All terms in DOID

Label Id Description
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.]
myeloid neoplasm DOID_0070004 [A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.]
bone marrow cancer DOID_4960 [A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.]
cerebral cavernous malformation 2 DOID_0060670 [A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13.]
cerebral cavernous malformation DOID_0060669 [A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.]
epiphysis UBERON_0001437
zone of long bone UBERON_0005055
Seckel syndrome 9 DOID_0070005 [A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21.]
cerebral cavernous malformation 3 DOID_0060671 [A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1.]
metaphysis UBERON_0001438
3-methylglutaconic aciduria type 9 DOID_0070002 [A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13.]
frontotemporal dementia 2 DOID_0060672 [A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.]
frontotemporal dementia DOID_9255 [A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.]