Search Ontology:
Human Disease
rhizomelic chondrodysplasia punctata type 1
- Term ID
- DOID:0110851
- Synonyms
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- PBD9
- Peroxisome Biogenesis Disorder 9
- RCDP1
- Definition
- 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. https://www.ncbi.nlm.nih.gov/pubmed/15679822
- References
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- GARD:6049
- ICD10CM:Q77.3
- MIM:215100
- ORDO:309789
- Ontology
- Human Disease ( DOID:0110851 )
- is a type of
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Genes Involved
Zebrafish Models