loading...| Preferred Name |
Wolfram Syndrome |
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| Synonyms |
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|
| Definitions |
An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036605 |
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| Database_Cross_Reference |
NDFRT:N0000003167 MTH:NOCODE OMIM:606201 CSP:0977-5687 DO:DOID:0110629 OMIM:222300 MDR:10078338 SNM:D-X435 MSH:D014929 SNOMEDCT_US:70694009 CHV:0000013178 JABL:660 MEDCIN:354152 RCD:X008t CSP:2042-6601 SNMI:DB-61790 MDR:10078339 NCI:C35133 DO:DOID:10632 |
|
| Definition |
An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. |
|
| label |
Wolfram Syndrome |
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| MCID |
MC00013733 |
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| PMOID |
PMO:00036605 |
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| prefixIRI |
pmo:PMO_00036605 |
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| prefLabel |
Wolfram Syndrome |
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| Synonym |
Diab insipidus,diab mell,optic atrophy and deafness DIDMOAD syndrome didmoad syndrome WOLFRAM SYNDROME 1 Wolfram syndrome 1 DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) wolfram syndrome DIDMOAD Wolfram syndrome Wolfram Syndrome 1 diabetes mellitus and insipidus with optic atrophy and deafness (diagnosis) Diabetes mellitus and insipidus with optic atrophy and deafness didmoad Diabetes insipidus,diabetes mellitus, optic atrophy and deafness Marquardt-Loriaux syndrome Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness DIDMOAD Syndrome DIDMOADUD WFS Syndrome, Wolfram DIDMOAD-Diab insip,diab mel,optic atroph+deafness diabetes insipidus-diabetes mellitus-optic atrophy syndrome Diabetes mellitus AND insipidus with optic atrophy AND deafness diabetes insipidus-diabetes mellitus-optic atrophy (DIDMO) syndrome WFS1 Diabetes insipidus,diabetes mellitus, optic atrophy and deafness (disorder) DIDMOAD - Diabetes insipidus, diabetes mellitus, optic atrophy and deafness diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness diabetes insipidus and mellitus with optic atrophy and deafness DIDMOAD - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness Diab ins,diab mell,opt at,deaf Wolfram Syndrome [Disease/Finding] Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness |
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| Tree Number |
T3.25.11.6.1.8.2.1 T9.8.4.54.2.1 T3.25.152.3.3.1.1 T9.21.15.5.1.1.5.1 T9.8.3.1.8.1 T9.4.3.12.3.3.1.1 T9.21.1.6.2.3.3.1.1 T3.25.143.1.8.2.1 T3.25.11.6.2.3.3.1.1 T9.9.12.7.1 T9.11.1.3.5.7.1 T3.25.240.3.1.1 T3.25.143.2.3.3.1.1 T3.25.125.1 T9.21.1.6.1.8.2.1 T3.25.141.8.2.1 T9.2.23.2.1 T9.8.4.44.1.1 T9.2.17.8.2.1 T9.9.2.5.1 T9.21.9.11.8.1.1 T9.19.2.2.3.6.1 T9.2.21.8.1.1 T9.21.4.2.1.1 T9.24.2.3.6.1 T3.25.208.1.1 T9.23.4.7.1 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036604 http://www.phoc.org.cn/pmo/class/PMO_00037429 |