Human Phenotype Ontology

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:0001191	HP:0001191	Abnormal carpal morphology	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0001191	HP:0001191	Abnormal carpal morphology	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0001191	HP:0001191	Abnormal carpal morphology	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0001191	HP:0001191	Abnormal carpal morphology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001191	HP:0001191	Abnormal carpal morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2		38
HP:0001191	HP:0001191	Abnormal carpal morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0001191	HP:0001191	Abnormal carpal morphology	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0001191	HP:0001191	Abnormal carpal morphology	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction		4
HP:0001191	HP:0001191	Abnormal carpal morphology	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0001191	HP:0001191	Abnormal carpal morphology	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0001191	HP:0001191	Abnormal carpal morphology	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0001191	HP:0001191	Abnormal carpal morphology	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0001191	HP:0001191	Abnormal carpal morphology	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0001191	HP:0001191	Abnormal carpal morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0001191	HP:0001191	Abnormal carpal morphology	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0001191	HP:0001191	Abnormal carpal morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0001191	HP:0001191	Abnormal carpal morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0001191	HP:0001191	Abnormal carpal morphology	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0001191	HP:0001191	Abnormal carpal morphology	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001191	HP:0001191	Abnormal carpal morphology	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0001191	HP:0001191	Abnormal carpal morphology	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001191	HP:0001191	Abnormal carpal morphology	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0001191	HP:0001191	Abnormal carpal morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0001191	HP:0001191	Abnormal carpal morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0001191	HP:0001191	Abnormal carpal morphology	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0001191	HP:0001191	Abnormal carpal morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0001191	HP:0001191	Abnormal carpal morphology	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FBLN1 CL E G H	2192	3600	OMIM:608180	Synpolydactyly 2		12
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome		145
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome		233
HP:0001191	HP:0001191	Abnormal carpal morphology	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		52
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001191	HP:0001191	Abnormal carpal morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001191	HP:0001191	Abnormal carpal morphology	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001191	HP:0001191	Abnormal carpal morphology	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001191	HP:0001191	Abnormal carpal morphology	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0001191	HP:0001191	Abnormal carpal morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001191	HP:0001191	Abnormal carpal morphology	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001191	HP:0001191	Abnormal carpal morphology	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0001191	HP:0001191	Abnormal carpal morphology	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0001191	HP:0001191	Abnormal carpal morphology	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0001191	HP:0001191	Abnormal carpal morphology	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001191	HP:0001191	Abnormal carpal morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0001191	HP:0001191	Abnormal carpal morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		106
HP:0001191	HP:0001191	Abnormal carpal morphology	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001191	HP:0001191	Abnormal carpal morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy		63
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome		11
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0001191	HP:0001191	Abnormal carpal morphology	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	HP:0040283 - Occasional	55
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0001191	HP:0001191	Abnormal carpal morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome		8
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.	8
HP:0001191	HP:0001191	Abnormal carpal morphology	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0001191	HP:0001191	Abnormal carpal morphology	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0001191	HP:0001191	Abnormal carpal morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001191	HP:0001191	Abnormal carpal morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent	445
HP:0001191	HP:0001191	Abnormal carpal morphology	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0001191	HP:0001191	Abnormal carpal morphology	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001191	HP:0001191	Abnormal carpal morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0001191	HP:0001191	Abnormal carpal morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		67
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0001191	HP:0001191	Abnormal carpal morphology	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0001191	HP:0001191	Abnormal carpal morphology	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.	123
HP:0001191	HP:0001191	Abnormal carpal morphology	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001191	HP:0001191	Abnormal carpal morphology	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0001191	HP:0001191	Abnormal carpal morphology	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001191	HP:0001191	Abnormal carpal morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001191	HP:0001191	Abnormal carpal morphology	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type		2
