| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. (Human Disease Ontology, DOID_2580) |
| External Link | https://www.disgenet.org/browser/0/1/0/C1838612 |
| Similar Terms | |
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6 genes associated with the disease Rhizomelic Chondrodysplasia Punctata in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
