All terms in DOID

Label Id Description
spondylocostal dysostosis 1 DOID_0112365 [A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.]
spondylocostal dysostosis DOID_0050568 [A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.]
spondylocostal dysostosis 4 DOID_0112364 [A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.]
hemochromatosis type 2 DOID_0111034 [A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.]
spondylocostal dysostosis 5 DOID_0112363 [A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2.]
hemochromatosis type 5 DOID_0111031 [A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12.]
hemochromatosis type 2B DOID_0111032 [A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.]
spondylocostal dysostosis 2 DOID_0112362 [A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1.]
glioma susceptibility 2 MIM_613028
spondylocostal dysostosis 3 DOID_0112361 [A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3.]
glioma susceptibility 3 MIM_613029
hemochromatosis type 3 DOID_0111030 [A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.]
spondylocostal dysostosis 6 DOID_0112360 [A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2.]
exocrine pancreatic insufficiency DOID_13316 [A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.]
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase DOID_0111039 [A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.]
hypermethioninemia DOID_0050544 [An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.]
obsolete relapsing pancreatitis DOID_13315
Coffin-Siris syndrome 7 DOID_0112369 [A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1.]
glycine N-methyltransferase deficiency DOID_0111037 [A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.]
pancreatic mucinous ductal ectasia DOID_13313