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:
Flexion contracture of finger (HP:0012785)

Parent Node:
Abnormal phalangeal joint morphology of the hand (HP:0006261)

Parent Node:
Camptodactyly (HP:0012385)

Parent Node:
Interphalangeal joint contracture of finger (HP:0001220)

..Starting node
..Camptodactyly of finger (HP:0100490)

Term ID:

100490

Name:

Camptodactyly of finger

Synonym:

Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures

Definition:

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Comments:

Reference:

HP:0100490

Genes and Diseases:

Child Nodes:

........

Camptodactyly of 2nd-5th fingers (HP:0001215)

................... HP:0030675 Contracture of proximal interphalangeal joints of 2nd-5th fingers

........

Bilateral camptodactyly (HP:0005617)

........

Congenital finger flexion contractures (HP:0005879)

........

Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)

........

Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)

........

Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)

........

Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)

Sister Nodes:

Contracture of the distal interphalangeal joint of the fingers (HP:0009697)

Contractures of the interphalangeal joint of the thumb (HP:0009626)

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:0100490	HP:0100490	Camptodactyly of finger	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0100490	HP:0100490	Camptodactyly of finger	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0100490	HP:0100490	Camptodactyly of finger	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0100490	HP:0100490	Camptodactyly of finger	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0100490	HP:0100490	Camptodactyly of finger	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0100490	HP:0100490	Camptodactyly of finger	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0100490	HP:0100490	Camptodactyly of finger	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0100490	HP:0100490	Camptodactyly of finger	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100490	HP:0100490	Camptodactyly of finger	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional	219
HP:0100490	HP:0100490	Camptodactyly of finger	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100490	HP:0100490	Camptodactyly of finger	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100490	HP:0100490	Camptodactyly of finger	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0100490	HP:0100490	Camptodactyly of finger	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0100490	HP:0100490	Camptodactyly of finger	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0100490	HP:0100490	Camptodactyly of finger	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0100490	HP:0100490	Camptodactyly of finger	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0100490	HP:0100490	Camptodactyly of finger	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0100490	HP:0100490	Camptodactyly of finger	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0100490	HP:0100490	Camptodactyly of finger	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0100490	HP:0100490	Camptodactyly of finger	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0100490	HP:0100490	Camptodactyly of finger	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0100490	HP:0100490	Camptodactyly of finger	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0100490	HP:0100490	Camptodactyly of finger	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0100490	HP:0100490	Camptodactyly of finger	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0100490	HP:0100490	Camptodactyly of finger	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	215
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	222
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0100490	HP:0100490	Camptodactyly of finger	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0100490	HP:0100490	Camptodactyly of finger	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0100490	HP:0100490	Camptodactyly of finger	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0100490	HP:0100490	Camptodactyly of finger	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0100490	HP:0100490	Camptodactyly of finger	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0100490	HP:0100490	Camptodactyly of finger	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent	59
HP:0100490	HP:0100490	Camptodactyly of finger	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0100490	HP:0100490	Camptodactyly of finger	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0100490	HP:0100490	Camptodactyly of finger	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0100490	HP:0100490	Camptodactyly of finger	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0100490	HP:0100490	Camptodactyly of finger	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0100490	HP:0100490	Camptodactyly of finger	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0100490	HP:0100490	Camptodactyly of finger	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent	2
HP:0100490	HP:0100490	Camptodactyly of finger	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0100490	HP:0100490	Camptodactyly of finger	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0100490	HP:0100490	Camptodactyly of finger	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0100490	HP:0100490	Camptodactyly of finger	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0100490	HP:0100490	Camptodactyly of finger	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0100490	HP:0100490	Camptodactyly of finger	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0100490	HP:0100490	Camptodactyly of finger	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0100490	HP:0100490	Camptodactyly of finger	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0100490	HP:0100490	Camptodactyly of finger	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0100490	HP:0100490	Camptodactyly of finger	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent	655
HP:0100490	HP:0100490	Camptodactyly of finger	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0100490	HP:0100490	Camptodactyly of finger	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100490	HP:0100490	Camptodactyly of finger	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0100490	HP:0100490	Camptodactyly of finger	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0100490	HP:0100490	Camptodactyly of finger	0	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent	145
HP:0100490	HP:0100490	Camptodactyly of finger	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent	184
HP:0100490	HP:0100490	Camptodactyly of finger	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0100490	HP:0100490	Camptodactyly of finger	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0100490	HP:0100490	Camptodactyly of finger	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0100490	HP:0100490	Camptodactyly of finger	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0100490	HP:0100490	Camptodactyly of finger	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0100490	HP:0100490	Camptodactyly of finger	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0100490	HP:0100490	Camptodactyly of finger	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0100490	HP:0100490	Camptodactyly of finger	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0100490	HP:0100490	Camptodactyly of finger	0	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3	HP:0040282 - Frequent	68
