Arthrogryposis, distal, type 10

Preferred Label : Arthrogryposis, distal, type 10;

Symbol : DA10;

CISMeF acronym : DA10;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Tendo calcaneus, short; Congenital plantar contractures;

Description : For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : %187370;

Details

Origin ID

187370;

UMLS CUI

C1861238;

Automatic exact mappings (from CISMeF team)
- 1,10-diaminodecane [MeSH Supplementary Concept]
- distal arthrogryposis type 10 [DO Concept]
Currated CISMeF NLP mapping
- Distal arthrogryposis type 10 [ORDO Disease]
- Distal arthrogryposis type 10 (disorder) [SNOMED CT concept]
- arthrogryposis, distal, type 10 [MeSH concept]
- arthrogryposis, distal, type 10 [MeSH Supplementary Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 10 [DO Concept]
False automatic mappings
- DA-10 [MeSH concept]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Childhood onset [HPO term]
- Distal arthrogryposis [HPO term]
- Elbow flexion contracture [HPO term]
- Hamstring contractures [HPO term]
- Plantar flexion contractures [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Variable expressivity [HPO term]
- Wrist flexion contracture [HPO term]
Not associated HPO term(s)
- Elevated circulating creatine kinase concentration [HPO term]
ORDO concept(s)
- Distal arthrogryposis type 10 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal arthrogryposis type 10 [ORDO Disease]
- Distal arthrogryposis type 10 (disorder) [SNOMED CT concept]
- arthrogryposis, distal, type 10 [MeSH Supplementary Concept]
- arthrogryposis, distal, type 10 [MeSH concept]
- distal arthrogryposis type 10 [DO Concept]

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