]
Stickler syndrome	DOID_0080046
pseudoachondroplasia	DOID_0080047	[An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.]
obsolete trichorhinophalangeal syndrome I	DOID_0080048
obsolete neoplasm of body of uterus	DOID_5070
obsolete meninges gliomatosis	DOID_5072
obsolete central nervous system soft tissue neoplasm	DOID_5071
basosquamous carcinoma	DOID_5063
phencyclidine abuse	DOID_5062	[A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.]
obsolete Trichomonas urethritis	DOID_11418	[A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination.]
obsolete uterine corpus soft tissue neoplasm	DOID_5069
hypochondroplasia	DOID_0080041	[An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.]
autosomal recessive spinocerebellar ataxia 18	DOID_0080042
achondrogenesis	DOID_0080043	[An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.]
Narrow chest	HP_0000774	[Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.]
hypochondrogenesis	DOID_0080044	[An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.]
Hydrops fetalis	HP_0001789	[The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.]
Leptotrombidium deliense	NCBITaxon_299467
Leptotrombidium	NCBITaxon_279271