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
..Myelokathexis (HP:0031160)

Term ID:

31160

Name:

Myelokathexis

Synonym:

Definition:

Impaired egress of mature neutrophils from bone marrow causing neutropenia.

Comments:

Reference:

HP:0031160

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal number of granulocyte precursors (HP:0012137)

Dysplastic granulopoesis (HP:0012136)

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:0031160	HP:0031160	Myelokathexis	0	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0031160	HP:0031160	Myelokathexis	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0031160	HP:0031160	Myelokathexis	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9

Genes (2) :CXCR2 CXCR4

Diseases (3) :OMIM:619407 OMIM:193670 ORPHA:51636

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