SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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OMIM Id:
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271600
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000926)
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Platyspondyly |
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150 / 7739
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2
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(HPO:0008843)
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Hip osteoarthritis |
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12 / 7739
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3
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(HPO:0011909)
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Flattened metacarpal heads |
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2 / 7739
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4
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(HPO:0005194)
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Flattened metatarsal heads |
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3 / 7739
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5
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(HPO:0002655)
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Spondyloepiphyseal dysplasia |
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21 / 7739
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6
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(HPO:0004322)
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Short stature |
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1232 / 7739
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7
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(OMIM)
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Symmetrical polyarticular osteoarthritis |
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1 / 7739
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8
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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9
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(OMIM)
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Deficiency of beta-2-globulin |
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1 / 7739
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10
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(OMIM)
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Flattened metacarpal and metatarsal heads |
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2 / 7739
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11
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(OMIM)
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Severe osteoarthritis of hips |
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1 / 7739
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12
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(OMIM)
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Multiple loose bodies in various joints |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |