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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001876HP:0001876Pancytopenia0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0001876HP:0001876Pancytopenia0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040284 - Very rare16
HP:0001876HP:0001876Pancytopenia0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001876HP:0001876Pancytopenia0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss.
HP:0001876HP:0001876Pancytopenia0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0001876HP:0001876Pancytopenia0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0001876HP:0001876Pancytopenia0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0001876HP:0001876Pancytopenia0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0001876HP:0001876Pancytopenia0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001876HP:0001876Pancytopenia0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001876HP:0001876Pancytopenia0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0001876HP:0001876Pancytopenia0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001876HP:0001876Pancytopenia0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0001876HP:0001876Pancytopenia0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0001876HP:0001876Pancytopenia0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional118
HP:0001876HP:0001876Pancytopenia0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0001876HP:0001876Pancytopenia0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001876HP:0001876Pancytopenia0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0001876HP:0001876Pancytopenia0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0001876HP:0001876Pancytopenia0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0001876HP:0001876Pancytopenia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001876HP:0001876Pancytopenia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0001876HP:0001876Pancytopenia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0001876HP:0001876Pancytopenia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0001876HP:0001876Pancytopenia0DNASE2 CL E G H17772960OMIM:619858
HP:0001876HP:0001876Pancytopenia0DUT CL E G H18543078OMIM:620044
HP:0001876HP:0001876Pancytopenia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0001876HP:0001876Pancytopenia0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0001876HP:0001876Pancytopenia0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0001876HP:0001876Pancytopenia0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0001876HP:0001876Pancytopenia0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0001876HP:0001876Pancytopenia0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001876HP:0001876Pancytopenia0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0001876HP:0001876Pancytopenia0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001876HP:0001876Pancytopenia0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001876HP:0001876Pancytopenia0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21137
HP:0001876HP:0001876Pancytopenia0GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia.137
HP:0001876HP:0001876Pancytopenia0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0001876HP:0001876Pancytopenia0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent
HP:0001876HP:0001876Pancytopenia0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040282 - Frequent
HP:0001876HP:0001876Pancytopenia0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0001876HP:0001876Pancytopenia0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0001876HP:0001876Pancytopenia0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0001876HP:0001876Pancytopenia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0001876HP:0001876Pancytopenia0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0001876HP:0001876Pancytopenia0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040284 - Very rare101
HP:0001876HP:0001876Pancytopenia0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKEHP:0040284 - Very rare
HP:0001876HP:0001876Pancytopenia0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0001876HP:0001876Pancytopenia0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0001876HP:0001876Pancytopenia0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0001876HP:0001876Pancytopenia0IFNG CL E G H34585438OMIM:609135APLASTIC ANEMIA23
HP:0001876HP:0001876Pancytopenia0IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent23
HP:0001876HP:0001876Pancytopenia0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0001876HP:0001876Pancytopenia0IKZF1 CL E G H1032013176OMIM:616873IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID138
