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 skeletal morphology (HP:0011842)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of the skeletal system (HP:0010622)

..Starting node
..Osteochondroma (HP:0030431)

Term ID:

30431

Name:

Osteochondroma

Synonym:

Osteocartilaginous exostoses; Osteochondromas

Definition:

A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.

Comments:

Reference:

HP:0030431

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chondroblastoma (HP:0030432)

Chondrosarcoma (HP:0006765)

Chordoma (HP:0010762)

Enchondroma (HP:0030038)

Exostoses (HP:0100777)

Giant cell tumor of bone (HP:0011847)

Osteoblastoma (HP:0011846)

Osteoma (HP:0100246)

Osteosarcoma (HP:0002669)

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:0030431	HP:0030431	Osteochondroma	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0030431	HP:0030431	Osteochondroma	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040280 - Obligate	96
HP:0030431	HP:0030431	Osteochondroma	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040280 - Obligate	102
HP:0030431	HP:0030431	Osteochondroma	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.	145
HP:0030431	HP:0030431	Osteochondroma	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0030431	HP:0030431	Osteochondroma	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1

Genes (6) :COL2A1 EXT1 EXT2 FGFR3 GLI3 SOX6

Diseases (5) :OMIM:609162 ORPHA:321 OMIM:610474 ORPHA:672 OMIM:618971

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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