Chromosome xq21 deletion syndrome

Preferred Label : Chromosome xq21 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Choroideremia, deafness, and mental retardation;

Inheritance : X-linked recessive;

Molecular basis : Contiguous gene syndrome caused by deletion of chromosome Xq21 including at least the Rab escort protein 1 gene (CHM, 300390) and the POU domain, class 3, transcription factor 4 gene (POU3F4, 300039);

Prefixed ID : #303110;

Details

Origin ID

303110;

UMLS CUI

C3551019;

Currated CISMeF NLP mapping
- Ayazi syndrome [MeSH concept]
- Choroideremia with deafness and obesity syndrome (disorder) [SNOMED CT concept]
- Xq21 microdeletion syndrome [ORDO Disease]
- ayazi syndrome [MeSH Supplementary Concept]
HPO term(s)
- Chorioretinal atrophy [HPO term]
- Chorioretinal degeneration [HPO term]
- Choroideremia [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital deafness [HPO term]
- Constriction of peripheral visual field [HPO term]
- Contiguous gene syndrome [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Incomplete partition of the cochlea [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Nyctalopia [HPO term]
- Obesity [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Progressive visual loss [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Xq21 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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