HP:0001876HP:0001876Pancytopenia0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001876HP:0001876Pancytopenia0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001876HP:0001876Pancytopenia0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0001876HP:0001876Pancytopenia0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0001876HP:0001876Pancytopenia0IVD CL E G H37126186OMIM:243500Isovaleric acidemia.105
HP:0001876HP:0001876Pancytopenia0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001876HP:0001876Pancytopenia0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0001876HP:0001876Pancytopenia0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0001876HP:0001876Pancytopenia0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0001876HP:0001876Pancytopenia0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0001876HP:0001876Pancytopenia0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001876HP:0001876Pancytopenia0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0001876HP:0001876Pancytopenia0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040284 - Very rare136
HP:0001876HP:0001876Pancytopenia0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0001876HP:0001876Pancytopenia0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001876HP:0001876Pancytopenia0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001876HP:0001876Pancytopenia0MPL CL E G H43527217OMIM:604498Amegakaryocytic thrombocytopenia, congenital.97
HP:0001876HP:0001876Pancytopenia0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001876HP:0001876Pancytopenia0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0001876HP:0001876Pancytopenia0MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.5
HP:0001876HP:0001876Pancytopenia0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040283 - Occasional88
HP:0001876HP:0001876Pancytopenia0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001876HP:0001876Pancytopenia0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2HP:0040284 - Very rare
HP:0001876HP:0001876Pancytopenia0NBN CL E G H46837652OMIM:609135APLASTIC ANEMIA706
HP:0001876HP:0001876Pancytopenia0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0001876HP:0001876Pancytopenia0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 2.27
HP:0001876HP:0001876Pancytopenia0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0001876HP:0001876Pancytopenia0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0001876HP:0001876Pancytopenia0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001876HP:0001876Pancytopenia0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0001876HP:0001876Pancytopenia0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001876HP:0001876Pancytopenia0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0001876HP:0001876Pancytopenia0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0001876HP:0001876Pancytopenia0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001876HP:0001876Pancytopenia0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001876HP:0001876Pancytopenia0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0001876HP:0001876Pancytopenia0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001876HP:0001876Pancytopenia0PRF1 CL E G H55519360OMIM:609135APLASTIC ANEMIA58
HP:0001876HP:0001876Pancytopenia0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0001876HP:0001876Pancytopenia0PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent58
HP:0001876HP:0001876Pancytopenia0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001876HP:0001876Pancytopenia0PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne.96
HP:0001876HP:0001876Pancytopenia0PTPRC CL E G H57889666OMIM:61992425
HP:0001876HP:0001876Pancytopenia0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040281 - Very frequent67
HP:0001876HP:0001876Pancytopenia0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0001876HP:0001876Pancytopenia0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001876HP:0001876Pancytopenia0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0001876HP:0001876Pancytopenia0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional38
HP:0001876HP:0001876Pancytopenia0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional26
HP:0001876HP:0001876Pancytopenia0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional34
HP:0001876HP:0001876Pancytopenia0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 4.33
HP:0001876HP:0001876Pancytopenia0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001876HP:0001876Pancytopenia0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0001876HP:0001876Pancytopenia0SAMD9 CL E G H548091348OMIM:619041MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS28
HP:0001876HP:0001876Pancytopenia0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0001876HP:0001876Pancytopenia0SAMD9L CL E G H2192851349ORPHA:2585Ataxia-pancytopenia syndromeHP:0040283 - Occasional4
HP:0001876HP:0001876Pancytopenia0SBDS CL E G H5111919440OMIM:609135APLASTIC ANEMIA26
