Chromosome 5p13 duplication syndrome

Preferred Label : Chromosome 5p13 duplication syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Isolated cases;

Molecular basis : Caused by duplication of 0.25 to 1.08 Mb on chromosome 5p13;

Laboratory abnormalities : Microduplication of chromosome 5p13;

Prefixed ID : #613174;

Details

Origin ID

613174;

UMLS CUI

C2750805;

Currated CISMeF NLP mapping
- 5p13 microduplication syndrome [ORDO Disease]
- 5p13 microduplication syndrome (disorder) [SNOMED CT concept]
- chromosome 5p13 duplication syndrome [DO Concept]
- chromosome 5p13 duplication syndrome [MeSH concept]
- chromosome 5p13 duplication syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 5p13 duplication syndrome [DO Concept]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Astigmatism [HPO term]
- Bitemporal narrowing [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Broad nasal root [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Craniosynostosis [HPO term]
- Epicanthus [HPO term]
- Exotropia [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Large hands [HPO term]
- Long fingers [HPO term]
- Long foot [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Narrow forehead [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Proptosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Sleep disturbance [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
- Sporadic [HPO term]
- Turricephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 5p13 microduplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5p13 microduplication syndrome [ORDO Disease]
- chromosome 5p13 duplication syndrome [MeSH Supplementary Concept]
- chromosome 5p13 duplication syndrome [MeSH concept]
- chromosome 5p13 duplication syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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