Chromosome xq25 duplication syndrome

Preferred Label : Chromosome xq25 duplication syndrome;

Type : Phenotype, molecular basis known;

Included titles and symbols : Chromosome xq25 triplication syndrome;

Inheritance : X-linked;

Molecular basis : Contiguous gene syndrome caused by 202 to 746 kb duplication on chromosome Xq25;

Prefixed ID : #300979;

Details

Origin ID

300979;

UMLS CUI

C4311049;

CISMeF manual mappings
- Xq25 microduplication syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Xq25 Microduplication Syndrome [NCIt concept]
HPO term(s)
- Anxiety [HPO term]
- Cerebellar hypoplasia [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Facial hypotonia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperactivity [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Sparse eyebrow [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Xq25 microduplication syndrome [ORDO Disease]
See also inter- (CISMeF)
- Xq25 microduplication syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xq25 microduplication syndrome [ORDO Disease]

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