Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of blood and blood-forming tissues (HP:0001871)help
Parent Node:
expand
Abnormal erythrocyte morphology (HP:0001877)help
..Starting node
..expand
Anemia (HP:0001903)help
Term ID: 1903
Name: Anemia
Synonym: Anaemia; Decreased hemoglobin; Low number of red blood cells or hemoglobin
Definition: A reduction in erythrocytes volume or hemoglobin concentration.
Comments:
Reference: HP:0001903
Genes and Diseases:
 
       Child Nodes:
........expandRefractory anemia (HP:0005505) help
........expandTransient erythroblastopenia (HP:0005510) help
........expandAnemia of inadequate production (HP:0010972) help
................... HP:0001895 Normochromic anemia
................... HP:0001897 Normocytic anemia
................... HP:0001908 Hypoplastic anemia
................... HP:0001924 Sideroblastic anemia
................... HP:0001931 Hypochromic anemia
................... HP:0001935 Microcytic anemia
................... HP:0001972 Macrocytic anemia
........expandAnemia due to reduced life span of red cells (HP:0011895) help
................... HP:0001878 Hemolytic anemia
................... HP:0008346 Increased red cell sickling tendency

 Sister Nodes: 
..expandAbnormal erythrocyte enzyme activity (HP:0030272) help
..expandAbnormal hematocrit (HP:0031850) help
..expandAbnormal hemoglobin (HP:0011902) help
..expandAbnormal mean corpuscular volume (HP:0025065) help
..expandAbnormal number of erythroid precursors (HP:0012131) help
..expandAbnormality of reticulocytes (HP:0004312) help
..expandAnisocytosis (HP:0011273) help
..expandBlood group antigen abnormality (HP:0010970) help
..expandDysplastic erythropoesis (HP:0012134) help
..expandIncreased hemoglobin oxygen affinity (HP:0004825) help
..expandIncreased red cell osmotic fragility (HP:0005502) help
..expandIncreased red cell osmotic resistance (HP:0005546) help
..expandPoikilocytosis (HP:0004447) help
..expandPolycythemia (HP:0001901) help
..expandReduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271) help
..expandRouleaux formation (HP:0031898) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001903HP:0001903Anemia0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001903HP:0001903Anemia0ABCA1 CL E G H19425ORPHA124035229600046
HP:0001903HP:0001903Anemia0ABCB7 CL E G H222802ORPHA1920448300135
HP:0001903HP:0001903Anemia0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001903HP:0001903Anemia0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM12621687604773
HP:0001903HP:0001903Anemia0ACD CL E G H650573322ORPHA1913525070609377
HP:0001903HP:0001903Anemia0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM13475166604638
HP:0001903HP:0001903Anemia0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0001903HP:0001903Anemia0AGXT CL E G H18993598ORPHA1211428341604285
HP:0001903HP:0001903Anemia0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0001903HP:0001903Anemia0AK2 CL E G H20433355ORPHA11987362103020
HP:0001903HP:0001903Anemia0ALAS2 CL E G H21275563ORPHA1103227397301300
HP:0001903HP:0001903Anemia0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0001903HP:0001903Anemia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0001903HP:0001903Anemia0APOA1 CL E G H335425ORPHA17776600107680
HP:0001903HP:0001903Anemia0APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001903HP:0001903Anemia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001903HP:0001903Anemia0ATP7B CL E G H540905ORPHA1938958870606882
HP:0001903HP:0001903Anemia0BCL10 CL E G H891552417ORPHA1362989603517
HP:0001903HP:0001903Anemia0BIRC3 CL E G H33052417ORPHA1119591601721
HP:0001903HP:0001903Anemia0BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0001903HP:0001903Anemia0CA2 CL E G H7602785ORPHA131761373611492
HP:0001903HP:0001903Anemia0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0001903HP:0001903Anemia0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM1121461424114010
HP:0001903HP:0001903Anemia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0001903HP:0001903Anemia0CCND1 CL E G H59529073ORPHA17101582168461
HP:0001903HP:0001903Anemia0CDCA7 CL E G H838792268ORPHA164614628609937
HP:0001903HP:0001903Anemia0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001903HP:0001903Anemia0CLCN7 CL E G H118653ORPHA11002682025602727
HP:0001903HP:0001903Anemia0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11002682025602727
HP:0001903HP:0001903Anemia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001903HP:0001903Anemia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0001903HP:0001903Anemia0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11018918621606977
HP:0001903HP:0001903Anemia0COL17A1 CL E G H130879402ORPHA11142592194113811
HP:0001903HP:0001903Anemia0COL7A1 CL E G H129479409ORPHA18286912214120120
HP:0001903HP:0001903Anemia0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0001903HP:0001903Anemia0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0001903HP:0001903Anemia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001903HP:0001903Anemia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001903HP:0001903Anemia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001903HP:0001903Anemia0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0001903HP:0001903Anemia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001903HP:0001903Anemia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001903HP:0001903Anemia0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM142714312604594
HP:0001903HP:0001903Anemia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13454426169613129
HP:0001903HP:0001903Anemia0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13454426169613129
HP:0001903HP:0001903Anemia0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0001903HP:0001903Anemia0DKC1 CL E G H17363322ORPHA1753222890300126
HP:0001903HP:0001903Anemia0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1753222890300126
HP:0001903HP:0001903Anemia0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001903HP:0001903Anemia0DNAJC21 CL E G H134218811Balo diseaseORPHA1116027030617048
HP:0001903HP:0001903Anemia0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0001903HP:0001903Anemia0DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0001903HP:0001903Anemia0EFL1 CL E G H79631811Balo diseaseORPHA135725789617538
HP:0001903HP:0001903Anemia0ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA12202283309130130
HP:0001903HP:0001903Anemia0ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM12202283309130130
HP:0001903HP:0001903Anemia0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14977003349131195
HP:0001903HP:0001903Anemia0EPO CL E G H2056617911DIAMOND-BLACKFAN ANEMIA-LIKE617911CN873436OMIM16403415133170
HP:0001903HP:0001903Anemia0ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001903HP:0001903Anemia0FAM111A CL E G H6390193325ORPHA194124725615292
HP:0001903HP:0001903Anemia0FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0001903HP:0001903Anemia0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168917063582607139
HP:0001903HP:0001903Anemia0FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001903HP:0001903Anemia0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1658823584613899
HP:0001903HP:0001903Anemia0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1644293585613984
HP:0001903HP:0001903Anemia0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1172013586613976
HP:0001903HP:0001903Anemia0FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001903HP:0001903Anemia0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM12417620748608111
