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pontocerebellar hypoplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0020135

Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. [ Orphanet:98523 ]

Synonyms: PCH pontocerebellar hypoplasia pontoneocerebllar hypoplasia pontoneocerebellar atrophy

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:45163000 (MONDO:equivalentTo)
  • Orphanet:98523 (MONDO:equivalentTo)
  • UMLS:C1261175 (MONDO:equivalentTo)
  • MEDGEN:224703 (MONDO:equivalentTo)
  • MESH:C580383 (MONDO:equivalentTo)
  • NORD:1596 (MONDO:NORD)
  • OMIMPS:607596 (https://orcid.org/0000-0002-6601-2165)
  • GARD:10977 (MONDO:GARD)
  • icd11.foundation:1565266279 (Orphanet:98523)
  • DOID:0060264 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6752

exactMatch

https://omim.org/phenotypicSeries/PS607596

http://identifiers.org/medgen/224703

http://linkedlifedata.com/resource/umls/id/C1261175

http://identifiers.org/mesh/C580383

http://www.orpha.net/ORDO/Orphanet_98523

http://identifiers.org/snomedct/45163000

http://purl.obolibrary.org/obo/DOID_0060264

has narrow synonym

nonsyndromic pontocerebellar hypoplasia

isolated pontocerebellar hypoplasia

id

MONDO:0020135

seeAlso

https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia