Human Phenotype Ontology 
Grandparent Node:
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Abnormality of bone marrow cell morphology (HP:0005561)help
Parent Node:
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Abnormality of multiple cell lineages in the bone marrow (HP:0012145)help
..Starting node
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Pancytopenia (HP:0001876)help
Term ID: 1876
Name: Pancytopenia
Synonym: Low blood cell count; Pancytopaenia
Definition: An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Comments:
Reference: HP:0001876
Genes and Diseases:
 
       Child Nodes:
........expandAplastic anemia (HP:0001915) help

 Sister Nodes: 
..expandBone marrow hypercellularity (HP:0031020) help
..expandBone marrow hypocellularity (HP:0005528) help
..expandMegaloblastic bone marrow (HP:0001980) help
..expandMyelofibrosis (HP:0011974) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001876HP:0001876Pancytopenia0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0001876HP:0001876Pancytopenia0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0001876HP:0001876Pancytopenia0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM129718621606977
HP:0001876HP:0001876Pancytopenia0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM128118621606977
HP:0001876HP:0001876Pancytopenia0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0001876HP:0001876Pancytopenia0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0001876HP:0001876Pancytopenia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM13432861126060
HP:0001876HP:0001876Pancytopenia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM12772861126060
HP:0001876HP:0001876Pancytopenia0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0001876HP:0001876Pancytopenia0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0001876HP:0001876Pancytopenia0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001876HP:0001876Pancytopenia0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001876HP:0001876Pancytopenia0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM118727030617048
HP:0001876HP:0001876Pancytopenia0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM19127030617048
HP:0001876HP:0001876Pancytopenia0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM131463582607139
HP:0001876HP:0001876Pancytopenia0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM126583582607139
HP:0001876HP:0001876Pancytopenia0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM111753584613899
HP:0001876HP:0001876Pancytopenia0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM110793584613899
HP:0001876HP:0001876Pancytopenia0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM18643585613984
HP:0001876HP:0001876Pancytopenia0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM17293585613984
HP:0001876HP:0001876Pancytopenia0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM13603586613976
HP:0001876HP:0001876Pancytopenia0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM12813586613976
HP:0001876HP:0001876Pancytopenia0GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM19884171137295
HP:0001876HP:0001876Pancytopenia0GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM18494171137295
HP:0001876HP:0001876Pancytopenia0GBA CL E G H262977259ORPHA12694177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H262985212ORPHA12694177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H262977261ORPHA12694177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H262977259ORPHA12614177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H262985212ORPHA12614177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H262977261ORPHA12614177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM12694177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM12614177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12694177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12614177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12694177606463
HP:0001876HP:0001876Pancytopenia0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12614177606463
HP:0001876HP:0001876Pancytopenia0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM13136171186973
HP:0001876HP:0001876Pancytopenia0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM12626171186973
HP:0001876HP:0001876Pancytopenia0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM14156186607036
HP:0001876HP:0001876Pancytopenia0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM13806186607036
HP:0001876HP:0001876Pancytopenia0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM13416407190070
HP:0001876HP:0001876Pancytopenia0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM13316407190070
HP:0001876HP:0001876Pancytopenia0LIG4 CL E G H398199812ORPHA14676601601837
HP:0001876HP:0001876Pancytopenia0LIG4 CL E G H398199812ORPHA13886601601837
HP:0001876HP:0001876Pancytopenia0LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM14676601601837
