Arthrogryposis, distal, type 1c

Preferred Label : Arthrogryposis, distal, type 1c;

Symbol : DA1C;

Type : Phenotype, molecular basis known;

Prefixed ID : #619110;

Origin ID

619110;

UMLS CUI

C5436834;

Genes related to phenotype
- Myosin light chain 11 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly of finger [HPO term]
- Camptodactyly of toe [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Elbow flexion contracture [HPO term]
- High palate [HPO term]
- Hip contracture [HPO term]
- Increased nuchal translucency [HPO term]
- Knee flexion contracture [HPO term]
- Limited head rotation [HPO term]
- Limited neck range of motion [HPO term]
- Metacarpophalangeal joint contracture [HPO term]
- Narrow mouth [HPO term]
- Pursed lips [HPO term]
- Retrognathia [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Shoulder flexion contracture [HPO term]
- Talipes equinovarus [HPO term]
- Thin vermilion border [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- Distal arthrogryposis [ORDO Disease]
- Distal arthrogryposis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Distal arthrogryposis type 1 [ORDO Disease]