Intellectual developmental disorder, X-linked, syndromic, shashi type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, shashi type;

Symbol : MRXSSH;

CISMeF acronym : MRXS11; SMRXS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SMRXS; Mental retardation, X-linked, shashi type; Shashi X-linked mental retardation syndrome; Mental retardation, X-linked, syndromic 11; MRXS11; Intellectual developmental disorder, X-linked, syndromic 11;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the RNA-binding motif protein, X chromosome gene (RBMX, 300199.0001);

Prefixed ID : #300238;

Details

Origin ID

300238;

UMLS CUI

C1846145;

Automatic exact mappings (from CISMeF team)
- Orofaciodigital syndrome, Shashi type [MeSH concept]
- mental retardation, X-linked, syndromic 11 [HGNC gene]
- syndromic X-linked intellectual disability Shashi type [DO Concept]
Currated CISMeF NLP mapping
- X-linked intellectual disability, Shashi type [ORDO Disease]
- orofaciodigital syndrome, shashi type [MeSH Supplementary Concept]
DO Cross reference
- syndromic X-linked intellectual disability Shashi type [DO Concept]
Genes related to phenotype
- Rna-binding motif protein, X chromosome [OMIM gene]
HPO term(s)
- Bilateral sensorineural hearing impairment [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Coarse facial features [HPO term]
- Intellectual disability, moderate [HPO term]
- Macroorchidism [HPO term]
- Macrotia [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Periorbital fullness [HPO term]
- Prominent supraorbital ridges [HPO term]
- Thick lower lip vermilion [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Shashi type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Orofaciodigital syndrome, Shashi type [MeSH concept]
- X-linked intellectual disability, Shashi type [ORDO Disease]
- orofaciodigital syndrome, shashi type [MeSH Supplementary Concept]

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