HP:0100490	HP:0100490	Camptodactyly of finger	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0100490	HP:0100490	Camptodactyly of finger	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0100490	HP:0100490	Camptodactyly of finger	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0100490	HP:0100490	Camptodactyly of finger	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0100490	HP:0100490	Camptodactyly of finger	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0100490	HP:0100490	Camptodactyly of finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040282 - Frequent	25
HP:0100490	HP:0100490	Camptodactyly of finger	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0100490	HP:0100490	Camptodactyly of finger	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0100490	HP:0100490	Camptodactyly of finger	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0100490	HP:0100490	Camptodactyly of finger	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent	86
HP:0100490	HP:0100490	Camptodactyly of finger	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent	86
HP:0100490	HP:0100490	Camptodactyly of finger	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0100490	HP:0100490	Camptodactyly of finger	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0100490	HP:0100490	Camptodactyly of finger	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0100490	HP:0100490	Camptodactyly of finger	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0100490	HP:0100490	Camptodactyly of finger	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0100490	HP:0100490	Camptodactyly of finger	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0100490	HP:0100490	Camptodactyly of finger	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0100490	HP:0100490	Camptodactyly of finger	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0100490	HP:0100490	Camptodactyly of finger	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0100490	HP:0100490	Camptodactyly of finger	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040282 - Frequent	134
HP:0100490	HP:0100490	Camptodactyly of finger	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100490	HP:0100490	Camptodactyly of finger	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0100490	HP:0100490	Camptodactyly of finger	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0100490	HP:0100490	Camptodactyly of finger	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0100490	HP:0100490	Camptodactyly of finger	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0100490	HP:0100490	Camptodactyly of finger	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0100490	HP:0100490	Camptodactyly of finger	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	106
HP:0100490	HP:0100490	Camptodactyly of finger	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0100490	HP:0100490	Camptodactyly of finger	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040282 - Frequent	63
HP:0100490	HP:0100490	Camptodactyly of finger	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0100490	HP:0100490	Camptodactyly of finger	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0100490	HP:0100490	Camptodactyly of finger	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100490	HP:0100490	Camptodactyly of finger	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0100490	HP:0100490	Camptodactyly of finger	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0100490	HP:0100490	Camptodactyly of finger	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0100490	HP:0100490	Camptodactyly of finger	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0100490	HP:0100490	Camptodactyly of finger	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0100490	HP:0100490	Camptodactyly of finger	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0100490	HP:0100490	Camptodactyly of finger	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0100490	HP:0100490	Camptodactyly of finger	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0100490	HP:0100490	Camptodactyly of finger	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	66
HP:0100490	HP:0100490	Camptodactyly of finger	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0100490	HP:0100490	Camptodactyly of finger	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	166
HP:0100490	HP:0100490	Camptodactyly of finger	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0100490	HP:0100490	Camptodactyly of finger	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0100490	HP:0100490	Camptodactyly of finger	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0100490	HP:0100490	Camptodactyly of finger	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	48
HP:0100490	HP:0100490	Camptodactyly of finger	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0100490	HP:0100490	Camptodactyly of finger	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0100490	HP:0100490	Camptodactyly of finger	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0100490	HP:0100490	Camptodactyly of finger	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent	187
HP:0100490	HP:0100490	Camptodactyly of finger	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0100490	HP:0100490	Camptodactyly of finger	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100490	HP:0100490	Camptodactyly of finger	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0100490	HP:0100490	Camptodactyly of finger	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0100490	HP:0100490	Camptodactyly of finger	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0100490	HP:0100490	Camptodactyly of finger	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0100490	HP:0100490	Camptodactyly of finger	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0100490	HP:0100490	Camptodactyly of finger	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0100490	HP:0100490	Camptodactyly of finger	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0100490	HP:0100490	Camptodactyly of finger	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0100490	HP:0100490	Camptodactyly of finger	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100490	HP:0100490	Camptodactyly of finger	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040282 - Frequent	59
HP:0100490	HP:0100490	Camptodactyly of finger	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0100490	HP:0100490	Camptodactyly of finger	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0100490	HP:0100490	Camptodactyly of finger	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	169
HP:0100490	HP:0100490	Camptodactyly of finger	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	98
HP:0100490	HP:0100490	Camptodactyly of finger	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0100490	HP:0100490	Camptodactyly of finger	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0100490	HP:0100490	Camptodactyly of finger	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0100490	HP:0100490	Camptodactyly of finger	0	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040281 - Very frequent	77
HP:0100490	HP:0100490	Camptodactyly of finger	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent	77
