Xanthomatosis
Symptom Information:
Symptom ID: | HPO:0000991 | ||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the integument(HPO:0001574) Abnormality of the skin(HPO:0000951) Localized skin lesion(HPO:0011355) Xanthomatosis(HPO:0000991) MedDRA: Skin and subcutaneous tissue disorders(MedDRA:10040785) Epidermal and dermal conditions(MedDRA:10014982) Dermal and epidermal conditions NEC(MedDRA:10012424) Xanthomatosis(HPO:0000991) Metabolism and nutrition disorders(MedDRA:10027433) Abnormality of lipid metabolism(HPO:0003119) Lipid metabolism and deposit disorders NEC(MedDRA:10024581) Xanthomatosis(HPO:0000991) Congenital, familial and genetic disorders(MedDRA:10010331) Metabolic and nutritional disorders congenital(MedDRA:10027424) Abnormality of lipid metabolism(HPO:0003119) Lipid metabolism and deposit disorders NEC(MedDRA:10024581) Xanthomatosis(HPO:0000991) |
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Database Frequency: | 16 / 7739 | ||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
APOLIPOPROTEIN E | (OMIM:107741) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
Ataxia with vitamin E deficiency | (Orphanet:96) |
Cerebrotendinous xanthomatosis | (Orphanet:909) |
Familial partial lipodystrophy, Dunnigan type | (Orphanet:2348) |
Familial partial lipodystrophy, Köbberling type | (Orphanet:79084) |
GLYCOGEN STORAGE DISEASE Ic | (OMIM:232240) |
Glycogen storage disease due to glucose-6-phosphatase deficiency | (Orphanet:364) |
Glycogen storage disease due to glucose-6-phosphatase deficiency type a | (Orphanet:79258) |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B | (OMIM:144010) |
MELAS | (Orphanet:550) |
MERRF | (Orphanet:551) |
Niemann-Pick disease type A | (Orphanet:77292) |
XANTHOMATOSIS, SUSCEPTIBILITY TO | (OMIM:602247) |
[DEL] GLYCOGEN STORAGE DISEASE Ib | (OMIM:232220) |