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 upper limb joint (HP:0009810)

Grandparent Node:
Synostosis of joints (HP:0100240)

Parent Node:
Abnormal morphology of the radius (HP:0002818)

Parent Node:
obsolete Abnormality of the ulna (HP:0002997)

Parent Node:
Synostosis involving bones of the upper limbs (HP:0100238)

..Starting node
..Radioulnar synostosis (HP:0002974)

Term ID:

2974

Name:

Radioulnar synostosis

Synonym:

Fused forearm bones

Definition:

An abnormal osseous union (fusion) between the radius and the ulna.

Comments:

Reference:

HP:0002974

Genes and Diseases:

Child Nodes:

........

Proximal radio-ulnar synostosis (HP:0005037)

Sister Nodes:

Scapulohumeral synostosis (HP:0006595)

Synostosis involving bones of the hand (HP:0004278)

Synostosis involving the elbow (HP:0003938)

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:0002974	HP:0002974	Radioulnar synostosis	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0002974	HP:0002974	Radioulnar synostosis	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002974	HP:0002974	Radioulnar synostosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0002974	HP:0002974	Radioulnar synostosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0002974	HP:0002974	Radioulnar synostosis	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0002974	HP:0002974	Radioulnar synostosis	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0002974	HP:0002974	Radioulnar synostosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0002974	HP:0002974	Radioulnar synostosis	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0002974	HP:0002974	Radioulnar synostosis	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002974	HP:0002974	Radioulnar synostosis	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0002974	HP:0002974	Radioulnar synostosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0002974	HP:0002974	Radioulnar synostosis	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	317
HP:0002974	HP:0002974	Radioulnar synostosis	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0002974	HP:0002974	Radioulnar synostosis	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0002974	HP:0002974	Radioulnar synostosis	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0002974	HP:0002974	Radioulnar synostosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	3
HP:0002974	HP:0002974	Radioulnar synostosis	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0002974	HP:0002974	Radioulnar synostosis	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	9
HP:0002974	HP:0002974	Radioulnar synostosis	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	HP:0040283 - Occasional	9
HP:0002974	HP:0002974	Radioulnar synostosis	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0002974	HP:0002974	Radioulnar synostosis	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0002974	HP:0002974	Radioulnar synostosis	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002974	HP:0002974	Radioulnar synostosis	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0002974	HP:0002974	Radioulnar synostosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0002974	HP:0002974	Radioulnar synostosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002974	HP:0002974	Radioulnar synostosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002974	HP:0002974	Radioulnar synostosis	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0002974	HP:0002974	Radioulnar synostosis	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0002974	HP:0002974	Radioulnar synostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0002974	HP:0002974	Radioulnar synostosis	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0002974	HP:0002974	Radioulnar synostosis	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0002974	HP:0002974	Radioulnar synostosis	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002974	HP:0002974	Radioulnar synostosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002974	HP:0002974	Radioulnar synostosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002974	HP:0002974	Radioulnar synostosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002974	HP:0002974	Radioulnar synostosis	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0002974	HP:0002974	Radioulnar synostosis	0	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040281 - Very frequent	3
HP:0002974	HP:0002974	Radioulnar synostosis	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0002974	HP:0002974	Radioulnar synostosis	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	HP:0040284 - Very rare	141
HP:0002974	HP:0002974	Radioulnar synostosis	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional	141
HP:0002974	HP:0002974	Radioulnar synostosis	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	196
HP:0002974	HP:0002974	Radioulnar synostosis	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002974	HP:0002974	Radioulnar synostosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0002974	HP:0002974	Radioulnar synostosis	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0002974	HP:0002974	Radioulnar synostosis	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	43
HP:0002974	HP:0002974	Radioulnar synostosis	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0002974	HP:0002974	Radioulnar synostosis	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	21
HP:0002974	HP:0002974	Radioulnar synostosis	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	21
HP:0002974	HP:0002974	Radioulnar synostosis	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0002974	HP:0002974	Radioulnar synostosis	0	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040281 - Very frequent	4
HP:0002974	HP:0002974	Radioulnar synostosis	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0002974	HP:0002974	Radioulnar synostosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002974	HP:0002974	Radioulnar synostosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002974	HP:0002974	Radioulnar synostosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002974	HP:0002974	Radioulnar synostosis	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002974	HP:0002974	Radioulnar synostosis	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0002974	HP:0002974	Radioulnar synostosis	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	102
HP:0002974	HP:0002974	Radioulnar synostosis	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0002974	HP:0002974	Radioulnar synostosis	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0002974	HP:0002974	Radioulnar synostosis	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0002974	HP:0002974	Radioulnar synostosis	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0002974	HP:0002974	Radioulnar synostosis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0002974	HP:0002974	Radioulnar synostosis	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	291
HP:0002974	HP:0002974	Radioulnar synostosis	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0002974	HP:0002974	Radioulnar synostosis	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0002974	HP:0002974	Radioulnar synostosis	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	212
HP:0002974	HP:0002974	Radioulnar synostosis	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	3
HP:0002974	HP:0002974	Radioulnar synostosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	39
HP:0002974	HP:0002974	Radioulnar synostosis	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0002974	HP:0002974	Radioulnar synostosis	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	1
HP:0002974	HP:0002974	Radioulnar synostosis	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040282 - Frequent	86
HP:0002974	HP:0002974	Radioulnar synostosis	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0002974	HP:0002974	Radioulnar synostosis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0002974	HP:0002974	Radioulnar synostosis	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0002974	HP:0002974	Radioulnar synostosis	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent	49
HP:0002974	HP:0002974	Radioulnar synostosis	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0002974	HP:0002974	Radioulnar synostosis	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0002974	HP:0002974	Radioulnar synostosis	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	315
HP:0002974	HP:0002974	Radioulnar synostosis	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	30
HP:0002974	HP:0002974	Radioulnar synostosis	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent	28
HP:0002974	HP:0002974	Radioulnar synostosis	0	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.	28
HP:0002974	HP:0002974	Radioulnar synostosis	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0002974	HP:0002974	Radioulnar synostosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0002974	HP:0002974	Radioulnar synostosis	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0002974	HP:0002974	Radioulnar synostosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002974	HP:0002974	Radioulnar synostosis	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0002974	HP:0005037	Proximal radio-ulnar synostosis	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002974	HP:0005037	Proximal radio-ulnar synostosis	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0002974	HP:0005037	Proximal radio-ulnar synostosis	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0002974	HP:0005037	Proximal radio-ulnar synostosis	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0002974	HP:0005037	Proximal radio-ulnar synostosis	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0002974	HP:0005037	Proximal radio-ulnar synostosis	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18

