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:
Synostosis of joints (HP:0100240)

Parent Node:
Abnormal carpal morphology (HP:0001191)

Parent Node:
Synostosis involving bones of the hand (HP:0004278)

Parent Node:
Synostosis of carpals/tarsals (HP:0100266)

..Starting node
..Carpal synostosis (HP:0009702)

Term ID:

9702

Name:

Carpal synostosis

Synonym:

Carpal bone fusion; Carpal fusion; Fused carpal bones; Fused wrist bones; Fusion of carpal bones; Synostosis involving the carpal bones

Definition:

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).

Comments:

Reference:

HP:0009702

Genes and Diseases:

Child Nodes:

........

Capitate-hamate fusion (HP:0001241)

........

Synostosis of carpal bones (HP:0005048)

........

Partial fusion of proximal row of carpal bones (HP:0005694)

........

Partial fusion of carpals (HP:0006207)

........

Carpometacarpal synostosis (HP:0100328)

................... HP:0004293 Synostosis of second metacarpal-trapezoid

Sister Nodes:

Tarsal synostosis (HP:0008368)

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:0009702	HP:0009702	Carpal synostosis	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0009702	HP:0009702	Carpal synostosis	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0009702	HP:0009702	Carpal synostosis	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	HP:0040283 - Occasional	38
HP:0009702	HP:0009702	Carpal synostosis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	HP:0040283 - Occasional	38
HP:0009702	HP:0009702	Carpal synostosis	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction		4
HP:0009702	HP:0009702	Carpal synostosis	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0009702	HP:0009702	Carpal synostosis	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0009702	HP:0009702	Carpal synostosis	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0009702	HP:0009702	Carpal synostosis	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.	16
HP:0009702	HP:0009702	Carpal synostosis	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0009702	HP:0009702	Carpal synostosis	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0009702	HP:0009702	Carpal synostosis	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0009702	HP:0009702	Carpal synostosis	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0009702	HP:0009702	Carpal synostosis	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0009702	HP:0009702	Carpal synostosis	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0009702	HP:0009702	Carpal synostosis	0	FBLN1 CL E G H	2192	3600	OMIM:608180	Synpolydactyly 2	.	12
HP:0009702	HP:0009702	Carpal synostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0009702	HP:0009702	Carpal synostosis	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0009702	HP:0009702	Carpal synostosis	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0009702	HP:0009702	Carpal synostosis	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0009702	HP:0009702	Carpal synostosis	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0009702	HP:0009702	Carpal synostosis	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0009702	HP:0009702	Carpal synostosis	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0009702	HP:0009702	Carpal synostosis	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0009702	HP:0009702	Carpal synostosis	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0009702	HP:0009702	Carpal synostosis	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		52
HP:0009702	HP:0009702	Carpal synostosis	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0009702	HP:0009702	Carpal synostosis	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0009702	HP:0009702	Carpal synostosis	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0009702	HP:0009702	Carpal synostosis	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009702	HP:0009702	Carpal synostosis	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0009702	HP:0009702	Carpal synostosis	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		106
HP:0009702	HP:0009702	Carpal synostosis	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0009702	HP:0009702	Carpal synostosis	0	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome
HP:0009702	HP:0009702	Carpal synostosis	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome		11
HP:0009702	HP:0009702	Carpal synostosis	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0009702	HP:0009702	Carpal synostosis	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0009702	HP:0009702	Carpal synostosis	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0009702	HP:0009702	Carpal synostosis	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009702	HP:0009702	Carpal synostosis	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009702	HP:0009702	Carpal synostosis	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0009702	HP:0009702	Carpal synostosis	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0009702	HP:0009702	Carpal synostosis	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009702	HP:0009702	Carpal synostosis	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0009702	HP:0009702	Carpal synostosis	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0009702	HP:0009702	Carpal synostosis	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0009702	HP:0009702	Carpal synostosis	0	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome		8
HP:0009702	HP:0009702	Carpal synostosis	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0009702	HP:0009702	Carpal synostosis	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0009702	HP:0009702	Carpal synostosis	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0009702	HP:0009702	Carpal synostosis	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0009702	HP:0009702	Carpal synostosis	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0009702	HP:0009702	Carpal synostosis	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0009702	HP:0009702	Carpal synostosis	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0009702	HP:0009702	Carpal synostosis	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009702	HP:0009702	Carpal synostosis	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		67
HP:0009702	HP:0009702	Carpal synostosis	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0009702	HP:0100328	Carpometacarpal synostosis	1	CL E G H
HP:0009702	HP:0005694	Partial fusion of proximal row of carpal bones	1	CL E G H
HP:0009702	HP:0005048	Synostosis of carpal bones	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	3179
HP:0009702	HP:0001241	Capitate-hamate fusion	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0009702	HP:0005048	Synostosis of carpal bones	1	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040282 - Frequent	4
HP:0009702	HP:0005048	Synostosis of carpal bones	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0009702	HP:0005048	Synostosis of carpal bones	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0009702	HP:0001241	Capitate-hamate fusion	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0009702	HP:0005048	Synostosis of carpal bones	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0009702	HP:0005048	Synostosis of carpal bones	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional	92
HP:0009702	HP:0005048	Synostosis of carpal bones	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0009702	HP:0001241	Capitate-hamate fusion	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0009702	HP:0001241	Capitate-hamate fusion	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0009702	HP:0001241	Capitate-hamate fusion	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0009702	HP:0005048	Synostosis of carpal bones	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0009702	HP:0001241	Capitate-hamate fusion	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0009702	HP:0005048	Synostosis of carpal bones	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0009702	HP:0001241	Capitate-hamate fusion	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0009702	HP:0006207	Partial fusion of carpals	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0009702	HP:0005048	Synostosis of carpal bones	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040283 - Occasional	493
HP:0009702	HP:0005048	Synostosis of carpal bones	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0009702	HP:0005048	Synostosis of carpal bones	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0009702	HP:0001241	Capitate-hamate fusion	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0009702	HP:0001241	Capitate-hamate fusion	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0009702	HP:0005048	Synostosis of carpal bones	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0009702	HP:0005048	Synostosis of carpal bones	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0009702	HP:0005048	Synostosis of carpal bones	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0009702	HP:0001241	Capitate-hamate fusion	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0009702	HP:0005048	Synostosis of carpal bones	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0009702	HP:0005048	Synostosis of carpal bones	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0009702	HP:0005048	Synostosis of carpal bones	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	106
HP:0009702	HP:0005048	Synostosis of carpal bones	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	124
HP:0009702	HP:0005048	Synostosis of carpal bones	1	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent
HP:0009702	HP:0005048	Synostosis of carpal bones	1	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent	11
HP:0009702	HP:0005048	Synostosis of carpal bones	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040282 - Frequent	22
HP:0009702	HP:0005048	Synostosis of carpal bones	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0009702	HP:0005048	Synostosis of carpal bones	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0009702	HP:0005048	Synostosis of carpal bones	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0009702	HP:0005048	Synostosis of carpal bones	1	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent	8
HP:0009702	HP:0001241	Capitate-hamate fusion	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0009702	HP:0005048	Synostosis of carpal bones	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0009702	HP:0001241	Capitate-hamate fusion	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0009702	HP:0005048	Synostosis of carpal bones	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0009702	HP:0005048	Synostosis of carpal bones	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0009702	HP:0005048	Synostosis of carpal bones	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040282 - Frequent	86
HP:0009702	HP:0005048	Synostosis of carpal bones	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	67
HP:0009702	HP:0005048	Synostosis of carpal bones	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0009702	HP:0004293	Synostosis of second metacarpal-trapezoid	2	CL E G H

