DA4
MCID: ART131
MIFTS: 30
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Arthrogryposis, Distal, Type 4 (DA4)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Anatomical: Muscle diseases Neuronal diseases Ear diseases Eye diseases Skin diseases Respiratory diseases Bone diseases Smell/Taste diseases Oral diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
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). (609128)
MalaCards based summary : Arthrogryposis, Distal, Type 4, also known as distal arthrogryposis type 4, is related to dentin caries and arthrogryposis, distal, type 10, and has symptoms including torticollis An important gene associated with Arthrogryposis, Distal, Type 4 is DA4 (Arthrogryposis, Distal, Type 4). Related phenotypes are depressed nasal bridge and scoliosis Disease Ontology : 12 A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. |
Human phenotypes related to Arthrogryposis, Distal, Type 4:31 (show all 22)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609128UMLS symptoms related to Arthrogryposis, Distal, Type 4:torticollis GenomeRNAi Phenotypes related to Arthrogryposis, Distal, Type 4 according to GeneCards Suite gene sharing:26 (show all 19)
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Cochrane evidence based reviews: arthrogryposis, distal, type 4 |
Articles related to Arthrogryposis, Distal, Type 4:
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Search
GEO
for disease gene expression data for Arthrogryposis, Distal, Type 4.
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Biological processes related to Arthrogryposis, Distal, Type 4 according to GeneCards Suite gene sharing:
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