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rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • مرض يصيب الإنسان (ar)
  • хвороба (uk)
  • rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures (en)
  • redka oblika sindromskega intelektualnega primanjkljaja, za katero so značilni mikrocefalija, huda razvojna zakasnitev ali regresija, hipotonija, nenormalni gibi in zgodnji napadi (sl)
exact match
exact match
health specialty
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0010278
Disease Ontology ID
  • DOID:0060825
rdfs:label
  • Christianson syndrome (en)
  • Christianson-Syndrom (de)
  • Christiansonen sindrome (eu)
  • Christiansonin oireyhtymä (fi)
  • Christiansonov sindrom (sl)
  • syndrome de Christianson (fr)
  • síndrome de Christianson (es)
skos:prefLabel
  • Christianson syndrome (en)
  • Christianson-Syndrom (de)
  • Christiansonen sindrome (eu)
  • Christiansonin oireyhtymä (fi)
  • Christiansonov sindrom (sl)
  • syndrome de Christianson (fr)
  • síndrome de Christianson (es)
name
  • Christianson syndrome (en)
  • Christianson-Syndrom (de)
  • Christiansonen sindrome (eu)
  • Christiansonin oireyhtymä (fi)
  • Christiansonov sindrom (sl)
  • syndrome de Christianson (fr)
  • síndrome de Christianson (es)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H01914
UniProt disease ID
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-01965
Orphanet ID
  • 85278
ICD-9-CM
  • 759.89
genetic association
ICD-10-CM
  • Q87.8
GARD rare disease ID
  • 9155
  • 10572
OMIM ID
  • 300243
Genetics Home Reference Conditions ID
  • christianson-syndrome
skos:altLabel
  • MRXSCH (en)
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (en)
  • Angelman-Like Syndrome, X-Linked (en)
  • Angelman-like syndrome x-linked (en)
  • MRXS Christianson (en)
  • X-linked Angelman-like syndrome (en)
  • Intellectual disability x-linked syndromic Christianson type (en)
  • Intellectual disability microcephaly epilepsy and ataxia syndrome (en)
  • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome (en)
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH (en)
  • mental retardation, X-linked syndromic, Christianson type (en)
  • X-linked intellectual disability, South African type (en)
  • Déficience intellectuelle liée à l'X type Afrique du Sud (fr)
  • X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy (en)
  • mental retardation, microcephaly, epilepsy, and ataxia syndrome (en)
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH descriptor ID
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