CHOLESTEROL PNEUMONIA
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
215030
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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:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000961) | Cyanosis | 60 / 7739 | ||||
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(HPO:0002789) | Tachypnea | 48 / 7739 | ||||
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(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
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([DEL]MedDRA:10011224) | Cough | 70 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Cholesterol pneumonia | 1 / 7739 | ||||
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(HPO:0012735) | Cough | 24 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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