Arthrogryposis, distal, type 6

Preferred Label : Arthrogryposis, distal, type 6;

Symbol : DA6;

CISMeF acronym : DA6;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Arthrogryposis and sensorineural deafness;

Description : Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness (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 : 108200;

Details

Origin ID

108200;

UMLS CUI

C1862471;

Automatic exact mappings (from CISMeF team)
- distal arthrogryposis type 6 [DO Concept]
Currated CISMeF NLP mapping
- Arthrogryposis-like hand anomaly - sensorineural deafness [ICD-11 More detail]
- Arthrogryposis-like hand anomaly and sensorineural deafness [MeSH concept]
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome [ORDO Disease]
- Distal arthrogryposis type 6 (disorder) [SNOMED CT concept]
- arthrogryposis-like hand anomaly and sensorineural deafness [MeSH Supplementary Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 6 [DO Concept]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis-like hand anomaly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis-like hand anomaly - sensorineural deafness [ICD-11 More detail]
- Arthrogryposis-like hand anomaly and sensorineural deafness [MeSH concept]
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome [ORDO Disease]
- Distal arthrogryposis type 6 (disorder) [SNOMED CT concept]
- arthrogryposis-like hand anomaly and sensorineural deafness [MeSH Supplementary Concept]
- distal arthrogryposis type 6 [DO Concept]

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