HP:0100490	HP:0100490	Camptodactyly of finger	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0100490	HP:0100490	Camptodactyly of finger	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0100490	HP:0100490	Camptodactyly of finger	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0100490	HP:0100490	Camptodactyly of finger	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0100490	HP:0100490	Camptodactyly of finger	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100490	HP:0100490	Camptodactyly of finger	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0100490	HP:0100490	Camptodactyly of finger	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0100490	HP:0100490	Camptodactyly of finger	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0100490	HP:0100490	Camptodactyly of finger	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0100490	HP:0100490	Camptodactyly of finger	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0100490	HP:0100490	Camptodactyly of finger	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0100490	HP:0100490	Camptodactyly of finger	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0100490	HP:0100490	Camptodactyly of finger	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0100490	HP:0100490	Camptodactyly of finger	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0100490	HP:0100490	Camptodactyly of finger	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0100490	HP:0100490	Camptodactyly of finger	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0100490	HP:0100490	Camptodactyly of finger	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0100490	HP:0100490	Camptodactyly of finger	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100490	HP:0100490	Camptodactyly of finger	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0100490	HP:0100490	Camptodactyly of finger	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	67
HP:0100490	HP:0100490	Camptodactyly of finger	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0100490	HP:0100490	Camptodactyly of finger	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0100490	HP:0100490	Camptodactyly of finger	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0100490	HP:0100490	Camptodactyly of finger	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0100490	HP:0100490	Camptodactyly of finger	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0100490	HP:0100490	Camptodactyly of finger	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100490	HP:0100490	Camptodactyly of finger	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0100490	HP:0100490	Camptodactyly of finger	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.	2
HP:0100490	HP:0100490	Camptodactyly of finger	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0100490	HP:0100490	Camptodactyly of finger	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0100490	HP:0100490	Camptodactyly of finger	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent	6
HP:0100490	HP:0100490	Camptodactyly of finger	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0100490	HP:0100490	Camptodactyly of finger	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0100490	HP:0100490	Camptodactyly of finger	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0100490	HP:0100490	Camptodactyly of finger	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0100490	HP:0100490	Camptodactyly of finger	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0100490	HP:0100490	Camptodactyly of finger	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0100490	HP:0100490	Camptodactyly of finger	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0100490	HP:0100490	Camptodactyly of finger	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0100490	HP:0100490	Camptodactyly of finger	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0100490	HP:0100490	Camptodactyly of finger	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0100490	HP:0100490	Camptodactyly of finger	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0100490	HP:0100490	Camptodactyly of finger	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100490	HP:0100490	Camptodactyly of finger	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0100490	HP:0100490	Camptodactyly of finger	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0100490	HP:0100490	Camptodactyly of finger	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0100490	HP:0100490	Camptodactyly of finger	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0100490	HP:0100490	Camptodactyly of finger	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0100490	HP:0100490	Camptodactyly of finger	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	37
HP:0100490	HP:0100490	Camptodactyly of finger	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	43
HP:0100490	HP:0100490	Camptodactyly of finger	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0100490	HP:0100490	Camptodactyly of finger	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100490	HP:0100490	Camptodactyly of finger	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	54
HP:0100490	HP:0100490	Camptodactyly of finger	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100490	HP:0100490	Camptodactyly of finger	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0100490	HP:0100490	Camptodactyly of finger	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0100490	HP:0100490	Camptodactyly of finger	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0100490	HP:0100490	Camptodactyly of finger	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional	64
HP:0100490	HP:0100490	Camptodactyly of finger	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0100490	HP:0100490	Camptodactyly of finger	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100490	HP:0100490	Camptodactyly of finger	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0100490	HP:0100490	Camptodactyly of finger	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100490	HP:0100490	Camptodactyly of finger	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0100490	HP:0100490	Camptodactyly of finger	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0100490	HP:0100490	Camptodactyly of finger	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0100490	HP:0100490	Camptodactyly of finger	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10
HP:0100490	HP:0100490	Camptodactyly of finger	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0100490	HP:0100490	Camptodactyly of finger	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0100490	HP:0005617	Bilateral camptodactyly	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0100490	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100490	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0100490	HP:0005617	Bilateral camptodactyly	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100490	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0100490	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0100490	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0100490	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0100490	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0100490	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0100490	HP:0005617	Bilateral camptodactyly	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0100490	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0100490	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0100490	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0100490	HP:0005617	Bilateral camptodactyly	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0100490	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0100490	HP:0001215	Camptodactyly of 2nd-5th fingers	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0100490	HP:0005617	Bilateral camptodactyly	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0100490	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0100490	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0100490	HP:0001215	Camptodactyly of 2nd-5th fingers	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0100490	HP:0001215	Camptodactyly of 2nd-5th fingers	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0100490	HP:0005879	Congenital finger flexion contractures	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100490	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0100490	HP:0005617	Bilateral camptodactyly	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0100490	HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	2	CL E G H

