Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of blood and blood-forming tissues (HP:0001871)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Hematological neoplasm (HP:0004377)help
..Starting node
..expand
Myelodysplasia (HP:0002863)help
Term ID: 2863
Name: Myelodysplasia
Synonym: Hypoplastic myelodysplasia; Myelodysplastic syndrome
Definition: Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Comments:
Reference: HP:0002863
Genes and Diseases:
 
       Child Nodes:
........expandMultiple lineage myelodysplasia (HP:0012148) help
........expandBilineage myelodysplasia (HP:0012149) help
........expandSingle lineage myelodysplasia (HP:0012150) help
................... HP:0004828 Refractory anemia with ringed sideroblasts

 Sister Nodes: 
..expandLeukemia (HP:0001909) help
..expandLymphoma (HP:0002665) help
..expandLymphoproliferative disorder (HP:0005523) help
..expandMalignant eosinophil proliferation (HP:0006782) help
..expandMultiple myeloma (HP:0006775) help
..expandPlasmacytoma (HP:0011857) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002863HP:0002863Myelodysplasia0ASXL1 CL E G H171023614286Myelodysplastic syndrome614286C3463824OMIM14118318612990
HP:0002863HP:0002863Myelodysplasia0ATRX CL E G H546300448Acquired hemoglobin H disease300448C0585216OMIM1170886300032
HP:0002863HP:0002863Myelodysplasia0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0002863HP:0002863Myelodysplasia0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM11127030617048
HP:0002863HP:0002863Myelodysplasia0FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923588602956
HP:0002863HP:0002863Myelodysplasia0GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM11514171137295
HP:0002863HP:0002863Myelodysplasia0GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM11514171137295
HP:0002863HP:0002863Myelodysplasia0GFI1B CL E G H8328721ORPHA1124238604383
HP:0002863HP:0002863Myelodysplasia0GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM1428980610608
HP:0002863HP:0002863Myelodysplasia0HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM12116915605998
HP:0002863HP:0002863Myelodysplasia0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1266192147796
HP:0002863HP:0002863Myelodysplasia0KIT CL E G H381598849ORPHA11216342164920
HP:0002863HP:0002863Myelodysplasia0LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM1406601601837
HP:0002863HP:0002863Myelodysplasia0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1577217159530
HP:0002863HP:0002863Myelodysplasia0NBEAL2 CL E G H23218721ORPHA15131928614169
HP:0002863HP:0002863Myelodysplasia0RPS14 CL E G H62081535505q- syndrome153550C0740302OMIM110387130620
HP:0002863HP:0002863Myelodysplasia0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117510402603474
HP:0002863HP:0002863Myelodysplasia0RUNX1 CL E G H861601399Familial platelet disorder with associated myeloid malignancy601399C1832388OMIM110510471151385
HP:0002863HP:0002863Myelodysplasia0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM19019440607444
HP:0002863HP:0002863Myelodysplasia0SF3B1 CL E G H23451614286Myelodysplastic syndrome614286C3463824OMIM1410768605590
HP:0002863HP:0002863Myelodysplasia0SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM1111107601736
HP:0002863HP:0002863Myelodysplasia0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM1311301604857
HP:0002863HP:0002863Myelodysplasia0SRP72 CL E G H6731614675Bone marrow failure syndrome 1614675C3808553OMIM1511303602122
HP:0002863HP:0002863Myelodysplasia0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17411727602322
HP:0002863HP:0002863Myelodysplasia0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM117311730187270
