Arthrogryposis, Distal, Type 6 (DA6)

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Disease Ontology 12 DOID:0111609 OMIM 56 108200 OMIM Phenotypic Series 56 PS108120 MeSH 43 C535386 SNOMED-CT 67 720515009 MESH via Orphanet 44 C535386

ICD10 via Orphanet 33 Q68.8 UMLS via Orphanet 72 C1862471 Orphanet 58 ORPHA1144 MedGen 41 C1862471 SNOMED-CT via HPO 68 111246005 237836003 238108007 263681008 285384003 60700002 62250003 77016009 84445001 more UMLS 71 C1862471

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1144 Definition A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Visit the Orphanet disease page for more resources.

MalaCards based summary : Arthrogryposis, Distal, Type 6, also known as arthrogryposis-like hand anomaly and sensorineural deafness, is related to branchiootic syndrome 1. Affiliated tissues include eye, bone and skin, and related phenotypes are joint stiffness and sensorineural hearing impairment

Disease Ontology : ¹² A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.

OMIM : ⁵⁶ 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). (108200)

Clinical features from OMIM:

108200

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 6

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 6.