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loading...| Preferred Name |
Proteus Syndrome [Disease/Finding] |
|
| Synonyms |
Elephant Man Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003460 |
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| altLabel |
Elephant Man Disease Proteus Syndrome |
|
| cui |
C0085261 |
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| MESH DEFINITION |
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics. |
|
| MESH DUI |
D016715 |
|
| MeSH name |
Proteus Syndrome |
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| MESH UI |
M0025456 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000003460 |
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| NUI |
N0000003460 |
|
| prefLabel |
Proteus Syndrome [Disease/Finding] |
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| SNOMED CID |
23150001 |
|
| tui |
T191 |
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| subClassOf |
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