HP:0001876HP:0001876Pancytopenia0SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent26
HP:0001876HP:0001876Pancytopenia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0001876HP:0001876Pancytopenia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0001876HP:0001876Pancytopenia0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent77
HP:0001876HP:0001876Pancytopenia0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040284 - Very rare19
HP:0001876HP:0001876Pancytopenia0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 1.37
HP:0001876HP:0001876Pancytopenia0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040283 - Occasional101
HP:0001876HP:0001876Pancytopenia0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P.274
HP:0001876HP:0001876Pancytopenia0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001876HP:0001876Pancytopenia0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0001876HP:0001876Pancytopenia0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0001876HP:0001876Pancytopenia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0001876HP:0001876Pancytopenia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0001876HP:0001876Pancytopenia0SRP72 CL E G H673111303OMIM:614675Bone marrow failure syndrome 1.68
HP:0001876HP:0001876Pancytopenia0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0001876HP:0001876Pancytopenia0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001876HP:0001876Pancytopenia0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001876HP:0001876Pancytopenia0STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 2.2
HP:0001876HP:0001876Pancytopenia0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0001876HP:0001876Pancytopenia0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001876HP:0001876Pancytopenia0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0001876HP:0001876Pancytopenia0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0001876HP:0001876Pancytopenia0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0001876HP:0001876Pancytopenia0TCN2 CL E G H694811653ORPHA:859Transcobalamin deficiencyHP:0040282 - Frequent57
HP:0001876HP:0001876Pancytopenia0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0001876HP:0001876Pancytopenia0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 148
HP:0001876HP:0001876Pancytopenia0TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent48
HP:0001876HP:0001876Pancytopenia0TERC CL E G H701211727OMIM:614743Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2.48
HP:0001876HP:0001876Pancytopenia0TERT CL E G H701511730OMIM:609135APLASTIC ANEMIA238
HP:0001876HP:0001876Pancytopenia0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0001876HP:0001876Pancytopenia0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1238
HP:0001876HP:0001876Pancytopenia0TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent238
HP:0001876HP:0001876Pancytopenia0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0001876HP:0001876Pancytopenia0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040284 - Very rare3
HP:0001876HP:0001876Pancytopenia0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0001876HP:0001876Pancytopenia0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001876HP:0001876Pancytopenia0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0001876HP:0001876Pancytopenia0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 160
HP:0001876HP:0001876Pancytopenia0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome60
HP:0001876HP:0001876Pancytopenia0TNFRSF4 CL E G H729311918OMIM:615593Immunodeficiency 162
HP:0001876HP:0001876Pancytopenia0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0001876HP:0001876Pancytopenia0UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T.2
HP:0001876HP:0001876Pancytopenia0WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 3.40
HP:0001876HP:0001876Pancytopenia0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 1.81
HP:0001876HP:0001876Pancytopenia0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2HP:0040284 - Very rare81
HP:0001876HP:0001876Pancytopenia0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9
HP:0001876HP:0001876Pancytopenia0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0001876HP:0001876Pancytopenia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001876HP:0001915Aplastic anemia1ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0001876HP:0001915Aplastic anemia1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0001876HP:0001915Aplastic anemia1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0001876HP:0001915Aplastic anemia1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0001876HP:0001915Aplastic anemia1DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0001876HP:0001915Aplastic anemia1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0001876HP:0001915Aplastic anemia1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0001876HP:0001915Aplastic anemia1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0001876HP:0001915Aplastic anemia1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0001876HP:0001915Aplastic anemia1GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21HP:0040283 - Occasional137