Genes (78) :APC B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BICRA BRD4 BUD23 CANT1 CBL CHST3 CHSY1 CLIP2 COLEC10 COLEC11 CPLX1 CSGALNACT1 CTBP1 DHODH DNAJC30 DONSON EIF4H ELN ESCO2 FGFR2 FGFR3 FGFRL1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HOXA11 KAT6B KRAS LETM1 LIMK1 LRP4 LZTR1 MAF MASP1 MECOM METTL27 MLXIPL MRAS NCF1 NIPBL NRAS NSD2 PIEZO2 POR PTPN11 RAD21 RAF1 RASA2 RFC2 RIT1 RPL26 RRAS RRAS2 SALL4 SETBP1 SF3B4 SMC1A SMC3 SOS1 SOS2 SPRED2 STX1A TBL2 TBX22 TBX5 TMEM270 TWIST1 VPS37D XYLT1

Diseases (49) :ORPHA:3258 OMIM:609465 ORPHA:536467 ORPHA:2725 OMIM:245600 OMIM:130070 ORPHA:904 OMIM:300166 ORPHA:2712 OMIM:619325 ORPHA:199 ORPHA:1425 ORPHA:648 OMIM:605282 ORPHA:363417 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:194190 OMIM:263750 OMIM:617604 OMIM:194050 ORPHA:2319 ORPHA:3103 OMIM:101400 ORPHA:794 ORPHA:71289 OMIM:605432 OMIM:606170 ORPHA:85201 OMIM:212780 ORPHA:1272 OMIM:601088 OMIM:257920 OMIM:616738 OMIM:248700 ORPHA:2461 OMIM:201750 ORPHA:95699 OMIM:614701 OMIM:614900 ORPHA:2307 OMIM:147750 ORPHA:798 OMIM:154400 ORPHA:1788 ORPHA:921 OMIM:302905 ORPHA:392

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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