HP:0001903HP:0001903Anemia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001903HP:0001903Anemia0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0001903HP:0001903Anemia0FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM1731093771136132
HP:0001903HP:0001903Anemia0FOXP1 CL E G H2708652417ORPHA1762413823605515
HP:0001903HP:0001903Anemia0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001903HP:0001903Anemia0GATA1 CL E G H2623231393ORPHA1152354170305371
HP:0001903HP:0001903Anemia0GBA CL E G H262977261ORPHA14942064177606463
HP:0001903HP:0001903Anemia0GBA CL E G H262977259ORPHA14942064177606463
HP:0001903HP:0001903Anemia0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0001903HP:0001903Anemia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0001903HP:0001903Anemia0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14942064177606463
HP:0001903HP:0001903Anemia0GCLC CL E G H272933574ORPHA111294311606857
HP:0001903HP:0001903Anemia0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001903HP:0001903Anemia0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0001903HP:0001903Anemia0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0001903HP:0001903Anemia0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0001903HP:0001903Anemia0HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0001903HP:0001903Anemia0HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0001903HP:0001903Anemia0HBB CL E G H3043231249ORPHA187110094827141900
HP:0001903HP:0001903Anemia0HBB CL E G H304346532ORPHA187110094827141900
HP:0001903HP:0001903Anemia0HBG1 CL E G H304746532ORPHA144564831142200
HP:0001903HP:0001903Anemia0HBG2 CL E G H304846532ORPHA149724832142250
HP:0001903HP:0001903Anemia0HELLS CL E G H30702268ORPHA16514861603946
HP:0001903HP:0001903Anemia0HLA-B CL E G H31063287ORPHA153174932142830
HP:0001903HP:0001903Anemia0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1601365005613898
HP:0001903HP:0001903Anemia0HPRT1 CL E G H3251510ORPHA14282725157308000
HP:0001903HP:0001903Anemia0IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0001903HP:0001903Anemia0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0001903HP:0001903Anemia0IGH CL E G H349252417ORPHA11625477146910
HP:0001903HP:0001903Anemia0IL12B CL E G H35933287ORPHA1191135970161561
HP:0001903HP:0001903Anemia0ITGA2B CL E G H3674187800Platelet-type bleeding disorder 16187800C1861195OMIM12382036138607759
HP:0001903HP:0001903Anemia0ITGB3 CL E G H3690187800Platelet-type bleeding disorder 16187800C1861195OMIM11751906156173470
HP:0001903HP:0001903Anemia0ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0001903HP:0001903Anemia0ITGB4 CL E G H369179402ORPHA1992926158147557
HP:0001903HP:0001903Anemia0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM1141796171186973
HP:0001903HP:0001903Anemia0KIF23 CL E G H949398870ORPHA13326392605064
HP:0001903HP:0001903Anemia0KLF1 CL E G H1066146532ORPHA1105766345600599
HP:0001903HP:0001903Anemia0KRT14 CL E G H386189838ORPHA11181356416148066
HP:0001903HP:0001903Anemia0LAMA3 CL E G H390979402ORPHA1554526483600805
HP:0001903HP:0001903Anemia0LAMB3 CL E G H391479402ORPHA11213776490150310
HP:0001903HP:0001903Anemia0LAMC2 CL E G H391879402ORPHA1413106493150292
HP:0001903HP:0001903Anemia0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001903HP:0001903Anemia0LIPA CL E G H398875233ORPHA1962466617613497
HP:0001903HP:0001903Anemia0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0001903HP:0001903Anemia0LYST CL E G H1130167ORPHA11028071968606897
HP:0001903HP:0001903Anemia0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001903HP:0001903Anemia0MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11546764604094
HP:0001903HP:0001903Anemia0MALT1 CL E G H1089252417ORPHA171496819604860
HP:0001903HP:0001903Anemia0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001903HP:0001903Anemia0MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM129493498165215
HP:0001903HP:0001903Anemia0MLX CL E G H69453287ORPHA111811645602976
HP:0001903HP:0001903Anemia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0001903HP:0001903Anemia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14225619331607568
HP:0001903HP:0001903Anemia0MPIG6B CL E G H80739617441Thrombocytopenia, anemia, and myelofibrosis617441C4479504OMIM151613937606520
HP:0001903HP:0001903Anemia0MPL CL E G H43523319ORPHA1571877217159530
HP:0001903HP:0001903Anemia0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001903HP:0001903Anemia0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001903HP:0001903Anemia0MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA1363287473602568
HP:0001903HP:0001903Anemia0MUC1 CL E G H4582174000Medullary cystic kidney disease 1174000C1868139OMIM13157508158340
HP:0001903HP:0001903Anemia0MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001903HP:0001903Anemia0NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0001903HP:0001903Anemia0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA139214377606470
HP:0001903HP:0001903Anemia0NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0001903HP:0001903Anemia0NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0001903HP:0001903Anemia0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0001903HP:0001903Anemia0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA116014378606471
HP:0001903HP:0001903Anemia0NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM1794037905607100
HP:0001903HP:0001903Anemia0NPHP1 CL E G H4867266900Senior-Loken syndrome 1266900C0403553OMIM1794037905607100
HP:0001903HP:0001903Anemia0NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM111865919104607215
HP:0001903HP:0001903Anemia0NPHP4 CL E G H261734606996Senior-Loken syndrome 4606996C1846979OMIM111865919104607215
HP:0001903HP:0001903Anemia0ORAI1 CL E G H848763204ORPHA11710125896610277
HP:0001903HP:0001903Anemia0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0001903HP:0001903Anemia0PARN CL E G H50733322ORPHA1291668609604212
HP:0001903HP:0001903Anemia0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1291668609604212
HP:0001903HP:0001903Anemia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0001903HP:0001903Anemia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0001903HP:0001903Anemia0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0001903HP:0001903Anemia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001903HP:0001903Anemia0PFKM CL E G H5213371Qazi Markouizos syndromeORPHA1271768877610681
HP:0001903HP:0001903Anemia0PLEC CL E G H5339158684ORPHA110427619069601282
HP:0001903HP:0001903Anemia0PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM110427619069601282
HP:0001903HP:0001903Anemia0PLEKHM1 CL E G H9842618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3618107CN253817OMIM142129017611466
HP:0001903HP:0001903Anemia0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM13118430260603287
HP:0001903HP:0001903Anemia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001903HP:0001903Anemia0PRKACG CL E G H5568616176Platelet-type bleeding disorder 19616176C4015405OMIM11589382176893
HP:0001903HP:0001903Anemia0PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM1272209498176801
HP:0001903HP:0001903Anemia0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15179541602177
HP:0001903HP:0001903Anemia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0001903HP:0001903Anemia0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15119546177045
HP:0001903HP:0001903Anemia0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1916115508608109
HP:0001903HP:0001903Anemia0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0001903HP:0001903Anemia0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0001903HP:0001903Anemia0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0001903HP:0001903Anemia0REN CL E G H5972613092Hyperuricemic nephropathy, familial juvenile, 2613092C2751310OMIM121599958179820
