Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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/MTHU027825

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/MTHU013880

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
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110851 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C531651 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C531651 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.540 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D018902 Medical Subject Headings CUI