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 myeloid leukocyte morphology (HP:0010974)

Parent Node:
Abnormal macrophage morphology (HP:0004311)

..Starting node
..Abnormal macrophage count (HP:0030326)

Term ID:

30326

Name:

Abnormal macrophage count

Synonym:

Definition:

An anomaly in the number of macrophages.

Comments:

Reference:

HP:0030326

Genes and Diseases:

Child Nodes:

........

Abnormal osteoclast count (HP:0030327)

................... HP:0030328 Decreased osteoclast count

Sister Nodes:

Bone-marrow foam cells (HP:0004333)

Granulomatosis (HP:0002955)

Hemophagocytosis (HP:0012156)

Histiocytosis (HP:0100727)

Sea-blue histiocytosis (HP:0001982)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030326	HP:0030326	Abnormal macrophage count	0	CL E G H

Genes (0) :

Diseases (0) :

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