OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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259270
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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:0001831)
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Short toe |
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52 / 7739
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2
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(HPO:0002644)
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Abnormality of pelvic girdle bone morphology |
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31 / 7739
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3
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(HPO:0011314)
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Abnormality of long bone morphology |
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3 / 7739
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4
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(HPO:0009381)
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Short finger |
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45 / 7739
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5
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(HPO:0001510)
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Growth delay |
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295 / 7739
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6
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(HPO:0002205)
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Recurrent respiratory infections |
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254 / 7739
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7
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(OMIM)
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Abnormal long bone and tubular bone modeling |
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1 / 7739
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8
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(OMIM)
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Abnormal pelvis |
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1 / 7739
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9
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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10
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(OMIM)
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Hypoplastic finger and toe bones |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |