All terms in DOID

Label Id Description
obsolete dilated cardiomyopathy 3B DOID_0081164 [A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21.]
dilated cardiomyopathy 2D DOID_0081160 [A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.]
dilated cardiomyopathy 2E DOID_0081161 [A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.]
dilated cardiomyopathy 2F DOID_0081162 [A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32.]
agammaglobulinemia 6 DOID_0081138 [An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23.]
agammaglobulinemia DOID_2583 [A B cell deficiency that is caused by a reduction in all types of gamma globulins.]
agammaglobulinemia 7 DOID_0081139 [An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13.]
3-methylglutaconic aciduria type 7b DOID_0081134 [A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia DOID_0110003 [A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.]
agammaglobulinemia 2 DOID_0081135 [An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11.]
agammaglobulinemia 1 DOID_0081136 [An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.]
agammaglobulinemia 3 DOID_0081137 [An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2.]
Legius syndrome DOID_0070484 [A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.]
mitochondrial complex IV deficiency nuclear type 23 DOID_0070485 [A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.]
spinal neurofibromatosis DOID_0070482 [A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots.]
neurofibromatosis 1 DOID_0111253 [A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.]
Watson syndrome DOID_0070483 [A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.]
schwannomatosis 1 DOID_0070480 [A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.]
Decapoda NCBITaxon_6683
schwannomatosis 2 DOID_0070481 [A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.]