Human Phenotype Ontology 
Grandparent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Parent Node:
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Abnormal erythrocyte morphology (HP:0001877)help
..Starting node
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Abnormal reticulocyte morphology (HP:0004312)help
Term ID: 4312
Name: Abnormal reticulocyte morphology
Synonym: Abnormality of reticulocytes
Definition: A reticulocyte abnormality.
Comments:
Reference: HP:0004312
Genes and Diseases:
 
       Child Nodes:
........expandReticulocytopenia (HP:0001896) help
........expandReticulocytosis (HP:0001923) help

 Sister Nodes: 
..expandAbnormal erythrocyte enzyme level (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
..expandAnemia (HP:0001903) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004312HP:0004312Abnormal reticulocyte morphology0ABCB6 CL E G H1005847ORPHA:90044Familial pseudohyperkalemia20
HP:0004312HP:0004312Abnormal reticulocyte morphology0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0004312HP:0004312Abnormal reticulocyte morphology0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0004312HP:0004312Abnormal reticulocyte morphology0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary129
HP:0004312HP:0004312Abnormal reticulocyte morphology0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndrome25
HP:0004312HP:0004312Abnormal reticulocyte morphology0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosis150
HP:0004312HP:0004312Abnormal reticulocyte morphology0ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1150
HP:0004312HP:0004312Abnormal reticulocyte morphology0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0004312HP:0004312Abnormal reticulocyte morphology0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0004312HP:0004312Abnormal reticulocyte morphology0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0004312HP:0004312Abnormal reticulocyte morphology0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia86
HP:0004312HP:0004312Abnormal reticulocyte morphology0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib
HP:0004312HP:0004312Abnormal reticulocyte morphology0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 186
HP:0004312HP:0004312Abnormal reticulocyte morphology0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0004312HP:0004312Abnormal reticulocyte morphology0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0004312HP:0004312Abnormal reticulocyte morphology0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0004312HP:0004312Abnormal reticulocyte morphology0CPOX CL E G H13712321OMIM:618892Harderoporphyria72
HP:0004312HP:0004312Abnormal reticulocyte morphology0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndrome273
HP:0004312HP:0004312Abnormal reticulocyte morphology0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosis6
HP:0004312HP:0004312Abnormal reticulocyte morphology0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosis51
HP:0004312HP:0004312Abnormal reticulocyte morphology0EPB42 CL E G H20383381OMIM:612690SPHEROCYTOSIS, TYPE 5; SPH551
HP:0004312HP:0004312Abnormal reticulocyte morphology0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0004312HP:0004312Abnormal reticulocyte morphology0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0004312HP:0004312Abnormal reticulocyte morphology0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0004312HP:0004312Abnormal reticulocyte morphology0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0004312HP:0004312Abnormal reticulocyte morphology0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0004312HP:0004312Abnormal reticulocyte morphology0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0004312HP:0004312Abnormal reticulocyte morphology0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0004312HP:0004312Abnormal reticulocyte morphology0GATA1 CL E G H26234170OMIM:30108329
HP:0004312HP:0004312Abnormal reticulocyte morphology0GATA1 CL E G H26234170OMIM:300835Anemia, X-linked, with or without neutropenia and/or platelet abnormalities.29
HP:0004312HP:0004312Abnormal reticulocyte morphology0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0004312HP:0004312Abnormal reticulocyte morphology0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0004312HP:0004312Abnormal reticulocyte morphology0GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked29
HP:0004312HP:0004312Abnormal reticulocyte morphology0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiency2
HP:0004312HP:0004312Abnormal reticulocyte morphology0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosis5
HP:0004312HP:0004312Abnormal reticulocyte morphology0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0004312HP:0004312Abnormal reticulocyte morphology0HBB CL E G H30434827ORPHA:232Sickle cell anemia580
HP:0004312HP:0004312Abnormal reticulocyte morphology0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0004312HP:0004312Abnormal reticulocyte morphology0HBG2 CL E G H30484832OMIM:613977Cyanosis, transient neonatal50
HP:0004312HP:0004312Abnormal reticulocyte morphology0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0004312HP:0004312Abnormal reticulocyte morphology0HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency11
HP:0004312HP:0004312Abnormal reticulocyte morphology0IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemia23
HP:0004312HP:0004312Abnormal reticulocyte morphology0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosis3
HP:0004312HP:0004312Abnormal reticulocyte morphology0KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 23
