Chromosome xp11.3 deletion syndrome

Preferred Label : Chromosome xp11.3 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, with retinitis pigmentosa;

Inheritance : X-linked recessive;

Molecular basis : Caused by contiguous gene deletion on chromosome Xp11.3, including the RP2 gene (312600);

Prefixed ID : #300578;

Details

Origin ID

300578;

UMLS CUI

C1845136;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual disability-retinitis pigmentosa syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 [ORDO Disease]
- Xp11.3 deletion [ICD-11 More detail]
- chromosome Xp11.3 deletion syndrome [MeSH concept]
- chromosome Xp11.3 deletion syndrome [MeSH Supplementary Concept]
HPO term(s)
- Asthma [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Behavioral abnormality [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Childhood onset [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cryptorchidism [HPO term]
- Global developmental delay [HPO term]
- Horizontal nystagmus [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Moderate myopia [HPO term]
- Nyctalopia [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Posterior subcapsular cataract [HPO term]
- Progeroid facial appearance [HPO term]
- Retinitis pigmentosa, severe [HPO term]
- Rod-cone dystrophy [HPO term]
- Rotary nystagmus [HPO term]
- Short stature [HPO term]
- Undetectable electroretinogram [HPO term]
- Visual impairment [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 [ORDO Disease]
- X-linked intellectual disability-retinitis pigmentosa syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 [ORDO Disease]
- Xp11.3 deletion [ICD-11 More detail]
- chromosome Xp11.3 deletion syndrome [MeSH Supplementary Concept]
- chromosome Xp11.3 deletion syndrome [MeSH concept]

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