Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Fibrosarcoma (HP:0100244)

Term ID:

100244

Name:

Fibrosarcoma

Synonym:

Definition:

A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.

Comments:

Reference:

HP:0100244

Genes and Diseases:

Child Nodes:

........

Desmoid tumors (HP:0100245)

Sister Nodes:

Alveolar soft part sarcoma (HP:0012218)

Angiosarcoma (HP:0200058)

Fibroma (HP:0010614)

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	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100244	HP:0100244	Fibrosarcoma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0100244	HP:0100244	Fibrosarcoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0100244	HP:0100244	Fibrosarcoma	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0100244	HP:0100244	Fibrosarcoma	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0100244	HP:0100244	Fibrosarcoma	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0100244	HP:0100244	Fibrosarcoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0100244	HP:0100244	Fibrosarcoma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0100244	HP:0100244	Fibrosarcoma	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0100244	HP:0100244	Fibrosarcoma	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent		373
HP:0100244	HP:0100244	Fibrosarcoma	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0100244	HP:0100244	Fibrosarcoma	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional		20
HP:0100244	HP:0100244	Fibrosarcoma	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0100244	HP:0100244	Fibrosarcoma	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0100244	HP:0100244	Fibrosarcoma	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent		9
HP:0100244	HP:0100244	Fibrosarcoma	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0100244	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0100244	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0100244	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary	HP:0040281 - Very frequent	HP:0003593 - Infantile onset	3179
HP:0100244	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0100244	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0100244	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0100244	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0100244	HP:0100245	Desmoid tumors	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		385
HP:0100244	HP:0100245	Desmoid tumors	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0100244	HP:0100245	Desmoid tumors	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		9
HP:0100244	HP:0100245	Desmoid tumors	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136

Genes (9) :APC BMPR1A COL1A1 CTNNB1 FOXC2 GREM1 MTAP PDGFB SPRED1

Diseases (12) :OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:873 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:157794 ORPHA:31112 ORPHA:33001 OMIM:112250 ORPHA:137605

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

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