HP:0001903HP:0001903Anemia0RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM113110327603704
HP:0001903HP:0001903Anemia0RPL27 CL E G H6155617408Diamond-Blackfan anemia 16617408C4479424OMIM111210328607526
HP:0001903HP:0001903Anemia0RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM155210383603632
HP:0001903HP:0001903Anemia0RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM1345110414603701
HP:0001903HP:0001903Anemia0RPS27 CL E G H6232617409Diamond-Blackfan anemia 17617409C4479428OMIM111610416603702
HP:0001903HP:0001903Anemia0RTEL1 CL E G H517503322ORPHA15468415888608833
HP:0001903HP:0001903Anemia0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA15468415888608833
HP:0001903HP:0001903Anemia0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0001903HP:0001903Anemia0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001903HP:0001903Anemia0SBDS CL E G H51119811Balo diseaseORPHA1906019440607444
HP:0001903HP:0001903Anemia0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0001903HP:0001903Anemia0SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0001903HP:0001903Anemia0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0001903HP:0001903Anemia0SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM142318276609213
HP:0001903HP:0001903Anemia0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM113124010820300490
HP:0001903HP:0001903Anemia0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001903HP:0001903Anemia0SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM17281823845613278
HP:0001903HP:0001903Anemia0SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM114712576770600993
HP:0001903HP:0001903Anemia0SMAD4 CL E G H4089175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome175050C1832942OMIM114712576770600993
HP:0001903HP:0001903Anemia0SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0001903HP:0001903Anemia0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0001903HP:0001903Anemia0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001903HP:0001903Anemia0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1134614974614780
HP:0001903HP:0001903Anemia0SRP54 CL E G H6729811Balo diseaseORPHA133111301604857
HP:0001903HP:0001903Anemia0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0001903HP:0001903Anemia0STEAP3 CL E G H55240300298ORPHA113724592609671
HP:0001903HP:0001903Anemia0STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM113724592609671
HP:0001903HP:0001903Anemia0STIM1 CL E G H67863204ORPHA12524211386605921
HP:0001903HP:0001903Anemia0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM12524211386605921
HP:0001903HP:0001903Anemia0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0001903HP:0001903Anemia0TALDO1 CL E G H6888101028ORPHA1108811559602063
HP:0001903HP:0001903Anemia0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0001903HP:0001903Anemia0TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1816111582604934
HP:0001903HP:0001903Anemia0TBXAS1 CL E G H69161802DemodicidosisORPHA1139111609274180
HP:0001903HP:0001903Anemia0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001903HP:0001903Anemia0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0001903HP:0001903Anemia0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA17418411727602322
HP:0001903HP:0001903Anemia0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17418411727602322
HP:0001903HP:0001903Anemia0TERT CL E G H70153322ORPHA1173115911730187270
HP:0001903HP:0001903Anemia0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1173115911730187270
HP:0001903HP:0001903Anemia0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1173115911730187270
HP:0001903HP:0001903Anemia0TF CL E G H70181195ORPHA1279011740190000
HP:0001903HP:0001903Anemia0TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM15422911762604720
HP:0001903HP:0001903Anemia0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0001903HP:0001903Anemia0TINF2 CL E G H262773322ORPHA14216511824604319
HP:0001903HP:0001903Anemia0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14216511824604319
HP:0001903HP:0001903Anemia0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14216511824604319
HP:0001903HP:0001903Anemia0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001903HP:0001903Anemia0TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM117431628396609884
HP:0001903HP:0001903Anemia0TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0001903HP:0001903Anemia0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001903HP:0001903Anemia0TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM11611711926602642
HP:0001903HP:0001903Anemia0TP53 CL E G H7157618165BONE MARROW FAILURE SYNDROME 5618165OMIM1541203511998191170
HP:0001903HP:0001903Anemia0TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12624817341612907
HP:0001903HP:0001903Anemia0UBE2T CL E G H29089616435Fanconi anemia, complementation group T616435C4084840OMIM171825009610538
HP:0001903HP:0001903Anemia0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA1719816808605981
HP:0001903HP:0001903Anemia0UMPS CL E G H737230ORPHA11322712563613891
HP:0001903HP:0001903Anemia0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1227225792613276
HP:0001903HP:0001903Anemia0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0001903HP:0001903Anemia0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001903HP:0001903Anemia0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1712825522612661
HP:0001903HP:0001903Anemia0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM199361592300079
HP:0001903HP:0001903Anemia0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0001903HP:0001903Anemia0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11320324249610957
HP:0001903HP:0001903Anemia0ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0001903HP:0001903Anemia0ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0001903HP:0001903Anemia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001903HP:0001903Anemia1ABCA1 CL E G H19425ORPHA124035229600046
HP:0001903HP:0001903Anemia1ABCB7 CL E G H222802ORPHA1920448300135
HP:0001903HP:0001903Anemia1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001903HP:0001903Anemia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM12621687604773
HP:0001903HP:0001903Anemia1ACD CL E G H650573322ORPHA1913525070609377
HP:0001903HP:0001903Anemia1ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM13475166604638
HP:0001903HP:0001903Anemia1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0001903HP:0001903Anemia1AGXT CL E G H18993598ORPHA1211428341604285
HP:0001903HP:0001903Anemia1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0001903HP:0001903Anemia1AK2 CL E G H20433355ORPHA11987362103020
HP:0001903HP:0001903Anemia1ALAS2 CL E G H21275563ORPHA1103227397301300
HP:0001903HP:0001903Anemia1ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0001903HP:0001903Anemia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0001903HP:0001903Anemia1APOA1 CL E G H335425ORPHA17776600107680
HP:0001903HP:0001903Anemia1APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001903HP:0001903Anemia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001903HP:0001903Anemia1ATP7B CL E G H540905ORPHA1938958870606882
HP:0001903HP:0001903Anemia1BCL10 CL E G H891552417ORPHA1362989603517
HP:0001903HP:0001903Anemia1BIRC3 CL E G H33052417ORPHA1119591601721
HP:0001903HP:0001903Anemia1BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0001903HP:0001903Anemia1CA2 CL E G H7602785ORPHA131761373611492
HP:0001903HP:0001903Anemia1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0001903HP:0001903Anemia1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM1121461424114010
