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Christianson syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010278

A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. [ Orphanet : 85278 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:85278 (OMIM:300243)
  • ICD9:759.89 (MONDO:relatedTo)
  • MESH:C567484 (MONDO:equivalentTo)
  • GARD:0010572 (MONDO:equivalentTo)
  • OMIM:300243 (Orphanet:85278/e)
  • DOID:0060825 (MONDO:equivalentTo)
  • SCTID:702354007 (MONDO:equivalentTo)
  • UMLS:C2678194 (Orphanet:85278)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
MRXSCH [ MONDO : Lexical https://omim.org/entry/300243 DOID : 0060825 ]
A synonym that is historic and discouraged
mental retardation, X-linked, syndromic, Christianson type [ https://omim.org/entry/300243 MONDO : Lexical ]
A synonym that is historic and discouraged
mental retardation, X-linked syndromic, Christianson type [ DOID : 0060825 ]
A synonym that is historic and discouraged
mental retardation, microcephaly, epilepsy, and ataxia syndrome [ https://omim.org/entry/300243 DOID : 0060825 ]
definition
  • A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
exactMatch
  • http://www.orpha.net/ORDO/Orphanet_85278
  • http://linkedlifedata.com/resource/umls/id/C2678194
  • http://purl.obolibrary.org/obo/DOID_0060825
  • http://identifiers.org/mesh/C567484
  • http://identifiers.org/snomedct/702354007
  • https://omim.org/entry/300243
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0015159
  • http://purl.obolibrary.org/obo/MONDO_0016612
  • http://purl.obolibrary.org/obo/MONDO_0020119
has exact synonym
  • mental retardation, microcephaly, epilepsy, and ataxia syndrome
  • MRXSCH
  • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
  • mental retardation, X-linked syndromic, Christianson type
  • X-linked intellectual disability, South African type
  • X-linked Angelman-like syndrome
  • Christianson syndrome
  • intellectual disability, microcephaly, epilepsy, and ataxia syndrome
  • intellectual disability, X-linked syndromic, Christianson type
  • intellectual developmental disorder, X-linked syndromic, Christianson type
has related synonym
  • intellectual disability microcephaly epilepsy and ataxia syndrome
  • X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy
  • Angelman-like syndrome, X-linked
  • Angelman-like syndrome x-linked
  • intellectual disability x-linked syndromic Christianson type
  • mental retardation, X-linked, syndromic, Christianson type
  • intellectual disability, X-linked, syndromic, Christianson type
  • MRXS Christianson
id
  • MONDO:0010278
seeAlso
  • https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4521