FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term rhizomelic chondrodysplasia punctata type 1 ID (Ontology) DOID:0110851 (Human Disease)
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.
Also Known As "PBD9" ; "Peroxisome Biogenesis Disorder 9" ; "RCDP1"
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 Genes
 rhizomelic chondrodysplasia punctata type 1       1
 for disease ribbon | rhizomelic chondrodysplasia punctata type 1       1
 model of | rhizomelic chondrodysplasia punctata type 1       1
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autosomal recessive disease__
chondrodysplasia punctata____|
                             rhizomelic chondrodysplasia punctata
                              |__rhizomelic chondrodysplasia punctata type 1  1 rec.
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Is a rhizomelic chondrodysplasia punctata
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Synonyms
  • "PBD9" EXACT OMO:0003012
    "Peroxisome Biogenesis Disorder 9" EXACT
    "RCDP1" EXACT OMO:0003012
Secondary IDs
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GARD:6049
ICD10CM:Q77.3
MIM:215100
ORDO:309789