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:
Abnormality of the calf (HP:0002981)

Grandparent Node:
Bowing of the long bones (HP:0006487)

Parent Node:
Abnormality of femur morphology (HP:0002823)

Parent Node:
Bowing of the legs (HP:0002979)

..Starting node
..Femoral bowing (HP:0002980)

Term ID:

2980

Name:

Femoral bowing

Synonym:

Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone

Definition:

Bowing (abnormal curvature) of the femur.

Comments:

Reference:

HP:0002980

Genes and Diseases:

Child Nodes:

........

Femoral bowing present at birth, straightening with time (HP:0005005)

........

Lateral femoral bowing (HP:0005090)

........

Distal femoral bowing (HP:0005096)

Sister Nodes:

Fibular bowing (HP:0010502)

Genu valgum (HP:0002857)

Genu varum (HP:0002970)

Tibial bowing (HP:0002982)

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:0002980	HP:0002980	Femoral bowing	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0002980	HP:0002980	Femoral bowing	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002980	HP:0002980	Femoral bowing	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002980	HP:0002980	Femoral bowing	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0002980	HP:0002980	Femoral bowing	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0002980	HP:0002980	Femoral bowing	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent	215
HP:0002980	HP:0002980	Femoral bowing	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0002980	HP:0002980	Femoral bowing	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV		373
HP:0002980	HP:0002980	Femoral bowing	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV		243
HP:0002980	HP:0002980	Femoral bowing	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0002980	HP:0002980	Femoral bowing	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002980	HP:0002980	Femoral bowing	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0002980	HP:0002980	Femoral bowing	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002980	HP:0002980	Femoral bowing	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0002980	HP:0002980	Femoral bowing	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0002980	HP:0002980	Femoral bowing	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.	304
HP:0002980	HP:0002980	Femoral bowing	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0002980	HP:0002980	Femoral bowing	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0002980	HP:0002980	Femoral bowing	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0002980	HP:0002980	Femoral bowing	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0002980	HP:0002980	Femoral bowing	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0002980	HP:0002980	Femoral bowing	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0002980	HP:0002980	Femoral bowing	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0002980	HP:0002980	Femoral bowing	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0002980	HP:0002980	Femoral bowing	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002980	HP:0002980	Femoral bowing	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0002980	HP:0002980	Femoral bowing	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0002980	HP:0002980	Femoral bowing	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0002980	HP:0002980	Femoral bowing	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0002980	HP:0002980	Femoral bowing	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0002980	HP:0002980	Femoral bowing	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0002980	HP:0002980	Femoral bowing	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0002980	HP:0002980	Femoral bowing	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0002980	HP:0002980	Femoral bowing	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent	52
HP:0002980	HP:0002980	Femoral bowing	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0002980	HP:0002980	Femoral bowing	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0002980	HP:0002980	Femoral bowing	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002980	HP:0002980	Femoral bowing	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0002980	HP:0002980	Femoral bowing	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0002980	HP:0002980	Femoral bowing	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002980	HP:0002980	Femoral bowing	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0002980	HP:0002980	Femoral bowing	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0002980	HP:0002980	Femoral bowing	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0002980	HP:0002980	Femoral bowing	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0002980	HP:0002980	Femoral bowing	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0002980	HP:0002980	Femoral bowing	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002980	HP:0002980	Femoral bowing	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002980	HP:0002980	Femoral bowing	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0002980	HP:0002980	Femoral bowing	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0002980	HP:0002980	Femoral bowing	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0002980	HP:0002980	Femoral bowing	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0002980	HP:0002980	Femoral bowing	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0002980	HP:0002980	Femoral bowing	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0002980	HP:0002980	Femoral bowing	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002980	HP:0002980	Femoral bowing	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0002980	HP:0002980	Femoral bowing	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0002980	HP:0002980	Femoral bowing	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002980	HP:0002980	Femoral bowing	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0002980	HP:0002980	Femoral bowing	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0002980	HP:0002980	Femoral bowing	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0002980	HP:0002980	Femoral bowing	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.	4
HP:0002980	HP:0002980	Femoral bowing	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002980	HP:0002980	Femoral bowing	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0002980	HP:0002980	Femoral bowing	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0002980	HP:0005005	Femoral bowing present at birth, straightening with time	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0002980	HP:0005005	Femoral bowing present at birth, straightening with time	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0002980	HP:0005096	Distal femoral bowing	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0002980	HP:0005096	Distal femoral bowing	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0002980	HP:0005090	Lateral femoral bowing	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0002980	HP:0005096	Distal femoral bowing	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0002980	HP:0005096	Distal femoral bowing	1	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:0002980	HP:0005090	Lateral femoral bowing	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44

Genes (49) :BHLHA9 CLCN5 COL10A1 COL11A1 COL1A1 COL1A2 CYP27B1 CYP2R1 DMP1 DYM DYNC2H1 DYNC2I1 ENPP1 FGFR2 FGFR3 FLNA GDF5 GORAB LAMA5 LBR LIFR MAN2B1 MATN3 MMP13 NEK8 NEK9 NEPRO P3H1 PCYT1A PHEX PLOD2 POLR1A POR PRKG2 RBM8A RMRP RNU4ATAC RSPRY1 SCARF2 SGMS2 SLC34A3 SOX9 TENT5A TMEM38B TNFRSF11A TNFRSF11B TRPV6 VDR WNT7A

Diseases (60) :ORPHA:3329 OMIM:300009 OMIM:300554 OMIM:156500 ORPHA:174 ORPHA:440354 OMIM:166200 OMIM:166220 ORPHA:289157 OMIM:264700 OMIM:600081 ORPHA:289176 OMIM:223800 OMIM:613091 OMIM:615503 OMIM:207410 OMIM:100800 ORPHA:85165 ORPHA:1860 OMIM:187600 OMIM:311300 OMIM:304120 OMIM:201250 OMIM:231070 OMIM:620076 OMIM:618019 OMIM:601559 OMIM:248500 OMIM:608728 OMIM:602111 ORPHA:93356 OMIM:615415 OMIM:617022 OMIM:618853 OMIM:610915 OMIM:608940 OMIM:307800 OMIM:609220 OMIM:616462 OMIM:201750 ORPHA:95699 OMIM:619638 OMIM:274000 OMIM:250250 OMIM:210710 ORPHA:457395 OMIM:616723 OMIM:600920 OMIM:126550 OMIM:241530 ORPHA:140 OMIM:114290 OMIM:617952 OMIM:615066 OMIM:602080 OMIM:239000 OMIM:618188 OMIM:277440 OMIM:228930 OMIM:276820

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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