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:0030044	HP:0030044	Flexion contracture of digit	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0030044	HP:0030044	Flexion contracture of digit	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0030044	HP:0030044	Flexion contracture of digit	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0030044	HP:0030044	Flexion contracture of digit	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0030044	HP:0030044	Flexion contracture of digit	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0030044	HP:0030044	Flexion contracture of digit	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0030044	HP:0030044	Flexion contracture of digit	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0030044	HP:0030044	Flexion contracture of digit	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0030044	HP:0030044	Flexion contracture of digit	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0030044	HP:0030044	Flexion contracture of digit	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0030044	HP:0030044	Flexion contracture of digit	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0030044	HP:0030044	Flexion contracture of digit	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0030044	HP:0030044	Flexion contracture of digit	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0030044	HP:0030044	Flexion contracture of digit	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0030044	Flexion contracture of digit	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0030044	HP:0030044	Flexion contracture of digit	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0030044	Flexion contracture of digit	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0030044	HP:0030044	Flexion contracture of digit	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0030044	HP:0030044	Flexion contracture of digit	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0030044	HP:0030044	Flexion contracture of digit	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0030044	HP:0030044	Flexion contracture of digit	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0030044	HP:0030044	Flexion contracture of digit	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0030044	HP:0030044	Flexion contracture of digit	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0030044	Flexion contracture of digit	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0030044	HP:0030044	Flexion contracture of digit	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0030044	HP:0030044	Flexion contracture of digit	0	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex		4
HP:0030044	HP:0030044	Flexion contracture of digit	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0030044	HP:0030044	Flexion contracture of digit	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0030044	HP:0030044	Flexion contracture of digit	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030044	HP:0030044	Flexion contracture of digit	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0030044	HP:0030044	Flexion contracture of digit	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0030044	HP:0030044	Flexion contracture of digit	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0030044	HP:0030044	Flexion contracture of digit	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0030044	HP:0030044	Flexion contracture of digit	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0030044	HP:0030044	Flexion contracture of digit	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0030044	HP:0030044	Flexion contracture of digit	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0030044	HP:0030044	Flexion contracture of digit	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0030044	HP:0030044	Flexion contracture of digit	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0030044	HP:0030044	Flexion contracture of digit	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0030044	HP:0030044	Flexion contracture of digit	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0030044	HP:0030044	Flexion contracture of digit	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0030044	HP:0030044	Flexion contracture of digit	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0030044	HP:0030044	Flexion contracture of digit	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0030044	HP:0030044	Flexion contracture of digit	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030044	HP:0030044	Flexion contracture of digit	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north		40
HP:0030044	HP:0030044	Flexion contracture of digit	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0030044	HP:0030044	Flexion contracture of digit	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1		442
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1		478
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0030044	HP:0030044	Flexion contracture of digit	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1		702
HP:0030044	HP:0030044	Flexion contracture of digit	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0030044	HP:0030044	Flexion contracture of digit	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0030044	HP:0030044	Flexion contracture of digit	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030044	HP:0030044	Flexion contracture of digit	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0030044	HP:0030044	Flexion contracture of digit	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0030044	HP:0030044	Flexion contracture of digit	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0030044	HP:0030044	Flexion contracture of digit	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0030044	HP:0030044	Flexion contracture of digit	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0030044	HP:0030044	Flexion contracture of digit	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0030044	Flexion contracture of digit	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0030044	HP:0030044	Flexion contracture of digit	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0030044	HP:0030044	Flexion contracture of digit	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0030044	HP:0030044	Flexion contracture of digit	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0030044	HP:0030044	Flexion contracture of digit	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0030044	HP:0030044	Flexion contracture of digit	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0030044	HP:0030044	Flexion contracture of digit	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0030044	HP:0030044	Flexion contracture of digit	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0030044	HP:0030044	Flexion contracture of digit	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0030044	HP:0030044	Flexion contracture of digit	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0030044	HP:0030044	Flexion contracture of digit	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0030044	HP:0030044	Flexion contracture of digit	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0030044	HP:0030044	Flexion contracture of digit	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0030044	HP:0030044	Flexion contracture of digit	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0030044	HP:0030044	Flexion contracture of digit	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0030044	HP:0030044	Flexion contracture of digit	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0030044	HP:0030044	Flexion contracture of digit	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0030044	HP:0030044	Flexion contracture of digit	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0030044	HP:0030044	Flexion contracture of digit	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0030044	HP:0030044	Flexion contracture of digit	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0030044	HP:0030044	Flexion contracture of digit	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0030044	HP:0030044	Flexion contracture of digit	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0030044	HP:0030044	Flexion contracture of digit	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0030044	Flexion contracture of digit	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0030044	HP:0030044	Flexion contracture of digit	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0030044	HP:0030044	Flexion contracture of digit	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0030044	HP:0030044	Flexion contracture of digit	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0030044	HP:0030044	Flexion contracture of digit	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0030044	HP:0030044	Flexion contracture of digit	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0030044	HP:0030044	Flexion contracture of digit	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome		145
HP:0030044	HP:0030044	Flexion contracture of digit	0	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome		145
