Arthrogryposis, distal, type 7

Preferred Label : Arthrogryposis, distal, type 7;

Symbol : DA7;

CISMeF acronym : DA7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mouth, inability to open completely, and short finger-flexor tendons; Trismus-pseudocamptodactyly syndrome; Hecht syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin, heavy polypeptide-8 gene (MYH8, 160741.0001);

Prefixed ID : #158300;

Details

Origin ID

158300;

UMLS CUI

C0265226;

Automatic exact mappings (from CISMeF team)
- Trismus - pseudocamptodactyly [ICD-11 More detail]
- distal arthrogryposis type 7 [DO Concept]
Currated CISMeF NLP mapping
- Hecht syndrome [MeSH concept]
- Hecht syndrome (disorder) [SNOMED CT concept]
- Trismus-pseudocamptodactyly syndrome [ORDO Disease]
- hecht syndrome [MeSH Supplementary Concept]
- hecht syndrome [SNOMED Notion]
- trismus pseudocamptodactyly syndrome [Disease (Nov.)]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 7 [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 8, skeletal muscle, perinatal [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Deep philtrum [HPO term]
- Distal arthrogryposis [HPO term]
- Dysphagia [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Hammertoe [HPO term]
- Hip dislocation [HPO term]
- Macrocephaly [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Tall chin [HPO term]
- Trismus [HPO term]
ORDO concept(s)
- Trismus-pseudocamptodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hecht syndrome [MeSH concept]
- Hecht syndrome (disorder) [SNOMED CT concept]
- Trismus-pseudocamptodactyly syndrome [ORDO Disease]
- distal arthrogryposis type 7 [DO Concept]
- hecht syndrome [MeSH Supplementary Concept]
- hecht syndrome [SNOMED Notion]
- trismus pseudocamptodactyly syndrome [Disease (Nov.)]

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