Human Phenotype Ontology 
Grandparent Node:
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Abnormal erythrocyte morphology (HP:0001877)help
Parent Node:
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Anemia (HP:0001903)help
..Starting node
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Refractory anemia (HP:0005505)help
Term ID: 5505
Name: Refractory anemia
Synonym: Refractory anaemia
Definition:
Comments:
Reference: HP:0005505
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnemia due to reduced life span of red cells (HP:0011895) help
..expandAnemia of inadequate production (HP:0010972) help
..expandTransient erythroblastopenia (HP:0005510) 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:0005505HP:0005505Refractory anemia0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent385
HP:0005505HP:0005505Refractory anemia0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0005505HP:0005505Refractory anemia0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040281 - Very frequent115
HP:0005505HP:0005505Refractory anemia0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0005505HP:0005505Refractory anemia0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent9
HP:0005505HP:0005505Refractory anemia0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0005505HP:0005505Refractory anemia0TBXAS1 CL E G H691611609OMIM:231095Ghosal hematodiaphyseal dysplasia.16


Genes (6) :BMPR1A CP DDX41 GREM1 PTEN TBXAS1

Diseases (5) :ORPHA:157794 ORPHA:79076 ORPHA:48818 OMIM:616871 OMIM:231095
 

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