HP:0030044	HP:0030044	Flexion contracture of digit	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0030044	HP:0030044	Flexion contracture of digit	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0030044	HP:0030044	Flexion contracture of digit	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0030044	HP:0030044	Flexion contracture of digit	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0030044	HP:0030044	Flexion contracture of digit	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0030044	HP:0030044	Flexion contracture of digit	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0030044	HP:0030044	Flexion contracture of digit	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030044	HP:0030044	Flexion contracture of digit	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0030044	HP:0030044	Flexion contracture of digit	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0030044	HP:0030044	Flexion contracture of digit	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0030044	HP:0030044	Flexion contracture of digit	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0030044	HP:0030044	Flexion contracture of digit	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0030044	HP:0030044	Flexion contracture of digit	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0030044	HP:0030044	Flexion contracture of digit	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0030044	HP:0030044	Flexion contracture of digit	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0030044	HP:0030044	Flexion contracture of digit	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0030044	HP:0030044	Flexion contracture of digit	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0030044	HP:0030044	Flexion contracture of digit	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0030044	HP:0030044	Flexion contracture of digit	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0030044	HP:0030044	Flexion contracture of digit	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0030044	HP:0030044	Flexion contracture of digit	0	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD		25
HP:0030044	HP:0030044	Flexion contracture of digit	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5		25
HP:0030044	HP:0030044	Flexion contracture of digit	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0030044	HP:0030044	Flexion contracture of digit	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0030044	HP:0030044	Flexion contracture of digit	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0030044	HP:0030044	Flexion contracture of digit	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0030044	HP:0030044	Flexion contracture of digit	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030044	HP:0030044	Flexion contracture of digit	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0030044	HP:0030044	Flexion contracture of digit	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0030044	HP:0030044	Flexion contracture of digit	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0030044	HP:0030044	Flexion contracture of digit	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0030044	HP:0030044	Flexion contracture of digit	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0030044	HP:0030044	Flexion contracture of digit	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030044	HP:0030044	Flexion contracture of digit	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0030044	HP:0030044	Flexion contracture of digit	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030044	HP:0030044	Flexion contracture of digit	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030044	HP:0030044	Flexion contracture of digit	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0030044	HP:0030044	Flexion contracture of digit	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0030044	HP:0030044	Flexion contracture of digit	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0030044	HP:0030044	Flexion contracture of digit	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0030044	HP:0030044	Flexion contracture of digit	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0030044	HP:0030044	Flexion contracture of digit	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3		42
HP:0030044	HP:0030044	Flexion contracture of digit	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0030044	HP:0030044	Flexion contracture of digit	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0030044	HP:0030044	Flexion contracture of digit	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0030044	HP:0030044	Flexion contracture of digit	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0030044	HP:0030044	Flexion contracture of digit	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0030044	HP:0030044	Flexion contracture of digit	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0030044	HP:0030044	Flexion contracture of digit	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0030044	HP:0030044	Flexion contracture of digit	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0030044	HP:0030044	Flexion contracture of digit	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0030044	HP:0030044	Flexion contracture of digit	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0030044	HP:0030044	Flexion contracture of digit	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0030044	Flexion contracture of digit	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0030044	HP:0030044	Flexion contracture of digit	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030044	HP:0030044	Flexion contracture of digit	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0030044	HP:0030044	Flexion contracture of digit	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0030044	HP:0030044	Flexion contracture of digit	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0030044	HP:0030044	Flexion contracture of digit	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0030044	HP:0030044	Flexion contracture of digit	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0030044	HP:0030044	Flexion contracture of digit	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy		63
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0030044	HP:0030044	Flexion contracture of digit	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0030044	HP:0030044	Flexion contracture of digit	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0030044	HP:0030044	Flexion contracture of digit	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0030044	HP:0030044	Flexion contracture of digit	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0030044	HP:0030044	Flexion contracture of digit	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030044	HP:0030044	Flexion contracture of digit	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0030044	HP:0030044	Flexion contracture of digit	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0030044	HP:0030044	Flexion contracture of digit	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0030044	Flexion contracture of digit	0	MET CL E G H	4233	7029	OMIM:620019			375
HP:0030044	HP:0030044	Flexion contracture of digit	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0030044	HP:0030044	Flexion contracture of digit	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0030044	HP:0030044	Flexion contracture of digit	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030044	HP:0030044	Flexion contracture of digit	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0030044	HP:0030044	Flexion contracture of digit	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0030044	HP:0030044	Flexion contracture of digit	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B		66
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1		66
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0030044	HP:0030044	Flexion contracture of digit	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0030044	Flexion contracture of digit	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0030044	HP:0030044	Flexion contracture of digit	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0030044	HP:0030044	Flexion contracture of digit	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0030044	HP:0030044	Flexion contracture of digit	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1		48
HP:0030044	HP:0030044	Flexion contracture of digit	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0030044	HP:0030044	Flexion contracture of digit	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0030044	HP:0030044	Flexion contracture of digit	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0030044	HP:0030044	Flexion contracture of digit	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0030044	HP:0030044	Flexion contracture of digit	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0030044	HP:0030044	Flexion contracture of digit	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030044	HP:0030044	Flexion contracture of digit	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030044	HP:0030044	Flexion contracture of digit	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0030044	HP:0030044	Flexion contracture of digit	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0030044	HP:0030044	Flexion contracture of digit	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0030044	HP:0030044	Flexion contracture of digit	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45		15
HP:0030044	HP:0030044	Flexion contracture of digit	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0030044	HP:0030044	Flexion contracture of digit	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0030044	Flexion contracture of digit	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0030044	HP:0030044	Flexion contracture of digit	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0030044	HP:0030044	Flexion contracture of digit	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0030044	HP:0030044	Flexion contracture of digit	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0030044	HP:0030044	Flexion contracture of digit	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0030044	HP:0030044	Flexion contracture of digit	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0030044	HP:0030044	Flexion contracture of digit	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0030044	HP:0030044	Flexion contracture of digit	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0030044	HP:0030044	Flexion contracture of digit	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0030044	HP:0030044	Flexion contracture of digit	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0030044	HP:0030044	Flexion contracture of digit	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0030044	HP:0030044	Flexion contracture of digit	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0030044	HP:0030044	Flexion contracture of digit	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0030044	HP:0030044	Flexion contracture of digit	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0030044	HP:0030044	Flexion contracture of digit	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0030044	HP:0030044	Flexion contracture of digit	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0030044	HP:0030044	Flexion contracture of digit	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0030044	HP:0030044	Flexion contracture of digit	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome		77
