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DA4
MCID: ART131
MIFTS: 24
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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, Smell/Taste diseases
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MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Anatomical: Ear diseases Bone diseases Muscle diseases Neuronal diseases Respiratory diseases Oral diseases Eye diseases Smell/Taste diseases
ICD10:
34
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OMIM
:
57
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, is also known as arthrogryposis-severe scoliosis syndrome, and has symptoms including torticollis An important gene associated with Arthrogryposis, Distal, Type 4 is DA4 (Arthrogryposis, Distal, Type 4). Affiliated tissues include bone and eye, and related phenotypes are osteopenia and scoliosis |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:609128Human phenotypes related to Arthrogryposis, Distal, Type 4:32 (show all 22)
UMLS symptoms related to Arthrogryposis, Distal, Type 4:torticollis |
Interventional clinical trials:
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MalaCards organs/tissues related to Arthrogryposis, Distal, Type 4:41
Bone,
Eye
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Genes related to Arthrogryposis, Distal, Type 4 (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Arthrogryposis, Distal, Type 4.
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