All terms in DOID

Label Id Description
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
mixed endoderm/mesoderm-derived structure UBERON_0000077
catecholaminergic polymorphic ventricular tachycardia 5 DOID_0060679 [A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.]
olfactory sulcus UBERON_0002772
sulcus of brain UBERON_0013118
Seckel syndrome 10 DOID_0070008 [A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.]
Seckel syndrome DOID_0050569 [A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.]
Seckel syndrome 8 DOID_0070009 [A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21.]
Seckel syndrome 6 DOID_0070006 [A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22.]
Seckel syndrome 1 DOID_0070007 [A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.]