loading...| Preferred Name | Alstrom Syndrome | |
| Synonyms |
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|
| Definitions |
An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038418 |
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| Database_Cross_Reference |
OMIM:203800 CHV:0000026307 MTH:NOCODE DO:DOID:0050473 CSP:0944-7801 NCI:C84549 CSP:1254-7727 CSP:1114-9526 SNOMEDCT_US:63702009 RCD:Xa0Zf MDR:10068814 SNM:D-X449 NDFRT:N0000181100 SNMI:D6-96300 MDR:10068783 MSH:D056769 OMIM:606844 |
|
| Definition |
An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. |
|
| label |
Alstrom Syndrome |
|
| MCID |
MC00092733 |
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| PMOID |
PMO:00038418 |
|
| prefixIRI |
pmo:PMO_00038418 |
|
| prefLabel |
Alstrom Syndrome |
|
| Synonym |
Alstrom's syndrome Alstrom Syndrome [Disease/Finding] Syndrome, Alstrom Alstrom-Hallgren Syndrome Syndrome, Alstrom-Hallgren Alstrom Hallgren Syndrome alstrom syndrome Alstrom syndrome ALMS Alstrom syndrome (disorder) ALSTROM SYNDROME Alstroms Syndrome Syndrome, Alstrom's alstroms syndrome ALSS Syndrome, Alström Alström Syndrome Alstrom's Syndrome Alstroem syndrome alstrom's syndrome |
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| Tree Number |
T9.8.4.44.21.2 T9.8.4.54.10.1 T9.8.3.20.8.2 T9.2.23.10.1 T9.21.13.6.17.4.2 T9.21.16.8.2 T9.2.2.20.4.1.1 T9.21.4.2.21.2 T9.8.4.4.2 T9.8.3.1.4.2 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00006723 http://www.phoc.org.cn/pmo/class/PMO_00036607 http://www.phoc.org.cn/pmo/class/PMO_00006662 http://www.phoc.org.cn/pmo/class/PMO_00036587 |