JSON

Zellweger spectrum disorders

^ http://purl.obolibrary.org/obo/MONDO_0019609

The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. [ Orphanet:912 ]

Term info

database cross reference
  • UMLS:C0043459 (Orphanet:912/e)
  • MESH:D015211 (Orphanet:912/e)
  • DOID:905 (MONDO:equivalentTo)
  • GARD:0007917 (MONDO:equivalentTo)
  • SCTID:88469006 (MONDO:equivalentTo)
  • NCIT:C85239 (https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24)
  • Orphanet:912 (MONDO:equivalentTo)
  • ICD10CM:E71.510 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ZS [ Orphanet:912 ]

abbreviation
ZWS [ GARD:0007917 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/pull/2571/, https://github.com/monarch-initiative/mondo/issues/2632

comment

Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61

definition

The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0043459, http://purl.bioontology.org/ontology/ICD10CM/E71.510, http://identifiers.org/mesh/D015211, http://purl.obolibrary.org/obo/DOID_905, http://purl.obolibrary.org/obo/NCIT_C85239, http://purl.obolibrary.org/obo/Orphanet_912, http://identifiers.org/snomedct/88469006

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328, http://purl.obolibrary.org/obo/MONDO_0019743

has exact synonym

ZWS, Zellweger spectrum disorders, Zellweger syndrome, cerebrohepatorenal syndrome, ZS, congenital iron overload

has related synonym

Zellweger leukodystrophy

id

MONDO:0019609