JSON

peroxisome biogenesis disorder 1B

^ http://purl.obolibrary.org/obo/MONDO_0011101

Term info

database cross reference
  • Orphanet:44 (OMIM:601539)
  • UMLS:CN168921 (MONDO:ncbi_mim2gene_medline)
  • DOID:0081240 (MONDO:equivalentTo)
  • UMLS:C0282527 (OMIM:601539)
  • Orphanet:772 (OMIM:601539)
  • OMIM:601539 (MONDO:equivalentTo)
  • NCIT:C155749 (MONDO:equivalentTo)
abbreviation
PBD1B [ OMIM:601539 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632, https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/601539, http://linkedlifedata.com/resource/umls/id/CN168921, http://purl.obolibrary.org/obo/DOID_0081240, http://purl.obolibrary.org/obo/NCIT_C155749

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019234

has exact synonym

peroxisome biogenesis disorder 1B (NALD/IRD), peroxisome biogenesis disorder type 1B, peroxisome biogenesis disorder 1B

has related synonym

peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease), PBD1B, adrenoleukodystrophy, autosomal neonatal, peroxisome biogenesis disorder (NALD/Ird), Refsum disease, infantile, infantile phytanic acid storage disease

id

MONDO:0011101