Chromosome 3q29 duplication syndrome

Preferred Label : Chromosome 3q29 duplication syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microduplication 3q29 syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by microduplication of 3q29;

Laboratory abnormalities : 1.61- and 1.76-Mb microduplication of 3q29;

Prefixed ID : #611936;

Détails

Origin ID

611936;

UMLS CUI

C2749873;

Currated CISMeF NLP mapping
- 3q29 duplication [ICD-11 More detail]
- 3q29 microduplication syndrome [ORDO Disease]
- Chromosome 3q29 duplication syndrome (disorder) [SNOMED CT concept]
- chromosome 3q29 duplication syndrome [MeSH concept]
- chromosome 3q29 duplication syndrome [MeSH Supplementary Concept]
- chromosome 3q29 microduplication syndrome [DO Concept]
DO Cross reference
- chromosome 3q29 microduplication syndrome [DO Concept]
HPO term(s)
- Abnormally large globe [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Downslanted palpebral fissures [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Low posterior hairline [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Multiple palmar creases [HPO term]
- Obesity [HPO term]
- Pes planus [HPO term]
- Round face [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 3q29 microduplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3q29 duplication [ICD-11 More detail]
- 3q29 microduplication syndrome [ORDO Disease]
- Chromosome 3q29 duplication syndrome (disorder) [SNOMED CT concept]
- chromosome 3q29 duplication syndrome [MeSH Supplementary Concept]
- chromosome 3q29 duplication syndrome [MeSH concept]
- chromosome 3q29 microduplication syndrome [DO Concept]

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