Lubs X-Linked Mental Retardation Syndrome

Preferred Label : Lubs X-Linked Mental Retardation Syndrome;

NCIt synonyms : MRXSL; MECP2 Duplication Syndrome;

NCIt definition : An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.;

Details

Origin ID

C126747;

UMLS CUI

C1846058;

Automatic exact mappings (from CISMeF team)
- MECP2 duplication syndrome [DO Concept]
- Proximal Xq28 duplication syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked, syndromic, lubs type [OMIM Phenotype]
- Lubs X-linked mental retardation syndrome [MeSH concept]
- MECP2 duplication syndrome [ORDO Disease]
- Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) [SNOMED CT concept]
- lubs X-linked mental retardation syndrome [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Lubs type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Lubs type [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, lubs type [OMIM Phenotype]
- Lubs X-linked mental retardation syndrome [MeSH concept]
- MECP2 duplication syndrome [ORDO Disease]
- Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) [SNOMED CT concept]
- lubs X-linked mental retardation syndrome [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Lubs type [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- MECP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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