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
..Synovial sarcoma (HP:0012570)

Term ID:

12570

Name:

Synovial sarcoma

Synonym:

Malignant synovioma

Definition:

A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.

Comments:

Reference:

HP:0012570

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alveolar soft part sarcoma (HP:0012218)

Angiosarcoma (HP:0200058)

Fibroma (HP:0010614)

Fibrosarcoma (HP:0100244)

Leiomyosarcoma (HP:0100243)

Neurofibrosarcoma (HP:0100697)

Rhabdomyosarcoma (HP:0002859)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012570	HP:0012570	Synovial sarcoma	0	SSX1 CL E G H	6756	11335	OMIM:300813	Sarcoma, synovial	.
HP:0012570	HP:0012570	Synovial sarcoma	0	SSX2 CL E G H	6757	11336	OMIM:300813	Sarcoma, synovial	.

Genes (2) :SSX1 SSX2

Diseases (1) :OMIM:300813

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