loading...| Preferred Name |
Proteus syndrome |
|
| Synonyms |
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome |
|
| Definitions |
Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_744 |
|
| alternative_term |
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome |
|
| definition |
Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 |
|
| has_age_of_onset |
Infancy |
|
| has_inheritance |
Not applicable |
|
| hasDbXref |
MedDRA:10074067 ICD-10:Q87.3 OMIM:176920 MeSH:D016715 UMLS:C0085261 ICD-11:LD2C |
|
| label |
Proteus syndrome |
|
| notation |
ORPHA:744 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_93460 http://www.orpha.net/ORDO/Orphanet_211277 http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_294057 http://www.orpha.net/ORDO/Orphanet_156237 http://www.orpha.net/ORDO/Orphanet_459537 |
|
| prefixIRI |
ORDO:Orphanet_744 |
|
| prefLabel |
Proteus syndrome |
|
| present_in |
Europe AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_93460 http://www.orpha.net/ORDO/Orphanet_211277 http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_294057 http://www.orpha.net/ORDO/Orphanet_156237 http://www.orpha.net/ORDO/Orphanet_459537 |
|
| subClassOf |