HP:0001191	HP:0001191	Abnormal carpal morphology	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001191	HP:0001191	Abnormal carpal morphology	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0001191	HP:0001191	Abnormal carpal morphology	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001191	HP:0004248	Abnormality of the lunate bone	1	CL E G H
HP:0001191	HP:0004239	Proximally placed carpal bones	1	CL E G H
HP:0001191	HP:0004264	Narrow carpal joint spaces	1	CL E G H
HP:0001191	HP:0005776	Carpal bone malsegmentation	1	CL E G H
HP:0001191	HP:0004256	Abnormality of the trapezoid bone	1	CL E G H
HP:0001191	HP:0041248	Fractured carpal bone	1	CL E G H
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0001191	HP:0009702	Carpal synostosis	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0001191	HP:0009702	Carpal synostosis	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001191	HP:0009702	Carpal synostosis	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	HP:0040283 - Occasional	38
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2		38
HP:0001191	HP:0009702	Carpal synostosis	1	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:0001191	HP:0006257	Abnormality of carpal bone ossification	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0001191	HP:0009702	Carpal synostosis	1	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction		4
HP:0001191	HP:0009702	Carpal synostosis	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0001191	HP:0009702	Carpal synostosis	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0001191	HP:0009702	Carpal synostosis	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0001191	HP:0009702	Carpal synostosis	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.	16
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001191	HP:0009702	Carpal synostosis	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0001191	HP:0009702	Carpal synostosis	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0001191	HP:0009702	Carpal synostosis	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0001191	HP:0009702	Carpal synostosis	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001191	HP:0009702	Carpal synostosis	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0001191	HP:0009702	Carpal synostosis	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001191	HP:0009702	Carpal synostosis	1	FBLN1 CL E G H	2192	3600	OMIM:608180	Synpolydactyly 2	.	12
HP:0001191	HP:0009702	Carpal synostosis	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0001191	HP:0009702	Carpal synostosis	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0001191	HP:0009702	Carpal synostosis	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0001191	HP:0009702	Carpal synostosis	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0001191	HP:0009702	Carpal synostosis	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0001191	HP:0009702	Carpal synostosis	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0001191	HP:0004232	Accessory carpal bones	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001191	HP:0009702	Carpal synostosis	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0001191	HP:0004232	Accessory carpal bones	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0001191	HP:0004232	Accessory carpal bones	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040282 - Frequent	233
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001191	HP:0009702	Carpal synostosis	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0001191	HP:0009702	Carpal synostosis	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040282 - Frequent	52
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0001191	HP:0009702	Carpal synostosis	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		52
HP:0001191	HP:0006092	Malaligned carpal bone	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0001191	HP:0009702	Carpal synostosis	1	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0001191	HP:0009702	Carpal synostosis	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001191	HP:0009702	Carpal synostosis	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001191	HP:0009702	Carpal synostosis	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0001191	HP:0009702	Carpal synostosis	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0001191	HP:0006014	Abnormally shaped carpal bones	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001191	HP:0004252	Abnormality of the trapezium	1	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	106
HP:0001191	HP:0004243	Abnormality of the scaphoid	1	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	106
HP:0001191	HP:0009702	Carpal synostosis	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		106
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001191	HP:0009702	Carpal synostosis	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0001191	HP:0009702	Carpal synostosis	1	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome
HP:0001191	HP:0001495	Carpal osteolysis	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0001191	HP:0001495	Carpal osteolysis	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0001191	HP:0009702	Carpal synostosis	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0001191	HP:0009702	Carpal synostosis	1	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome		11
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0001191	HP:0001495	Carpal osteolysis	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent	2
HP:0001191	HP:0001495	Carpal osteolysis	1	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0001191	HP:0001495	Carpal osteolysis	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0001191	HP:0001495	Carpal osteolysis	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent	64
