Syndactyly, mesoaxial synostotic, with phalangeal reduction

Preferred Label : Syndactyly, mesoaxial synostotic, with phalangeal reduction;

Symbol : MSSD;

CISMeF acronym : MSSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Syndactyly, malik-percin type; Syndactyly, type ix;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gene encoding member A9 of the basic helix-loop-helix family (BHLHA9, 615416.0001);

Prefixed ID : #609432;

Details

Origin ID

609432;

UMLS CUI

C1836206;

Currated CISMeF NLP mapping
- Mesoaxial synostotic syndactyly with phalangeal reduction [ORDO Disease]
- Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) [SNOMED CT concept]
- Syndactyly type 9 [ICD-11 More detail]
- syndactyly, mesoaxial synostotic, with phalangeal reduction [MeSH concept]
- syndactyly, mesoaxial synostotic, with phalangeal reduction [MeSH Supplementary Concept]
Genes related to phenotype
- Basic helix-loop-helix family, member a9 [OMIM gene]
HPO term(s)
- 3-4 finger syndactyly [HPO term]
- Aplasia/Hypoplasia of the hallux [HPO term]
- Aplasia/Hypoplasia of the middle phalanx of the 2nd finger [HPO term]
- Aplasia/Hypoplasia of the middle phalanx of the 5th finger [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Proximal/middle symphalangism of 5th finger [HPO term]
- Single transverse palmar crease [HPO term]
- Symphalangism affecting the phalanges of the hallux [HPO term]
ORDO concept(s)
- Mesoaxial synostotic syndactyly with phalangeal reduction [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mesoaxial synostotic syndactyly with phalangeal reduction [ORDO Disease]
- Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) [SNOMED CT concept]
- syndactyly, mesoaxial synostotic, with phalangeal reduction [MeSH Supplementary Concept]
- syndactyly, mesoaxial synostotic, with phalangeal reduction [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients