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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Zellweger Syndrome | |
| Synonyms |
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| Definitions |
A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036703 |
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| Database_Cross_Reference |
MSH:D015211 MTH:NOCODE MTHICD9:277.86 SNOMEDCT_US:88469006 RCD:PKy94 OMIM:602136 NCI:C85239 ICD10CM:E71.510 CSP:1849-1804 MEDCIN:36915 DO:DOID:905 MDR:10053684 SNM:D-5096 OMIM:214100 CHV:0000013272 NCI_NICHD:C85239 MDR:10053706 NDFRT:N0000003205 SNMI:D4-00617
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|
| Definition |
A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
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| label |
Zellweger Syndrome
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| MCID |
MC00013800
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| PMOID |
PMO:00036703
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| prefixIRI |
pmo:PMO_00036703
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| prefLabel |
Zellweger Syndrome
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| Synonym |
Zellweger's Syndrome Cerebro Hepato Renal Syndrome CHRS Zellweger syndrome (disorder) zellweger's syndrome Cerebro-Hepato-Renal Syndrome ZWS cerebrohepatorenal syndrome syndrome zellweger cerebrohepatorenal syndrome (Zellweger syndrome) ZELLWEGER DIS Zellweger syndrome zellweger disease congenital iron overload zellwegers syndrome PBD1A Zellweger syndrome (diagnosis) Zellweger Syndrome [Disease/Finding] CEREBROHEPATORENAL SYNDROME Cerebrohepatorenal Syndrome Zellweger Disease Zellweger's syndrome ZS PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) peroxisome biogenesis disorder zellweger syndrome CHR Cerebrohepatorenal syndrome
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| Tree Number |
T9.11.1.6.2.25 T9.8.4.14.11.7 T9.8.4.14.8.25 T9.11.1.12.11.7 T9.1.4.23 T9.24.2.3.26 T9.11.1.12.8.25 T9.19.2.2.3.26 T9.21.15.5.17.2.25 T9.8.3.1.23
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00008023 http://www.phoc.org.cn/pmo/class/PMO_00037527 http://www.phoc.org.cn/pmo/class/PMO_00036942 http://www.phoc.org.cn/pmo/class/PMO_00038495 |
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