loading...| Preferred Name | macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | |
| Synonyms |
Brodie Chole griffin syndrome MHA bleeding disorder, Platelet-type, 6 matins macrothrombocytopenia progressive deafness Alport syndrome with macrothrombocytopenia, formerly Brodie Chole gryphon syndrome macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions FTNS macrothrombocytopenia, nephritis, and deafness MYH9 related thrombocytopenia MYH9 related disorders Alport syndrome with macrothrombocytopenia macrothrombocytopenia with dispersed leukocytic inclusions May-Hegglin thrombocytopenia Dohle leukocyte inclusions with giant platelets macrothrombocytopenia with leukocyte inclusions SBS MYH-9 related disease MYH9-RD giant platelet syndrome with thrombocytopenia Sebastian platelet syndrome May-Hegglin anomaly Epstein syndrome MYH9-related disease macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia and progressive sensorineural deafness MYH9-related syndrome Sebastian syndrome MYH9-related disorder MYH9-related syndromic thrombocytopenia Fechtner syndrome |
|
| Definitions |
An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015912 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0015912 |
|
| database_cross_reference |
Orphanet:1984 OMIM:605249 SCTID:236422008 EFO:0009646 MEDGEN:1704278 Orphanet:1019 ICD9:582.89 OMIM:600208 Orphanet:850 Orphanet:807 SCTID:234485006 DOID:0060651 MESH:C537831 OMIM:155100 SCTID:712922002 NCIT:C131646 UMLS:C5200934 ICD9:759.89 ICD9:287.33 Orphanet:182050 GARD:180 NCIT:C158788 SCTID:234484005 OMIM:153640 |
|
| definition |
An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
|
| has_exact_synonym |
MYH-9 related disease MYH9-RD giant platelet syndrome with thrombocytopenia Sebastian platelet syndrome May-Hegglin anomaly Epstein syndrome MYH9-related disease macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia and progressive sensorineural deafness MYH9-related syndrome Sebastian syndrome MYH9-related disorder MYH9-related syndromic thrombocytopenia Fechtner syndrome |
|
| has_related_synonym |
Brodie Chole griffin syndrome MHA bleeding disorder, Platelet-type, 6 matins macrothrombocytopenia progressive deafness Alport syndrome with macrothrombocytopenia, formerly Brodie Chole gryphon syndrome macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions FTNS macrothrombocytopenia, nephritis, and deafness MYH9 related thrombocytopenia MYH9 related disorders Alport syndrome with macrothrombocytopenia macrothrombocytopenia with dispersed leukocytic inclusions May-Hegglin thrombocytopenia Dohle leukocyte inclusions with giant platelets macrothrombocytopenia with leukocyte inclusions SBS |
|
| id |
MONDO:0015912 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
|
| notation |
MONDO:0015912 |
|
| prefLabel |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C5200934 http://identifiers.org/snomedct/236422008 http://identifiers.org/medgen/1704278 http://purl.obolibrary.org/obo/DOID_0060651 http://purl.obolibrary.org/obo/Orphanet_182050 http://identifiers.org/snomedct/234485006 http://identifiers.org/snomedct/712922002 http://purl.obolibrary.org/obo/NCIT_C158788 http://purl.obolibrary.org/obo/NCIT_C131646 http://purl.obolibrary.org/obo/EFO_0009646 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0000009 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000009 |