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0030044	HP:0030044	Flexion contracture of digit	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030044	HP:0030044	Flexion contracture of digit	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly		8
HP:0030044	HP:0030044	Flexion contracture of digit	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0030044	HP:0030044	Flexion contracture of digit	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0030044	Flexion contracture of digit	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0030044	HP:0030044	Flexion contracture of digit	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0030044	HP:0030044	Flexion contracture of digit	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0030044	HP:0030044	Flexion contracture of digit	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0030044	HP:0030044	Flexion contracture of digit	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0030044	HP:0030044	Flexion contracture of digit	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0030044	HP:0030044	Flexion contracture of digit	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0030044	HP:0030044	Flexion contracture of digit	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0030044	HP:0030044	Flexion contracture of digit	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0030044	HP:0030044	Flexion contracture of digit	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0030044	HP:0030044	Flexion contracture of digit	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0030044	HP:0030044	Flexion contracture of digit	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030044	HP:0030044	Flexion contracture of digit	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0030044	HP:0030044	Flexion contracture of digit	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0030044	HP:0030044	Flexion contracture of digit	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0030044	HP:0030044	Flexion contracture of digit	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0030044	HP:0030044	Flexion contracture of digit	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0030044	HP:0030044	Flexion contracture of digit	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0030044	HP:0030044	Flexion contracture of digit	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0030044	HP:0030044	Flexion contracture of digit	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030044	HP:0030044	Flexion contracture of digit	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0030044	HP:0030044	Flexion contracture of digit	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0030044	HP:0030044	Flexion contracture of digit	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0030044	HP:0030044	Flexion contracture of digit	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0030044	Flexion contracture of digit	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0030044	HP:0030044	Flexion contracture of digit	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0030044	HP:0030044	Flexion contracture of digit	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0030044	HP:0030044	Flexion contracture of digit	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0030044	HP:0030044	Flexion contracture of digit	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0030044	HP:0030044	Flexion contracture of digit	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0030044	HP:0030044	Flexion contracture of digit	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0030044	HP:0030044	Flexion contracture of digit	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0030044	HP:0030044	Flexion contracture of digit	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0030044	HP:0030044	Flexion contracture of digit	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0030044	HP:0030044	Flexion contracture of digit	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0030044	HP:0030044	Flexion contracture of digit	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0030044	HP:0030044	Flexion contracture of digit	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0030044	HP:0030044	Flexion contracture of digit	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0030044	HP:0030044	Flexion contracture of digit	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0030044	HP:0030044	Flexion contracture of digit	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0030044	HP:0030044	Flexion contracture of digit	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0030044	HP:0030044	Flexion contracture of digit	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0030044	HP:0030044	Flexion contracture of digit	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0030044	HP:0030044	Flexion contracture of digit	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0030044	HP:0030044	Flexion contracture of digit	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0030044	HP:0030044	Flexion contracture of digit	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0030044	HP:0030044	Flexion contracture of digit	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0030044	HP:0030044	Flexion contracture of digit	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0030044	Flexion contracture of digit	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0030044	HP:0030044	Flexion contracture of digit	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0030044	HP:0030044	Flexion contracture of digit	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0030044	HP:0030044	Flexion contracture of digit	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0030044	HP:0030044	Flexion contracture of digit	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0030044	Flexion contracture of digit	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0030044	HP:0030044	Flexion contracture of digit	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0030044	HP:0030044	Flexion contracture of digit	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0030044	HP:0030044	Flexion contracture of digit	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1		37
HP:0030044	HP:0030044	Flexion contracture of digit	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2		43
HP:0030044	HP:0030044	Flexion contracture of digit	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1		43
HP:0030044	HP:0030044	Flexion contracture of digit	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0030044	HP:0030044	Flexion contracture of digit	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0030044	HP:0030044	Flexion contracture of digit	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0030044	HP:0030044	Flexion contracture of digit	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0030044	HP:0030044	Flexion contracture of digit	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1		54
HP:0030044	HP:0030044	Flexion contracture of digit	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0030044	HP:0030044	Flexion contracture of digit	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0030044	HP:0030044	Flexion contracture of digit	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0030044	HP:0030044	Flexion contracture of digit	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0030044	HP:0030044	Flexion contracture of digit	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0030044	HP:0030044	Flexion contracture of digit	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0030044	HP:0030044	Flexion contracture of digit	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0030044	HP:0030044	Flexion contracture of digit	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0030044	HP:0030044	Flexion contracture of digit	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0030044	HP:0030044	Flexion contracture of digit	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0030044	Flexion contracture of digit	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0030044	HP:0030044	Flexion contracture of digit	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0030044	HP:0030044	Flexion contracture of digit	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type		10
