Split-hand/foot malformation 2

Preferred Label : Split-hand/foot malformation 2;

Symbol : SHFM2;

CISMeF acronym : SHFD2; SHFM2; SHSF2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : SHFD2; Split-hand/foot deformity 2; Split-hand/split-foot anomaly, X-linked; SHSF2;

Description : Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).;

Inheritance : X-linked (Xq26);

Prefixed ID : %313350;

Details

Origin ID

313350;

UMLS CUI

C1839258;

Broader ORDO disease(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Currated CISMeF NLP mapping
- Split-Hand foot malformation 2 [MeSH Supplementary Concept]
- Split-Hand foot malformation 2 [MeSH concept]
- split hand-foot malformation 2 [DO Concept]
DO Cross reference
- split hand-foot malformation 2 [DO Concept]
HPO term(s)
- Finger syndactyly [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split-Hand foot malformation 2 [MeSH Supplementary Concept]
- Split-Hand foot malformation 2 [MeSH concept]

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