Genes (189) :ACTG2 ADAMTS3 ADAMTSL2 ADAT3 ALX1 ALX3 ANTXR2 APC2 ARID1B ARPC4 ASXL3 BCOR BCR CANT1 CAPN3 CASZ1 CCBE1 CCN6 CDC45 CDC6 CDT1 CHRNG CHST3 CLCF1 COG5 COL11A1 COL11A2 COL12A1 COL6A1 COL6A2 COL6A3 CRKL CRLF1 CSGALNACT1 CTDP1 CUL4B DHODH DLL3 DOK7 DVL1 DVL3 EED EFNB1 EMG1 ERCC1 ERCC2 ERCC5 ERCC6 EZH2 FAT4 FBN1 FBN2 FBXO28 FERMT1 FGD1 FGFR3 FKTN FLNA FZD2 GABRD GDF5 GJA1 GMNN GPC3 GPC4 GPKOW H4C9 HES7 HINT1 HOXD13 HSPG2 IDS IDUA IGHMBP2 IKBKG IPO8 KAT6B KCNAB2 KCNK9 KDM5B KDM5C L1CAM LAGE3 LAMB3 LFNG LIFR LMBR1 LMNA LUZP1 MAFB MAP3K7 MAPK1 MBTPS2 MED12 MED25 MEGF10 MESP2 MKS1 MMP23B MORC2 MUSK MYBPC1 MYH3 MYL11 MYOD1 NAA10 NALCN NLRP3 NOD2 NOG NSD1 NUP107 NUP133 NUP88 NXN OCRL ORC1 ORC4 ORC6 OSGEP PAX3 PDPN PEX1 PEX6 PIEZO2 PIGL PLOD3 POLR3A POLR3GL PORCN PRDM16 PRG4 PRKCZ PSMB8 RAB3GAP1 RAPSN RERE RIPPLY2 ROR2 RPL10 RTTN SCARF2 SETD2 SH3PXD2B SHH SKI SLC18A3 SLC26A2 SLC29A3 SLC35A2 SLC35A3 SLC39A13 SMAD3 SMARCAD1 SMC1A SMG9 SMOC1 SPEN SUZ12 TBC1D2B TBR1 TBX3 TCTN3 TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMEM70 TNNI2 TNNT3 TOR1AIP1 TP53RK TPM2 TPRKB TRPS1 TRPV4 TUBA1A TUBB3 TWIST2 UBE4B UPF3B WDR4 WDR73 WNT5A XYLT1 ZDHHC9 ZMPSTE24 ZNF407