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA11225941612839
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H54790614286Myelodysplastic syndrome614286C3463824OMIM11225941612839
HP:0002863HP:0002863Myelodysplasia0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14211824604319
HP:0002863HP:0002863Myelodysplasia1ASXL1 CL E G H171023614286Myelodysplastic syndrome614286C3463824OMIM14118318612990
HP:0002863HP:0002863Myelodysplasia1ATRX CL E G H546300448Acquired hemoglobin H disease300448C0585216OMIM1170886300032
HP:0002863HP:0002863Myelodysplasia1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0002863HP:0002863Myelodysplasia1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM11127030617048
HP:0002863HP:0002863Myelodysplasia1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923588602956
HP:0002863HP:0002863Myelodysplasia1GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM11514171137295
HP:0002863HP:0002863Myelodysplasia1GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM11514171137295
HP:0002863HP:0002863Myelodysplasia1GFI1B CL E G H8328721ORPHA1124238604383
HP:0002863HP:0002863Myelodysplasia1GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM1428980610608
HP:0002863HP:0002863Myelodysplasia1HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM12116915605998
HP:0002863HP:0002863Myelodysplasia1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1266192147796
HP:0002863HP:0002863Myelodysplasia1KIT CL E G H381598849ORPHA11216342164920
HP:0002863HP:0002863Myelodysplasia1LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM1406601601837
HP:0002863HP:0002863Myelodysplasia1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1577217159530
HP:0002863HP:0002863Myelodysplasia1NBEAL2 CL E G H23218721ORPHA15131928614169
HP:0002863HP:0002863Myelodysplasia1RPS14 CL E G H62081535505q- syndrome153550C0740302OMIM110387130620
HP:0002863HP:0002863Myelodysplasia1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117510402603474
HP:0002863HP:0002863Myelodysplasia1RUNX1 CL E G H861601399Familial platelet disorder with associated myeloid malignancy601399C1832388OMIM110510471151385
HP:0002863HP:0002863Myelodysplasia1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM19019440607444
HP:0002863HP:0002863Myelodysplasia1SF3B1 CL E G H23451614286Myelodysplastic syndrome614286C3463824OMIM1410768605590
HP:0002863HP:0002863Myelodysplasia1SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM1111107601736
HP:0002863HP:0002863Myelodysplasia1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM1311301604857
HP:0002863HP:0002863Myelodysplasia1SRP72 CL E G H6731614675Bone marrow failure syndrome 1614675C3808553OMIM1511303602122
HP:0002863HP:0002863Myelodysplasia1TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17411727602322
HP:0002863HP:0002863Myelodysplasia1TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM117311730187270
HP:0002863HP:0002863Myelodysplasia1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA11225941612839
HP:0002863HP:0002863Myelodysplasia1TET2 CL E G H54790614286Myelodysplastic syndrome614286C3463824OMIM11225941612839
HP:0002863HP:0002863Myelodysplasia1TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14211824604319
HP:0002863HP:0002863Myelodysplasia2ASXL1 CL E G H171023614286Myelodysplastic syndrome614286C3463824OMIM14118318612990
HP:0002863HP:0002863Myelodysplasia2ATRX CL E G H546300448Acquired hemoglobin H disease300448C0585216OMIM1170886300032
HP:0002863HP:0002863Myelodysplasia2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0002863HP:0002863Myelodysplasia2DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM11127030617048
HP:0002863HP:0002863Myelodysplasia2FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923588602956