HP:0001903HP:0001903Anemia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0001903HP:0001903Anemia1CCND1 CL E G H59529073ORPHA17101582168461
HP:0001903HP:0001903Anemia1CDCA7 CL E G H838792268ORPHA164614628609937
HP:0001903HP:0001903Anemia1CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001903HP:0001903Anemia1CLCN7 CL E G H118653ORPHA11002682025602727
HP:0001903HP:0001903Anemia1CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11002682025602727
HP:0001903HP:0001903Anemia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001903HP:0001903Anemia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0001903HP:0001903Anemia1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11018918621606977
HP:0001903HP:0001903Anemia1COL17A1 CL E G H130879402ORPHA11142592194113811
HP:0001903HP:0001903Anemia1COL7A1 CL E G H129479409ORPHA18286912214120120
HP:0001903HP:0001903Anemia1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0001903HP:0001903Anemia1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0001903HP:0001903Anemia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001903HP:0001903Anemia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001903HP:0001903Anemia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001903HP:0001903Anemia1COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0001903HP:0001903Anemia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001903HP:0001903Anemia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001903HP:0001903Anemia1CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM142714312604594
HP:0001903HP:0001903Anemia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13454426169613129
HP:0001903HP:0001903Anemia1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13454426169613129
HP:0001903HP:0001903Anemia1DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0001903HP:0001903Anemia1DKC1 CL E G H17363322ORPHA1753222890300126
HP:0001903HP:0001903Anemia1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1753222890300126
HP:0001903HP:0001903Anemia1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001903HP:0001903Anemia1DNAJC21 CL E G H134218811Balo diseaseORPHA1116027030617048
HP:0001903HP:0001903Anemia1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0001903HP:0001903Anemia1DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0001903HP:0001903Anemia1EFL1 CL E G H79631811Balo diseaseORPHA135725789617538
HP:0001903HP:0001903Anemia1ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA12202283309130130
HP:0001903HP:0001903Anemia1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM12202283309130130
HP:0001903HP:0001903Anemia1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14977003349131195
HP:0001903HP:0001903Anemia1EPO CL E G H2056617911DIAMOND-BLACKFAN ANEMIA-LIKE617911CN873436OMIM16403415133170
HP:0001903HP:0001903Anemia1ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001903HP:0001903Anemia1FAM111A CL E G H6390193325ORPHA194124725615292
HP:0001903HP:0001903Anemia1FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0001903HP:0001903Anemia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168917063582607139
HP:0001903HP:0001903Anemia1FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001903HP:0001903Anemia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1658823584613899
HP:0001903HP:0001903Anemia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1644293585613984
HP:0001903HP:0001903Anemia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1172013586613976
HP:0001903HP:0001903Anemia1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001903HP:0001903Anemia1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM12417620748608111
HP:0001903HP:0001903Anemia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001903HP:0001903Anemia1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0001903HP:0001903Anemia1FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM1731093771136132
HP:0001903HP:0001903Anemia1FOXP1 CL E G H2708652417ORPHA1762413823605515
HP:0001903HP:0001903Anemia1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001903HP:0001903Anemia1GATA1 CL E G H2623231393ORPHA1152354170305371
HP:0001903HP:0001903Anemia1GBA CL E G H262977261ORPHA14942064177606463
HP:0001903HP:0001903Anemia1GBA CL E G H262977259ORPHA14942064177606463
HP:0001903HP:0001903Anemia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0001903HP:0001903Anemia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0001903HP:0001903Anemia1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14942064177606463
HP:0001903HP:0001903Anemia1GCLC CL E G H272933574ORPHA111294311606857
HP:0001903HP:0001903Anemia1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001903HP:0001903Anemia1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0001903HP:0001903Anemia1GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0001903HP:0001903Anemia1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0001903HP:0001903Anemia1HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0001903HP:0001903Anemia1HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0001903HP:0001903Anemia1HBB CL E G H304346532ORPHA187110094827141900
HP:0001903HP:0001903Anemia1HBB CL E G H3043231249ORPHA187110094827141900
HP:0001903HP:0001903Anemia1HBG1 CL E G H304746532ORPHA144564831142200
HP:0001903HP:0001903Anemia1HBG2 CL E G H304846532ORPHA149724832142250
HP:0001903HP:0001903Anemia1HELLS CL E G H30702268ORPHA16514861603946
HP:0001903HP:0001903Anemia1HLA-B CL E G H31063287ORPHA153174932142830
HP:0001903HP:0001903Anemia1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1601365005613898
HP:0001903HP:0001903Anemia1HPRT1 CL E G H3251510ORPHA14282725157308000
HP:0001903HP:0001903Anemia1IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0001903HP:0001903Anemia1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0001903HP:0001903Anemia1IGH CL E G H349252417ORPHA11625477146910
HP:0001903HP:0001903Anemia1IL12B CL E G H35933287ORPHA1191135970161561
HP:0001903HP:0001903Anemia1ITGA2B CL E G H3674187800Platelet-type bleeding disorder 16187800C1861195OMIM12382036138607759
HP:0001903HP:0001903Anemia1ITGB3 CL E G H3690187800Platelet-type bleeding disorder 16187800C1861195OMIM11751906156173470
HP:0001903HP:0001903Anemia1ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0001903HP:0001903Anemia1ITGB4 CL E G H369179402ORPHA1992926158147557
HP:0001903HP:0001903Anemia1ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM1141796171186973
HP:0001903HP:0001903Anemia1KIF23 CL E G H949398870ORPHA13326392605064
HP:0001903HP:0001903Anemia1KLF1 CL E G H1066146532ORPHA1105766345600599
HP:0001903HP:0001903Anemia1KRT14 CL E G H386189838ORPHA11181356416148066
HP:0001903HP:0001903Anemia1LAMA3 CL E G H390979402ORPHA1554526483600805
HP:0001903HP:0001903Anemia1LAMB3 CL E G H391479402ORPHA11213776490150310
HP:0001903HP:0001903Anemia1LAMC2 CL E G H391879402ORPHA1413106493150292
HP:0001903HP:0001903Anemia1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001903HP:0001903Anemia1LIPA CL E G H398875233ORPHA1962466617613497
HP:0001903HP:0001903Anemia1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0001903HP:0001903Anemia1LYST CL E G H1130167ORPHA11028071968606897
HP:0001903HP:0001903Anemia1LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001903HP:0001903Anemia1MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11546764604094
HP:0001903HP:0001903Anemia1MALT1 CL E G H1089252417ORPHA171496819604860
HP:0001903HP:0001903Anemia1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001903HP:0001903Anemia1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM129493498165215
HP:0001903HP:0001903Anemia1MLX CL E G H69453287ORPHA111811645602976
