WormBase Tree Display for DO_term: DOID:3753
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| DOID:3753 | Name | Hermansky-Pudlak syndrome | |
|---|---|---|---|
| Status | Valid | ||
| Definition | A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. | ||
| Comment | Xref MGI. | ||
| Parent | Is_a | DOID:225 | |
| DOID:0050737 | |||
| Child | Is | DOID:0060539 | |
| DOID:0060540 | |||
| DOID:0060541 | |||
| DOID:0060542 | |||
| DOID:0060543 | |||
| DOID:0060544 | |||
| DOID:0060545 | |||
| DOID:0060546 | |||
| DOID:0060547 | |||
| Disease_model_annotation | WBDOannot00000097 | ||
| WBDOannot00000098 | |||
| WBDOannot00000273 | |||
| WBDOannot00000592 | |||
| WBDOannot00000593 | |||
| WBDOannot00000594 | |||
| Attribute_of | Gene_by_biology | WBGene00019010 | |
| WBGene00015327 | |||
| WBGene00013697 | |||
| WBGene00010283 | |||
| Gene_by_orthology | WBGene00000162 | ||
| WBGene00000163 | |||
| WBGene00011578 | |||
| WBGene00012369 | |||
| Disease_model_variation | WBVar00250855 | ||
| WBVar00275554 | |||
| WBVar00296460 | |||
| WBVar00296459 | |||
| WBVar00296461 |