HP:0001876HP:0001876Pancytopenia0LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM13886601601837
HP:0001876HP:0001876Pancytopenia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM119323038612625
HP:0001876HP:0001876Pancytopenia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM115723038612625
HP:0001876HP:0001876Pancytopenia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM135918871607481
HP:0001876HP:0001876Pancytopenia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM133518871607481
HP:0001876HP:0001876Pancytopenia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM137519331607568
HP:0001876HP:0001876Pancytopenia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM135719331607568
HP:0001876HP:0001876Pancytopenia0MPL CL E G H4352604498Congenital amegakaryocytic thrombocytopenia604498C1327915OMIM13677217159530
HP:0001876HP:0001876Pancytopenia0MPL CL E G H4352604498Congenital amegakaryocytic thrombocytopenia604498C1327915OMIM13147217159530
HP:0001876HP:0001876Pancytopenia0MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM11667432172460
HP:0001876HP:0001876Pancytopenia0MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM1647432172460
HP:0001876HP:0001876Pancytopenia0NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM113614377606470
HP:0001876HP:0001876Pancytopenia0NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM111314377606470
HP:0001876HP:0001876Pancytopenia0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM140916412606831
HP:0001876HP:0001876Pancytopenia0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM132116412606831
HP:0001876HP:0001876Pancytopenia0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12267989164790
HP:0001876HP:0001876Pancytopenia0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12127989164790
HP:0001876HP:0001876Pancytopenia0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM119121652607649
HP:0001876HP:0001876Pancytopenia0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM114621652607649
HP:0001876HP:0001876Pancytopenia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17498653232000
HP:0001876HP:0001876Pancytopenia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16068653232000
HP:0001876HP:0001876Pancytopenia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16188654232050
HP:0001876HP:0001876Pancytopenia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM14808654232050
HP:0001876HP:0001876Pancytopenia0RAB27A CL E G H587379477ORPHA12289766603868
HP:0001876HP:0001876Pancytopenia0RAB27A CL E G H587379477ORPHA12049766603868
HP:0001876HP:0001876Pancytopenia0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM125918518606034
HP:0001876HP:0001876Pancytopenia0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM118618518606034
HP:0001876HP:0001876Pancytopenia0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM12901349611170
HP:0001876HP:0001876Pancytopenia0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM11381349611170
HP:0001876HP:0001876Pancytopenia0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18919440607444
HP:0001876HP:0001876Pancytopenia0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18219440607444
HP:0001876HP:0001876Pancytopenia0SCARB2 CL E G H95077259ORPHA13761665602257
HP:0001876HP:0001876Pancytopenia0SCARB2 CL E G H95077259ORPHA13281665602257
HP:0001876HP:0001876Pancytopenia0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM127810820300490
HP:0001876HP:0001876Pancytopenia0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM126110820300490
HP:0001876HP:0001876Pancytopenia0SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM1141323845613278
HP:0001876HP:0001876Pancytopenia0SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM1109723845613278
HP:0001876HP:0001876Pancytopenia0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM19711301604857
HP:0001876HP:0001876Pancytopenia0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM17111301604857
HP:0001876HP:0001876Pancytopenia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM110526200613128
HP:0001876HP:0001876Pancytopenia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM14226200613128
HP:0001876HP:0001876Pancytopenia0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM111611559602063
HP:0001876HP:0001876Pancytopenia0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM19611559602063
HP:0001876HP:0001876Pancytopenia0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM167411647604592
HP:0001876HP:0001876Pancytopenia0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM154411647604592
HP:0001876HP:0001876Pancytopenia0TCN2 CL E G H6948859ORPHA135111653613441
HP:0001876HP:0001876Pancytopenia0TCN2 CL E G H6948859ORPHA129311653613441
HP:0001876HP:0001876Pancytopenia0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM135111653613441
HP:0001876HP:0001876Pancytopenia0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM129311653613441
HP:0001876HP:0001876Pancytopenia0TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM131411918600315
