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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C580383 (MONDO:equivalentTo)
  • OMIMPS:607596 (MONDO:equivalentTo)
  • GARD:0010977 (MONDO:equivalentTo)
  • SCTID:45163000 (MONDO:equivalentTo)
  • Orphanet:98523 (MONDO:equivalentTo)
  • ICD10:Q04.3 (Orphanet:98523)
  • UMLS:CN924922 (MONDO:equivalentTo)
  • DOID:0060264 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_group_of_disorders

abbreviation
PCH [ Orphanet:98523 DOID:0060264 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0266468

definition

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.

exactMatch

http://identifiers.org/mesh/C580383

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

http://identifiers.org/snomedct/45163000

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

http://linkedlifedata.com/resource/umls/id/CN924922

has exact synonym

PCH

pontocerebellar hypoplasia

pontoneocerebellar atrophy

pontoneocerebllar hypoplasia

has narrow synonym

nonsyndromic pontocerebellar hypoplasia

isolated pontocerebellar hypoplasia

id

MONDO:0020135

seeAlso

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml