All terms in DOID

Label Id Description
autosomal dominant intellectual developmental disorder 8 DOID_0070038 [An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.]
autosomal dominant intellectual developmental disorder 5 DOID_0070035 [An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.]
autosomal dominant intellectual developmental disorder 6 DOID_0070036 [An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.]
susceptibility to celiac disease 2 MIM_609754
susceptibility to celiac disease 4 MIM_609753
susceptibility to celiac disease 3 MIM_609755
susceptibility to idiopathic generalized epilepsy 4 MIM_609750
3-methylglutaconic aciduria type 8 DOID_0070000 [A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.]
3-methylglutaconic aciduria DOID_0060336 [An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.]
catecholaminergic polymorphic ventricular tachycardia DOID_0060674 [A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.]
heart conduction disease DOID_10273 [A cardiovascular system disease that involves the heart's electrical conduction system.]
obsolete neoplastic disease DOID_0070001 [A disease of cellular proliferation that results in an abnormal mass of tissue.]
catecholaminergic polymorphic ventricular tachycardia 1 DOID_0060675 [A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.]
catecholaminergic polymorphic ventricular tachycardia 2 DOID_0060676 [A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.]
catecholaminergic polymorphic ventricular tachycardia 3 DOID_0060677 [A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14.]
catecholaminergic polymorphic ventricular tachycardia 4 DOID_0060678 [A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32.]
lung connective tissue UBERON_0000114
lower respiratory tract connective tissue UBERON_0003580
connective tissue UBERON_0002384
thoracic segment connective tissue UBERON_0003837