GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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6
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OrphanetNr:
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OMIM Id:
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615925
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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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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:0012506)
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Small pituitary gland |
Occasional [HPO:probinson]
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2 / 7739
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2
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(HPO:0002750)
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Delayed skeletal maturation |
Occasional [HPO:probinson]
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250 / 7739
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3
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(HPO:0008897)
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Postnatal growth retardation |
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113 / 7739
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4
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(HPO:0004322)
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Short stature |
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1232 / 7739
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5
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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6
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |