Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | | | | 20 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 25 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | | | | 150 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | | | | 150 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | | | | 102 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | | | | 72 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 273 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | | | | 6 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | | | | 51 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | . | | | 29 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | | | | 29 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | | | | 2 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | | | | 5 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | | | | 50 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | | | | 11 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | | | | 3 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | | | | 64 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | | | | 36 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | | | | 51 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | | | | 13 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | | | | 13 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | | | | 13 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | | | | 8 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | | | | 16 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL15 CL E G H | 6138 | 10306 | OMIM:615550 | Diamond-Blackfan anemia 12 | | | | 3 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | | | | 22 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | | | | 20 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | | | | 60 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | | | | 255 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:185020 | CRYOHYDROCYTOSIS | | | | 109 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | | | | 109 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | | | | 109 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SPTA1 CL E G H | 6708 | 11272 | OMIM:130600 | Elliptocytosis 2 | | | | 228 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | | | | 228 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | | | | 228 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | | | | 156 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | | | | 156 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | | | | 57 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0004312 | HP:0004312 | Abnormal reticulocyte morphology | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | HP:0040283 - Occasional | | | 20 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | . | | | 76 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 273 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | . | | | 147 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 29 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040282 - Frequent | | | 580 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | HP:0040283 - Occasional | | | 50 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040282 - Frequent | | | 23 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | . | | | 21 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | . | | | 36 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040282 - Frequent | | | 58 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL15 CL E G H | 6138 | 10306 | OMIM:615550 | Diamond-Blackfan anemia 12 | . | | | 3 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 11 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | . | | | 11 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 40 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 26 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 5 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 42 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | | | | 22 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | . | | | 20 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040282 - Frequent | | | 26 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | . | | | 255 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:185020 | CRYOHYDROCYTOSIS | . | | | 109 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | HP:0040283 - Occasional | | | 109 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | . | | | 109 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SPTA1 CL E G H | 6708 | 11272 | OMIM:130600 | Elliptocytosis 2 | | | | 228 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040281 - Very frequent | | | 1 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | . | | | 57 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040282 - Frequent | | | 48 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040282 - Frequent | | | 238 | | |
HP:0004312 | HP:0001896 | Reticulocytopenia | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0004312 | HP:0001923 | Reticulocytosis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |