loading...| Preferred Name | Hermanski-Pudlak Syndrome | |
| Synonyms |
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|
| Definitions |
An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036597 |
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| Database_Cross_Reference |
CSP:0446-1413 CHV:0000015184 ICD10CM:E70.331 MTH:NOCODE DO:DOID:3753 NCI:C37261 SNOMEDCT_US:9311003 MSH:D022861 SNMI:D6-A2420 SNOMEDCT_US:190697008 MEDCIN:30412 RCD:X20Ex CSP:1849-0399 MDR:10071775 SNOMEDCT_US:60255003 SNM:D-4491 NDFRT:N0000004251 |
|
| Definition |
An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. |
|
| label |
Hermanski-Pudlak Syndrome |
|
| MCID |
MC00041116 |
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| PMOID |
PMO:00036597 |
|
| prefixIRI |
pmo:PMO_00036597 |
|
| prefLabel |
Hermanski-Pudlak Syndrome |
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| Synonym |
hermanski-pudlak syndrome Alpha storage pool disease hermansky pudlak syndrome h s p hermansky-pudlak syndrome h p s Hermansky-Pudlack syndrome -RETIRED- H.P.S. Albinism with hemorrhagic diathesis Hermansky Pudlak Syndrome Hermansky-Pudlack syndrome HPS (Hermansky Pudlak syndrome) Hermansky-Pudlak syndrome (diagnosis) Hermanski-Pudlak Syndrome [Disease/Finding] Hermansky-Pudlak syndrome Albinism with haemorrhagic diathesis Hermansky Pudlak syndrome Hermanski Pudlak Syndrome HPS Hermansky-Pudlak Syndrome Hermansky-Pudlak syndrome (disorder) Hermansky-Pudlack syndrome (disorder) |
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| Tree Number |
T9.5.2.14.9.5 T9.11.1.12.6.6.3.1 T9.2.23.7.3.1 T9.14.1.1.24.3.1 T9.8.4.54.7.3.1 T9.5.2.12.14.1 T9.8.4.14.6.6.3.1 T9.5.2.5.2.1 T9.5.2.14.5.1 T9.8.4.1.24.3.1 T9.18.2.54.3.2.3.1 T9.14.1.40.3.2.3.1 T9.8.4.5.5 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036573 |