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0030044	Flexion contracture of digit	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0030044	HP:0012385	Camptodactyly	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0030044	HP:0012785	Flexion contracture of finger	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0030044	HP:0012385	Camptodactyly	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0030044	HP:0012785	Flexion contracture of finger	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0030044	HP:0012385	Camptodactyly	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0030044	HP:0012385	Camptodactyly	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0030044	HP:0012385	Camptodactyly	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0030044	HP:0012785	Flexion contracture of finger	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0030044	HP:0012385	Camptodactyly	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0030044	HP:0012385	Camptodactyly	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0030044	HP:0012385	Camptodactyly	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0030044	HP:0012385	Camptodactyly	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0030044	HP:0012785	Flexion contracture of finger	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0030044	HP:0012385	Camptodactyly	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0030044	HP:0012385	Camptodactyly	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0030044	HP:0012785	Flexion contracture of finger	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0030044	HP:0005830	Flexion contracture of toe	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0030044	HP:0012385	Camptodactyly	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0030044	HP:0012785	Flexion contracture of finger	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0030044	HP:0012385	Camptodactyly	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0030044	HP:0012785	Flexion contracture of finger	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0030044	HP:0012785	Flexion contracture of finger	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0030044	HP:0012385	Camptodactyly	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0030044	HP:0012385	Camptodactyly	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0030044	HP:0012385	Camptodactyly	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0012785	Flexion contracture of finger	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0012385	Camptodactyly	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome		166
HP:0030044	HP:0012385	Camptodactyly	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0030044	HP:0012385	Camptodactyly	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0012785	Flexion contracture of finger	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0012385	Camptodactyly	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0030044	HP:0012385	Camptodactyly	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0030044	HP:0012385	Camptodactyly	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0030044	HP:0012785	Flexion contracture of finger	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0030044	HP:0012385	Camptodactyly	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0030044	HP:0012385	Camptodactyly	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0030044	HP:0012785	Flexion contracture of finger	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0030044	HP:0012385	Camptodactyly	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0030044	HP:0005830	Flexion contracture of toe	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0012385	Camptodactyly	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0005830	Flexion contracture of toe	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0030044	HP:0012785	Flexion contracture of finger	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0030044	HP:0012385	Camptodactyly	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0030044	HP:0012385	Camptodactyly	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0030044	HP:0012385	Camptodactyly	1	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.	4
HP:0030044	HP:0012385	Camptodactyly	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0030044	HP:0012785	Flexion contracture of finger	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0030044	HP:0012385	Camptodactyly	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0030044	HP:0012785	Flexion contracture of finger	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0030044	HP:0012385	Camptodactyly	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030044	HP:0012385	Camptodactyly	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0030044	HP:0012785	Flexion contracture of finger	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0030044	HP:0012385	Camptodactyly	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0030044	HP:0012785	Flexion contracture of finger	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0030044	HP:0012785	Flexion contracture of finger	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0030044	HP:0012385	Camptodactyly	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0030044	HP:0012385	Camptodactyly	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0030044	HP:0012385	Camptodactyly	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0030044	HP:0012785	Flexion contracture of finger	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0030044	HP:0012385	Camptodactyly	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0030044	HP:0012385	Camptodactyly	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0030044	HP:0012385	Camptodactyly	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0030044	HP:0012385	Camptodactyly	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0030044	HP:0012385	Camptodactyly	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0030044	HP:0012385	Camptodactyly	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0030044	HP:0012785	Flexion contracture of finger	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0030044	HP:0012385	Camptodactyly	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0030044	HP:0012785	Flexion contracture of finger	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0030044	HP:0012385	Camptodactyly	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0030044	HP:0012385	Camptodactyly	1	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.	87
HP:0030044	HP:0012385	Camptodactyly	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0030044	HP:0012785	Flexion contracture of finger	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0030044	HP:0012385	Camptodactyly	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0030044	HP:0012385	Camptodactyly	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	515
HP:0030044	HP:0012385	Camptodactyly	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0030044	HP:0012385	Camptodactyly	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0030044	HP:0012785	Flexion contracture of finger	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0030044	HP:0005830	Flexion contracture of toe	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0030044	HP:0012385	Camptodactyly	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0030044	HP:0012785	Flexion contracture of finger	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030044	HP:0012385	Camptodactyly	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030044	HP:0012385	Camptodactyly	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0030044	HP:0012785	Flexion contracture of finger	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0030044	HP:0012385	Camptodactyly	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0030044	HP:0012385	Camptodactyly	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0030044	HP:0012785	Flexion contracture of finger	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0030044	HP:0012385	Camptodactyly	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0030044	HP:0012385	Camptodactyly	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0030044	HP:0012385	Camptodactyly	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0030044	HP:0012385	Camptodactyly	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0030044	HP:0012385	Camptodactyly	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0030044	HP:0012385	Camptodactyly	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0030044	HP:0012385	Camptodactyly	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0030044	HP:0012385	Camptodactyly	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0030044	HP:0012385	Camptodactyly	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1		442
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1		442
HP:0030044	HP:0012385	Camptodactyly	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1		478
HP:0030044	HP:0012385	Camptodactyly	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1		478
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0030044	HP:0012385	Camptodactyly	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0030044	HP:0012385	Camptodactyly	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1		702
HP:0030044	HP:0012785	Flexion contracture of finger	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1		702
HP:0030044	HP:0012785	Flexion contracture of finger	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0030044	HP:0012785	Flexion contracture of finger	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0030044	HP:0012385	Camptodactyly	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0030044	HP:0012785	Flexion contracture of finger	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0030044	HP:0012385	Camptodactyly	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030044	HP:0012785	Flexion contracture of finger	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0030044	HP:0012385	Camptodactyly	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0030044	HP:0012785	Flexion contracture of finger	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0030044	HP:0012385	Camptodactyly	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0030044	HP:0012385	Camptodactyly	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent	27