HP:0004312HP:0004312Abnormal reticulocyte morphology0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0004312HP:0004312Abnormal reticulocyte morphology0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0004312HP:0004312Abnormal reticulocyte morphology0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0004312HP:0004312Abnormal reticulocyte morphology0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0004312HP:0004312Abnormal reticulocyte morphology0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0004312HP:0004312Abnormal reticulocyte morphology0PFKM CL E G H52138877OMIM:232800Glycogen storage disease VII64
HP:0004312HP:0004312Abnormal reticulocyte morphology0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency21
HP:0004312HP:0004312Abnormal reticulocyte morphology0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency21
HP:0004312HP:0004312Abnormal reticulocyte morphology0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosis36
HP:0004312HP:0004312Abnormal reticulocyte morphology0PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema36
HP:0004312HP:0004312Abnormal reticulocyte morphology0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuria46
HP:0004312HP:0004312Abnormal reticulocyte morphology0PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiency51
HP:0004312HP:0004312Abnormal reticulocyte morphology0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells51
HP:0004312HP:0004312Abnormal reticulocyte morphology0PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemia58
HP:0004312HP:0004312Abnormal reticulocyte morphology0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0004312HP:0004312Abnormal reticulocyte morphology0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0004312HP:0004312Abnormal reticulocyte morphology0RHAG CL E G H600510006ORPHA:3203Overhydrated hereditary stomatocytosis13
HP:0004312HP:0004312Abnormal reticulocyte morphology0RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis13
HP:0004312HP:0004312Abnormal reticulocyte morphology0RHAG CL E G H600510006ORPHA:71275Rh deficiency syndrome13
HP:0004312HP:0004312Abnormal reticulocyte morphology0RHCE CL E G H600610008ORPHA:71275Rh deficiency syndrome8
HP:0004312HP:0004312Abnormal reticulocyte morphology0RHD CL E G H600710009ORPHA:71275Rh deficiency syndrome16
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL15 CL E G H613810306OMIM:615550Diamond-Blackfan anemia 123
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 511
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS17 CL E G H621810397OMIM:612527Diamond-Blackfan anemia 45
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS24 CL E G H622910411OMIM:610629Diamond-Blackfan anemia 322
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 1020
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0004312HP:0004312Abnormal reticulocyte morphology0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0004312HP:0004312Abnormal reticulocyte morphology0SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemia26
HP:0004312HP:0004312Abnormal reticulocyte morphology0SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II60
HP:0004312HP:0004312Abnormal reticulocyte morphology0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0004312HP:0004312Abnormal reticulocyte morphology0SLC4A1 CL E G H652111027OMIM:185020CRYOHYDROCYTOSIS109
HP:0004312HP:0004312Abnormal reticulocyte morphology0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosis109
HP:0004312HP:0004312Abnormal reticulocyte morphology0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosis109
HP:0004312HP:0004312Abnormal reticulocyte morphology0SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia109
HP:0004312HP:0004312Abnormal reticulocyte morphology0SLC4A1 CL E G H652111027OMIM:612653Spherocytosis, type 4109
HP:0004312HP:0004312Abnormal reticulocyte morphology0SPTA1 CL E G H670811272OMIM:130600Elliptocytosis 2228
HP:0004312HP:0004312Abnormal reticulocyte morphology0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosis228
HP:0004312HP:0004312Abnormal reticulocyte morphology0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosis228
HP:0004312HP:0004312Abnormal reticulocyte morphology0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosis156
HP:0004312HP:0004312Abnormal reticulocyte morphology0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosis156
HP:0004312HP:0004312Abnormal reticulocyte morphology0SPTB CL E G H671011274OMIM:616649SPHEROCYTOSIS, TYPE 2; SPH2156
HP:0004312HP:0004312Abnormal reticulocyte morphology0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0004312HP:0004312Abnormal reticulocyte morphology0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency57
HP:0004312HP:0004312Abnormal reticulocyte morphology0TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemia48
HP:0004312HP:0004312Abnormal reticulocyte morphology0TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemia238
HP:0004312HP:0004312Abnormal reticulocyte morphology0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0004312HP:0004312Abnormal reticulocyte morphology0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0004312HP:0001923Reticulocytosis1ABCB6 CL E G H1005847ORPHA:90044Familial pseudohyperkalemiaHP:0040283 - Occasional20
HP:0004312HP:0001923Reticulocytosis1ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0004312HP:0001896Reticulocytopenia1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent22
HP:0004312HP:0001923Reticulocytosis1ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary.129
HP:0004312HP:0001923Reticulocytosis1AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040282 - Frequent25
