Human Phenotype Ontology 
Grandparent Node:
expand
Hematological neoplasm (HP:0004377)help
Parent Node:
expand
Myelodysplasia (HP:0002863)help
..Starting node
..expand
Single lineage myelodysplasia (HP:0012150)help
Term ID: 12150
Name: Single lineage myelodysplasia
Synonym:
Definition: Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).
Comments:
Reference: HP:0012150
Genes and Diseases:
 
       Child Nodes:
........expandRefractory anemia with ringed sideroblasts (HP:0004828) help

 Sister Nodes: 
..expandBilineage myelodysplasia (HP:0012149) help
..expandMultiple lineage myelodysplasia (HP:0012148) 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:0012150HP:0012150Single lineage myelodysplasia0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0012150HP:0012150Single lineage myelodysplasia0HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0012150HP:0012150Single lineage myelodysplasia0HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0012150HP:0012150Single lineage myelodysplasia0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemia19
HP:0012150HP:0012150Single lineage myelodysplasia0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemia3
HP:0012150HP:0012150Single lineage myelodysplasia0TET2 CL E G H5479025941ORPHA:98826Refractory anemiaHP:0040282 - Frequent3
HP:0012150HP:0004828Refractory anemia with ringed sideroblasts1ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0012150HP:0004828Refractory anemia with ringed sideroblasts1HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0012150HP:0004828Refractory anemia with ringed sideroblasts1HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0012150HP:0004828Refractory anemia with ringed sideroblasts1SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040281 - Very frequent19
HP:0012150HP:0004828Refractory anemia with ringed sideroblasts1TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040281 - Very frequent3


Genes (5) :ERBB3 HSCB HSPA9 SF3B1 TET2

Diseases (5) :OMIM:133180 OMIM:619523 OMIM:182170 ORPHA:75564 ORPHA:98826
 

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