HP:0030044	HP:0012785	Flexion contracture of finger	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0030044	HP:0012385	Camptodactyly	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0030044	HP:0012785	Flexion contracture of finger	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0030044	HP:0012385	Camptodactyly	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0030044	HP:0012785	Flexion contracture of finger	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0030044	HP:0012785	Flexion contracture of finger	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030044	HP:0012385	Camptodactyly	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030044	HP:0012785	Flexion contracture of finger	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0012385	Camptodactyly	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0012785	Flexion contracture of finger	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0030044	HP:0012385	Camptodactyly	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0030044	HP:0012385	Camptodactyly	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0030044	HP:0012385	Camptodactyly	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0030044	HP:0012385	Camptodactyly	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0030044	HP:0012385	Camptodactyly	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0030044	HP:0012385	Camptodactyly	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0030044	HP:0012385	Camptodactyly	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0030044	HP:0005830	Flexion contracture of toe	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0030044	HP:0012385	Camptodactyly	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	4
HP:0030044	HP:0012385	Camptodactyly	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0030044	HP:0012785	Flexion contracture of finger	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0030044	HP:0012385	Camptodactyly	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0030044	HP:0012785	Flexion contracture of finger	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0030044	HP:0012385	Camptodactyly	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0030044	HP:0012385	Camptodactyly	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0030044	HP:0012385	Camptodactyly	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0030044	HP:0012785	Flexion contracture of finger	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0030044	HP:0012785	Flexion contracture of finger	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0030044	HP:0012385	Camptodactyly	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.	37
HP:0030044	HP:0012385	Camptodactyly	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0030044	HP:0012385	Camptodactyly	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0030044	HP:0012785	Flexion contracture of finger	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0030044	HP:0012785	Flexion contracture of finger	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0030044	HP:0012385	Camptodactyly	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0030044	HP:0005830	Flexion contracture of toe	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0030044	HP:0012385	Camptodactyly	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0030044	HP:0012785	Flexion contracture of finger	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0030044	HP:0012385	Camptodactyly	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0030044	HP:0012785	Flexion contracture of finger	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0030044	HP:0005830	Flexion contracture of toe	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0030044	HP:0012385	Camptodactyly	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0030044	HP:0012385	Camptodactyly	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0030044	HP:0012785	Flexion contracture of finger	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0030044	HP:0012385	Camptodactyly	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0030044	HP:0012785	Flexion contracture of finger	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0030044	HP:0012385	Camptodactyly	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0030044	HP:0012785	Flexion contracture of finger	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0030044	HP:0012785	Flexion contracture of finger	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0030044	HP:0012385	Camptodactyly	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0030044	HP:0012385	Camptodactyly	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0030044	HP:0012385	Camptodactyly	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0030044	HP:0012785	Flexion contracture of finger	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0030044	HP:0005830	Flexion contracture of toe	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0030044	HP:0012385	Camptodactyly	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0030044	HP:0012785	Flexion contracture of finger	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0030044	HP:0012385	Camptodactyly	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0030044	HP:0012385	Camptodactyly	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0030044	HP:0012385	Camptodactyly	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent	114
HP:0030044	HP:0012385	Camptodactyly	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0030044	HP:0012385	Camptodactyly	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0030044	HP:0012785	Flexion contracture of finger	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0030044	HP:0012385	Camptodactyly	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0030044	HP:0012385	Camptodactyly	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0030044	HP:0012785	Flexion contracture of finger	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0030044	HP:0012385	Camptodactyly	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0030044	HP:0005830	Flexion contracture of toe	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0030044	HP:0012385	Camptodactyly	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0030044	HP:0012785	Flexion contracture of finger	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0030044	HP:0012785	Flexion contracture of finger	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0012385	Camptodactyly	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0012785	Flexion contracture of finger	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0012385	Camptodactyly	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0012785	Flexion contracture of finger	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0030044	HP:0012785	Flexion contracture of finger	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0030044	HP:0012385	Camptodactyly	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0030044	HP:0012785	Flexion contracture of finger	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0030044	HP:0012385	Camptodactyly	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0030044	HP:0012385	Camptodactyly	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0030044	HP:0012385	Camptodactyly	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	17
HP:0030044	HP:0012385	Camptodactyly	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	172
HP:0030044	HP:0012385	Camptodactyly	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0030044	HP:0005830	Flexion contracture of toe	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome		145
HP:0030044	HP:0012385	Camptodactyly	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome		145
HP:0030044	HP:0012385	Camptodactyly	1	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome		145
HP:0030044	HP:0012785	Flexion contracture of finger	1	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome		145
HP:0030044	HP:0012385	Camptodactyly	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0030044	HP:0005830	Flexion contracture of toe	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0030044	HP:0012385	Camptodactyly	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0030044	HP:0012385	Camptodactyly	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0030044	HP:0012785	Flexion contracture of finger	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0030044	HP:0012385	Camptodactyly	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0030044	HP:0012785	Flexion contracture of finger	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0030044	HP:0012785	Flexion contracture of finger	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0030044	HP:0012385	Camptodactyly	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0030044	HP:0012385	Camptodactyly	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0030044	HP:0012785	Flexion contracture of finger	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0030044	HP:0012385	Camptodactyly	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0030044	HP:0012785	Flexion contracture of finger	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0030044	HP:0005830	Flexion contracture of toe	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0030044	HP:0012385	Camptodactyly	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0030044	HP:0012385	Camptodactyly	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030044	HP:0012785	Flexion contracture of finger	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030044	HP:0012785	Flexion contracture of finger	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0030044	HP:0012385	Camptodactyly	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0030044	HP:0012385	Camptodactyly	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0030044	HP:0012385	Camptodactyly	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0030044	HP:0012385	Camptodactyly	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0030044	HP:0012785	Flexion contracture of finger	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0030044	HP:0012785	Flexion contracture of finger	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0030044	HP:0012385	Camptodactyly	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0030044	HP:0012785	Flexion contracture of finger	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0030044	HP:0012785	Flexion contracture of finger	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0030044	HP:0012385	Camptodactyly	1	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3		68
