Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PEROXISOME BIOGENESIS FACTOR 7

Synonyms

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1

ID

http://purl.bioontology.org/ontology/OMIM/601757

altLabel

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1

PEROXISOME BIOGENESIS DISORDER 9B

PEROXISOMAL PTS2 RECEPTOR

PEROXIN 7

PEX7

cui

C1859133

C1418479

C2749346

Gene Locus

6q23.3

Gene Symbol

PBD9B

PEX7

RCDP1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601757.0007

http://purl.bioontology.org/ontology/OMIM/601757.0010

http://purl.bioontology.org/ontology/OMIM/601757.0003

http://purl.bioontology.org/ontology/OMIM/601757.0002

http://purl.bioontology.org/ontology/OMIM/601757.0004

http://purl.bioontology.org/ontology/OMIM/601757.0011

http://purl.bioontology.org/ontology/OMIM/601757.0009

http://purl.bioontology.org/ontology/OMIM/601757.0001

http://purl.bioontology.org/ontology/OMIM/601757.0005

http://purl.bioontology.org/ontology/OMIM/601757.0008

http://purl.bioontology.org/ontology/OMIM/601757.0006

MIMTYPEMEANING

Gene with known sequence

notation

601757

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PEROXISOME BIOGENESIS FACTOR 7

tui

T028

T047

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http://purl.bioontology.org/ontology/MESH/C567603 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP208426-9 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C531651 Medical Subject Headings CUI