HP:0001876HP:0001876Pancytopenia0TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM125911918600315
HP:0001876HP:0001876Pancytopenia0TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM116611926602642
HP:0001876HP:0001876Pancytopenia0TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM112911926602642
HP:0001876HP:0001876Pancytopenia0UBE2T CL E G H29089616435Fanconi anemia, complementation group T616435C4084840OMIM12825009610538
HP:0001876HP:0001876Pancytopenia0UBE2T CL E G H29089616435Fanconi anemia, complementation group T616435C4084840OMIM12525009610538
HP:0001876HP:0001876Pancytopenia0WRAP53 CL E G H55135613988Dyskeratosis congenita, autosomal recessive, 3613988C3151442OMIM129725522612661
HP:0001876HP:0001876Pancytopenia0WRAP53 CL E G H55135613988Dyskeratosis congenita, autosomal recessive, 3613988C3151442OMIM118525522612661
HP:0001876HP:0001876Pancytopenia0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1431592300079
HP:0001876HP:0001876Pancytopenia0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1404592300079
HP:0001876HP:0001876Pancytopenia0XRCC4 CL E G H751899812ORPHA16812831194363
HP:0001876HP:0001876Pancytopenia0XRCC4 CL E G H751899812ORPHA15412831194363
HP:0001876HP:0001915Aplastic anemia1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0001876HP:0001915Aplastic anemia1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0001876HP:0001915Aplastic anemia1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM128118621606977
HP:0001876HP:0001915Aplastic anemia1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM129718621606977
HP:0001876HP:0001915Aplastic anemia1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0001876HP:0001915Aplastic anemia1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0001876HP:0001915Aplastic anemia1DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM12772861126060
HP:0001876HP:0001915Aplastic anemia1DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM13432861126060
HP:0001876HP:0001915Aplastic anemia1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0001876HP:0001915Aplastic anemia1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0001876HP:0001915Aplastic anemia1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001876HP:0001915Aplastic anemia1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001876HP:0001915Aplastic anemia1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM19127030617048
HP:0001876HP:0001915Aplastic anemia1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM118727030617048
HP:0001876HP:0001915Aplastic anemia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM126583582607139
HP:0001876HP:0001915Aplastic anemia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM131463582607139
HP:0001876HP:0001915Aplastic anemia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM110793584613899
HP:0001876HP:0001915Aplastic anemia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM111753584613899
HP:0001876HP:0001915Aplastic anemia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM17293585613984
HP:0001876HP:0001915Aplastic anemia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM18643585613984
HP:0001876HP:0001915Aplastic anemia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM12813586613976
HP:0001876HP:0001915Aplastic anemia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM13603586613976
HP:0001876HP:0001915Aplastic anemia1GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM18494171137295
HP:0001876HP:0001915Aplastic anemia1GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM19884171137295
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H262977259ORPHA12614177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H262985212ORPHA12614177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H262977261ORPHA12614177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H262977259ORPHA12694177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H262985212ORPHA12694177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H262977261ORPHA12694177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM12614177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM12694177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12614177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12694177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12614177606463
HP:0001876HP:0001915Aplastic anemia1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12694177606463
HP:0001876HP:0001915Aplastic anemia1ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM12626171186973
HP:0001876HP:0001915Aplastic anemia1ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM13136171186973
HP:0001876HP:0001915Aplastic anemia1IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM13806186607036
HP:0001876HP:0001915Aplastic anemia1IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM14156186607036
HP:0001876HP:0001915Aplastic anemia1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM13316407190070