HP:0001903HP:0001903Anemia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0001903HP:0001903Anemia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14225619331607568
HP:0001903HP:0001903Anemia1MPIG6B CL E G H80739617441Thrombocytopenia, anemia, and myelofibrosis617441C4479504OMIM151613937606520
HP:0001903HP:0001903Anemia1MPL CL E G H43523319ORPHA1571877217159530
HP:0001903HP:0001903Anemia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001903HP:0001903Anemia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001903HP:0001903Anemia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA1363287473602568
HP:0001903HP:0001903Anemia1MUC1 CL E G H4582174000Medullary cystic kidney disease 1174000C1868139OMIM13157508158340
HP:0001903HP:0001903Anemia1MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001903HP:0001903Anemia1NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0001903HP:0001903Anemia1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA139214377606470
HP:0001903HP:0001903Anemia1NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0001903HP:0001903Anemia1NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0001903HP:0001903Anemia1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0001903HP:0001903Anemia1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA116014378606471
HP:0001903HP:0001903Anemia1NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM1794037905607100
HP:0001903HP:0001903Anemia1NPHP1 CL E G H4867266900Senior-Loken syndrome 1266900C0403553OMIM1794037905607100
HP:0001903HP:0001903Anemia1NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM111865919104607215
HP:0001903HP:0001903Anemia1NPHP4 CL E G H261734606996Senior-Loken syndrome 4606996C1846979OMIM111865919104607215
HP:0001903HP:0001903Anemia1ORAI1 CL E G H848763204ORPHA11710125896610277
HP:0001903HP:0001903Anemia1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0001903HP:0001903Anemia1PARN CL E G H50733322ORPHA1291668609604212
HP:0001903HP:0001903Anemia1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1291668609604212
HP:0001903HP:0001903Anemia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0001903HP:0001903Anemia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0001903HP:0001903Anemia1PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0001903HP:0001903Anemia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001903HP:0001903Anemia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA1271768877610681
HP:0001903HP:0001903Anemia1PLEC CL E G H5339158684ORPHA110427619069601282
HP:0001903HP:0001903Anemia1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM110427619069601282
HP:0001903HP:0001903Anemia1PLEKHM1 CL E G H9842618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3618107CN253817OMIM142129017611466
HP:0001903HP:0001903Anemia1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM13118430260603287
HP:0001903HP:0001903Anemia1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001903HP:0001903Anemia1PRKACG CL E G H5568616176Platelet-type bleeding disorder 19616176C4015405OMIM11589382176893
HP:0001903HP:0001903Anemia1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM1272209498176801
HP:0001903HP:0001903Anemia1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15179541602177
HP:0001903HP:0001903Anemia1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0001903HP:0001903Anemia1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15119546177045
HP:0001903HP:0001903Anemia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1916115508608109
HP:0001903HP:0001903Anemia1RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0001903HP:0001903Anemia1RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0001903HP:0001903Anemia1RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0001903HP:0001903Anemia1REN CL E G H5972613092Hyperuricemic nephropathy, familial juvenile, 2613092C2751310OMIM121599958179820
HP:0001903HP:0001903Anemia1RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM113110327603704
HP:0001903HP:0001903Anemia1RPL27 CL E G H6155617408Diamond-Blackfan anemia 16617408C4479424OMIM111210328607526
HP:0001903HP:0001903Anemia1RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM155210383603632
HP:0001903HP:0001903Anemia1RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM1345110414603701
HP:0001903HP:0001903Anemia1RPS27 CL E G H6232617409Diamond-Blackfan anemia 17617409C4479428OMIM111610416603702
HP:0001903HP:0001903Anemia1RTEL1 CL E G H517503322ORPHA15468415888608833
HP:0001903HP:0001903Anemia1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA15468415888608833
HP:0001903HP:0001903Anemia1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0001903HP:0001903Anemia1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001903HP:0001903Anemia1SBDS CL E G H51119811Balo diseaseORPHA1906019440607444
HP:0001903HP:0001903Anemia1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0001903HP:0001903Anemia1SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0001903HP:0001903Anemia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0001903HP:0001903Anemia1SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM142318276609213
HP:0001903HP:0001903Anemia1SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM113124010820300490
HP:0001903HP:0001903Anemia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001903HP:0001903Anemia1SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM17281823845613278
HP:0001903HP:0001903Anemia1SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM114712576770600993
HP:0001903HP:0001903Anemia1SMAD4 CL E G H4089175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome175050C1832942OMIM114712576770600993
HP:0001903HP:0001903Anemia1SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0001903HP:0001903Anemia1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0001903HP:0001903Anemia1SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001903HP:0001903Anemia1SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1134614974614780
HP:0001903HP:0001903Anemia1SRP54 CL E G H6729811Balo diseaseORPHA133111301604857
HP:0001903HP:0001903Anemia1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0001903HP:0001903Anemia1STEAP3 CL E G H55240300298ORPHA113724592609671
HP:0001903HP:0001903Anemia1STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM113724592609671
HP:0001903HP:0001903Anemia1STIM1 CL E G H67863204ORPHA12524211386605921
HP:0001903HP:0001903Anemia1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM12524211386605921
HP:0001903HP:0001903Anemia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0001903HP:0001903Anemia1TALDO1 CL E G H6888101028ORPHA1108811559602063
HP:0001903HP:0001903Anemia1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0001903HP:0001903Anemia1TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1816111582604934
HP:0001903HP:0001903Anemia1TBXAS1 CL E G H69161802DemodicidosisORPHA1139111609274180
HP:0001903HP:0001903Anemia1TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001903HP:0001903Anemia1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0001903HP:0001903Anemia1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA17418411727602322
HP:0001903HP:0001903Anemia1TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17418411727602322
HP:0001903HP:0001903Anemia1TERT CL E G H70153322ORPHA1173115911730187270
HP:0001903HP:0001903Anemia1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1173115911730187270
HP:0001903HP:0001903Anemia1TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1173115911730187270
HP:0001903HP:0001903Anemia1TF CL E G H70181195ORPHA1279011740190000
HP:0001903HP:0001903Anemia1TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM15422911762604720
