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:
Sarcoma (HP:0100242)

Parent Node:
Soft tissue sarcoma (HP:0030448)

..Starting node
..Angiosarcoma (HP:0200058)

Term ID:

200058

Name:

Angiosarcoma

Synonym:

Definition:

Comments:

Reference:

HP:0200058

Genes and Diseases:

Child Nodes:

........

Metastatic angiosarcoma (HP:0200059)

Sister Nodes:

Alveolar soft part sarcoma (HP:0012218)

Fibroma (HP:0010614)

Fibrosarcoma (HP:0100244)

Leiomyosarcoma (HP:0100243)

Neurofibrosarcoma (HP:0100697)

Rhabdomyosarcoma (HP:0002859)

Synovial sarcoma (HP:0012570)

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:0200058	HP:0200058	Angiosarcoma	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional	3
HP:0200058	HP:0200058	Angiosarcoma	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040283 - Occasional	90
HP:0200058	HP:0200058	Angiosarcoma	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040283 - Occasional	37
HP:0200058	HP:0200059	Metastatic angiosarcoma	1	CL E G H

Genes (3) :EPHB4 FLT4 GJC2

Diseases (2) :ORPHA:90186 ORPHA:79452

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