HP:0030044	HP:0012785	Flexion contracture of finger	1	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3		68
HP:0030044	HP:0012385	Camptodactyly	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0030044	HP:0012385	Camptodactyly	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0030044	HP:0005830	Flexion contracture of toe	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0030044	HP:0012385	Camptodactyly	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0030044	HP:0012385	Camptodactyly	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0030044	HP:0012385	Camptodactyly	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0030044	HP:0012785	Flexion contracture of finger	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0030044	HP:0012385	Camptodactyly	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0030044	HP:0012385	Camptodactyly	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	15
HP:0030044	HP:0012385	Camptodactyly	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	92
HP:0030044	HP:0012385	Camptodactyly	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0030044	HP:0012785	Flexion contracture of finger	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0030044	HP:0012385	Camptodactyly	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0030044	HP:0012385	Camptodactyly	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0030044	HP:0012385	Camptodactyly	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0030044	HP:0012385	Camptodactyly	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0030044	HP:0012385	Camptodactyly	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0030044	HP:0012785	Flexion contracture of finger	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0030044	HP:0012785	Flexion contracture of finger	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0030044	HP:0012385	Camptodactyly	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0030044	HP:0012785	Flexion contracture of finger	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0030044	HP:0012785	Flexion contracture of finger	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0030044	HP:0012385	Camptodactyly	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0030044	HP:0012385	Camptodactyly	1	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD		25
HP:0030044	HP:0012385	Camptodactyly	1	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5		25
HP:0030044	HP:0012785	Flexion contracture of finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5		25
HP:0030044	HP:0012385	Camptodactyly	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0030044	HP:0012785	Flexion contracture of finger	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0030044	HP:0012385	Camptodactyly	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0030044	HP:0012785	Flexion contracture of finger	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0030044	HP:0012385	Camptodactyly	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	8
HP:0030044	HP:0012385	Camptodactyly	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0030044	HP:0012785	Flexion contracture of finger	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0030044	HP:0005830	Flexion contracture of toe	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0030044	HP:0005830	Flexion contracture of toe	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0030044	HP:0012385	Camptodactyly	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0030044	HP:0012385	Camptodactyly	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0030044	HP:0012785	Flexion contracture of finger	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0030044	HP:0012385	Camptodactyly	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0030044	HP:0012785	Flexion contracture of finger	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0030044	HP:0012785	Flexion contracture of finger	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0030044	HP:0012385	Camptodactyly	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0030044	HP:0012785	Flexion contracture of finger	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030044	HP:0012385	Camptodactyly	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030044	HP:0012385	Camptodactyly	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0030044	HP:0012785	Flexion contracture of finger	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0030044	HP:0012785	Flexion contracture of finger	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030044	HP:0012385	Camptodactyly	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030044	HP:0012385	Camptodactyly	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030044	HP:0012785	Flexion contracture of finger	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0030044	HP:0012385	Camptodactyly	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0030044	HP:0012385	Camptodactyly	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030044	HP:0005830	Flexion contracture of toe	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030044	HP:0012385	Camptodactyly	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0030044	HP:0012385	Camptodactyly	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0030044	HP:0012785	Flexion contracture of finger	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0030044	HP:0012385	Camptodactyly	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0030044	HP:0005830	Flexion contracture of toe	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0030044	HP:0012785	Flexion contracture of finger	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0030044	HP:0012385	Camptodactyly	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0030044	HP:0012785	Flexion contracture of finger	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0030044	HP:0012385	Camptodactyly	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0030044	HP:0012385	Camptodactyly	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0030044	HP:0012385	Camptodactyly	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0012785	Flexion contracture of finger	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0012785	Flexion contracture of finger	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0030044	HP:0012385	Camptodactyly	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0030044	HP:0012385	Camptodactyly	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0030044	HP:0012385	Camptodactyly	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0030044	HP:0012385	Camptodactyly	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	14
HP:0030044	HP:0012385	Camptodactyly	1	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.	42
HP:0030044	HP:0012785	Flexion contracture of finger	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0030044	HP:0012785	Flexion contracture of finger	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0030044	HP:0012385	Camptodactyly	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0030044	HP:0012785	Flexion contracture of finger	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0030044	HP:0012385	Camptodactyly	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0030044	HP:0012785	Flexion contracture of finger	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0030044	HP:0012385	Camptodactyly	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0030044	HP:0012785	Flexion contracture of finger	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0030044	HP:0012785	Flexion contracture of finger	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0030044	HP:0012385	Camptodactyly	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0030044	HP:0012785	Flexion contracture of finger	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0030044	HP:0012785	Flexion contracture of finger	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0030044	HP:0012785	Flexion contracture of finger	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0030044	HP:0012385	Camptodactyly	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0030044	HP:0012385	Camptodactyly	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0030044	HP:0012785	Flexion contracture of finger	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0030044	HP:0012785	Flexion contracture of finger	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0012385	Camptodactyly	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0012385	Camptodactyly	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0030044	HP:0012785	Flexion contracture of finger	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0030044	HP:0012385	Camptodactyly	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0030044	HP:0012785	Flexion contracture of finger	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030044	HP:0005830	Flexion contracture of toe	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0030044	HP:0012385	Camptodactyly	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030044	HP:0012385	Camptodactyly	1	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0030044	HP:0012785	Flexion contracture of finger	1	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0030044	HP:0012385	Camptodactyly	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0030044	HP:0012385	Camptodactyly	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0030044	HP:0012785	Flexion contracture of finger	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0030044	HP:0012385	Camptodactyly	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0030044	HP:0012785	Flexion contracture of finger	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0030044	HP:0012385	Camptodactyly	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0030044	HP:0012385	Camptodactyly	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0030044	HP:0012385	Camptodactyly	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0030044	HP:0012385	Camptodactyly	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy		63