HP:0001191	HP:0009702	Carpal synostosis	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0001191	HP:0009702	Carpal synostosis	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0001191	HP:0009702	Carpal synostosis	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0001191	HP:0009702	Carpal synostosis	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0001191	HP:0009702	Carpal synostosis	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0001191	HP:0009702	Carpal synostosis	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0001191	HP:0009702	Carpal synostosis	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0001191	HP:0006180	Crowded carpal bones	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0001191	HP:0009702	Carpal synostosis	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0001191	HP:0009702	Carpal synostosis	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0001191	HP:0009702	Carpal synostosis	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001191	HP:0009702	Carpal synostosis	1	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome		8
HP:0001191	HP:0009702	Carpal synostosis	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0001191	HP:0009702	Carpal synostosis	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0009702	Carpal synostosis	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0004259	Abnormality of the hamate bone	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0004262	Abnormality of the capitate bone	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0001191	HP:0009702	Carpal synostosis	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0001191	HP:0009702	Carpal synostosis	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001191	HP:0009702	Carpal synostosis	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0001191	HP:0009702	Carpal synostosis	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0001191	HP:0009702	Carpal synostosis	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0001191	HP:0004252	Abnormality of the trapezium	1	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	67
HP:0001191	HP:0004243	Abnormality of the scaphoid	1	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	67
HP:0001191	HP:0009702	Carpal synostosis	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		67
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0001191	HP:0009702	Carpal synostosis	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type		2
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001191	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0001191	HP:0006257	Abnormality of carpal bone ossification	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001191	HP:0045003	Abnormal ossification of the scaphoid	2	CL E G H
HP:0001191	HP:0004255	Small trapezium	2	CL E G H
HP:0001191	HP:0010889	Morbus Kienboeck	2	CL E G H
HP:0001191	HP:0004260	Large hamate bone	2	CL E G H
HP:0001191	HP:0006202	Osteolysis of scaphoids	2	CL E G H
HP:0001191	HP:0004238	Lytic defects of carpal bones	2	CL E G H
HP:0001191	HP:0004247	Small scaphoid	2	CL E G H
HP:0001191	HP:0004253	Absent trapezium	2	CL E G H
HP:0001191	HP:0006153	Disharmonious carpal bone	2	CL E G H
HP:0001191	HP:0004235	Comma-shaped carpal bones	2	CL E G H
HP:0001191	HP:0004258	Small trapezoid bone	2	CL E G H
HP:0001191	HP:0004263	Large capitate bone	2	CL E G H
HP:0001191	HP:0004251	Lunate-triquetral fusion	2	CL E G H
HP:0001191	HP:0006106	Absent trapezoid bone	2	CL E G H
HP:0001191	HP:0004250	Proximally placed lunate	2	CL E G H
HP:0001191	HP:0100328	Carpometacarpal synostosis	2	CL E G H
HP:0001191	HP:0045001	Abnormal ossification of the trapezium	2	CL E G H
HP:0001191	HP:0004245	Comma-shaped scaphoid	2	CL E G H
HP:0001191	HP:0004249	Accessory lunate	2	CL E G H
HP:0001191	HP:0045004	Abnormal ossification of the trapezoid bone	2	CL E G H
HP:0001191	HP:0005694	Partial fusion of proximal row of carpal bones	2	CL E G H
HP:0001191	HP:0004244	Accessory scaphoid	2	CL E G H
HP:0001191	HP:0009164	Abnormal calcification of the carpal bones	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0001191	HP:0005048	Synostosis of carpal bones	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	3179
HP:0001191	HP:0001241	Capitate-hamate fusion	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0001191	HP:0005048	Synostosis of carpal bones	2	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040282 - Frequent	4
HP:0001191	HP:0005048	Synostosis of carpal bones	2	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0001191	HP:0005048	Synostosis of carpal bones	2	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0001191	HP:0006067	Multiple carpal ossification centers	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional	284
HP:0001191	HP:0004236	Irregular carpal bones	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001191	HP:0004236	Irregular carpal bones	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001191	HP:0009164	Abnormal calcification of the carpal bones	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0001191	HP:0004237	Large carpal bones	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0001191	HP:0005048	Synostosis of carpal bones	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0001191	HP:0001241	Capitate-hamate fusion	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0001191	HP:0009164	Abnormal calcification of the carpal bones	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0001191	HP:0004236	Irregular carpal bones	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0001191	HP:0009164	Abnormal calcification of the carpal bones	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0001191	HP:0005048	Synostosis of carpal bones	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional	92
HP:0001191	HP:0001241	Capitate-hamate fusion	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0001191	HP:0005048	Synostosis of carpal bones	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0001191	HP:0001241	Capitate-hamate fusion	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0001191	HP:0005048	Synostosis of carpal bones	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0001191	HP:0001241	Capitate-hamate fusion	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0001191	HP:0001241	Capitate-hamate fusion	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001191	HP:0005048	Synostosis of carpal bones	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0001191	HP:0001241	Capitate-hamate fusion	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0001191	HP:0006207	Partial fusion of carpals	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0001191	HP:0005048	Synostosis of carpal bones	2	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040283 - Occasional	493
