PEROXISOME BIOGENESIS DISORDER 3B

PBD3B

http://purl.bioontology.org/ontology/OMIM/266510

PBD3B

C3550693

17q12

PBD3A

PEX12

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

http://purl.bioontology.org/ontology/OMIM/MTHU009718

http://purl.bioontology.org/ontology/OMIM/MTHU032573

http://purl.bioontology.org/ontology/OMIM/MTHU032577

http://purl.bioontology.org/ontology/OMIM/MTHU032575

http://purl.bioontology.org/ontology/OMIM/MTHU009720

http://purl.bioontology.org/ontology/OMIM/MTHU000081

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

http://purl.bioontology.org/ontology/OMIM/MTHU032579

http://purl.bioontology.org/ontology/OMIM/MTHU002680

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

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU032574

http://purl.bioontology.org/ontology/OMIM/MTHU003282

http://purl.bioontology.org/ontology/OMIM/MTHU009719

http://purl.bioontology.org/ontology/OMIM/MTHU009711

http://purl.bioontology.org/ontology/OMIM/MTHU032578

http://purl.bioontology.org/ontology/OMIM/MTHU032576

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU001998

http://purl.bioontology.org/ontology/OMIM/MTHU000322

http://purl.bioontology.org/ontology/OMIM/MTHU032580

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

266510

3

pound

PEROXISOME BIOGENESIS DISORDER 3B

Caused by mutation in the peroxisome biogenesis factor-2 gene (PEX2, 170993.0002) [MOLECULAR BASIS]

Prenatal onset [MISCELLANEOUS]

T047