Diseases (144) :ORPHA:2604 ORPHA:2136 OMIM:231050 ORPHA:363528 ORPHA:306542 ORPHA:391474 ORPHA:2176 ORPHA:821 ORPHA:251056 OMIM:620141 OMIM:615485 ORPHA:568 ORPHA:261330 ORPHA:1425 ORPHA:267 ORPHA:1606 OMIM:208230 ORPHA:2554 ORPHA:2990 OMIM:143095 ORPHA:1545 ORPHA:263487 ORPHA:2021 ORPHA:610 ORPHA:536516 OMIM:158810 ORPHA:48431 ORPHA:85293 ORPHA:246 ORPHA:2311 ORPHA:994 ORPHA:3107 ORPHA:3447 ORPHA:1520 ORPHA:1270 OMIM:610758 ORPHA:1466 OMIM:610756 ORPHA:2462 ORPHA:115 OMIM:121050 OMIM:619777 ORPHA:2908 ORPHA:915 ORPHA:85164 ORPHA:272 ORPHA:1826 OMIM:305620 ORPHA:90652 OMIM:300244 ORPHA:3250 ORPHA:2710 ORPHA:93404 ORPHA:373 ORPHA:2570 OMIM:619951 ORPHA:324442 ORPHA:93406 OMIM:186300 OMIM:186000 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:607015 OMIM:604320 ORPHA:464 ORPHA:60030 ORPHA:3047 ORPHA:166108 OMIM:618109 ORPHA:85279 ORPHA:2466 ORPHA:2065 OMIM:226650 OMIM:609813 ORPHA:3206 OMIM:601559 ORPHA:93405 ORPHA:1662 ORPHA:2774 ORPHA:2273 ORPHA:776 ORPHA:464738 OMIM:614399 OMIM:249000 ORPHA:466768 OMIM:208150 ORPHA:1146 ORPHA:2053 OMIM:619110 ORPHA:575 OMIM:186580 ORPHA:90340 ORPHA:1507 OMIM:309000 ORPHA:1529 ORPHA:896 OMIM:148820 ORPHA:3220 OMIM:114300 OMIM:108145 ORPHA:1154 ORPHA:376 ORPHA:2461 OMIM:280000 OMIM:612394 ORPHA:3455 OMIM:619234 ORPHA:2092 OMIM:208250 ORPHA:2848 OMIM:256040 OMIM:619420 OMIM:300998 ORPHA:468631 OMIM:600920 ORPHA:137834 ORPHA:628 ORPHA:93307 OMIM:602782 ORPHA:356961 OMIM:615553 OMIM:612350 ORPHA:284984 ORPHA:1658 OMIM:301044 OMIM:616920 OMIM:206920 ORPHA:1106 OMIM:619323 ORPHA:1617 ORPHA:3138 ORPHA:2753 ORPHA:1388 OMIM:615582 OMIM:618050 ORPHA:1194 OMIM:601680 OMIM:617072 ORPHA:77258 ORPHA:2635 OMIM:600638 ORPHA:920 OMIM:619557

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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