Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
scleredema adultorum	DOID_3140	[A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.]
mucinoses	DOID_3141	[A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue.]
connective tissue disease	DOID_65	[A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.]
sarcomatoid renal cell carcinoma	DOID_4473
mucinous tubular and spindle renal cell carcinoma	DOID_4472
leg dermatosis	DOID_3142
obsolete eczematous skin disease	DOID_3143
hyperlipoproteinemia type III	DOID_3145	[A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.]
familial hyperlipidemia	DOID_1168
lipid metabolism disorder	DOID_3146	[An inherited metabolic disorder that involves the creation and degradation of lipids.]
renal tubular transport disease	DOID_447
obsolete drug-Induced dyskinesia	DOID_4478
dermal unilateral segmental cavernous angioma	DOID_3148
cavernous hemangioma	DOID_483
keratoacanthoma	DOID_3149
skin squamous cell carcinoma	DOID_3151	[A skin carcinoma that has_material_basis_in squamous cells.]
Leri-Weill dyschondrosteosis	DOID_0060847	[An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.]
early infantile epileptic encephalopathy 9	DOID_0060848	[An early infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.]
early infantile epileptic encephalopathy	DOID_0050709	[A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.]
osteoporosis-pseudoglioma syndrome	DOID_0060849	[A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.]