All terms in DOID

Label Id Description
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 [A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.]
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.]
Spasticity HP_0001257
Upper motor neuron dysfunction HP_0002493
Abnormal muscle tone HP_0003808
developmental and epileptic encephalopathy 9 DOID_0060848 [A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.]
developmental and epileptic encephalopathy DOID_0112202 [An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.]
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.]
Encephalitozoon intestinalis NCBITaxon_58839
Encephalitozoon NCBITaxon_6033
isolated microphthalmia 1 DOID_0060840 [An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32.]
isolated microphthalmia 8 DOID_0060841 [An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.]