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:
Abnormal leukocyte count (HP:0011893)

Grandparent Node:
Abnormal monocyte morphology (HP:0012144)

Parent Node:
Abnormal monocyte count (HP:0012310)

..Starting node
..Monocytopenia (HP:0012312)

Term ID:

12312

Name:

Monocytopenia

Synonym:

Low blood monocyte number

Definition:

An decreased number of circulating monocytes.

Comments:

Reference:

HP:0012312

Genes and Diseases:

Child Nodes:

Sister Nodes:

Monocytosis (HP:0012311)

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:0012312	HP:0012312	Monocytopenia	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0012312	HP:0012312	Monocytopenia	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0012312	HP:0012312	Monocytopenia	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012312	HP:0012312	Monocytopenia	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012312	HP:0012312	Monocytopenia	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012312	HP:0012312	Monocytopenia	0	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0012312	HP:0012312	Monocytopenia	0	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65

Genes (6) :CARD11 GATA2 IRF8 PIK3CG RAC2 WAS

Diseases (7) :OMIM:615206 OMIM:614172 OMIM:226990 OMIM:619802 OMIM:618986 OMIM:300299 ORPHA:86788

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