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 pelvic girdle bone morphology (HP:0002644)

Parent Node:
Abnormal hip bone morphology (HP:0003272)

..Starting node
..Coxa magna (HP:0003279)

Term ID:

3279

Name:

Coxa magna

Synonym:

Definition:

Widening of the femoral head and neck.

Comments:

Reference:

HP:0003279

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hip joint morphology (HP:0001384)

Abnormal ilium morphology (HP:0002867)

Abnormality of the ischium (HP:0003174)

Abnormality of the pubic bone (HP:0003172)

Arthralgia of the hip (HP:0003365)

Hip dysplasia (HP:0001385)

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:0003279	HP:0003279	Coxa magna	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0003279	HP:0003279	Coxa magna	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0003279	HP:0003279	Coxa magna	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171

Genes (2) :TBX4 TRPS1

Diseases (3) :ORPHA:261279 OMIM:190350 OMIM:190351

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