HP:0001903HP:0001903Anemia1THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0001903HP:0001903Anemia1TINF2 CL E G H262773322ORPHA14216511824604319
HP:0001903HP:0001903Anemia1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14216511824604319
HP:0001903HP:0001903Anemia1TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14216511824604319
HP:0001903HP:0001903Anemia1TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001903HP:0001903Anemia1TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM117431628396609884
HP:0001903HP:0001903Anemia1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0001903HP:0001903Anemia1TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001903HP:0001903Anemia1TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM11611711926602642
HP:0001903HP:0001903Anemia1TP53 CL E G H7157618165BONE MARROW FAILURE SYNDROME 5618165OMIM1541203511998191170
HP:0001903HP:0001903Anemia1TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12624817341612907
HP:0001903HP:0001903Anemia1UBE2T CL E G H29089616435Fanconi anemia, complementation group T616435C4084840OMIM171825009610538
HP:0001903HP:0001903Anemia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA1719816808605981
HP:0001903HP:0001903Anemia1UMPS CL E G H737230ORPHA11322712563613891
HP:0001903HP:0001903Anemia1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1227225792613276
HP:0001903HP:0001903Anemia1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0001903HP:0001903Anemia1VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001903HP:0001903Anemia1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1712825522612661
HP:0001903HP:0001903Anemia1XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM199361592300079
HP:0001903HP:0001903Anemia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0001903HP:0001903Anemia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11320324249610957
HP:0001903HP:0001903Anemia1ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0001903HP:0001903Anemia1ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0001903HP:0001903Anemia2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001903HP:0001903Anemia2ABCA1 CL E G H19425ORPHA124035229600046
HP:0001903HP:0001903Anemia2ABCB7 CL E G H222802ORPHA1920448300135
HP:0001903HP:0001903Anemia2ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001903HP:0001903Anemia2ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM12621687604773
HP:0001903HP:0001903Anemia2ACD CL E G H650573322ORPHA1913525070609377
HP:0001903HP:0001903Anemia2ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM13475166604638
HP:0001903HP:0001903Anemia2ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0001903HP:0001903Anemia2AGXT CL E G H18993598ORPHA1211428341604285
HP:0001903HP:0001903Anemia2AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0001903HP:0001903Anemia2AK2 CL E G H20433355ORPHA11987362103020
HP:0001903HP:0001903Anemia2ALAS2 CL E G H21275563ORPHA1103227397301300
HP:0001903HP:0001903Anemia2ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0001903HP:0001903Anemia2ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0001903HP:0001903Anemia2APOA1 CL E G H335425ORPHA17776600107680
HP:0001903HP:0001903Anemia2APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001903HP:0001903Anemia2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001903HP:0001903Anemia2ATP7B CL E G H540905ORPHA1938958870606882
HP:0001903HP:0001903Anemia2BCL10 CL E G H891552417ORPHA1362989603517
HP:0001903HP:0001903Anemia2BIRC3 CL E G H33052417ORPHA1119591601721
HP:0001903HP:0001903Anemia2BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0001903HP:0001903Anemia2CA2 CL E G H7602785ORPHA131761373611492
HP:0001903HP:0001903Anemia2CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0001903HP:0001903Anemia2CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM1121461424114010
HP:0001903HP:0001903Anemia2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0001903HP:0001903Anemia2CCND1 CL E G H59529073ORPHA17101582168461
HP:0001903HP:0001903Anemia2CDCA7 CL E G H838792268ORPHA164614628609937
HP:0001903HP:0001903Anemia2CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001903HP:0001903Anemia2CLCN7 CL E G H118653ORPHA11002682025602727
HP:0001903HP:0001903Anemia2CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11002682025602727
HP:0001903HP:0001903Anemia2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001903HP:0001903Anemia2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0001903HP:0001903Anemia2COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11018918621606977
HP:0001903HP:0001903Anemia2COL17A1 CL E G H130879402ORPHA11142592194113811
HP:0001903HP:0001903Anemia2COL7A1 CL E G H129479409ORPHA18286912214120120
HP:0001903HP:0001903Anemia2COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0001903HP:0001903Anemia2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0001903HP:0001903Anemia2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001903HP:0001903Anemia2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001903HP:0001903Anemia2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001903HP:0001903Anemia2COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0001903HP:0001903Anemia2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001903HP:0001903Anemia2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001903HP:0001903Anemia2CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM142714312604594
HP:0001903HP:0001903Anemia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13454426169613129
HP:0001903HP:0001903Anemia2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13454426169613129
HP:0001903HP:0001903Anemia2DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0001903HP:0001903Anemia2DKC1 CL E G H17363322ORPHA1753222890300126
HP:0001903HP:0001903Anemia2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1753222890300126
HP:0001903HP:0001903Anemia2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001903HP:0001903Anemia2DNAJC21 CL E G H134218811Balo diseaseORPHA1116027030617048
HP:0001903HP:0001903Anemia2DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0001903HP:0001903Anemia2DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0001903HP:0001903Anemia2EFL1 CL E G H79631811Balo diseaseORPHA135725789617538
HP:0001903HP:0001903Anemia2ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA12202283309130130
HP:0001903HP:0001903Anemia2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM12202283309130130
HP:0001903HP:0001903Anemia2ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14977003349131195
HP:0001903HP:0001903Anemia2EPO CL E G H2056617911DIAMOND-BLACKFAN ANEMIA-LIKE617911CN873436OMIM16403415133170
HP:0001903HP:0001903Anemia2ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001903HP:0001903Anemia2FAM111A CL E G H6390193325ORPHA194124725615292
HP:0001903HP:0001903Anemia2FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0001903HP:0001903Anemia2FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168917063582607139
HP:0001903HP:0001903Anemia2FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001903HP:0001903Anemia2FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1658823584613899
HP:0001903HP:0001903Anemia2FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1644293585613984
HP:0001903HP:0001903Anemia2FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1172013586613976
HP:0001903HP:0001903Anemia2FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923253588602956
HP:0001903HP:0001903Anemia2FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM12417620748608111
HP:0001903HP:0001903Anemia2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001903HP:0001903Anemia2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0001903HP:0001903Anemia2FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM1731093771136132
