Chromosome 1q21.1 duplication syndrome

Preferred Label : Chromosome 1q21.1 duplication syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Isolated cases;

Molecular basis : Caused by a 1.35-Mb duplication of chromosome 1q21;

Prefixed ID : #612475;

Details

Origin ID

612475;

UMLS CUI

C2675891;

Currated CISMeF NLP mapping
- 1q21.1 duplication [ICD-11 More detail]
- 1q21.1 microduplication syndrome [ORDO Disease]
- 1q21.1 microduplication syndrome (disorder) [SNOMED CT concept]
- chromosome 1q21.1 duplication syndrome [DO Concept]
- chromosome 1q21.1 duplication syndrome [MeSH concept]
- chromosome 1q21.1 duplication syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 1q21.1 duplication syndrome [DO Concept]
HPO term(s)
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Frontal bossing [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability, mild [HPO term]
- Isolated cases [HPO term]
- Macrocephaly [HPO term]
- Schizophrenia [HPO term]
- Seizure [HPO term]
- Specific learning disability [HPO term]
- Sporadic [HPO term]
Not associated HPO term(s)
- Abnormality of body height [HPO term]
ORDO concept(s)
- 1q21.1 microduplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 1q21.1 duplication [ICD-11 More detail]
- 1q21.1 microduplication syndrome [ORDO Disease]
- chromosome 1q21.1 duplication syndrome [MeSH Supplementary Concept]
- chromosome 1q21.1 duplication syndrome [MeSH concept]
- chromosome 1q21.1 duplication syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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