Arthrogryposis, distal, type 4

Preferred Label : Arthrogryposis, distal, type 4;

Symbol : DA4;

CISMeF acronym : DAIID; DA4;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Arthrogryposis with severe scoliosis; DAIID; Arthrogryposis, distal, type iid;

Description : Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).;

Inheritance : Autosomal dominant;

Prefixed ID : %609128;

Details

Origin ID

609128;

UMLS CUI

C1836756;

Currated CISMeF NLP mapping
- Arthrogryposis - severe scoliosis [ICD-11 More detail]
- Arthrogryposis-severe scoliosis syndrome [ORDO Disease]
- Distal arthrogryposis type 4 (disorder) [SNOMED CT concept]
- arthrogryposis, distal, type 4 [MeSH concept]
- arthrogryposis, distal, type 4 [MeSH Supplementary Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 4 [DO Concept]
HPO term(s)
- 2-5 finger cutaneous syndactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Camptodactyly [HPO term]
- Camptodactyly of 2nd-5th fingers [HPO term]
- Cranial asymmetry [HPO term]
- Depressed nasal bridge [HPO term]
- Deviation of the 2nd toe [HPO term]
- Distal arthrogryposis [HPO term]
- Equinovarus deformity [HPO term]
- Fibular deviation of toes [HPO term]
- Horizontal nystagmus [HPO term]
- Hypoplastic helices [HPO term]
- Hypoplastic labia majora [HPO term]
- Intellectual disability, severe [HPO term]
- Kyphosis [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Lumbar scoliosis [HPO term]
- Nystagmus [HPO term]
- Osteopenia [HPO term]
- Scoliosis [HPO term]
- Single transverse palmar crease [HPO term]
- Talipes equinovarus [HPO term]
- Tibial deviation of toes [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Arthrogryposis-severe scoliosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis - severe scoliosis [ICD-11 More detail]
- Arthrogryposis-severe scoliosis syndrome [ORDO Disease]
- Distal arthrogryposis type 4 (disorder) [SNOMED CT concept]
- arthrogryposis, distal, type 4 [MeSH Supplementary Concept]
- arthrogryposis, distal, type 4 [MeSH concept]
- distal arthrogryposis type 4 [DO Concept]

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