HP:0004312HP:0001923Reticulocytosis1ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent150
HP:0004312HP:0001923Reticulocytosis1ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1.150
HP:0004312HP:0001923Reticulocytosis1BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0004312HP:0001923Reticulocytosis1CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0004312HP:0001923Reticulocytosis1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0004312HP:0001923Reticulocytosis1CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0004312HP:0001923Reticulocytosis1CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0004312HP:0001923Reticulocytosis1CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0004312HP:0001923Reticulocytosis1CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0004312HP:0001923Reticulocytosis1CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0004312HP:0001923Reticulocytosis1CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0004312HP:0001923Reticulocytosis1CPOX CL E G H13712321OMIM:618892Harderoporphyria.72
HP:0004312HP:0001923Reticulocytosis1CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040282 - Frequent273
HP:0004312HP:0001923Reticulocytosis1EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional6
HP:0004312HP:0001923Reticulocytosis1EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent51
HP:0004312HP:0001923Reticulocytosis1EPB42 CL E G H20383381OMIM:612690SPHEROCYTOSIS, TYPE 5; SPH551
HP:0004312HP:0001896Reticulocytopenia1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0004312HP:0001896Reticulocytopenia1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0004312HP:0001896Reticulocytopenia1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0004312HP:0001896Reticulocytopenia1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0004312HP:0001923Reticulocytosis1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0004312HP:0001923Reticulocytosis1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0004312HP:0001923Reticulocytosis1G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0004312HP:0001923Reticulocytosis1GATA1 CL E G H26234170OMIM:30108329
HP:0004312HP:0001896Reticulocytopenia1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent29
HP:0004312HP:0001923Reticulocytosis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0004312HP:0001923Reticulocytosis1GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked.29
HP:0004312HP:0001923Reticulocytosis1GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0004312HP:0001923Reticulocytosis1GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional5
HP:0004312HP:0001923Reticulocytosis1HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0004312HP:0001923Reticulocytosis1HBB CL E G H30434827ORPHA:232Sickle cell anemiaHP:0040282 - Frequent580
HP:0004312HP:0001923Reticulocytosis1HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0004312HP:0001923Reticulocytosis1HBG2 CL E G H30484832OMIM:613977Cyanosis, transient neonatalHP:0040283 - Occasional50
HP:0004312HP:0001923Reticulocytosis1HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0004312HP:0001923Reticulocytosis1HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency.11
HP:0004312HP:0001896Reticulocytopenia1IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent23
HP:0004312HP:0001923Reticulocytosis1KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent3
HP:0004312HP:0001923Reticulocytosis1KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 2.3
HP:0004312HP:0001923Reticulocytosis1KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV.42
HP:0004312HP:0001923Reticulocytosis1KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0004312HP:0001923Reticulocytosis1MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0004312HP:0001896Reticulocytopenia1MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0004312HP:0001923Reticulocytosis1NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0004312HP:0001923Reticulocytosis1PFKM CL E G H52138877OMIM:232800Glycogen storage disease VII.64
HP:0004312HP:0001923Reticulocytosis1PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0004312HP:0001923Reticulocytosis1PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency.21
HP:0004312HP:0001923Reticulocytosis1PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent36
HP:0004312HP:0001923Reticulocytosis1PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema.36
HP:0004312HP:0001923Reticulocytosis1PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040282 - Frequent46
HP:0004312HP:0001923Reticulocytosis1PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiencyHP:0040281 - Very frequent51
HP:0004312HP:0001923Reticulocytosis1PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells.51
HP:0004312HP:0001896Reticulocytopenia1PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent58
HP:0004312HP:0001923Reticulocytosis1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0004312HP:0001923Reticulocytosis1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0004312HP:0001923Reticulocytosis1RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis.13
HP:0004312HP:0001923Reticulocytosis1RHAG CL E G H600510006ORPHA:3203Overhydrated hereditary stomatocytosisHP:0040281 - Very frequent13
HP:0004312HP:0001923Reticulocytosis1RHAG CL E G H600510006ORPHA:71275Rh deficiency syndromeHP:0040281 - Very frequent13
HP:0004312HP:0001923Reticulocytosis1RHCE CL E G H600610008ORPHA:71275Rh deficiency syndromeHP:0040281 - Very frequent8
HP:0004312HP:0001923Reticulocytosis1RHD CL E G H600710009ORPHA:71275Rh deficiency syndromeHP:0040281 - Very frequent16
