Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
..Starting node
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Extramedullary hematopoiesis (HP:0001978)help
Term ID: 1978
Name: Extramedullary hematopoiesis
Synonym: Extramedullary erythropoiesis
Definition: The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
Comments:
Reference: HP:0001978
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal bleeding (HP:0001892) help
..expandAbnormal erythrocyte morphology (HP:0001877) help
..expandAbnormal leukocyte morphology (HP:0001881) help
..expandAbnormal myeloid cell morphology (HP:0020047) help
..expandAbnormal thrombosis (HP:0001977) help
..expandAbnormality of bone marrow cell morphology (HP:0005561) help
..expandAbnormality of coagulation (HP:0001928) help
..expandAbnormality of thrombocytes (HP:0001872) help
..expandHematological neoplasm (HP:0004377) 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:0001978HP:0001978Extramedullary hematopoiesis0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0001978HP:0001978Extramedullary hematopoiesis0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional150
HP:0001978HP:0001978Extramedullary hematopoiesis0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0001978HP:0001978Extramedullary hematopoiesis0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001978HP:0001978Extramedullary hematopoiesis0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional51
HP:0001978HP:0001978Extramedullary hematopoiesis0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0001978HP:0001978Extramedullary hematopoiesis0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0001978HP:0001978Extramedullary hematopoiesis0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040282 - Frequent580
HP:0001978HP:0001978Extramedullary hematopoiesis0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0001978HP:0001978Extramedullary hematopoiesis0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040282 - Frequent580
HP:0001978HP:0001978Extramedullary hematopoiesis0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001978HP:0001978Extramedullary hematopoiesis0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001978HP:0001978Extramedullary hematopoiesis0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0001978HP:0001978Extramedullary hematopoiesis0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0001978HP:0001978Extramedullary hematopoiesis0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional109
HP:0001978HP:0001978Extramedullary hematopoiesis0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional228
HP:0001978HP:0001978Extramedullary hematopoiesis0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional156
HP:0001978HP:0001978Extramedullary hematopoiesis0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001978HP:0001978Extramedullary hematopoiesis0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0001978HP:0001978Extramedullary hematopoiesis0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7


Genes (18) :AKR1D1 ANK1 CA2 CALR EPB42 FERMT3 FGFR2 HBB JAK2 MPL OSTM1 RBM10 SLC4A1 SPTA1 SPTB TET2 TNFSF11 VPS45

Diseases (13) :ORPHA:79303 ORPHA:822 OMIM:259730 ORPHA:824 OMIM:612840 ORPHA:313855 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:259720 ORPHA:2886 OMIM:259710 OMIM:615285
 

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