JSON

isolated cerebellar hypoplasia/agenesis

^ http://purl.obolibrary.org/obo/MONDO_0008939

Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. [ NCIT:C98890 ]

Term info

database cross reference
  • DOID:0070338 (MONDO:equivalentTo)
  • GARD:0001194 (MONDO:equivalentTo)
  • Orphanet:1398 (MONDO:equivalentTo)
  • OMIM:213000 (MONDO:equivalentTo)
  • Orphanet:2246 (OMIM:213000)
  • SCTID:16026008 (MONDO:equivalentTo)
  • NCIT:C98890 (MONDO:equivalentTo)
  • MedDRA:10008033 (Orphanet:1398/e)
  • MESH:C562568 (MONDO:equivalentTo)
Subsets

ordo_morphological_anomaly

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10008033

definition

Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C98890, http://purl.obolibrary.org/obo/Orphanet_1398, http://identifiers.org/mesh/C562568, http://identifiers.org/snomedct/16026008, http://purl.obolibrary.org/obo/DOID_0070338, https://omim.org/entry/213000

has exact synonym

Chiari 4 malformation, near total absence of cerebellum, subtotal absence of cerebellum, Chiari IV malformation, cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, congenital cerebellar Hypoplasia

has related synonym

cerebellar hypoplasia, isolated cerebellar agenesis

id

MONDO:0008939