Preferred Name | Pseudoxanthoma Elasticum | |
Synonyms |
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|
Definitions |
An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. |
|
ID |
http://www.phoc.org.cn/pmo/class/PMO_00037376 |
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Database_Cross_Reference |
MDR:10037150 CCPSS:0043215 DO:DOID:2738 SNOMEDCT_US:205574000 MTH:NOCODE MEDLINEPLUS:1411 SNOMEDCT_US:252246005 COSTAR:NOCODE OMIM:264800 SNOMEDCT_US:239140003 NCI:C85036 MEDCIN:31801 SNM:M-56890 MSH:D011561 SNOMEDCT_US:268355000 RCD:PH335 CHV:0000010306 DXP:U001611 OMIM:603234 SNMI:D6-90820 NDFRT:N0000002525 DXP:NOCODE SNOMEDCT_US:157017000 CSP:1849-8016 SNOMEDCT_US:7109007 LCH_NW:sh2005005155 |
|
Definition |
An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. |
|
label |
Pseudoxanthoma Elasticum |
|
MCID |
MC00010860 |
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PMOID |
PMO:00037376 |
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prefixIRI |
pmo:PMO_00037376 |
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prefLabel |
Pseudoxanthoma Elasticum |
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Synonym |
Pseudoxanthoma Elasticum [Disease/Finding] Gronblad-Strandberg syndrome Pseudoxanthoma elasticum (disorder) [Ambiguous] ELASTOSIS DYSTROPHICA SYNDROME Pseudoxanthoma elasticum [Ambiguous] pseudoxanthoma elasticum (diagnosis) ELASTORRHEXIS, SYSTEMIC, OF TOURAINE elasticum pseudoxanthoma Groenblad-Strandberg syndrome PXE - Pseudoxanthoma elasticum PXE PSEUDOXANTHOMA ELASTICUM Pseudoxanthoma elasticum Pseudoxanthoma elasticum (disorder) pseudoxanthoma elasticum |
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Tree Number |
T9.5.2.12.16.11 T9.8.4.1.27 T9.14.1.5.11 T9.14.2.19 T9.8.3.4.11 T9.14.1.1.27 T9.20.2.36.11 |
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subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036738 http://www.phoc.org.cn/pmo/class/PMO_00039222 http://www.phoc.org.cn/pmo/class/PMO_00039327 |