JSON

peroxisomal disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0019053

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia. [ NCIT:C85005 https://clinicalgenome.org/affiliation/40049/ ]

Synonyms: disorder of peroxisomal function peroxisomal function disorder peroxisomal disease peroxisomal disorder

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:238059005 (MONDO:equivalentTo)
  • DOID:906 (MONDO:equivalentTo)
  • ICD9:277.86 (MONDO:i2s)
  • Orphanet:68373 (MONDO:equivalentTo)
  • NCIT:C85005 (MONDO:equivalentTo)
  • ICD9:277.89 (MONDO:relatedTo)
  • UMLS:C0282528 (Orphanet:68373/e)
  • GARD:18885 (Orphanet:68373)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5786

exactMatch

http://linkedlifedata.com/resource/umls/id/C0282528

http://purl.obolibrary.org/obo/DOID_906

http://www.orpha.net/ORDO/Orphanet_68373

http://identifiers.org/snomedct/238059005

http://purl.obolibrary.org/obo/NCIT_C85005

id

MONDO:0019053