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Preferred Name

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
Synonyms

CDPR
ID

http://purl.bioontology.org/ontology/OMIM/215100
altLabel

CDPR

PEROXISOME BIOGENESIS DISORDER 9

PBD9

CHONDRODYSTROPHIA CALCIFICANS PUNCTATA

CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM

RCDP1
cui

C1859133

C0282529
Gene Locus

6q23.3
Gene Symbol

PBD9B

PEX7

RCDP1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU013868

http://purl.bioontology.org/ontology/OMIM/MTHU002761

http://purl.bioontology.org/ontology/OMIM/MTHU013876

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU013872

http://purl.bioontology.org/ontology/OMIM/MTHU013878

http://purl.bioontology.org/ontology/OMIM/MTHU013870

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU013874

http://purl.bioontology.org/ontology/OMIM/MTHU009274

http://purl.bioontology.org/ontology/OMIM/MTHU011871

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU004502

http://purl.bioontology.org/ontology/OMIM/MTHU036917

http://purl.bioontology.org/ontology/OMIM/MTHU000730

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU013869

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU013875

http://purl.bioontology.org/ontology/OMIM/MTHU013873

http://purl.bioontology.org/ontology/OMIM/MTHU013871

http://purl.bioontology.org/ontology/OMIM/MTHU013877
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

215100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
Scope Statement

Majority of children die before age 2 [MISCELLANEOUS]

Caused by mutations in the peroxisomal biogenesis factor-7 gene (PEX7, 601757.0001) [MOLECULAR BASIS]
tui

T047
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