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:
obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Parent Node:
Abnormality of the upper limb (HP:0002817)

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

..Starting node
..Bowing of the arm (HP:0006488)

Term ID:

6488

Name:

Bowing of the arm

Synonym:

Bending of the arm; Bowing of the arm

Definition:

A bending or abnormal curvature affecting a long bone of the arm.

Comments:

Reference:

HP:0006488

Genes and Diseases:

Child Nodes:

........

Bowed humerus (HP:0003865)

........

Bowed forearm bones (HP:0003956)

................... HP:0002986 Radial bowing
................... HP:0003031 Ulnar bowing
................... HP:0005891 Progressive forearm bowing

Sister Nodes:

Anterior bowing of long bones (HP:0006473)

Bowing of the legs (HP:0002979)

Progressive bowing of long bones (HP:0006383)

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:0006488	HP:0006488	Bowing of the arm	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0006488	HP:0006488	Bowing of the arm	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0006488	HP:0006488	Bowing of the arm	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0006488	HP:0006488	Bowing of the arm	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0006488	HP:0006488	Bowing of the arm	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006488	HP:0006488	Bowing of the arm	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0006488	HP:0006488	Bowing of the arm	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0006488	HP:0006488	Bowing of the arm	0	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0006488	HP:0006488	Bowing of the arm	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0006488	HP:0006488	Bowing of the arm	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0006488	HP:0006488	Bowing of the arm	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0006488	HP:0006488	Bowing of the arm	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0006488	HP:0006488	Bowing of the arm	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0006488	HP:0006488	Bowing of the arm	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0006488	HP:0006488	Bowing of the arm	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0006488	HP:0006488	Bowing of the arm	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0006488	HP:0006488	Bowing of the arm	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0006488	HP:0006488	Bowing of the arm	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0006488	HP:0006488	Bowing of the arm	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0006488	HP:0006488	Bowing of the arm	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0006488	HP:0006488	Bowing of the arm	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006488	HP:0006488	Bowing of the arm	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0006488	HP:0006488	Bowing of the arm	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0006488	HP:0006488	Bowing of the arm	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0006488	HP:0006488	Bowing of the arm	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0006488	HP:0006488	Bowing of the arm	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0006488	HP:0006488	Bowing of the arm	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0006488	HP:0006488	Bowing of the arm	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0006488	HP:0006488	Bowing of the arm	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006488	HP:0006488	Bowing of the arm	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006488	HP:0006488	Bowing of the arm	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0006488	HP:0006488	Bowing of the arm	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0006488	HP:0006488	Bowing of the arm	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0006488	HP:0006488	Bowing of the arm	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0006488	HP:0006488	Bowing of the arm	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006488	HP:0006488	Bowing of the arm	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0006488	HP:0006488	Bowing of the arm	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0006488	HP:0006488	Bowing of the arm	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0006488	HP:0006488	Bowing of the arm	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0006488	HP:0006488	Bowing of the arm	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0006488	HP:0006488	Bowing of the arm	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0006488	HP:0006488	Bowing of the arm	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0006488	HP:0006488	Bowing of the arm	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0006488	HP:0006488	Bowing of the arm	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0006488	HP:0006488	Bowing of the arm	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006488	HP:0006488	Bowing of the arm	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0006488	HP:0006488	Bowing of the arm	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0006488	HP:0006488	Bowing of the arm	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0006488	HP:0003956	Bowed forearm bones	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0006488	HP:0003865	Bowed humerus	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0006488	HP:0003956	Bowed forearm bones	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0006488	HP:0003956	Bowed forearm bones	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0006488	HP:0003956	Bowed forearm bones	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0006488	HP:0003956	Bowed forearm bones	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0006488	HP:0003956	Bowed forearm bones	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0006488	HP:0003956	Bowed forearm bones	1	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0006488	HP:0003956	Bowed forearm bones	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0006488	HP:0003956	Bowed forearm bones	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0006488	HP:0003956	Bowed forearm bones	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0006488	HP:0003956	Bowed forearm bones	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0006488	HP:0003956	Bowed forearm bones	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0006488	HP:0003865	Bowed humerus	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0006488	HP:0003956	Bowed forearm bones	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0006488	HP:0003956	Bowed forearm bones	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0006488	HP:0003956	Bowed forearm bones	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0006488	HP:0003956	Bowed forearm bones	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0006488	HP:0003865	Bowed humerus	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0006488	HP:0003865	Bowed humerus	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006488	HP:0003956	Bowed forearm bones	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006488	HP:0003865	Bowed humerus	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0006488	HP:0003956	Bowed forearm bones	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0006488	HP:0003956	Bowed forearm bones	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0006488	HP:0003956	Bowed forearm bones	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0006488	HP:0003956	Bowed forearm bones	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0006488	HP:0003956	Bowed forearm bones	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0006488	HP:0003956	Bowed forearm bones	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0006488	HP:0003956	Bowed forearm bones	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0006488	HP:0003956	Bowed forearm bones	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006488	HP:0003956	Bowed forearm bones	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006488	HP:0003956	Bowed forearm bones	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0006488	HP:0003956	Bowed forearm bones	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0006488	HP:0003865	Bowed humerus	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0006488	HP:0003956	Bowed forearm bones	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0006488	HP:0003865	Bowed humerus	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0006488	HP:0003956	Bowed forearm bones	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0006488	HP:0003956	Bowed forearm bones	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0006488	HP:0003956	Bowed forearm bones	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0006488	HP:0003956	Bowed forearm bones	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0006488	HP:0003956	Bowed forearm bones	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0006488	HP:0003956	Bowed forearm bones	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0006488	HP:0003956	Bowed forearm bones	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0006488	HP:0003956	Bowed forearm bones	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006488	HP:0003956	Bowed forearm bones	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0006488	HP:0003956	Bowed forearm bones	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0006488	HP:0003956	Bowed forearm bones	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0006488	HP:0005891	Progressive forearm bowing	2	CL E G H
HP:0006488	HP:0002986	Radial bowing	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0006488	HP:0002986	Radial bowing	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0006488	HP:0003031	Ulnar bowing	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0006488	HP:0003031	Ulnar bowing	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0006488	HP:0002986	Radial bowing	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0006488	HP:0002986	Radial bowing	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0006488	HP:0002986	Radial bowing	2	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0006488	HP:0003031	Ulnar bowing	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0006488	HP:0002986	Radial bowing	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0006488	HP:0003031	Ulnar bowing	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0006488	HP:0003031	Ulnar bowing	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0006488	HP:0002986	Radial bowing	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0006488	HP:0002986	Radial bowing	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0006488	HP:0002986	Radial bowing	2	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0006488	HP:0002986	Radial bowing	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0006488	HP:0002986	Radial bowing	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0006488	HP:0002986	Radial bowing	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0006488	HP:0003031	Ulnar bowing	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0006488	HP:0003031	Ulnar bowing	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0006488	HP:0002986	Radial bowing	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0006488	HP:0003031	Ulnar bowing	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006488	HP:0002986	Radial bowing	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0006488	HP:0002986	Radial bowing	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0006488	HP:0003031	Ulnar bowing	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0006488	HP:0002986	Radial bowing	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0006488	HP:0002986	Radial bowing	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0006488	HP:0003031	Ulnar bowing	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0006488	HP:0002986	Radial bowing	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0006488	HP:0003031	Ulnar bowing	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0006488	HP:0003031	Ulnar bowing	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0006488	HP:0002986	Radial bowing	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006488	HP:0003031	Ulnar bowing	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0006488	HP:0003031	Ulnar bowing	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006488	HP:0003031	Ulnar bowing	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0006488	HP:0003031	Ulnar bowing	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0006488	HP:0002986	Radial bowing	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0006488	HP:0003031	Ulnar bowing	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0006488	HP:0002986	Radial bowing	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0006488	HP:0003031	Ulnar bowing	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0006488	HP:0002986	Radial bowing	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0006488	HP:0002986	Radial bowing	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0006488	HP:0003031	Ulnar bowing	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0006488	HP:0002986	Radial bowing	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0006488	HP:0002986	Radial bowing	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0006488	HP:0002986	Radial bowing	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0006488	HP:0003031	Ulnar bowing	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006488	HP:0002986	Radial bowing	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0006488	HP:0002986	Radial bowing	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent	13
HP:0006488	HP:0002986	Radial bowing	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13

