All terms in DOID

Label Id Description
neurodegeneration with brain iron accumulation 4 DOID_0110738 [A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.]
neurodegeneration with brain iron accumulation 2a DOID_0110735 [A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.]
neurodegeneration with brain iron accumulation 2b DOID_0110736 [A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.]
muscular dystrophy-dystroglycanopathy type B1 DOID_0050588 [A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.]
trichotillomania DOID_0050587 [An impulse control disorder that involves the uncontrollable plucking of ones hair.]
bone carcinoma DOID_2762 [A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.]
ethmoid sinus squamous cell carcinoma DOID_2763 [A squamous cell carcinoma that is located_in the ethmoid sinus.]
ethmoid sinus cancer DOID_1363
compartment syndrome DOID_682
ethmoid sinus adenoid cystic carcinoma DOID_2764
pyuria DOID_1439
ethmoid sinus adenocarcinoma DOID_2766 [An ethmoid sinus cancer that derives from epithelial cells of glandular origin.]
Hajdu-Cheney syndrome DOID_2736 [A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.]
obsolete agalactia DOID_1402
obsolete Witkop-Von Sallmann disease DOID_2737
pseudoxanthoma elasticum DOID_2738 [A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.]
Gilbert syndrome DOID_2739 [A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.]
hereditary spastic paraplegia 13 DOID_0110766 [A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33.]
hereditary spastic paraplegia 14 DOID_0110767 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28.]
hereditary spastic paraplegia 11 DOID_0110764 [A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.]