loading...| Preferred Name |
May-Hegglin anomaly |
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| Synonyms |
giant platelet syndrome with thrombocytopenia May-Hegglin anomaly Epstein syndrome May-Hegglin thrombocytopenia macrothrombocytopenia and progressive sensorineural deafness Sebastian syndrome Fechtner syndrome Brodie Chole griffin syndrome MHA bleeding disorder, Platelet-type, 6 matins macrothrombocytopenia progressive deafness Alport syndrome with macrothrombocytopenia, formerly macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions FTNS macrothrombocytopenia, nephritis, and deafness Alport syndrome with macrothrombocytopenia macrothrombocytopenia with dispersed leukocytic inclusions Sebastian Platelet syndrome Dohle leukocyte inclusions with giant platelets macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia with leukocyte inclusions SBS |
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| Definitions |
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007954 |
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| closeMatch |
http://linkedlifedata.com/resource/umls/id/C0340978 |
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| database_cross_reference |
Orphanet:1984 OMIM:605249 SCTID:236422008 UMLS:CN226018 Orphanet:1019 ICD9:582.89 OMIM:600208 Orphanet:850 Orphanet:807 NCIT:C131642 SCTID:234485006 MESH:C537831 UMLS:C1834478 NCIT:C131639 OMIM:155100 NCIT:C131650 UMLS:CN226270 NCIT:C131646 UMLS:C0398641 ICD9:759.89 UMLS:CN226030 UMLS:C0403445 SCTID:234484005 OMIM:153640 GARD:0000179 OMIM:153650 |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C131650 http://identifiers.org/snomedct/236422008 http://linkedlifedata.com/resource/umls/id/CN226018 http://www.orpha.net/ORDO/Orphanet_1984 http://identifiers.org/omim/600208 http://linkedlifedata.com/resource/umls/id/C0403445 http://purl.obolibrary.org/obo/NCIT_C131639 http://identifiers.org/omim/153650 http://identifiers.org/omim/605249 http://www.orpha.net/ORDO/Orphanet_1019 http://identifiers.org/snomedct/234485006 http://linkedlifedata.com/resource/umls/id/C1834478 http://www.orpha.net/ORDO/Orphanet_850 http://linkedlifedata.com/resource/umls/id/CN226270 http://purl.obolibrary.org/obo/NCIT_C131646 http://purl.obolibrary.org/obo/NCIT_C131642 http://identifiers.org/omim/153640 http://linkedlifedata.com/resource/umls/id/C0398641 http://identifiers.org/snomedct/234484005 http://identifiers.org/mesh/C537831 http://www.orpha.net/ORDO/Orphanet_807 |
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| has exact synonym |
giant platelet syndrome with thrombocytopenia May-Hegglin anomaly Epstein syndrome May-Hegglin thrombocytopenia macrothrombocytopenia and progressive sensorineural deafness Sebastian syndrome Fechtner syndrome |
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| has related synonym |
Brodie Chole griffin syndrome MHA bleeding disorder, Platelet-type, 6 matins macrothrombocytopenia progressive deafness Alport syndrome with macrothrombocytopenia, formerly macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions FTNS macrothrombocytopenia, nephritis, and deafness Alport syndrome with macrothrombocytopenia macrothrombocytopenia with dispersed leukocytic inclusions Sebastian Platelet syndrome Dohle leukocyte inclusions with giant platelets macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia with leukocyte inclusions SBS |
|
| id |
MONDO:0007954 |
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| imported from | ||
| in_subset | ||
| label |
May-Hegglin anomaly |
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| notation |
MONDO:0007954 |
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| prefLabel |
May-Hegglin anomaly |
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| textual definition |
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. |
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| subClassOf |