Human Phenotype Ontology

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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 carpal morphology (HP:0001191)

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

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

Parent Node:
Carpal synostosis (HP:0009702)

..Starting node
..Synostosis of carpal bones (HP:0005048)

Term ID:

5048

Name:

Synostosis of carpal bones

Synonym:

Fusion of wrist bones

Definition:

Comments:

Reference:

HP:0005048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Capitate-hamate fusion (HP:0001241)

Carpometacarpal synostosis (HP:0100328)

Partial fusion of carpals (HP:0006207)

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

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:0005048	HP:0005048	Synostosis of carpal bones	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	3179
HP:0005048	HP:0005048	Synostosis of carpal bones	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040282 - Frequent	4
HP:0005048	HP:0005048	Synostosis of carpal bones	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0005048	HP:0005048	Synostosis of carpal bones	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0005048	HP:0005048	Synostosis of carpal bones	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0005048	HP:0005048	Synostosis of carpal bones	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional	92
HP:0005048	HP:0005048	Synostosis of carpal bones	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0005048	HP:0005048	Synostosis of carpal bones	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0005048	HP:0005048	Synostosis of carpal bones	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0005048	HP:0005048	Synostosis of carpal bones	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040283 - Occasional	493
HP:0005048	HP:0005048	Synostosis of carpal bones	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0005048	HP:0005048	Synostosis of carpal bones	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0005048	HP:0005048	Synostosis of carpal bones	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0005048	HP:0005048	Synostosis of carpal bones	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0005048	HP:0005048	Synostosis of carpal bones	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0005048	HP:0005048	Synostosis of carpal bones	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0005048	HP:0005048	Synostosis of carpal bones	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0005048	HP:0005048	Synostosis of carpal bones	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	106
HP:0005048	HP:0005048	Synostosis of carpal bones	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	124
HP:0005048	HP:0005048	Synostosis of carpal bones	0	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent
HP:0005048	HP:0005048	Synostosis of carpal bones	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent	11
HP:0005048	HP:0005048	Synostosis of carpal bones	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040282 - Frequent	22
HP:0005048	HP:0005048	Synostosis of carpal bones	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0005048	HP:0005048	Synostosis of carpal bones	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0005048	HP:0005048	Synostosis of carpal bones	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0005048	HP:0005048	Synostosis of carpal bones	0	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent	8
HP:0005048	HP:0005048	Synostosis of carpal bones	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0005048	HP:0005048	Synostosis of carpal bones	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0005048	HP:0005048	Synostosis of carpal bones	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0005048	HP:0005048	Synostosis of carpal bones	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040282 - Frequent	86
HP:0005048	HP:0005048	Synostosis of carpal bones	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	67
HP:0005048	HP:0005048	Synostosis of carpal bones	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15

Genes (26) :APC BHLHA9 BMPR1B DYNC2LI1 ESCO2 EVC EVC2 FGFR2 FLNA GDF5 GLI1 HOXA13 LMBR1 LRP4 MACROH2A1 MAP3K7 NOG NXN PAX3 PITX1 PRKACA PRKACB ROR2 SALL4 SHH SMOC1

Diseases (20) :ORPHA:3258 ORPHA:157801 ORPHA:2098 ORPHA:2639 ORPHA:289 ORPHA:3103 OMIM:101200 ORPHA:90650 ORPHA:90652 OMIM:311300 ORPHA:3250 ORPHA:2438 ORPHA:988 ORPHA:1275 ORPHA:3238 ORPHA:140908 ORPHA:1507 ORPHA:896 ORPHA:2307 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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