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:
Abnormal femoral neck/head morphology (HP:0003366)

Parent Node:
Abnormal femoral neck morphology (HP:0003367)

..Starting node
..Coxa vara (HP:0002812)

Term ID:

2812

Name:

Coxa vara

Synonym:

Definition:

Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.

Comments:

Reference:

HP:0002812

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad femoral neck (HP:0006429)

Coxa valga (HP:0002673)

Narrow femoral neck (HP:0008819)

Short femoral neck (HP:0100864)

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:0002812	HP:0002812	Coxa vara	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0002812	HP:0002812	Coxa vara	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0002812	HP:0002812	Coxa vara	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0002812	HP:0002812	Coxa vara	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0002812	HP:0002812	Coxa vara	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0002812	HP:0002812	Coxa vara	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0002812	HP:0002812	Coxa vara	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0002812	HP:0002812	Coxa vara	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0002812	HP:0002812	Coxa vara	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0002812	HP:0002812	Coxa vara	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0002812	HP:0002812	Coxa vara	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0002812	HP:0002812	Coxa vara	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040281 - Very frequent	79
HP:0002812	HP:0002812	Coxa vara	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0002812	HP:0002812	Coxa vara	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0002812	HP:0002812	Coxa vara	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent	284
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0002812	HP:0002812	Coxa vara	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0002812	HP:0002812	Coxa vara	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0002812	HP:0002812	Coxa vara	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0002812	HP:0002812	Coxa vara	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0002812	HP:0002812	Coxa vara	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare	89
HP:0002812	HP:0002812	Coxa vara	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0002812	HP:0002812	Coxa vara	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0002812	HP:0002812	Coxa vara	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002812	HP:0002812	Coxa vara	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0002812	HP:0002812	Coxa vara	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0002812	HP:0002812	Coxa vara	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0002812	HP:0002812	Coxa vara	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0002812	HP:0002812	Coxa vara	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0002812	HP:0002812	Coxa vara	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0002812	HP:0002812	Coxa vara	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0002812	HP:0002812	Coxa vara	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0002812	HP:0002812	Coxa vara	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	61
HP:0002812	HP:0002812	Coxa vara	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI		61
HP:0002812	HP:0002812	Coxa vara	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002812	HP:0002812	Coxa vara	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent	9
HP:0002812	HP:0002812	Coxa vara	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0002812	HP:0002812	Coxa vara	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0002812	HP:0002812	Coxa vara	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0002812	HP:0002812	Coxa vara	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0002812	HP:0002812	Coxa vara	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040281 - Very frequent	44
HP:0002812	HP:0002812	Coxa vara	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002812	HP:0002812	Coxa vara	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002812	HP:0002812	Coxa vara	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0002812	HP:0002812	Coxa vara	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0002812	HP:0002812	Coxa vara	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0002812	HP:0002812	Coxa vara	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002812	HP:0002812	Coxa vara	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0002812	HP:0002812	Coxa vara	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0002812	HP:0002812	Coxa vara	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0002812	HP:0002812	Coxa vara	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0002812	HP:0002812	Coxa vara	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0002812	HP:0002812	Coxa vara	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0002812	HP:0002812	Coxa vara	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0002812	HP:0002812	Coxa vara	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0002812	HP:0002812	Coxa vara	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0002812	HP:0002812	Coxa vara	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0002812	HP:0002812	Coxa vara	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0002812	HP:0002812	Coxa vara	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0002812	HP:0002812	Coxa vara	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent	15
HP:0002812	HP:0002812	Coxa vara	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0002812	HP:0002812	Coxa vara	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0002812	HP:0002812	Coxa vara	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002812	HP:0002812	Coxa vara	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0002812	HP:0002812	Coxa vara	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0002812	HP:0002812	Coxa vara	0	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI	.	35
HP:0002812	HP:0002812	Coxa vara	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0002812	HP:0002812	Coxa vara	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0002812	HP:0002812	Coxa vara	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002812	HP:0002812	Coxa vara	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0002812	HP:0002812	Coxa vara	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0002812	HP:0002812	Coxa vara	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002812	HP:0002812	Coxa vara	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0002812	HP:0002812	Coxa vara	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0002812	HP:0002812	Coxa vara	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0002812	HP:0002812	Coxa vara	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0002812	HP:0002812	Coxa vara	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0002812	HP:0002812	Coxa vara	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040283 - Occasional	2
HP:0002812	HP:0002812	Coxa vara	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0002812	HP:0002812	Coxa vara	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14

Genes (64) :ADAMTS2 ADAMTSL2 AIFM1 ATP6V0A2 ATP7A CANT1 CCN6 CFAP410 COL10A1 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CRTAP CSGALNACT1 DDRGK1 DMP1 DNAJC21 DVL1 DVL3 DYM ENPP1 EXT1 EXT2 FKBP10 FLNB FN1 FZD2 HSPG2 IHH KDELR2 MATN3 MEGF8 MMP13 NFIX NKX3-2 ORC6 PCNT PCYT1A PEX5 POP1 PRG4 RAD21 RMRP RNU4ATAC RPL13 RSPRY1 RUNX2 SBDS SERPINF1 SLC26A2 SLC2A10 SRP54 TBX4 TCIRG1 TONSL TRAPPC2 TRPV4 UFSP2 WNT5A XYLT1

Diseases (72) :ORPHA:1901 OMIM:300232 OMIM:278250 ORPHA:2834 ORPHA:198 OMIM:251450 ORPHA:1425 OMIM:208230 ORPHA:1159 OMIM:602271 ORPHA:174 OMIM:156500 ORPHA:1899 OMIM:609162 OMIM:156550 ORPHA:166011 OMIM:184250 OMIM:183900 ORPHA:93315 OMIM:184255 ORPHA:93316 ORPHA:166002 ORPHA:93308 OMIM:610682 OMIM:602557 ORPHA:289176 OMIM:260400 ORPHA:3107 ORPHA:239 OMIM:133700 OMIM:133701 OMIM:259450 OMIM:610968 OMIM:272460 ORPHA:800 OMIM:255800 ORPHA:63446 OMIM:607778 OMIM:619131 OMIM:607078 OMIM:614976 OMIM:602111 OMIM:602535 OMIM:613330 OMIM:613803 ORPHA:2637 OMIM:210720 OMIM:608940 ORPHA:85167 OMIM:616716 OMIM:617396 OMIM:208250 ORPHA:2848 OMIM:614701 OMIM:250250 ORPHA:1824 OMIM:618728 ORPHA:457395 OMIM:119600 ORPHA:1452 OMIM:613982 ORPHA:93307 ORPHA:3342 OMIM:147891 OMIM:259700 ORPHA:93357 OMIM:271510 ORPHA:93284 OMIM:313400 ORPHA:93314 OMIM:184252 ORPHA:2114

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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