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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Albinism | |
| Synonyms |
|
|
| Definitions |
An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00085497 |
|
| Database_Cross_Reference |
HPO:HP:0001022 ICD10AM:E70.3 MDR:10001557 SNOMEDCT_US:190688009 COSTAR:NOCODE CHV:0000000858 MEDCIN:315370 NCI_NICHD:C84543 DO:DOID:0060831 SNMI:D6-A2400 MSH:D000417 ICD10CM:E70.30 SNOMEDCT_US:190695000 NDFRT:N0000000348 MEDCIN:6090 CSP:1849-0399 SNOMEDCT_US:154738008 CCPSS:0057144 NCI:C84543 ICPC2P:A90014 RCD:XE117 ICD10:E70.3 MTHICD9:270.2 OMIM:MTHU037234 SNOMEDCT_US:15890002 ICD10CM:E70.3 PSY:01640 SNM:D-3740 NCI_NCI-GLOSS:CDR0000442860 SNOMEDCT_US:267498002
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|
| Definition |
An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
|
|
| label |
Albinism
|
|
| MCID |
MC00000502
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|
| PMOID |
PMO:00085497
|
|
| prefixIRI |
pmo:PMO_00085497
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|
| prefLabel |
Albinism
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|
| Synonym |
Griscelli-Pruni��ras syndrome Albinismus Albinism, NOS albino Albinismus, NOS albinism (diagnosis) Griscelli syndrome partial albinism-immunodeficiency syndrome ALBINISM Albino Ch��diak-Higashi-like syndrome albinism albinismus albinism (physical finding) 6-A24-A26 ALBINISM Albinism, unspecified Albinism [Disease/Finding] Albinism (disorder)
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| Tree Number |
T9.14.1.40.3.2 T9.8.4.1.24 T9.18.2.54.3.2 T9.11.1.12.6.6 T9.14.1.1.24 T9.8.4.14.6.6 T9.2.23.7 T9.8.4.54.7
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036738 http://www.phoc.org.cn/pmo/class/PMO_00009031 http://www.phoc.org.cn/pmo/class/PMO_00036594 |
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