HP:0001876HP:0001915Aplastic anemia1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0001876HP:0001915Aplastic anemia1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0001876HP:0001915Aplastic anemia1IFNG CL E G H34585438OMIM:609135APLASTIC ANEMIA23
HP:0001876HP:0001915Aplastic anemia1NBN CL E G H46837652OMIM:609135APLASTIC ANEMIA706
HP:0001876HP:0001915Aplastic anemia1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0001876HP:0001915Aplastic anemia1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0001876HP:0001915Aplastic anemia1PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0001876HP:0001915Aplastic anemia1PRF1 CL E G H55519360OMIM:609135APLASTIC ANEMIA58
HP:0001876HP:0001915Aplastic anemia1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040284 - Very rare445
HP:0001876HP:0001915Aplastic anemia1SBDS CL E G H5111919440OMIM:609135APLASTIC ANEMIA26
HP:0001876HP:0001915Aplastic anemia1SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0001876HP:0001915Aplastic anemia1SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0001876HP:0001915Aplastic anemia1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional
HP:0001876HP:0001915Aplastic anemia1SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0001876HP:0001915Aplastic anemia1SRP72 CL E G H673111303OMIM:614675Bone marrow failure syndrome 1.68
HP:0001876HP:0001915Aplastic anemia1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional82
HP:0001876HP:0001915Aplastic anemia1TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0001876HP:0001915Aplastic anemia1TERC CL E G H701211727OMIM:614743Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2.48
HP:0001876HP:0001915Aplastic anemia1TERT CL E G H701511730OMIM:609135APLASTIC ANEMIA238
HP:0001876HP:0001915Aplastic anemia1TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0001876HP:0001915Aplastic anemia1TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0001876HP:0001915Aplastic anemia1TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0001876HP:0001915Aplastic anemia1TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0001876HP:0001915Aplastic anemia1TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0001876HP:0001915Aplastic anemia1TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0001876HP:0001915Aplastic anemia1XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0001876HP:0001915Aplastic anemia1XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2HP:0040284 - Very rare81


Genes (122) :ACD ACP5 ADA2 ALPK1 AMN ANAPC1 ASXL1 ATR BACH2 BCOR CA2 CALR CBL CD27 CIITA CLPB COG6 COQ2 CUBN DHFR DKC1 DNAJC21 DNASE2 DUT EFL1 ELANE FANCA FANCB FANCC FANCD2 FANCE FARSB FIP1L1 GATA2 GBA1 GFI1 GNAS HAVCR2 HLA-DRB1 HOXA11 IFIH1 IFNG IKZF1 IRF2BP2 ITCH ITK IVD JAK2 KRAS LIG4 LMBRD1 LRBA LYST MAN2B1 MMAA MMAB MPL MRPS7 MTHFD1 MTRR NABP1 NAXD NBN NHP2 NLRC4 NOP10 NPM1 NRAS NUMA1 OSTM1 PALB2 PCCA PCCB PIGA PML PRF1 PRKAR1A PSTPIP1 PTPRC RAB27A RAC2 RARA RECQL4 RFX5 RFXANK RFXAP RNASEH2A RPA1 RUNX1 SAMD9 SAMD9L SBDS SCARB2 SF3B1 SH2D1A SLC46A1 SLX4 SMARCAL1 SP110 SRP54 SRP72 SRSF2 STAT3 STAT5B STN1 TALDO1 TBL1XR1 TCF3 TCIRG1 TCN2 TERC TERT TET2 TINF2 TNFRSF4 TNFSF11 UBE2T WRAP53 XIAP XRCC4 ZBTB16 ZNF699

Diseases (110) :OMIM:616553 ORPHA:1855 OMIM:615688 OMIM:614979 ORPHA:35858 ORPHA:221008 ORPHA:98850 OMIM:210600 OMIM:618394 ORPHA:520 ORPHA:2785 ORPHA:824 OMIM:615122 ORPHA:572 ORPHA:486 OMIM:614576 OMIM:607426 OMIM:613839 OMIM:305000 OMIM:617052 ORPHA:811 OMIM:260400 OMIM:619858 OMIM:620044 OMIM:227650 OMIM:300514 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:613658 OMIM:614172 OMIM:614038 ORPHA:85212 ORPHA:77259 ORPHA:77261 OMIM:230800 OMIM:231000 OMIM:231005 ORPHA:2072 ORPHA:562 OMIM:618398 OMIM:181000 OMIM:605432 OMIM:615846 OMIM:609135 ORPHA:88 OMIM:618963 OMIM:616873 OMIM:613385 ORPHA:228426 OMIM:613011 OMIM:243500 OMIM:614470 ORPHA:99812 OMIM:606593 OMIM:277380 OMIM:614700 ORPHA:167 ORPHA:309288 ORPHA:309282 OMIM:251100 OMIM:251110 OMIM:604498 OMIM:617872 OMIM:617780 ORPHA:2169 OMIM:618321 OMIM:224230 OMIM:613987 OMIM:616050 OMIM:259720 OMIM:610832 OMIM:606054 ORPHA:447 OMIM:603553 OMIM:604416 OMIM:619924 ORPHA:79477 OMIM:618986 ORPHA:221016 OMIM:610333 OMIM:619767 OMIM:619041 OMIM:159550 ORPHA:2585 ORPHA:75564 OMIM:308240 ORPHA:90045 OMIM:613951 OMIM:242900 ORPHA:79124 OMIM:614675 OMIM:617341 OMIM:606003 OMIM:619824 OMIM:259700 ORPHA:859 OMIM:275350 OMIM:127550 OMIM:614743 OMIM:613989 OMIM:614742 OMIM:613990 OMIM:268130 OMIM:615593 OMIM:259710 OMIM:616435 OMIM:613988 OMIM:300635 OMIM:619488
 

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