Genes (40) :B2M B3GALT6 CHST3 CILK1 COL11A1 COL2A1 FGF23 FGFR2 FGFR3 FLNA FLNB GDF5 GLI3 HOXA11 IFT43 KDELR2 KIAA0753 LAMA5 LBR MMP13 NPR2 P3H1 PCNT POR PRKG2 RBM8A RECQL4 RIPK4 RNU4ATAC ROR2 RSPO2 SCARF2 SHOX SLC26A2 SP7 TMEM67 TRIP11 TRPV4 VPS35L WNT7A

Diseases (47) :OMIM:241600 OMIM:609465 OMIM:271640 OMIM:143095 OMIM:612651 OMIM:154780 OMIM:151210 OMIM:617993 OMIM:207410 OMIM:100800 OMIM:304120 OMIM:108720 OMIM:108721 OMIM:272460 OMIM:201250 ORPHA:672 OMIM:605432 OMIM:617866 OMIM:619131 OMIM:619479 OMIM:620076 OMIM:618019 OMIM:602111 OMIM:602875 OMIM:610915 OMIM:210720 OMIM:201750 OMIM:619636 OMIM:274000 OMIM:218600 OMIM:263650 OMIM:210710 OMIM:268310 OMIM:618022 OMIM:600920 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:93307 OMIM:613849 OMIM:602152 OMIM:200600 ORPHA:93314 OMIM:619135 OMIM:228930 ORPHA:2879 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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