HP:0002863HP:0002863Myelodysplasia2GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM11514171137295
HP:0002863HP:0002863Myelodysplasia2GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM11514171137295
HP:0002863HP:0002863Myelodysplasia2GFI1B CL E G H8328721ORPHA1124238604383
HP:0002863HP:0002863Myelodysplasia2GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM1428980610608
HP:0002863HP:0002863Myelodysplasia2HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM12116915605998
HP:0002863HP:0002863Myelodysplasia2JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1266192147796
HP:0002863HP:0002863Myelodysplasia2KIT CL E G H381598849ORPHA11216342164920
HP:0002863HP:0002863Myelodysplasia2LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM1406601601837
HP:0002863HP:0002863Myelodysplasia2MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1577217159530
HP:0002863HP:0002863Myelodysplasia2NBEAL2 CL E G H23218721ORPHA15131928614169
HP:0002863HP:0002863Myelodysplasia2RPS14 CL E G H62081535505q- syndrome153550C0740302OMIM110387130620
HP:0002863HP:0002863Myelodysplasia2RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117510402603474
HP:0002863HP:0002863Myelodysplasia2RUNX1 CL E G H861601399Familial platelet disorder with associated myeloid malignancy601399C1832388OMIM110510471151385
HP:0002863HP:0002863Myelodysplasia2SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM19019440607444
HP:0002863HP:0002863Myelodysplasia2SF3B1 CL E G H23451614286Myelodysplastic syndrome614286C3463824OMIM1410768605590
HP:0002863HP:0002863Myelodysplasia2SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM1111107601736
HP:0002863HP:0002863Myelodysplasia2SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM1311301604857
HP:0002863HP:0002863Myelodysplasia2SRP72 CL E G H6731614675Bone marrow failure syndrome 1614675C3808553OMIM1511303602122
HP:0002863HP:0002863Myelodysplasia2TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17411727602322
HP:0002863HP:0002863Myelodysplasia2TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM117311730187270
HP:0002863HP:0002863Myelodysplasia2TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA11225941612839
HP:0002863HP:0002863Myelodysplasia2TET2 CL E G H54790614286Myelodysplastic syndrome614286C3463824OMIM11225941612839
HP:0002863HP:0002863Myelodysplasia2TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14211824604319
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002863HP:0002863Myelodysplasia0ATRX CL E G H546231401ORPHA0170886300032
HP:0002863HP:0002863Myelodysplasia0BRAF CL E G H673500ORPHA0681097164757
HP:0002863HP:0002863Myelodysplasia0BRCA1 CL E G H67284ORPHA028241100113705
HP:0002863HP:0002863Myelodysplasia0BRCA2 CL E G H67584ORPHA030251101600185
HP:0002863HP:0002863Myelodysplasia0BRIP1 CL E G H8399084ORPHA020220473605882
HP:0002863HP:0002863Myelodysplasia0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0201148602452
HP:0002863HP:0002863Myelodysplasia0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0291149602860
HP:0002863HP:0002863Myelodysplasia0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA061151603719
HP:0002863HP:0002863Myelodysplasia0CALR CL E G H8113318ORPHA051455109091
HP:0002863HP:0002863Myelodysplasia0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0530794607951
HP:0002863HP:0002863Myelodysplasia0DNAJC21 CL E G H134218811Balo diseaseORPHA01127030617048
HP:0002863HP:0002863Myelodysplasia0EFL1 CL E G H79631811Balo diseaseORPHA0325789617538
HP:0002863HP:0002863Myelodysplasia0ERCC4 CL E G H207284ORPHA0723436133520
HP:0002863HP:0002863Myelodysplasia0FANCA CL E G H217584ORPHA06893582607139
