loading...| Preferred Name | macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | |
| Synonyms |
MYH9 related disorders May-Hegglin thrombocytopenia Dohle leukocyte inclusions with giant platelets macrothrombocytopenia progressive deafness macrothrombocytopenia with leukocyte inclusions Brodie Chole gryphon syndrome macrothrombocytopenia, nephritis, and deafness macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions bleeding disorder, Platelet-type, 6 Alport syndrome with macrothrombocytopenia Alport syndrome with macrothrombocytopenia, formerly MYH9 related thrombocytopenia Brodie Chole griffin syndrome macrothrombocytopenia with dispersed leukocytic inclusions FTNS MHA SBS matins macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Fechtner syndrome Sebastian platelet syndrome Sebastian syndrome MYH9-related disease MYH9-related syndromic thrombocytopenia May-Hegglin anomaly MYH9-related syndrome Epstein syndrome macrothrombocytopenia and progressive sensorineural deafness giant platelet syndrome with thrombocytopenia MYH-9 related disease MYH9-related disorder MYH9-RD |
|
| 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. Macrothrombocytopenia and granulocyte inclusions that may present with or without both nephritis or senorineural hearing loss. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0009646 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0015912 |
|
| database_cross_reference |
ICD9:287.33 MEDGEN:1704278 OMIM:153640 ICD9:759.89 SCTID:234485006 ICD9:582.89 DOID:0060651 Orphanet:807 SCTID:236422008 NCIT:C131646 OMIM:600208 MONDO:0015912 OMIM:155100 NCIT:C158788 SCTID:712922002 Orphanet:182050 MESH:C537831 Orphanet:1019 Orphanet:850 SCTID:234484005 Orphanet:1984 UMLS:C5200934 OMIM:605249 GARD:180 |
|
| 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. Macrothrombocytopenia and granulocyte inclusions that may present with or without both nephritis or senorineural hearing loss. |
|
| has_exact_synonym |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Fechtner syndrome Sebastian platelet syndrome Sebastian syndrome MYH9-related disease MYH9-related syndromic thrombocytopenia May-Hegglin anomaly MYH9-related syndrome Epstein syndrome macrothrombocytopenia and progressive sensorineural deafness giant platelet syndrome with thrombocytopenia MYH-9 related disease MYH9-related disorder MYH9-RD |
|
| has_related_synonym |
MYH9 related disorders May-Hegglin thrombocytopenia Dohle leukocyte inclusions with giant platelets macrothrombocytopenia progressive deafness macrothrombocytopenia with leukocyte inclusions Brodie Chole gryphon syndrome macrothrombocytopenia, nephritis, and deafness macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions bleeding disorder, Platelet-type, 6 Alport syndrome with macrothrombocytopenia Alport syndrome with macrothrombocytopenia, formerly MYH9 related thrombocytopenia Brodie Chole griffin syndrome macrothrombocytopenia with dispersed leukocytic inclusions FTNS MHA SBS matins |
|
| id |
EFO:0009646 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
|
| notation |
EFO:0009646 |
|
| preferred label |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
|
| prefLabel |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
|
| see also |
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 |
|
| term editor |
Baron Koylass |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000009 http://www.orpha.net/ORDO/Orphanet_182050 |