Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of bone marrow cell morphology (HP:0005561)

Parent Node:
Abnormal granulocytopoietic cell morphology (HP:0012135)

..Starting node
..Dysplastic granulopoesis (HP:0012136)

Term ID:

12136

Name:

Dysplastic granulopoesis

Synonym:

Definition:

Comments:

Reference:

HP:0012136

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal number of granulocyte precursors (HP:0012137)

Myelokathexis (HP:0031160)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012136	HP:0012136	Dysplastic granulopoesis	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0012136	HP:0012136	Dysplastic granulopoesis	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3

Genes (2) :SF3B1 TET2

Diseases (1) :ORPHA:75564

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