HP:0001903HP:0001903Anemia2FOXP1 CL E G H2708652417ORPHA1762413823605515
HP:0001903HP:0001903Anemia2G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001903HP:0001903Anemia2GATA1 CL E G H2623231393ORPHA1152354170305371
HP:0001903HP:0001903Anemia2GBA CL E G H262977261ORPHA14942064177606463
HP:0001903HP:0001903Anemia2GBA CL E G H262977259ORPHA14942064177606463
HP:0001903HP:0001903Anemia2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0001903HP:0001903Anemia2GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0001903HP:0001903Anemia2GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14942064177606463
HP:0001903HP:0001903Anemia2GCLC CL E G H272933574ORPHA111294311606857
HP:0001903HP:0001903Anemia2GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001903HP:0001903Anemia2GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0001903HP:0001903Anemia2GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0001903HP:0001903Anemia2HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0001903HP:0001903Anemia2HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0001903HP:0001903Anemia2HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0001903HP:0001903Anemia2HBB CL E G H304346532ORPHA187110094827141900
HP:0001903HP:0001903Anemia2HBB CL E G H3043231249ORPHA187110094827141900
HP:0001903HP:0001903Anemia2HBG1 CL E G H304746532ORPHA144564831142200
HP:0001903HP:0001903Anemia2HBG2 CL E G H304846532ORPHA149724832142250
HP:0001903HP:0001903Anemia2HELLS CL E G H30702268ORPHA16514861603946
HP:0001903HP:0001903Anemia2HLA-B CL E G H31063287ORPHA153174932142830
HP:0001903HP:0001903Anemia2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1601365005613898
HP:0001903HP:0001903Anemia2HPRT1 CL E G H3251510ORPHA14282725157308000
HP:0001903HP:0001903Anemia2IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0001903HP:0001903Anemia2IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0001903HP:0001903Anemia2IGH CL E G H349252417ORPHA11625477146910
HP:0001903HP:0001903Anemia2IL12B CL E G H35933287ORPHA1191135970161561
HP:0001903HP:0001903Anemia2ITGA2B CL E G H3674187800Platelet-type bleeding disorder 16187800C1861195OMIM12382036138607759
HP:0001903HP:0001903Anemia2ITGB3 CL E G H3690187800Platelet-type bleeding disorder 16187800C1861195OMIM11751906156173470
HP:0001903HP:0001903Anemia2ITGB4 CL E G H369179402ORPHA1992926158147557
HP:0001903HP:0001903Anemia2ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0001903HP:0001903Anemia2ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM1141796171186973
HP:0001903HP:0001903Anemia2KIF23 CL E G H949398870ORPHA13326392605064
HP:0001903HP:0001903Anemia2KLF1 CL E G H1066146532ORPHA1105766345600599
HP:0001903HP:0001903Anemia2KRT14 CL E G H386189838ORPHA11181356416148066
HP:0001903HP:0001903Anemia2LAMA3 CL E G H390979402ORPHA1554526483600805
HP:0001903HP:0001903Anemia2LAMB3 CL E G H391479402ORPHA11213776490150310
HP:0001903HP:0001903Anemia2LAMC2 CL E G H391879402ORPHA1413106493150292
HP:0001903HP:0001903Anemia2LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001903HP:0001903Anemia2LIPA CL E G H398875233ORPHA1962466617613497
HP:0001903HP:0001903Anemia2LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0001903HP:0001903Anemia2LYST CL E G H1130167ORPHA11028071968606897
HP:0001903HP:0001903Anemia2LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001903HP:0001903Anemia2MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11546764604094
HP:0001903HP:0001903Anemia2MALT1 CL E G H1089252417ORPHA171496819604860
HP:0001903HP:0001903Anemia2MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001903HP:0001903Anemia2MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM129493498165215
HP:0001903HP:0001903Anemia2MLX CL E G H69453287ORPHA111811645602976
HP:0001903HP:0001903Anemia2MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0001903HP:0001903Anemia2MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14225619331607568
HP:0001903HP:0001903Anemia2MPIG6B CL E G H80739617441Thrombocytopenia, anemia, and myelofibrosis617441C4479504OMIM151613937606520
HP:0001903HP:0001903Anemia2MPL CL E G H43523319ORPHA1571877217159530
HP:0001903HP:0001903Anemia2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001903HP:0001903Anemia2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001903HP:0001903Anemia2MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA1363287473602568
HP:0001903HP:0001903Anemia2MUC1 CL E G H4582174000Medullary cystic kidney disease 1174000C1868139OMIM13157508158340
HP:0001903HP:0001903Anemia2MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001903HP:0001903Anemia2NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0001903HP:0001903Anemia2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA139214377606470
HP:0001903HP:0001903Anemia2NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0001903HP:0001903Anemia2NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0001903HP:0001903Anemia2NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0001903HP:0001903Anemia2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA116014378606471
HP:0001903HP:0001903Anemia2NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM1794037905607100
HP:0001903HP:0001903Anemia2NPHP1 CL E G H4867266900Senior-Loken syndrome 1266900C0403553OMIM1794037905607100
HP:0001903HP:0001903Anemia2NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM111865919104607215
HP:0001903HP:0001903Anemia2NPHP4 CL E G H261734606996Senior-Loken syndrome 4606996C1846979OMIM111865919104607215
HP:0001903HP:0001903Anemia2ORAI1 CL E G H848763204ORPHA11710125896610277
HP:0001903HP:0001903Anemia2OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0001903HP:0001903Anemia2PARN CL E G H50733322ORPHA1291668609604212
HP:0001903HP:0001903Anemia2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1291668609604212
HP:0001903HP:0001903Anemia2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0001903HP:0001903Anemia2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0001903HP:0001903Anemia2PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0001903HP:0001903Anemia2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001903HP:0001903Anemia2PFKM CL E G H5213371Qazi Markouizos syndromeORPHA1271768877610681
HP:0001903HP:0001903Anemia2PLEC CL E G H5339158684ORPHA110427619069601282
HP:0001903HP:0001903Anemia2PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM110427619069601282
HP:0001903HP:0001903Anemia2PLEKHM1 CL E G H9842618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3618107CN253817OMIM142129017611466
HP:0001903HP:0001903Anemia2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM13118430260603287
HP:0001903HP:0001903Anemia2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001903HP:0001903Anemia2PRKACG CL E G H5568616176Platelet-type bleeding disorder 19616176C4015405OMIM11589382176893
HP:0001903HP:0001903Anemia2PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM1272209498176801
HP:0001903HP:0001903Anemia2PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15179541602177
HP:0001903HP:0001903Anemia2PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0001903HP:0001903Anemia2PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15119546177045
HP:0001903HP:0001903Anemia2PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1916115508608109
HP:0001903HP:0001903Anemia2RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0001903HP:0001903Anemia2RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0001903HP:0001903Anemia2RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0001903HP:0001903Anemia2REN CL E G H5972613092Hyperuricemic nephropathy, familial juvenile, 2613092C2751310OMIM121599958179820
