PEROXISOME BIOGENESIS DISORDER 1B

PBD1B

http://purl.bioontology.org/ontology/OMIM/601539

PBD1B

PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)

REFSUM DISEASE, INFANTILE

INFANTILE PHYTANIC ACID STORAGE DISEASE

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL

PEROXISOME BIOGENESIS DISORDER (NALD/IRD)

C0282527

7q21-q22

PBD1B

PEX1

PBD1A

HMLR1

ZWS1

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU002081

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU057148

http://purl.bioontology.org/ontology/OMIM/MTHU000581

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU038541

http://purl.bioontology.org/ontology/OMIM/MTHU037739

http://purl.bioontology.org/ontology/OMIM/MTHU057149

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU057150

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

http://purl.bioontology.org/ontology/OMIM/MTHU057151

http://purl.bioontology.org/ontology/OMIM/MTHU033938

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

http://purl.bioontology.org/ontology/OMIM/MTHU000094

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

Phenotype description, molecular basis known.

601539

3

pound

PEROXISOME BIOGENESIS DISORDER 1B

Disorder is progressive in some patients [MISCELLANEOUS]

Caused by mutation in the peroxisome biogenesis factor 1 gene (PEX1, 602136.0001) [MOLECULAR BASIS]

Survival into adulthood [MISCELLANEOUS]

T047