HP:0030044	HP:0012785	Flexion contracture of finger	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy		63
HP:0030044	HP:0012385	Camptodactyly	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0030044	HP:0012785	Flexion contracture of finger	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0030044	HP:0012385	Camptodactyly	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0030044	HP:0012785	Flexion contracture of finger	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0030044	HP:0012385	Camptodactyly	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0030044	HP:0012785	Flexion contracture of finger	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0030044	HP:0012385	Camptodactyly	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0030044	HP:0012785	Flexion contracture of finger	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0030044	HP:0012385	Camptodactyly	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0030044	HP:0012385	Camptodactyly	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0030044	HP:0012785	Flexion contracture of finger	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0030044	HP:0012385	Camptodactyly	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0030044	HP:0012385	Camptodactyly	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0030044	HP:0012385	Camptodactyly	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030044	HP:0012785	Flexion contracture of finger	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030044	HP:0012785	Flexion contracture of finger	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0030044	HP:0012385	Camptodactyly	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0030044	HP:0012785	Flexion contracture of finger	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030044	HP:0012385	Camptodactyly	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030044	HP:0012385	Camptodactyly	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0030044	HP:0012785	Flexion contracture of finger	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0030044	HP:0012385	Camptodactyly	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0030044	HP:0012385	Camptodactyly	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0012785	Flexion contracture of finger	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0012385	Camptodactyly	1	MET CL E G H	4233	7029	OMIM:620019			375
HP:0030044	HP:0012785	Flexion contracture of finger	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0030044	HP:0012385	Camptodactyly	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0030044	HP:0012385	Camptodactyly	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0030044	HP:0005830	Flexion contracture of toe	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0030044	HP:0012785	Flexion contracture of finger	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0030044	HP:0012785	Flexion contracture of finger	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030044	HP:0012785	Flexion contracture of finger	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0030044	HP:0012385	Camptodactyly	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0030044	HP:0012385	Camptodactyly	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0030044	HP:0012785	Flexion contracture of finger	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0030044	HP:0012785	Flexion contracture of finger	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0030044	HP:0012385	Camptodactyly	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0030044	HP:0012385	Camptodactyly	1	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	.	66
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1		66
HP:0030044	HP:0012385	Camptodactyly	1	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1		66
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0030044	HP:0005830	Flexion contracture of toe	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0030044	HP:0012385	Camptodactyly	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0030044	HP:0012385	Camptodactyly	1	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.	166
HP:0030044	HP:0012385	Camptodactyly	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0030044	HP:0012385	Camptodactyly	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1		166
HP:0030044	HP:0012385	Camptodactyly	1	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1		166
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0030044	HP:0012385	Camptodactyly	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0030044	HP:0012385	Camptodactyly	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0005830	Flexion contracture of toe	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0030044	HP:0012385	Camptodactyly	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0030044	HP:0012385	Camptodactyly	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0012785	Flexion contracture of finger	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0012785	Flexion contracture of finger	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0030044	HP:0012385	Camptodactyly	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0030044	HP:0012385	Camptodactyly	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0030044	HP:0012385	Camptodactyly	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0030044	HP:0012385	Camptodactyly	1	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1		48
HP:0030044	HP:0012785	Flexion contracture of finger	1	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1		48
HP:0030044	HP:0012785	Flexion contracture of finger	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0030044	HP:0012385	Camptodactyly	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0030044	HP:0012785	Flexion contracture of finger	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0030044	HP:0012385	Camptodactyly	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0030044	HP:0012385	Camptodactyly	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0030044	HP:0012785	Flexion contracture of finger	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0030044	HP:0012385	Camptodactyly	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0030044	HP:0012385	Camptodactyly	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030044	HP:0012785	Flexion contracture of finger	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030044	HP:0012385	Camptodactyly	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030044	HP:0012785	Flexion contracture of finger	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030044	HP:0005830	Flexion contracture of toe	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.	187
HP:0030044	HP:0012785	Flexion contracture of finger	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0030044	HP:0012385	Camptodactyly	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0030044	HP:0012785	Flexion contracture of finger	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0030044	HP:0012385	Camptodactyly	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0030044	HP:0012785	Flexion contracture of finger	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0030044	HP:0012385	Camptodactyly	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0030044	HP:0012385	Camptodactyly	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0030044	HP:0005830	Flexion contracture of toe	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent	15
HP:0030044	HP:0012385	Camptodactyly	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0030044	HP:0012785	Flexion contracture of finger	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0030044	HP:0012385	Camptodactyly	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0030044	HP:0012385	Camptodactyly	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0030044	HP:0012785	Flexion contracture of finger	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0012385	Camptodactyly	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0012385	Camptodactyly	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0030044	HP:0012385	Camptodactyly	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0030044	HP:0012785	Flexion contracture of finger	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0030044	HP:0012385	Camptodactyly	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0030044	HP:0012385	Camptodactyly	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0030044	HP:0012785	Flexion contracture of finger	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0030044	HP:0012385	Camptodactyly	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0030044	HP:0012785	Flexion contracture of finger	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0030044	HP:0012385	Camptodactyly	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0030044	HP:0012385	Camptodactyly	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0030044	HP:0012785	Flexion contracture of finger	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0030044	HP:0012385	Camptodactyly	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0030044	HP:0012385	Camptodactyly	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0030044	HP:0012785	Flexion contracture of finger	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0030044	HP:0012785	Flexion contracture of finger	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0030044	HP:0012785	Flexion contracture of finger	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0030044	HP:0012385	Camptodactyly	