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MCID: SPN414
MIFTS: 13
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Spondylometaphyseal Dysplasia, East African Type
Categories:
Rare diseases
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MalaCards integrated aliases for Spondylometaphyseal Dysplasia, East African Type:
Name: Spondylometaphyseal Dysplasia, East African Type
56
Characteristics:OMIM:56
Inheritance:
isolated cases
Miscellaneous:
similar to spondylometaphyseal dysplasia, type a4 but without anterior tonguing of vertebrae HPO:31Classifications: |
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MalaCards based summary :
Spondylometaphyseal Dysplasia, East African Type, also known as spondylometaphyseal dysplasia east-african type, is related to spondyloepimetaphyseal dysplasia, strudwick type and metaphyseal dysplasia. Affiliated tissues include bone and tongue, and related phenotypes are ovoid vertebral bodies and brachydactyly
More information from OMIM:
611702
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Diseases related to Spondylometaphyseal Dysplasia, East African Type via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Spondylometaphyseal Dysplasia, East African Type:31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:611702 |
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MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, East African Type:40
Bone,
Tongue
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Articles related to Spondylometaphyseal Dysplasia, East African Type:
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Search
GEO
for disease gene expression data for Spondylometaphyseal Dysplasia, East African Type.
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