HP:0004312HP:0001896Reticulocytopenia1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent22
HP:0004312HP:0001896Reticulocytopenia1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent3
HP:0004312HP:0001896Reticulocytopenia1RPL15 CL E G H613810306OMIM:615550Diamond-Blackfan anemia 12.3
HP:0004312HP:0001896Reticulocytopenia1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0004312HP:0001896Reticulocytopenia1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent3
HP:0004312HP:0001896Reticulocytopenia1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0004312HP:0001896Reticulocytopenia1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0004312HP:0001896Reticulocytopenia1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0004312HP:0001896Reticulocytopenia1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent11
HP:0004312HP:0001896Reticulocytopenia1RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 5.11
HP:0004312HP:0001896Reticulocytopenia1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent40
HP:0004312HP:0001896Reticulocytopenia1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent26
HP:0004312HP:0001896Reticulocytopenia1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0004312HP:0001896Reticulocytopenia1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent5
HP:0004312HP:0001896Reticulocytopenia1RPS17 CL E G H621810397OMIM:612527Diamond-Blackfan anemia 45
HP:0004312HP:0001896Reticulocytopenia1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent42
HP:0004312HP:0001896Reticulocytopenia1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0004312HP:0001896Reticulocytopenia1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0004312HP:0001896Reticulocytopenia1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent22
HP:0004312HP:0001896Reticulocytopenia1RPS24 CL E G H622910411OMIM:610629Diamond-Blackfan anemia 322
HP:0004312HP:0001896Reticulocytopenia1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent20
HP:0004312HP:0001896Reticulocytopenia1RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 10.20
HP:0004312HP:0001896Reticulocytopenia1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0004312HP:0001896Reticulocytopenia1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0004312HP:0001896Reticulocytopenia1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent3
HP:0004312HP:0001896Reticulocytopenia1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent20
HP:0004312HP:0001896Reticulocytopenia1SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent26
HP:0004312HP:0001923Reticulocytosis1SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II.60
HP:0004312HP:0001923Reticulocytosis1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0004312HP:0001923Reticulocytosis1SLC4A1 CL E G H652111027OMIM:185020CRYOHYDROCYTOSIS.109
HP:0004312HP:0001923Reticulocytosis1SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent109
HP:0004312HP:0001923Reticulocytosis1SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent109
HP:0004312HP:0001923Reticulocytosis1SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemiaHP:0040283 - Occasional109
HP:0004312HP:0001923Reticulocytosis1SLC4A1 CL E G H652111027OMIM:612653Spherocytosis, type 4.109
HP:0004312HP:0001923Reticulocytosis1SPTA1 CL E G H670811272OMIM:130600Elliptocytosis 2228
HP:0004312HP:0001923Reticulocytosis1SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional228
HP:0004312HP:0001923Reticulocytosis1SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent228
HP:0004312HP:0001923Reticulocytosis1SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional156
HP:0004312HP:0001923Reticulocytosis1SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent156
HP:0004312HP:0001923Reticulocytosis1SPTB CL E G H671011274OMIM:616649SPHEROCYTOSIS, TYPE 2; SPH2156
HP:0004312HP:0001896Reticulocytopenia1STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblastsHP:0040281 - Very frequent1
HP:0004312HP:0001896Reticulocytopenia1TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0004312HP:0001896Reticulocytopenia1TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent48
HP:0004312HP:0001896Reticulocytopenia1TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemiaHP:0040282 - Frequent238
HP:0004312HP:0001896Reticulocytopenia1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0004312HP:0001923Reticulocytosis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41


Genes (82) :ABCB6 ABCG8 ADA2 ADAMTS13 AMN ANK1 BCL11A CASK CASP10 CDAN1 CDIN1 CFH CFHR1 CFHR3 CLCN7 CPOX CUBN EPB41 EPB42 FANCA FANCC FANCD2 FANCE FAS FASLG G6PD GATA1 GCLC GYPC HBB HBG1 HBG2 HK1 IFNG KCNN4 KLF1 MTTP MYSM1 NHLRC2 PFKM PGK1 PIEZO1 PIGA PKLR PRF1 PRKCD RASGRP1 RHAG RHCE RHD RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS SEC23B SLC2A1 SLC4A1 SPTA1 SPTB STEAP3 TCN2 TERC TERT TSR2 UROS

Diseases (61) :ORPHA:90044 OMIM:210250 ORPHA:124 OMIM:274150 ORPHA:35858 ORPHA:822 OMIM:182900 ORPHA:251380 OMIM:300908 ORPHA:3261 OMIM:224120 OMIM:615631 OMIM:235400 OMIM:611490 OMIM:618892 ORPHA:288 OMIM:612690 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:301083 OMIM:300835 ORPHA:79277 OMIM:314050 ORPHA:33574 ORPHA:232 OMIM:613977 OMIM:235700 ORPHA:88 ORPHA:3202 OMIM:616689 OMIM:613673 ORPHA:14 ORPHA:508542 OMIM:618278 OMIM:232800 ORPHA:713 OMIM:300653 OMIM:194380 ORPHA:447 ORPHA:766 OMIM:266200 ORPHA:3203 OMIM:185000 ORPHA:71275 OMIM:615550 OMIM:612528 OMIM:612527 OMIM:105650 OMIM:610629 OMIM:613309 OMIM:224100 OMIM:612126 OMIM:185020 OMIM:611590 OMIM:612653 OMIM:130600 OMIM:616649 ORPHA:300298 OMIM:275350
 

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