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 number of erythroid precursors (HP:0012131)help
Term ID: 12131
Name: Abnormal number of erythroid precursors
Synonym:
Definition: A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Comments:
Reference: HP:0012131
Genes and Diseases:
 
       Child Nodes:
........expandErythroid hyperplasia (HP:0012132) help
................... HP:0200143 Megaloblastic erythroid hyperplasia
........expandErythroid hypoplasia (HP:0012133) help
........expandPure red cell aplasia (HP:0012410) 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 reticulocyte morphology (HP:0004312) 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:0012131HP:0012131Abnormal number of erythroid precursors0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0012131HP:0012131Abnormal number of erythroid precursors0CBLIF CL E G H26944268OMIM:261000Intrinsic factor deficiency
HP:0012131HP:0012131Abnormal number of erythroid precursors0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia86
HP:0012131HP:0012131Abnormal number of erythroid precursors0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib
HP:0012131HP:0012131Abnormal number of erythroid precursors0EPO CL E G H20563415OMIM:617911DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL1
HP:0012131HP:0012131Abnormal number of erythroid precursors0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0012131HP:0012131Abnormal number of erythroid precursors0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0012131HP:0012131Abnormal number of erythroid precursors0GATA1 CL E G H26234170OMIM:30108329
HP:0012131HP:0012131Abnormal number of erythroid precursors0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0012131HP:0012131Abnormal number of erythroid precursors0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0012131HP:0012131Abnormal number of erythroid precursors0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0012131HP:0012131Abnormal number of erythroid precursors0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermedia580
HP:0012131HP:0012131Abnormal number of erythroid precursors0HEATR3 CL E G H5502726087OMIM:620072
HP:0012131HP:0012131Abnormal number of erythroid precursors0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0012131HP:0012131Abnormal number of erythroid precursors0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0012131HP:0012131Abnormal number of erythroid precursors0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency21
HP:0012131HP:0012131Abnormal number of erythroid precursors0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuria46
HP:0012131HP:0012131Abnormal number of erythroid precursors0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells51
HP:0012131HP:0012131Abnormal number of erythroid precursors0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0012131HP:0012131Abnormal number of erythroid precursors0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 157
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL18 CL E G H614110310OMIM:618310DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL35 CL E G H1122410344OMIM:618312DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 511
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS14 CL E G H620810387OMIM:153550Chromosome 5q deletion syndrome
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS14 CL E G H620810387ORPHA:86841Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS15A CL E G H621010389OMIM:618313DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS17 CL E G H621810397OMIM:612527Diamond-Blackfan anemia 45
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0012131HP:0012131Abnormal number of erythroid precursors0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0012131HP:0012131Abnormal number of erythroid precursors0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemia19
HP:0012131HP:0012131Abnormal number of erythroid precursors0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemia3
HP:0012131HP:0012131Abnormal number of erythroid precursors0TET2 CL E G H5479025941ORPHA:98826Refractory anemia3
HP:0012131HP:0012131Abnormal number of erythroid precursors0TP53 CL E G H715711998OMIM:618165Bone marrow failure syndrome 5911
HP:0012131HP:0012131Abnormal number of erythroid precursors0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0012131HP:0012131Abnormal number of erythroid precursors0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0012131HP:0012131Abnormal number of erythroid precursors0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0012131HP:0012410Pure red cell aplasia1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent22
HP:0012131HP:0012133Erythroid hypoplasia1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent22
HP:0012131HP:0012132Erythroid hyperplasia1CBLIF CL E G H26944268OMIM:261000Intrinsic factor deficiency
HP:0012131HP:0012132Erythroid hyperplasia1CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0012131HP:0012132Erythroid hyperplasia1CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0012131HP:0012410Pure red cell aplasia1EPO CL E G H20563415OMIM:617911DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL1
HP:0012131HP:0012132Erythroid hyperplasia1ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0012131HP:0012133Erythroid hypoplasia1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0012131HP:0012132Erythroid hyperplasia1GATA1 CL E G H26234170OMIM:30108329
HP:0012131HP:0012410Pure red cell aplasia1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent29
HP:0012131HP:0012133Erythroid hypoplasia1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent29
HP:0012131HP:0012132Erythroid hyperplasia1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0012131HP:0012132Erythroid hyperplasia1GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0012131HP:0012132Erythroid hyperplasia1HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040282 - Frequent580
HP:0012131HP:0012133Erythroid hypoplasia1HEATR3 CL E G H5502726087OMIM:620072
HP:0012131HP:0012132Erythroid hyperplasia1KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV.42
HP:0012131HP:0012132Erythroid hyperplasia1LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0012131HP:0012132Erythroid hyperplasia1PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency21
HP:0012131HP:0012132Erythroid hyperplasia1PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0012131HP:0012132Erythroid hyperplasia1PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells51
HP:0012131HP:0012410Pure red cell aplasia1PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0012131HP:0012132Erythroid hyperplasia1PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0012131HP:0012133Erythroid hypoplasia1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent22
HP:0012131HP:0012410Pure red cell aplasia1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent22
HP:0012131HP:0012133Erythroid hypoplasia1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent3
HP:0012131HP:0012410Pure red cell aplasia1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent3
HP:0012131HP:0012410Pure red cell aplasia1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0012131HP:0012133Erythroid hypoplasia1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0012131HP:0012133Erythroid hypoplasia1RPL18 CL E G H614110310OMIM:618310DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0012131HP:0012133Erythroid hypoplasia1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent3
HP:0012131HP:0012410Pure red cell aplasia1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent3
HP:0012131HP:0012410Pure red cell aplasia1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0012131HP:0012133Erythroid hypoplasia1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0012131HP:0012133Erythroid hypoplasia1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0012131HP:0012410Pure red cell aplasia1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0012131HP:0012133Erythroid hypoplasia1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0012131HP:0012410Pure red cell aplasia1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0012131HP:0012133Erythroid hypoplasia1RPL35 CL E G H1122410344OMIM:618312DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0012131HP:0012133Erythroid hypoplasia1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent11
HP:0012131HP:0012410Pure red cell aplasia1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent11
HP:0012131HP:0012133Erythroid hypoplasia1RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 511
HP:0012131HP:0012133Erythroid hypoplasia1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent40
HP:0012131HP:0012410Pure red cell aplasia1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent40
HP:0012131HP:0012133Erythroid hypoplasia1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent26
HP:0012131HP:0012410Pure red cell aplasia1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent26
HP:0012131HP:0012133Erythroid hypoplasia1RPS14 CL E G H620810387OMIM:153550Chromosome 5q deletion syndrome
HP:0012131HP:0012133Erythroid hypoplasia1RPS14 CL E G H620810387ORPHA:86841Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormalityHP:0040282 - Frequent
HP:0012131HP:0012410Pure red cell aplasia1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0012131HP:0012133Erythroid hypoplasia1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent
HP:0012131HP:0012133Erythroid hypoplasia1RPS15A CL E G H621010389OMIM:618313DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0012131HP:0012133Erythroid hypoplasia1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent5
HP:0012131HP:0012410Pure red cell aplasia1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent5
HP:0012131HP:0012133Erythroid hypoplasia1RPS17 CL E G H621810397OMIM:612527Diamond-Blackfan anemia 45
HP:0012131HP:0012410Pure red cell aplasia1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent42
HP:0012131HP:0012133Erythroid hypoplasia1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent42
HP:0012131HP:0012410Pure red cell aplasia1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0012131HP:0012133Erythroid hypoplasia1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0012131HP:0012410Pure red cell aplasia1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent22
HP:0012131HP:0012133Erythroid hypoplasia1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent22
HP:0012131HP:0012133Erythroid hypoplasia1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent20
HP:0012131HP:0012410Pure red cell aplasia1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent20
HP:0012131HP:0012133Erythroid hypoplasia1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0012131HP:0012410Pure red cell aplasia1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0012131HP:0012133Erythroid hypoplasia1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0012131HP:0012410Pure red cell aplasia1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0012131HP:0012410Pure red cell aplasia1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent3
HP:0012131HP:0012133Erythroid hypoplasia1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent3
HP:0012131HP:0012133Erythroid hypoplasia1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent20
HP:0012131HP:0012410Pure red cell aplasia1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent20
HP:0012131HP:0012132Erythroid hyperplasia1SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040282 - Frequent19
HP:0012131HP:0012132Erythroid hyperplasia1TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040282 - Frequent3
HP:0012131HP:0012133Erythroid hypoplasia1TET2 CL E G H5479025941ORPHA:98826Refractory anemiaHP:0040282 - Frequent3
HP:0012131HP:0012410Pure red cell aplasia1TP53 CL E G H715711998OMIM:618165Bone marrow failure syndrome 5.911
HP:0012131HP:0012410Pure red cell aplasia1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0012131HP:0012133Erythroid hypoplasia1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent1
HP:0012131HP:0012132Erythroid hyperplasia1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0012131HP:0012132Erythroid hyperplasia1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0012131HP:0200143Megaloblastic erythroid hyperplasia2CBLIF CL E G H26944268OMIM:261000Intrinsic factor deficiency.
HP:0012131HP:0200143Megaloblastic erythroid hyperplasia2SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040282 - Frequent19
HP:0012131HP:0200143Megaloblastic erythroid hyperplasia2TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040282 - Frequent3


Genes (45) :ADA2 CBLIF CDAN1 CDIN1 EPO ERBB3 G6PC3 GATA1 GLRX5 HBB HEATR3 KLF1 LPIN2 PGK1 PIGA PKLR PNP PUS1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SF3B1 TET2 TP53 TSR2 UROD UROS

Diseases (30) :ORPHA:124 OMIM:261000 OMIM:224120 OMIM:615631 OMIM:617911 OMIM:133180 OMIM:612541 OMIM:301083 ORPHA:79277 OMIM:616860 ORPHA:231222 OMIM:620072 OMIM:613673 OMIM:609628 OMIM:300653 ORPHA:447 OMIM:266200 OMIM:613179 OMIM:600462 OMIM:618310 OMIM:618312 OMIM:612528 OMIM:153550 ORPHA:86841 OMIM:618313 OMIM:612527 ORPHA:75564 ORPHA:98826 OMIM:618165 ORPHA:95159
 

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