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:
Neoplasm by histology (HP:0011792)

Parent Node:
Fibrous tissue neoplasm (HP:0012316)

..Starting node
..Histiocytoma (HP:0012315)

Term ID:

12315

Name:

Histiocytoma

Synonym:

Definition:

A neoplasm containing histiocytes.

Comments:

Reference:

HP:0012315

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fibroma (HP:0010614)

Inclusion body fibromatosis (HP:0025197)

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:0012315	HP:0012315	Histiocytoma	0	CREB1 CL E G H	1385	2345	OMIM:612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS		1
HP:0012315	HP:0012315	Histiocytoma	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85

Genes (2) :CREB1 MTAP

Diseases (2) :OMIM:612160 OMIM:112250

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