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A severe neurodevelopmental disorder affecting the central nervous system. [ Orphanet : 778 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10039000 (Orphanet:778/e)
  • Orphanet:778 (OMIM:312750)
  • ICD9:330.8 (MONDO:relatedTo)
  • NCIT:C75488 (MONDO:equivalentTo)
  • GARD:0005696 (MONDO:equivalentTo)
  • UMLS:C0035372 (Orphanet:778/e)
  • OMIM:312750 (Orphanet:778/e)
  • DOID:1206 (MONDO:equivalentTo)
  • SCTID:68618008 (MONDO:equivalentTo)
  • MESH:D015518 (Orphanet:778/e)
Subsets

ordo_disease

closeMatch
  • http://identifiers.org/meddra/10039000
definition
  • A severe neurodevelopmental disorder affecting the central nervous system.
exactMatch
  • http://www.orpha.net/ORDO/Orphanet_778
  • http://purl.obolibrary.org/obo/DOID_1206
  • http://identifiers.org/mesh/D015518
  • http://purl.obolibrary.org/obo/NCIT_C75488
  • http://identifiers.org/snomedct/68618008
  • http://linkedlifedata.com/resource/umls/id/C0035372
  • https://omim.org/entry/312750
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0015653
  • http://purl.obolibrary.org/obo/MONDO_0020119
  • http://purl.obolibrary.org/obo/MONDO_0017656
has exact synonym
  • rett syndrome, preserved speech variant, X-linked dominant
  • rett syndrome, X-linked dominant
  • cerebroatrophic hyperammonemia
  • Rett syndrome
  • rett syndrome, atypical, X-linked dominant
  • Rett's disorder
has related synonym
  • autism, dementia, ataxia, and loss of purposeful hand use
  • Rett syndrome, preserved speech variant
  • RTT
  • Rts
  • Rett syndrome, Zappella variant
  • Rett syndrome, atypical
id
  • MONDO:0010726
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4521
  • https://github.com/monarch-initiative/mondo/issues/3680