Chromosome 17p13.3, telomeric, duplication syndrome

Preferred Label : Chromosome 17p13.3, telomeric, duplication syndrome;

CISMeF acronym : SHFLD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Split-hand/foot malformation with long bone deficiency 3; SHFLD3;

Description : For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 (119100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of 120-527kb on 17p13.3;

Prefixed ID : #612576;

Details

Origin ID

612576;

UMLS CUI

C2675492;

Currated CISMeF NLP mapping
- Split-Hand-Foot Malformation With Long Bone Deficiency 3 [MeSH concept]
- Split-Hand-Foot Malformation With Long Bone Deficiency 3 [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Ectrodactyly [HPO term]
- Oligodactyly [HPO term]
- Split hand [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Tibial aplasia-ectrodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split-Hand-Foot Malformation With Long Bone Deficiency 3 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation With Long Bone Deficiency 3 [MeSH concept]

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