Human Phenotype Ontology 
Grandparent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Hematological neoplasm (HP:0004377)help
..Starting node
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002863HP:0002863Myelodysplasia0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0002863HP:0002863Myelodysplasia0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0002863HP:0002863Myelodysplasia0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0002863HP:0002863Myelodysplasia0ASXL1 CL E G H17102318318OMIM:614286Myelodysplastic syndrome.145
HP:0002863HP:0002863Myelodysplasia0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0002863HP:0002863Myelodysplasia0ATRX CL E G H546886OMIM:300448ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS169
HP:0002863HP:0002863Myelodysplasia0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040283 - Occasional169
HP:0002863HP:0002863Myelodysplasia0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0002863HP:0002863Myelodysplasia0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0002863HP:0002863Myelodysplasia0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0002863HP:0002863Myelodysplasia0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0002863HP:0002863Myelodysplasia0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0002863HP:0002863Myelodysplasia0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0002863HP:0002863Myelodysplasia0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0002863HP:0002863Myelodysplasia0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0002863HP:0002863Myelodysplasia0CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0002863HP:0002863Myelodysplasia0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0002863HP:0002863Myelodysplasia0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0002863HP:0002863Myelodysplasia0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0002863HP:0002863Myelodysplasia0CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary.34
HP:0002863HP:0002863Myelodysplasia0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0002863HP:0002863Myelodysplasia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0002863HP:0002863Myelodysplasia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0002863HP:0002863Myelodysplasia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0002863HP:0002863Myelodysplasia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent1
HP:0002863HP:0002863Myelodysplasia0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0002863HP:0002863Myelodysplasia0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0002863HP:0002863Myelodysplasia0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0002863HP:0002863Myelodysplasia0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0002863HP:0002863Myelodysplasia0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0002863HP:0002863Myelodysplasia0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0002863HP:0002863Myelodysplasia0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0002863HP:0002863Myelodysplasia0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0002863HP:0002863Myelodysplasia0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0002863HP:0002863Myelodysplasia0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0002863HP:0002863Myelodysplasia0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0002863HP:0002863Myelodysplasia0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0002863HP:0002863Myelodysplasia0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0002863HP:0002863Myelodysplasia0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0002863HP:0002863Myelodysplasia0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0002863HP:0002863Myelodysplasia0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21.137
HP:0002863HP:0002863Myelodysplasia0GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia.137
HP:0002863HP:0002863Myelodysplasia0GATA2 CL E G H26244171OMIM:614286Myelodysplastic syndrome.137
HP:0002863HP:0002863Myelodysplasia0GATA2 CL E G H26244171ORPHA:98827Unclassified myelodysplastic syndromeHP:0040281 - Very frequent137
HP:0002863HP:0002863Myelodysplasia0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0002863HP:0002863Myelodysplasia0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0002863HP:0002863Myelodysplasia0GNB1 CL E G H27824396OMIM:614286Myelodysplastic syndrome.12
HP:0002863HP:0002863Myelodysplasia0H4C9 CL E G H82944793OMIM:619951
HP:0002863HP:0002863Myelodysplasia0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0002863HP:0002863Myelodysplasia0HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0002863HP:0002863Myelodysplasia0HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0002863HP:0002863Myelodysplasia0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional57
HP:0002863HP:0002863Myelodysplasia0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional57
HP:0002863HP:0002863Myelodysplasia0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0002863HP:0002863Myelodysplasia0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0002863HP:0002863Myelodysplasia0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0002863HP:0002863Myelodysplasia0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0002863HP:0002863Myelodysplasia0MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional97
HP:0002863HP:0002863Myelodysplasia0MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional97
HP:0002863HP:0002863Myelodysplasia0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0002863HP:0002863Myelodysplasia0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0002863HP:0002863Myelodysplasia0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0002863HP:0002863Myelodysplasia0NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndromeHP:0040282 - Frequent127
HP:0002863HP:0002863Myelodysplasia0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0002863HP:0002863Myelodysplasia0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0002863HP:0002863Myelodysplasia0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0002863HP:0002863Myelodysplasia0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0002863HP:0002863Myelodysplasia0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0002863HP:0002863Myelodysplasia0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0002863HP:0002863Myelodysplasia0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0002863HP:0002863Myelodysplasia0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0002863HP:0002863Myelodysplasia0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0002863HP:0002863Myelodysplasia0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002863HP:0002863Myelodysplasia0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0002863HP:0002863Myelodysplasia0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0002863HP:0002863Myelodysplasia0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0002863HP:0002863Myelodysplasia0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0002863HP:0002863Myelodysplasia0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0002863HP:0002863Myelodysplasia0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0002863HP:0002863Myelodysplasia0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0002863HP:0002863Myelodysplasia0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0002863HP:0002863Myelodysplasia0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0002863HP:0002863Myelodysplasia0RPS14 CL E G H620810387OMIM:153550Chromosome 5q deletion syndrome.