HP:0002863HP:0002863Myelodysplasia0FANCB CL E G H218784ORPHA0213583300515
HP:0002863HP:0002863Myelodysplasia0FANCC CL E G H217684ORPHA0653584613899
HP:0002863HP:0002863Myelodysplasia0FANCD2 CL E G H217784ORPHA0643585613984
HP:0002863HP:0002863Myelodysplasia0FANCE CL E G H217884ORPHA0173586613976
HP:0002863HP:0002863Myelodysplasia0FANCF CL E G H218884ORPHA0163587613897
HP:0002863HP:0002863Myelodysplasia0FANCG CL E G H218984ORPHA0923588602956
HP:0002863HP:0002863Myelodysplasia0FANCI CL E G H5521584ORPHA04525568611360
HP:0002863HP:0002863Myelodysplasia0FANCL CL E G H5512084ORPHA02420748608111
HP:0002863HP:0002863Myelodysplasia0FANCM CL E G H5769784ORPHA05323168609644
HP:0002863HP:0002863Myelodysplasia0JAK2 CL E G H37173318ORPHA0266192147796
HP:0002863HP:0002863Myelodysplasia0JAK2 CL E G H371771493ORPHA0266192147796
HP:0002863HP:0002863Myelodysplasia0MAD2L2 CL E G H1045984ORPHA016764604094
HP:0002863HP:0002863Myelodysplasia0MPL CL E G H435271493ORPHA0577217159530
HP:0002863HP:0002863Myelodysplasia0MPL CL E G H43523318ORPHA0577217159530
HP:0002863HP:0002863Myelodysplasia0PALB2 CL E G H7972884ORPHA041726144610355
HP:0002863HP:0002863Myelodysplasia0PIGA CL E G H5277447ORPHA0298957311770
HP:0002863HP:0002863Myelodysplasia0PTPN11 CL E G H5781500ORPHA01439644176876
HP:0002863HP:0002863Myelodysplasia0RAD51 CL E G H588884ORPHA0169817179617
HP:0002863HP:0002863Myelodysplasia0RAD51C CL E G H588984ORPHA01319820602774
HP:0002863HP:0002863Myelodysplasia0RAF1 CL E G H5894500ORPHA0549829164760
HP:0002863HP:0002863Myelodysplasia0RECQL4 CL E G H9401221016ORPHA01229949603780
HP:0002863HP:0002863Myelodysplasia0RFWD3 CL E G H5515984ORPHA0225539614151
HP:0002863HP:0002863Myelodysplasia0RFWD3 CL E G H55159617784FANCONI ANEMIA, COMPLEMENTATION GROUP W617784C4521564OMIM0225539614151
HP:0002863HP:0002863Myelodysplasia0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM0271348610456
HP:0002863HP:0002863Myelodysplasia0SBDS CL E G H51119811Balo diseaseORPHA09019440607444
HP:0002863HP:0002863Myelodysplasia0SH2B3 CL E G H100193318ORPHA01629605605093
HP:0002863HP:0002863Myelodysplasia0SLX4 CL E G H8446484ORPHA07223845613278
HP:0002863HP:0002863Myelodysplasia0SRP54 CL E G H6729811Balo diseaseORPHA0311301604857
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H547903318ORPHA01225941612839
HP:0002863HP:0002863Myelodysplasia0THPO CL E G H706671493ORPHA01511795600044
HP:0002863HP:0002863Myelodysplasia0TP53 CL E G H71573318ORPHA054111998191170
HP:0002863HP:0002863Myelodysplasia0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0212307604507
HP:0002863HP:0002863Myelodysplasia0UBE2T CL E G H2908984ORPHA0725009610538
HP:0002863HP:0002863Myelodysplasia0XRCC2 CL E G H751684ORPHA02312829600375
HP:0002863HP:0002863Myelodysplasia1ATRX CL E G H546231401ORPHA0170886300032
HP:0002863HP:0002863Myelodysplasia1BRAF CL E G H673500ORPHA0681097164757
HP:0002863HP:0002863Myelodysplasia1BRCA1 CL E G H67284ORPHA028241100113705
HP:0002863HP:0002863Myelodysplasia1BRCA2 CL E G H67584ORPHA030251101600185
HP:0002863HP:0002863Myelodysplasia1BRIP1 CL E G H8399084ORPHA020220473605882
HP:0002863HP:0002863Myelodysplasia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0201148602452
HP:0002863HP:0002863Myelodysplasia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0291149602860
HP:0002863HP:0002863Myelodysplasia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA061151603719
HP:0002863HP:0002863Myelodysplasia1CALR CL E G H8113318ORPHA051455109091
HP:0002863HP:0002863Myelodysplasia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0530794607951
HP:0002863HP:0002863Myelodysplasia1DNAJC21 CL E G H134218811Balo diseaseORPHA01127030617048
HP:0002863HP:0002863Myelodysplasia1EFL1 CL E G H79631811Balo diseaseORPHA0325789617538
HP:0002863HP:0002863Myelodysplasia1ERCC4 CL E G H207284ORPHA0723436133520
HP:0002863HP:0002863Myelodysplasia1FANCA CL E G H217584ORPHA06893582607139
HP:0002863HP:0002863Myelodysplasia1FANCB CL E G H218784ORPHA0213583300515
HP:0002863HP:0002863Myelodysplasia1FANCC CL E G H217684ORPHA0653584613899
HP:0002863HP:0002863Myelodysplasia1FANCD2 CL E G H217784ORPHA0643585613984
HP:0002863HP:0002863Myelodysplasia1FANCE CL E G H217884ORPHA0173586613976
HP:0002863HP:0002863Myelodysplasia1FANCF CL E G H218884ORPHA0163587613897
HP:0002863HP:0002863Myelodysplasia1FANCG CL E G H218984ORPHA0923588602956
HP:0002863HP:0002863Myelodysplasia1FANCI CL E G H5521584ORPHA04525568611360
HP:0002863HP:0002863Myelodysplasia1FANCL CL E G H5512084ORPHA02420748608111
HP:0002863HP:0002863Myelodysplasia1FANCM CL E G H5769784ORPHA05323168609644
HP:0002863HP:0002863Myelodysplasia1JAK2 CL E G H37173318ORPHA0266192147796
HP:0002863HP:0002863Myelodysplasia1JAK2 CL E G H371771493ORPHA0266192147796
HP:0002863HP:0002863Myelodysplasia1MAD2L2 CL E G H1045984ORPHA016764604094
HP:0002863HP:0002863Myelodysplasia1MPL CL E G H43523318ORPHA0577217159530
HP:0002863HP:0002863Myelodysplasia1MPL CL E G H435271493ORPHA0577217159530
HP:0002863HP:0002863Myelodysplasia1PALB2 CL E G H7972884ORPHA041726144610355
HP:0002863HP:0002863Myelodysplasia1PIGA CL E G H5277447ORPHA0298957311770
HP:0002863HP:0002863Myelodysplasia1PTPN11 CL E G H5781500ORPHA01439644176876
HP:0002863HP:0002863Myelodysplasia1RAD51 CL E G H588884ORPHA0169817179617
HP:0002863HP:0002863Myelodysplasia1RAD51C CL E G H588984ORPHA01319820602774
HP:0002863HP:0002863Myelodysplasia1RAF1 CL E G H5894500ORPHA0549829164760
HP:0002863HP:0002863Myelodysplasia1RECQL4 CL E G H9401221016ORPHA01229949603780
HP:0002863HP:0002863Myelodysplasia1RFWD3 CL E G H5515984ORPHA0225539614151
HP:0002863HP:0002863Myelodysplasia1RFWD3 CL E G H55159617784FANCONI ANEMIA, COMPLEMENTATION GROUP W617784C4521564OMIM0225539614151
HP:0002863HP:0002863Myelodysplasia1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM0271348610456
HP:0002863HP:0002863Myelodysplasia1SBDS CL E G H51119811Balo diseaseORPHA09019440607444
HP:0002863HP:0002863Myelodysplasia1SH2B3 CL E G H100193318ORPHA01629605605093
HP:0002863HP:0002863Myelodysplasia1SLX4 CL E G H8446484ORPHA07223845613278
HP:0002863HP:0002863Myelodysplasia1SRP54 CL E G H6729811Balo diseaseORPHA0311301604857
HP:0002863HP:0002863Myelodysplasia1TET2 CL E G H547903318ORPHA01225941612839
HP:0002863HP:0002863Myelodysplasia1THPO CL E G H706671493ORPHA01511795600044
HP:0002863HP:0002863Myelodysplasia1TP53 CL E G H71573318ORPHA054111998191170
HP:0002863HP:0002863Myelodysplasia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0212307604507
HP:0002863HP:0002863Myelodysplasia1UBE2T CL E G H2908984ORPHA0725009610538
HP:0002863HP:0002863Myelodysplasia1XRCC2 CL E G H751684ORPHA02312829600375
HP:0002863HP:0002863Myelodysplasia2ATRX CL E G H546231401ORPHA0170886300032
HP:0002863HP:0002863Myelodysplasia2BRAF CL E G H673500ORPHA0681097164757
HP:0002863HP:0002863Myelodysplasia2BRCA1 CL E G H67284ORPHA028241100113705
HP:0002863HP:0002863Myelodysplasia2BRCA2 CL E G H67584ORPHA030251101600185
HP:0002863HP:0002863Myelodysplasia2BRIP1 CL E G H8399084ORPHA020220473605882
HP:0002863HP:0002863Myelodysplasia2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0201148602452
HP:0002863HP:0002863Myelodysplasia2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0291149602860
HP:0002863HP:0002863Myelodysplasia2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA061151603719
HP:0002863HP:0002863Myelodysplasia2CALR CL E G H8113318ORPHA051455109091
HP:0002863HP:0002863Myelodysplasia2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0530794607951
