Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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
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.]
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.]
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.]