Preferred Name |
Wolfram Syndrome |
|
Synonyms |
DIDMOAD |
|
Definitions |
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. |
|
ID |
http://purl.bioontology.org/ontology/MESH/D014929 |
|
altLabel |
DIDMOAD Syndrome, Wolfram DIDMOAD Syndrome DIDMOADUD Wolfram Syndrome 1 Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness |
|
AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
cui |
C0043207 C4551693 |
|
DC |
1 |
|
definition |
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. |
|
DX |
19860101 |
|
HN |
86 |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Machine permutation |
86 |
|
Mapped from | ||
MDA |
19850311 |
|
MMR |
20210630 |
|
MN |
C10.597.751.418.341.186.500.750 C19.246.267.960 C11.966.075.375.750 C16.131.077.299.750 C11.640.451.451.980 C10.574.500.662.980 C16.320.290.564.980 C19.700.159.875 C16.320.400.630.980 C10.597.751.941.162.625.750 C10.292.700.225.500.980 C09.218.458.341.186.500.750 C18.452.394.750.124.960 C12.050.351.968.419.135.875 C12.200.777.419.135.875 C11.270.564.980 C12.950.419.135.875 |
|
notation |
D014929 |
|
prefLabel |
Wolfram Syndrome |
|
TERMUI |
T043608 T043607 T811951 T843884 T750433 T751285 T842713 |
|
TH |
OMIM (2013) NLM (1986) NLM (2010) GHR (2014) ORD (2010) |
|
tui |
T047 |
|
subClassOf |
http://purl.bioontology.org/ontology/MESH/D003922 http://purl.bioontology.org/ontology/MESH/D054062 |