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)

Grandparent Node:
Limitation of joint mobility (HP:0001376)

Parent Node:
Limited hip movement (HP:0008800)

..Starting node
..Decreased hip abduction (HP:0003184)

Term ID:

3184

Name:

Decreased hip abduction

Synonym:

Limited hip abduction

Definition:

Reduced ability to move the femur outward to the side.

Comments:

Reference:

HP:0003184

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hip contracture (HP:0003273)

Limited hip extension (HP:0003093)

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:0003184	HP:0003184	Decreased hip abduction	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0003184	HP:0003184	Decreased hip abduction	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0003184	HP:0003184	Decreased hip abduction	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003184	HP:0003184	Decreased hip abduction	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0003184	HP:0003184	Decreased hip abduction	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0003184	HP:0003184	Decreased hip abduction	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54

Genes (6) :CHST3 MATN3 NFIX PIEZO2 TNNT1 TPM2

Diseases (6) :OMIM:143095 ORPHA:93311 OMIM:602535 OMIM:114300 OMIM:605355 OMIM:108120

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