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:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | EPO CL E G H | 2056 | 3415 | OMIM:617911 | DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL | | | | 1 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | | | | 12 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | | | | 580 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | | | | 57 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL18 CL E G H | 6141 | 10310 | OMIM:618310 | DIAMOND-BLACKFAN ANEMIA 18; DBA18 | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL35 CL E G H | 11224 | 10344 | OMIM:618312 | DIAMOND-BLACKFAN ANEMIA 19; DBA19 | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS14 CL E G H | 6208 | 10387 | OMIM:153550 | Chromosome 5q deletion syndrome | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS15A CL E G H | 6210 | 10389 | OMIM:618313 | DIAMOND-BLACKFAN ANEMIA 20; DBA20 | | | | | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 19 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 3 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | | | | 3 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:618165 | Bone marrow failure syndrome 5 | | | | 911 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0012131 | HP:0012131 | Abnormal number of erythroid precursors | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | | | | | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | EPO CL E G H | 2056 | 3415 | OMIM:617911 | DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL | | | | 1 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | . | | | 12 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 29 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 29 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040282 - Frequent | | | 580 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | . | | | 57 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL18 CL E G H | 6141 | 10310 | OMIM:618310 | DIAMOND-BLACKFAN ANEMIA 18; DBA18 | | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL35 CL E G H | 11224 | 10344 | OMIM:618312 | DIAMOND-BLACKFAN ANEMIA 19; DBA19 | | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 11 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 11 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 40 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 40 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 26 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 26 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS14 CL E G H | 6208 | 10387 | OMIM:153550 | Chromosome 5q deletion syndrome | | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | HP:0040282 - Frequent | | | | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS15A CL E G H | 6210 | 10389 | OMIM:618313 | DIAMOND-BLACKFAN ANEMIA 20; DBA20 | | | | | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 5 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 5 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 42 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 42 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 20 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 20 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 19 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:618165 | Bone marrow failure syndrome 5 | . | | | 911 | | |
HP:0012131 | HP:0012410 | Pure red cell aplasia | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012131 | HP:0012133 | Erythroid hypoplasia | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040283 - Occasional | | | 31 | | |
HP:0012131 | HP:0012132 | Erythroid hyperplasia | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0012131 | HP:0200143 | Megaloblastic erythroid hyperplasia | 2 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | . | | | | | |
HP:0012131 | HP:0200143 | Megaloblastic erythroid hyperplasia | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 19 | | |
HP:0012131 | HP:0200143 | Megaloblastic erythroid hyperplasia | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 3 | | |