Rhizomelic Chondrodysplasia Punctata Type 1
Disease ID: disease_node_19143
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| Dbxref | GARD:6049, ICD10CM:Q77.3, MIM:215100, ORDO:309789 |
|---|---|
| Subclassof | DOID_2580 |
| Data Source | DOID |
| Synonyms | PBD9, Peroxisome Biogenesis Disorder 9, RCDP1 |
| Doid Label | rhizomelic chondrodysplasia punctata type 1 |
| Doid Description | A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. |
| Disease Node Id | disease_node_19143 |
| Doid Id | DOID_0110851 |
| Label | Rhizomelic Chondrodysplasia Punctata Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Chondrodysplasia Punctata, Rhizomelic(ID:disease_node_9832) (Disease)