Genes (37) :APC ATP7A B3GALT6 BHLHA9 BMPR1B CHSY1 DYNC2LI1 ESCO2 EVC EVC2 FBLN1 FGFR2 FGFR3 FLNA FLNB GDF5 GLI1 HOXA13 HOXD13 LMBR1 LRP4 MACROH2A1 MAP3K7 MYH3 NOG NXN PAX3 PITX1 POR PRKACA PRKACB RBM8A RECQL4 ROR2 SALL4 SHH SMOC1

Diseases (44) :ORPHA:3258 OMIM:304150 OMIM:615349 OMIM:271640 ORPHA:157801 OMIM:609441 ORPHA:2098 ORPHA:2639 OMIM:605282 ORPHA:289 ORPHA:3103 OMIM:225500 OMIM:608180 OMIM:101200 OMIM:602849 ORPHA:53271 OMIM:305620 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:272460 OMIM:610017 ORPHA:3250 ORPHA:2438 OMIM:186300 ORPHA:988 ORPHA:1275 ORPHA:3238 OMIM:157800 OMIM:178110 ORPHA:140908 OMIM:611377 OMIM:186500 OMIM:185800 OMIM:186570 ORPHA:1507 ORPHA:896 OMIM:148820 OMIM:201750 OMIM:274000 OMIM:218600 ORPHA:2307 OMIM:147750 ORPHA:1106

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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