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peroxisomal disease

^ 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. [ https://clinicalgenome.org/affiliation/40049/ NCIT:C85005 ]

Term info

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

disease_grouping, ordo_group_of_disorders

IAO 0000233

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

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0282528, http://purl.obolibrary.org/obo/DOID_906, http://purl.obolibrary.org/obo/Orphanet_68373, http://identifiers.org/snomedct/238059005, http://purl.obolibrary.org/obo/NCIT_C85005

has exact synonym

disorder of peroxisomal function, peroxisomal function disorder, peroxisomal disease, peroxisomal disorder

id

MONDO:0019053