HP:0002863HP:0002863Myelodysplasia2DNAJC21 CL E G H134218811Balo diseaseORPHA01127030617048
HP:0002863HP:0002863Myelodysplasia2EFL1 CL E G H79631811Balo diseaseORPHA0325789617538
HP:0002863HP:0002863Myelodysplasia2ERCC4 CL E G H207284ORPHA0723436133520
HP:0002863HP:0002863Myelodysplasia2FANCA CL E G H217584ORPHA06893582607139
HP:0002863HP:0002863Myelodysplasia2FANCB CL E G H218784ORPHA0213583300515
HP:0002863HP:0002863Myelodysplasia2FANCC CL E G H217684ORPHA0653584613899
HP:0002863HP:0002863Myelodysplasia2FANCD2 CL E G H217784ORPHA0643585613984
HP:0002863HP:0002863Myelodysplasia2FANCE CL E G H217884ORPHA0173586613976
HP:0002863HP:0002863Myelodysplasia2FANCF CL E G H218884ORPHA0163587613897
HP:0002863HP:0002863Myelodysplasia2FANCG CL E G H218984ORPHA0923588602956
HP:0002863HP:0002863Myelodysplasia2FANCI CL E G H5521584ORPHA04525568611360
HP:0002863HP:0002863Myelodysplasia2FANCL CL E G H5512084ORPHA02420748608111
HP:0002863HP:0002863Myelodysplasia2FANCM CL E G H5769784ORPHA05323168609644
HP:0002863HP:0002863Myelodysplasia2JAK2 CL E G H37173318ORPHA0266192147796
HP:0002863HP:0002863Myelodysplasia2JAK2 CL E G H371771493ORPHA0266192147796
HP:0002863HP:0002863Myelodysplasia2MAD2L2 CL E G H1045984ORPHA016764604094
HP:0002863HP:0002863Myelodysplasia2MPL CL E G H43523318ORPHA0577217159530
HP:0002863HP:0002863Myelodysplasia2MPL CL E G H435271493ORPHA0577217159530
HP:0002863HP:0002863Myelodysplasia2PALB2 CL E G H7972884ORPHA041726144610355
HP:0002863HP:0002863Myelodysplasia2PIGA CL E G H5277447ORPHA0298957311770
HP:0002863HP:0002863Myelodysplasia2PTPN11 CL E G H5781500ORPHA01439644176876
HP:0002863HP:0002863Myelodysplasia2RAD51 CL E G H588884ORPHA0169817179617
HP:0002863HP:0002863Myelodysplasia2RAD51C CL E G H588984ORPHA01319820602774
HP:0002863HP:0002863Myelodysplasia2RAF1 CL E G H5894500ORPHA0549829164760
HP:0002863HP:0002863Myelodysplasia2RECQL4 CL E G H9401221016ORPHA01229949603780
HP:0002863HP:0002863Myelodysplasia2RFWD3 CL E G H5515984ORPHA0225539614151
HP:0002863HP:0002863Myelodysplasia2RFWD3 CL E G H55159617784FANCONI ANEMIA, COMPLEMENTATION GROUP W617784C4521564OMIM0225539614151
HP:0002863HP:0002863Myelodysplasia2SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM0271348610456
HP:0002863HP:0002863Myelodysplasia2SBDS CL E G H51119811Balo diseaseORPHA09019440607444
HP:0002863HP:0002863Myelodysplasia2SH2B3 CL E G H100193318ORPHA01629605605093
HP:0002863HP:0002863Myelodysplasia2SLX4 CL E G H8446484ORPHA07223845613278
HP:0002863HP:0002863Myelodysplasia2SRP54 CL E G H6729811Balo diseaseORPHA0311301604857
HP:0002863HP:0002863Myelodysplasia2TET2 CL E G H547903318ORPHA01225941612839
HP:0002863HP:0002863Myelodysplasia2THPO CL E G H706671493ORPHA01511795600044
HP:0002863HP:0002863Myelodysplasia2TP53 CL E G H71573318ORPHA054111998191170
HP:0002863HP:0002863Myelodysplasia2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0212307604507
HP:0002863HP:0002863Myelodysplasia2UBE2T CL E G H2908984ORPHA0725009610538
HP:0002863HP:0002863Myelodysplasia2XRCC2 CL E G H751684ORPHA02312829600375


Genes (64) :ASXL1 ATRX BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CALR CEP57 DKC1 DNAJC21 EFL1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GATA2 GFI1B GINS1 HAX1 HSPA9 JAK2 KIT LIG4 MAD2L2 MPL NBEAL2 PALB2 PIGA PTPN11 RAD51 RAD51C RAF1 RECQL4 RFWD3 RPS14 RPS19 RUNX1 SAMD9 SBDS SF3B1 SH2B3 SLX4 SMARCD2 SRP54 SRP72 TERC TERT TET2 THPO TINF2 TP53 TRIP13 UBE2T XRCC2

Diseases (31) :614286 231401 300448 500 84 1052 3318 305000 811 260400 614082 614172 614038 721 617827 610738 71493 729 98849 606593 447 221016 617784 153550 105650 601399 617053 617475 614675 127550 182170
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.