HP:0001876HP:0001915Aplastic anemia1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM13416407190070
HP:0001876HP:0001915Aplastic anemia1LIG4 CL E G H398199812ORPHA13886601601837
HP:0001876HP:0001915Aplastic anemia1LIG4 CL E G H398199812ORPHA14676601601837
HP:0001876HP:0001915Aplastic anemia1LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM13886601601837
HP:0001876HP:0001915Aplastic anemia1LIG4 CL E G H3981606593Lig4 syndrome606593C1847827OMIM14676601601837
HP:0001876HP:0001915Aplastic anemia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM115723038612625
HP:0001876HP:0001915Aplastic anemia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM119323038612625
HP:0001876HP:0001915Aplastic anemia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM133518871607481
HP:0001876HP:0001915Aplastic anemia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM135918871607481
HP:0001876HP:0001915Aplastic anemia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM135719331607568
HP:0001876HP:0001915Aplastic anemia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM137519331607568
HP:0001876HP:0001915Aplastic anemia1MPL CL E G H4352604498Congenital amegakaryocytic thrombocytopenia604498C1327915OMIM13147217159530
HP:0001876HP:0001915Aplastic anemia1MPL CL E G H4352604498Congenital amegakaryocytic thrombocytopenia604498C1327915OMIM13677217159530
HP:0001876HP:0001915Aplastic anemia1MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM1647432172460
HP:0001876HP:0001915Aplastic anemia1MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM11667432172460
HP:0001876HP:0001915Aplastic anemia1NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM111314377606470
HP:0001876HP:0001915Aplastic anemia1NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM113614377606470
HP:0001876HP:0001915Aplastic anemia1NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM132116412606831
HP:0001876HP:0001915Aplastic anemia1NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM140916412606831
HP:0001876HP:0001915Aplastic anemia1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12127989164790
HP:0001876HP:0001915Aplastic anemia1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12267989164790
HP:0001876HP:0001915Aplastic anemia1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM114621652607649
HP:0001876HP:0001915Aplastic anemia1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM119121652607649
HP:0001876HP:0001915Aplastic anemia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16068653232000
HP:0001876HP:0001915Aplastic anemia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17498653232000
HP:0001876HP:0001915Aplastic anemia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM14808654232050
HP:0001876HP:0001915Aplastic anemia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16188654232050
HP:0001876HP:0001915Aplastic anemia1RAB27A CL E G H587379477ORPHA12049766603868
HP:0001876HP:0001915Aplastic anemia1RAB27A CL E G H587379477ORPHA12289766603868
HP:0001876HP:0001915Aplastic anemia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM118618518606034
HP:0001876HP:0001915Aplastic anemia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM125918518606034
HP:0001876HP:0001915Aplastic anemia1SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM11381349611170
HP:0001876HP:0001915Aplastic anemia1SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM12901349611170
HP:0001876HP:0001915Aplastic anemia1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18219440607444
HP:0001876HP:0001915Aplastic anemia1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18919440607444
HP:0001876HP:0001915Aplastic anemia1SCARB2 CL E G H95077259ORPHA13281665602257
HP:0001876HP:0001915Aplastic anemia1SCARB2 CL E G H95077259ORPHA13761665602257
HP:0001876HP:0001915Aplastic anemia1SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM126110820300490
HP:0001876HP:0001915Aplastic anemia1SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM127810820300490
HP:0001876HP:0001915Aplastic anemia1SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM1109723845613278
HP:0001876HP:0001915Aplastic anemia1SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM1141323845613278
HP:0001876HP:0001915Aplastic anemia1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM17111301604857
HP:0001876HP:0001915Aplastic anemia1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM19711301604857
HP:0001876HP:0001915Aplastic anemia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM14226200613128
HP:0001876HP:0001915Aplastic anemia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM110526200613128
HP:0001876HP:0001915Aplastic anemia1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM19611559602063
HP:0001876HP:0001915Aplastic anemia1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM111611559602063
HP:0001876HP:0001915Aplastic anemia1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM154411647604592