HP:0001191	HP:0005048	Synostosis of carpal bones	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0001191	HP:0005048	Synostosis of carpal bones	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001191	HP:0001241	Capitate-hamate fusion	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001191	HP:0006067	Multiple carpal ossification centers	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0001191	HP:0001241	Capitate-hamate fusion	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001191	HP:0005048	Synostosis of carpal bones	2	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0001191	HP:0005048	Synostosis of carpal bones	2	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0001191	HP:0005048	Synostosis of carpal bones	2	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0001191	HP:0005048	Synostosis of carpal bones	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0001191	HP:0001241	Capitate-hamate fusion	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0001191	HP:0004236	Irregular carpal bones	2	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0001191	HP:0006176	Two carpal ossification centers present at birth	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001191	HP:0006176	Two carpal ossification centers present at birth	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001191	HP:0005048	Synostosis of carpal bones	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001191	HP:0004237	Large carpal bones	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0001191	HP:0009164	Abnormal calcification of the carpal bones	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0001191	HP:0004231	Carpal bone aplasia	2	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001191	HP:0005048	Synostosis of carpal bones	2	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	106
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0001191	HP:0005048	Synostosis of carpal bones	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	124
HP:0001191	HP:0005048	Synostosis of carpal bones	2	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent
HP:0001191	HP:0005048	Synostosis of carpal bones	2	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent	11
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.	32
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0001191	HP:0005048	Synostosis of carpal bones	2	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040282 - Frequent	22
HP:0001191	HP:0005048	Synostosis of carpal bones	2	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0001191	HP:0005048	Synostosis of carpal bones	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0001191	HP:0005048	Synostosis of carpal bones	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001191	HP:0005048	Synostosis of carpal bones	2	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent	8
HP:0001191	HP:0005048	Synostosis of carpal bones	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0001191	HP:0001241	Capitate-hamate fusion	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001191	HP:0001241	Capitate-hamate fusion	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001191	HP:0005048	Synostosis of carpal bones	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001191	HP:0004231	Carpal bone aplasia	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0001191	HP:0005048	Synostosis of carpal bones	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0001191	HP:0005048	Synostosis of carpal bones	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040282 - Frequent	86
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0001191	HP:0005048	Synostosis of carpal bones	2	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040282 - Frequent	67
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0001191	HP:0009164	Abnormal calcification of the carpal bones	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0001191	HP:0005048	Synostosis of carpal bones	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0001191	HP:0001498	Carpal bone hypoplasia	2	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001191	HP:0001216	Delayed ossification of carpal bones	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.	2
HP:0001191	HP:0004231	Carpal bone aplasia	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0001191	HP:0004231	Carpal bone aplasia	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0001191	HP:0004233	Advanced ossification of carpal bones	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001191	HP:0004293	Synostosis of second metacarpal-trapezoid	3	CL E G H
HP:0001191	HP:0004247	Small scaphoid	3	CL E G H
HP:0001191	HP:0045002	Absent ossification of the trapezium	3	CL E G H
HP:0001191	HP:0004254	Delayed ossification of the trapezium	3	CL E G H
HP:0001191	HP:0004258	Small trapezoid bone	3	CL E G H
HP:0001191	HP:0004263	Large capitate bone	3	CL E G H
HP:0001191	HP:0004246	Delayed ossification of the scaphoid	3	CL E G H
HP:0001191	HP:0004234	Bone-in-a-bone appearance of carpal bones	3	CL E G H
HP:0001191	HP:0004257	Delayed ossification of the trapezoid bone	3	CL E G H
HP:0001191	HP:0004245	Comma-shaped scaphoid	3	CL E G H
HP:0001191	HP:0004261	Wide hamate bone	3	CL E G H
HP:0001191	HP:0004255	Small trapezium	3	CL E G H
HP:0001191	HP:0004260	Large hamate bone	3	CL E G H
HP:0001191	HP:0004242	Broad carpal bones	3	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0001191	HP:0004241	Stippled calcification in carpal bones	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0001191	HP:0004242	Broad carpal bones	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001191	HP:0004240	Sclerotic foci within carpal bones	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0001191	HP:0004241	Stippled calcification in carpal bones	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7
HP:0001191	HP:0011835	Absent scaphoid	3	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U	.	125
HP:0001191	HP:0004261	Wide hamate bone	4	CL E G H