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Ontology Browser

Term:
rhizomelic chondrodysplasia punctata type 1 (DOID:0110851)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
rhizomelic chondrodysplasia punctata type 1  
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. (DO)
rhizomelic chondrodysplasia punctata type 2  
rhizomelic chondrodysplasia punctata type 3  
rhizomelic chondrodysplasia punctata type 5  

Synonyms
Exact Synonyms: CDPR ;   Chondrodystrophia calcificans punctata ;   PBD9 ;   PEROXISOME BIOGENESIS DISORDER 9 ;   RCDP1
Primary IDs: MESH:C531651
Alternate IDs: OMIM:215100 ;   RDO:0000077
Xrefs: GARD:6049 ;   ORDO:309789
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15679822 "DO"

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