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DO Term : rhizomelic chondrodysplasia punctata type 1 [DOID:0110851] 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 PEX7 gene on chromosome 6q23.3.

synonyms:
RCDP1,
ICD10CM:Q77.3,
PBD9,
215100,
OMIM:215100,
GARD:6049,
Peroxisome Biogenesis Disorder 9,
ORDO:309789

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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