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DO Term : rhizomelic chondrodysplasia punctata type 5 [DOID:0110854] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
  • synonyms:
  • RCDP5,
  • ORDO:468717,
  • 616716,
  • OMIM:616716
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Disease

Diseases --> Human genes

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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