HP:0001876HP:0001915Aplastic anemia1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM167411647604592
HP:0001876HP:0001915Aplastic anemia1TCN2 CL E G H6948859ORPHA129311653613441
HP:0001876HP:0001915Aplastic anemia1TCN2 CL E G H6948859ORPHA135111653613441
HP:0001876HP:0001915Aplastic anemia1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM129311653613441
HP:0001876HP:0001915Aplastic anemia1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM135111653613441
HP:0001876HP:0001915Aplastic anemia1TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM125911918600315
HP:0001876HP:0001915Aplastic anemia1TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM131411918600315
HP:0001876HP:0001915Aplastic anemia1TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM112911926602642
HP:0001876HP:0001915Aplastic anemia1TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM116611926602642
HP:0001876HP:0001915Aplastic anemia1UBE2T CL E G H29089616435Fanconi anemia, complementation group T616435C4084840OMIM12525009610538
HP:0001876HP:0001915Aplastic anemia1UBE2T CL E G H29089616435Fanconi anemia, complementation group T616435C4084840OMIM12825009610538
HP:0001876HP:0001915Aplastic anemia1WRAP53 CL E G H55135613988Dyskeratosis congenita, autosomal recessive, 3613988C3151442OMIM118525522612661
HP:0001876HP:0001915Aplastic anemia1WRAP53 CL E G H55135613988Dyskeratosis congenita, autosomal recessive, 3613988C3151442OMIM129725522612661
HP:0001876HP:0001915Aplastic anemia1XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1404592300079
HP:0001876HP:0001915Aplastic anemia1XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1431592300079
HP:0001876HP:0001915Aplastic anemia1XRCC4 CL E G H751899812ORPHA15412831194363
HP:0001876HP:0001915Aplastic anemia1XRCC4 CL E G H751899812ORPHA16812831194363
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001876HP:0001876Pancytopenia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM03901839607575
HP:0001876HP:0001876Pancytopenia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM03101839607575
HP:0001876HP:0001876Pancytopenia0IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM08513176603023
HP:0001876HP:0001876Pancytopenia0IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM06913176603023
HP:0001876HP:0001876Pancytopenia0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM012531742606453
HP:0001876HP:0001876Pancytopenia0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM09861742606453
HP:0001876HP:0001876Pancytopenia0SAMD9L CL E G H2192852585ORPHA02901349611170
HP:0001876HP:0001876Pancytopenia0SAMD9L CL E G H2192852585ORPHA01381349611170
HP:0001876HP:0001876Pancytopenia0SLC46A1 CL E G H11323590045ORPHA023730521611672
HP:0001876HP:0001876Pancytopenia0SLC46A1 CL E G H11323590045ORPHA017330521611672
HP:0001876HP:0001876Pancytopenia0SP110 CL E G H343179124ORPHA03065401604457
HP:0001876HP:0001876Pancytopenia0SP110 CL E G H343179124ORPHA02475401604457
HP:0001876HP:0001915Aplastic anemia1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM03101839607575
HP:0001876HP:0001915Aplastic anemia1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM03901839607575
HP:0001876HP:0001915Aplastic anemia1IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM06913176603023
HP:0001876HP:0001915Aplastic anemia1IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM08513176603023
HP:0001876HP:0001915Aplastic anemia1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM09861742606453
HP:0001876HP:0001915Aplastic anemia1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM012531742606453
HP:0001876HP:0001915Aplastic anemia1SAMD9L CL E G H2192852585ORPHA01381349611170
HP:0001876HP:0001915Aplastic anemia1SAMD9L CL E G H2192852585ORPHA02901349611170
HP:0001876HP:0001915Aplastic anemia1SLC46A1 CL E G H11323590045ORPHA017330521611672
HP:0001876HP:0001915Aplastic anemia1SLC46A1 CL E G H11323590045ORPHA023730521611672
HP:0001876HP:0001915Aplastic anemia1SP110 CL E G H343179124ORPHA02475401604457
HP:0001876HP:0001915Aplastic anemia1SP110 CL E G H343179124ORPHA03065401604457


Genes (63) :ACD ADA2 ATR CD27 COG6 COQ2 DHFR DKC1 DNAJC21 EFL1 FANCA FANCC FANCD2 FANCE GATA2 GBA HOXA11 IKZF1 ITK IVD KRAS LIG4 LMBRD1 LRBA MMAA MMAB MPL MTHFD1 NBN NHP2 NLRC4 NOP10 NRAS OSTM1 PALB2 PCCA PCCB PIGA PRF1 RAB27A RNASEH2A SAMD9L SBDS SCARB2 SH2D1A SLC46A1 SLX4 SP110 SRP54 SRP72 STN1 TALDO1 TCIRG1 TCN2 TERC TERT TINF2 TNFRSF4 TNFSF11 UBE2T WRAP53 XIAP XRCC4

Diseases (66) :615688 210600 614576 607426 613839 305000 617052 260400 227650 227645 227646 600901 614038 77261 77259 85212 231005 230800 231000 616873 613011 243500 614470 99812 606593 277380 614700 251100 251110 604498 617780 613987 616050 259720 606054 79477 610333 2585 159550 308240 90045 613951 79124 617341 606003 259700 859 275350 615593 259710 616435 613988 616553 615122 811 614172 605432 609135 224230 610832 447 614675 127550 613990 268130 300635
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.