Terminology Service for NFDI4Health
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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, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. [ ]

Term info

Label

peroxisomal disease

Synonyms
  • disorder of peroxisomal function
  • peroxisomal disease
  • peroxisomal disorder
  • peroxisomal function disorder
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

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

id

MONDO:0019053