JSON

alternating hemiplegia of childhood

^ http://purl.obolibrary.org/obo/MONDO_0016241

A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. [ Orphanet:2131 ]

Term info

database cross reference
  • Orphanet:2131 (MONDO:equivalentTo)
  • DOID:0050635 (MONDO:equivalentTo)
  • NCIT:C35261 (MONDO:equivalentTo)
  • OMIMPS:104290 (MONDO:equivalentTo)
  • UMLS:C0338488 (Orphanet:2131/e)
  • MESH:C536589 (Orphanet:2131/e)
  • SCTID:230466004 (MONDO:equivalentTo)
  • GARD:0000011 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
AHC [ DOID:0050635 Orphanet:2131 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3680

definition

A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050635, http://purl.obolibrary.org/obo/NCIT_C35261, http://identifiers.org/mesh/C536589, http://identifiers.org/snomedct/230466004, http://linkedlifedata.com/resource/umls/id/C0338488, https://omim.org/phenotypicSeries/PS104290, http://purl.obolibrary.org/obo/Orphanet_2131

has exact synonym

congenital adrenal gland hypoplasia, adrenal hypoplasia congenita, childhood alternating hemiplegia, pediatric alternating hemiplegia, congenital adrenal Hypoplasia, alternating hemiplegia of childhood, AHC

has related synonym

alternating hemiplegia, alternating hemiplegia syndrome

id

MONDO:0016241