HP:0002863HP:0002863Myelodysplasia0RPS14 CL E G H620810387ORPHA:86841Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormalityHP:0040281 - Very frequent
HP:0002863HP:0002863Myelodysplasia0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0002863HP:0002863Myelodysplasia0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0002863HP:0002863Myelodysplasia0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0002863HP:0002863Myelodysplasia0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0002863HP:0002863Myelodysplasia0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0002863HP:0002863Myelodysplasia0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0002863HP:0002863Myelodysplasia0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0002863HP:0002863Myelodysplasia0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0002863HP:0002863Myelodysplasia0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy.181
HP:0002863HP:0002863Myelodysplasia0SAMD9 CL E G H548091348OMIM:617053Mirage syndromeHP:0040283 - Occasional8
HP:0002863HP:0002863Myelodysplasia0SAMD9 CL E G H548091348OMIM:619041MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS28
HP:0002863HP:0002863Myelodysplasia0SAMD9L CL E G H2192851349OMIM:252270Myelodysplasia and leukemia syndrome with monosomy 74
HP:0002863HP:0002863Myelodysplasia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent26
HP:0002863HP:0002863Myelodysplasia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0002863HP:0002863Myelodysplasia0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional19
HP:0002863HP:0002863Myelodysplasia0SF3B1 CL E G H2345110768OMIM:614286Myelodysplastic syndrome.19
HP:0002863HP:0002863Myelodysplasia0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional4
HP:0002863HP:0002863Myelodysplasia0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0002863HP:0002863Myelodysplasia0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0002863HP:0002863Myelodysplasia0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional
HP:0002863HP:0002863Myelodysplasia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent
HP:0002863HP:0002863Myelodysplasia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0002863HP:0002863Myelodysplasia0SRP72 CL E G H673111303OMIM:614675Bone marrow failure syndrome 1.68
HP:0002863HP:0002863Myelodysplasia0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional82
HP:0002863HP:0002863Myelodysplasia0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0002863HP:0002863Myelodysplasia0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0002863HP:0002863Myelodysplasia0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional3
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional3
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H5479025941OMIM:614286Myelodysplastic syndrome.3
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H5479025941ORPHA:98826Refractory anemiaHP:0040281 - Very frequent3
HP:0002863HP:0002863Myelodysplasia0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0002863HP:0002863Myelodysplasia0THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional23
HP:0002863HP:0002863Myelodysplasia0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0002863HP:0002863Myelodysplasia0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional911
HP:0002863HP:0002863Myelodysplasia0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0002863HP:0002863Myelodysplasia0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0002863HP:0002863Myelodysplasia0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0002863HP:0002863Myelodysplasia0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0002863HP:0002863Myelodysplasia0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0002863HP:0002863Myelodysplasia0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0002863HP:0012149Bilineage myelodysplasia1 CL E G H
HP:0002863HP:0012150Single lineage myelodysplasia1ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0002863HP:0012148Multiple lineage myelodysplasia1GATA2 CL E G H26244171ORPHA:98827Unclassified myelodysplastic syndromeHP:0040282 - Frequent137
HP:0002863HP:0012150Single lineage myelodysplasia1HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0002863HP:0012150Single lineage myelodysplasia1HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0002863HP:0012148Multiple lineage myelodysplasia1RPS14 CL E G H620810387ORPHA:86841Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormalityHP:0040283 - Occasional
HP:0002863HP:0012150Single lineage myelodysplasia1SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemia19
HP:0002863HP:0012150Single lineage myelodysplasia1TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemia3
HP:0002863HP:0012150Single lineage myelodysplasia1TET2 CL E G H5479025941ORPHA:98826Refractory anemiaHP:0040282 - Frequent3
HP:0002863HP:0004828Refractory anemia with ringed sideroblasts2ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0002863HP:0004828Refractory anemia with ringed sideroblasts2HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0002863HP:0004828Refractory anemia with ringed sideroblasts2HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0002863HP:0004828Refractory anemia with ringed sideroblasts2SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040281 - Very frequent19
HP:0002863HP:0004828Refractory anemia with ringed sideroblasts2TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040281 - Very frequent3


Genes (107) :ADA2 ADH5 ANAPC1 ASXL1 ATRX BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CALR CDKN2A CEP57 CHEK2 CLPB CSF3R DDX41 DKC1 DNAJC21 EFL1 ELANE ERBB3 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GATA1 GATA2 GFI1 GINS1 GNB1 H4C9 HAX1 HSCB HSPA9 JAK2 KIT LIG4 MAD2L2 MDM2 MPL MYSM1 NAGS NBEAL2 NF1 PALB2 PTPN11 RAD51 RAD51C RAF1 RECQL4 RFWD3 RPA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SBDS SF3B1 SH2B3 SLX4 SMARCD2 SRP54 SRP72 SRSF2 TCIRG1 TERC TERT TET2 THPO TINF2 TP53 TRIP13 TSR2 UBA1 UBE2T XRCC2

Diseases (53) :ORPHA:124 OMIM:619151 ORPHA:221008 OMIM:614286 ORPHA:98849 OMIM:300448 ORPHA:231401 ORPHA:125 ORPHA:500 ORPHA:84 ORPHA:1052 ORPHA:3318 ORPHA:524 ORPHA:486 OMIM:162830 OMIM:616871 OMIM:305000 ORPHA:811 OMIM:260400 OMIM:133180 OMIM:614082 OMIM:614172 OMIM:614038 ORPHA:98827 OMIM:617827 OMIM:619951 OMIM:610738 OMIM:619523 OMIM:182170 ORPHA:71493 ORPHA:729 OMIM:606593 ORPHA:508542 ORPHA:927 ORPHA:721 ORPHA:97685 ORPHA:221016 OMIM:617784 OMIM:619767 OMIM:153550 ORPHA:86841 OMIM:105650 OMIM:601399 OMIM:617053 OMIM:619041 OMIM:252270 ORPHA:75564 OMIM:617475 OMIM:614675 OMIM:127550 OMIM:614742 ORPHA:98826 OMIM:301054
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.