HP:0001903HP:0001903Anemia2RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM113110327603704
HP:0001903HP:0001903Anemia2RPL27 CL E G H6155617408Diamond-Blackfan anemia 16617408C4479424OMIM111210328607526
HP:0001903HP:0001903Anemia2RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM155210383603632
HP:0001903HP:0001903Anemia2RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM1345110414603701
HP:0001903HP:0001903Anemia2RPS27 CL E G H6232617409Diamond-Blackfan anemia 17617409C4479428OMIM111610416603702
HP:0001903HP:0001903Anemia2RTEL1 CL E G H517503322ORPHA15468415888608833
HP:0001903HP:0001903Anemia2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA15468415888608833
HP:0001903HP:0001903Anemia2SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0001903HP:0001903Anemia2SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001903HP:0001903Anemia2SBDS CL E G H51119811Balo diseaseORPHA1906019440607444
HP:0001903HP:0001903Anemia2SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0001903HP:0001903Anemia2SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0001903HP:0001903Anemia2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0001903HP:0001903Anemia2SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM142318276609213
HP:0001903HP:0001903Anemia2SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM113124010820300490
HP:0001903HP:0001903Anemia2SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001903HP:0001903Anemia2SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM17281823845613278
HP:0001903HP:0001903Anemia2SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM114712576770600993
HP:0001903HP:0001903Anemia2SMAD4 CL E G H4089175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome175050C1832942OMIM114712576770600993
HP:0001903HP:0001903Anemia2SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0001903HP:0001903Anemia2SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0001903HP:0001903Anemia2SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001903HP:0001903Anemia2SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1134614974614780
HP:0001903HP:0001903Anemia2SRP54 CL E G H6729811Balo diseaseORPHA133111301604857
HP:0001903HP:0001903Anemia2SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0001903HP:0001903Anemia2STEAP3 CL E G H55240300298ORPHA113724592609671
HP:0001903HP:0001903Anemia2STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM113724592609671
HP:0001903HP:0001903Anemia2STIM1 CL E G H67863204ORPHA12524211386605921
HP:0001903HP:0001903Anemia2STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM12524211386605921
HP:0001903HP:0001903Anemia2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0001903HP:0001903Anemia2TALDO1 CL E G H6888101028ORPHA1108811559602063
HP:0001903HP:0001903Anemia2TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0001903HP:0001903Anemia2TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1816111582604934
HP:0001903HP:0001903Anemia2TBXAS1 CL E G H69161802DemodicidosisORPHA1139111609274180
HP:0001903HP:0001903Anemia2TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001903HP:0001903Anemia2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0001903HP:0001903Anemia2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA17418411727602322
HP:0001903HP:0001903Anemia2TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17418411727602322
HP:0001903HP:0001903Anemia2TERT CL E G H70153322ORPHA1173115911730187270
HP:0001903HP:0001903Anemia2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1173115911730187270
HP:0001903HP:0001903Anemia2TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1173115911730187270
HP:0001903HP:0001903Anemia2TF CL E G H70181195ORPHA1279011740190000
HP:0001903HP:0001903Anemia2TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM15422911762604720
HP:0001903HP:0001903Anemia2THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0001903HP:0001903Anemia2TINF2 CL E G H262773322ORPHA14216511824604319
HP:0001903HP:0001903Anemia2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14216511824604319
HP:0001903HP:0001903Anemia2TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14216511824604319
HP:0001903HP:0001903Anemia2TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001903HP:0001903Anemia2TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM117431628396609884
HP:0001903HP:0001903Anemia2TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0001903HP:0001903Anemia2TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001903HP:0001903Anemia2TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM11611711926602642
HP:0001903HP:0001903Anemia2TP53 CL E G H7157618165BONE MARROW FAILURE SYNDROME 5618165OMIM1541203511998191170
HP:0001903HP:0001903Anemia2TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12624817341612907
HP:0001903HP:0001903Anemia2UBE2T CL E G H29089616435Fanconi anemia, complementation group T616435C4084840OMIM171825009610538
HP:0001903HP:0001903Anemia2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA1719816808605981
HP:0001903HP:0001903Anemia2UMPS CL E G H737230ORPHA11322712563613891
HP:0001903HP:0001903Anemia2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1227225792613276
HP:0001903HP:0001903Anemia2VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0001903HP:0001903Anemia2VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001903HP:0001903Anemia2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1712825522612661
HP:0001903HP:0001903Anemia2XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM199361592300079
HP:0001903HP:0001903Anemia2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0001903HP:0001903Anemia2YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11320324249610957
HP:0001903HP:0001903Anemia2ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0001903HP:0001903Anemia2ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0001903HP:0001903Anemia3AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001903HP:0001903Anemia3ABCA1 CL E G H19425ORPHA124035229600046
HP:0001903HP:0001903Anemia3ABCB7 CL E G H222802ORPHA1920448300135
HP:0001903HP:0001903Anemia3ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001903HP:0001903Anemia3ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM12621687604773
HP:0001903HP:0001903Anemia3ACD CL E G H650573322ORPHA1913525070609377
HP:0001903HP:0001903Anemia3ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM13475166604638
HP:0001903HP:0001903Anemia3ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0001903HP:0001903Anemia3AGXT CL E G H18993598ORPHA1211428341604285
HP:0001903HP:0001903Anemia3AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0001903HP:0001903Anemia3AK2 CL E G H20433355ORPHA11987362103020
HP:0001903HP:0001903Anemia3ALAS2 CL E G H21275563ORPHA1103227397301300
HP:0001903HP:0001903Anemia3ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0001903HP:0001903Anemia3ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0001903HP:0001903Anemia3APOA1 CL E G H335425ORPHA17776600107680
HP:0001903HP:0001903Anemia3APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001903HP:0001903Anemia3APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001903HP:0001903Anemia3ATP7B CL E G H540905ORPHA1938958870606882
HP:0001903HP:0001903Anemia3BCL10 CL E G H891552417ORPHA1362989603517
HP:0001903HP:0001903Anemia3BIRC3 CL E G H33052417ORPHA1119591601721
HP:0001903HP:0001903Anemia3BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0001903HP:0001903Anemia3CA2 CL E G H7602785ORPHA131761373611492
HP:0001903HP:0001903Anemia3CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0001903HP:0001903Anemia3CAD CL E G H790