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
..Histiocytosis (HP:0100727)

Term ID:

100727

Name:

Histiocytosis

Synonym:

Definition:

An excessive number of histiocytes (tissue macrophages).

Comments:

Reference:

HP:0100727

Genes and Diseases:

Child Nodes:

........

Mucinous histiocytosis (HP:0040138)

Sister Nodes:

Abnormal macrophage count (HP:0030326)

Bone-marrow foam cells (HP:0004333)

Granulomatosis (HP:0002955)

Hemophagocytosis (HP:0012156)

Sea-blue histiocytosis (HP:0001982)

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:0100727	HP:0100727	Histiocytosis	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0100727	HP:0100727	Histiocytosis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent	68
HP:0100727	HP:0100727	Histiocytosis	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100727	HP:0040138	Mucinous histiocytosis	1	CL E G H

Genes (2) :IFNGR1 SLC29A3

Diseases (3) :OMIM:209950 ORPHA:168569 OMIM:602782

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