Mental Retardation, X-Linked, Syndromic, Cabezas Type

Preferred Label : Mental Retardation, X-Linked, Syndromic, Cabezas Type;

NCIt synonyms : Mental Retardation, X-Linked, with Short Stature; Mental Retardation, X-Linked, Syndromic 15; MRXSC; MRXS15; MRSS; Cabezas Syndrome; Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait;

NCIt definition : An X-linked recessive condition caused by mutations(s) in the CUL4B gene on chromosome Xq23, encoding a core component of the E3 ubiquitin ligase complex. It is characterized by short stature, hypogonadism, and abnormal gait.;

Details

Origin ID

C167216;

UMLS CUI

C1845861;

Automatic exact mappings (from CISMeF team)
- mental retardation, X-Linked, with short stature [MeSH concept]
- mental retardation, X-Linked, with short stature [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Cabezas syndrome [Disease (Nov.)]
- Intellectual developmental disorder, X-linked, syndromic, cabezas type [OMIM Phenotype]
- X-linked intellectual disability Cabezas type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Cabezas type [ORDO Disease]
- mental retardation, X-Linked, with brachydactyly and macroglossia [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Cabezas type [DO Concept]
See also inter- (CISMeF)
- Intellectual developmental disorder, X-linked, syndromic, chudley-schwartz type [OMIM Phenotype]
- syndromic X-linked intellectual disability Chudley-Schwartz type [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cabezas syndrome [Disease (Nov.)]
- Intellectual developmental disorder, X-linked, syndromic, cabezas type [OMIM Phenotype]
- X-linked intellectual disability Cabezas type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Cabezas type [ORDO Disease]
- mental retardation, X-Linked, with brachydactyly and macroglossia [MeSH Supplementary Concept]
- mental retardation, X-Linked, with brachydactyly and macroglossia [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CUL4B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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