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0030044	HP:0012385	Camptodactyly	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0030044	HP:0012785	Flexion contracture of finger	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0030044	HP:0012785	Flexion contracture of finger	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0030044	HP:0012385	Camptodactyly	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0030044	HP:0012785	Flexion contracture of finger	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0030044	HP:0012785	Flexion contracture of finger	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0030044	HP:0012385	Camptodactyly	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0030044	HP:0012385	Camptodactyly	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0030044	HP:0012785	Flexion contracture of finger	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0030044	HP:0012385	Camptodactyly	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0030044	HP:0005830	Flexion contracture of toe	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0030044	HP:0012385	Camptodactyly	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0030044	HP:0012385	Camptodactyly	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0030044	HP:0005830	Flexion contracture of toe	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0030044	HP:0012785	Flexion contracture of finger	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0030044	HP:0012385	Camptodactyly	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0030044	HP:0012385	Camptodactyly	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0030044	HP:0012785	Flexion contracture of finger	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0030044	HP:0012385	Camptodactyly	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0030044	HP:0012785	Flexion contracture of finger	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0030044	HP:0012385	Camptodactyly	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0030044	HP:0012385	Camptodactyly	1	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome		77
HP:0030044	HP:0012785	Flexion contracture of finger	1	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome		77
HP:0030044	HP:0012785	Flexion contracture of finger	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0030044	HP:0012385	Camptodactyly	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0030044	HP:0012385	Camptodactyly	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0030044	HP:0012785	Flexion contracture of finger	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0030044	HP:0012385	Camptodactyly	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0030044	HP:0005830	Flexion contracture of toe	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0030044	HP:0012785	Flexion contracture of finger	1	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly		8
HP:0030044	HP:0012385	Camptodactyly	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0012785	Flexion contracture of finger	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0012785	Flexion contracture of finger	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0030044	HP:0012385	Camptodactyly	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0030044	HP:0012385	Camptodactyly	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0012785	Flexion contracture of finger	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0012385	Camptodactyly	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0030044	HP:0012385	Camptodactyly	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0030044	HP:0012385	Camptodactyly	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0030044	HP:0012785	Flexion contracture of finger	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0030044	HP:0012385	Camptodactyly	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0030044	HP:0012385	Camptodactyly	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0030044	HP:0005830	Flexion contracture of toe	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0030044	HP:0012385	Camptodactyly	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0030044	HP:0012385	Camptodactyly	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0030044	HP:0012785	Flexion contracture of finger	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0030044	HP:0012385	Camptodactyly	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	58
HP:0030044	HP:0012785	Flexion contracture of finger	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0030044	HP:0012385	Camptodactyly	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0030044	HP:0012785	Flexion contracture of finger	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0005830	Flexion contracture of toe	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0012385	Camptodactyly	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0012785	Flexion contracture of finger	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012385	Camptodactyly	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	9
HP:0030044	HP:0012385	Camptodactyly	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0030044	HP:0012785	Flexion contracture of finger	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0030044	HP:0012385	Camptodactyly	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0030044	HP:0005830	Flexion contracture of toe	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0030044	HP:0012785	Flexion contracture of finger	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0030044	HP:0012385	Camptodactyly	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	.	31
HP:0030044	HP:0012785	Flexion contracture of finger	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030044	HP:0012385	Camptodactyly	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030044	HP:0012785	Flexion contracture of finger	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0030044	HP:0012385	Camptodactyly	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0030044	HP:0012785	Flexion contracture of finger	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0030044	HP:0012385	Camptodactyly	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0030044	HP:0012385	Camptodactyly	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0030044	HP:0012385	Camptodactyly	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0030044	HP:0012785	Flexion contracture of finger	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0030044	HP:0012785	Flexion contracture of finger	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0030044	HP:0012385	Camptodactyly	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0030044	HP:0012385	Camptodactyly	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0030044	HP:0012385	Camptodactyly	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0012785	Flexion contracture of finger	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0012385	Camptodactyly	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0030044	HP:0012785	Flexion contracture of finger	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0030044	HP:0012385	Camptodactyly	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0030044	HP:0012785	Flexion contracture of finger	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030044	HP:0012385	Camptodactyly	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0030044	HP:0012385	Camptodactyly	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0030044	HP:0012785	Flexion contracture of finger	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0030044	HP:0012385	Camptodactyly	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0030044	HP:0012385	Camptodactyly	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0030044	HP:0012385	Camptodactyly	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0005830	Flexion contracture of toe	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0012785	Flexion contracture of finger	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0012785	Flexion contracture of finger	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0030044	HP:0012385	Camptodactyly	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0030044	HP:0012385	Camptodactyly	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0030044	HP:0012785	Flexion contracture of finger	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0030044	HP:0012385	Camptodactyly	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0030044	HP:0012785	Flexion contracture of finger	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0030044	HP:0012385	Camptodactyly	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0030044	HP:0012785	Flexion contracture of finger	1	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0030044	HP:0012385	Camptodactyly	1	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0030044	HP:0012785	Flexion contracture of finger	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0030044	HP:0012385	Camptodactyly	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0030044	HP:0012785	Flexion contracture of finger	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0030044	HP:0012385	Camptodactyly	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0030044	HP:0012785	Flexion contracture of finger	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0030044	HP:0012385	Camptodactyly	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0030044	HP:0012785	Flexion contracture of finger	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0030044	HP:0012385	Camptodactyly	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0030044	HP:0012385	Camptodactyly	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0030044	HP:0012785	Flexion contracture of finger	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0030044	HP:0012385	Camptodactyly	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0030044	HP:0012385	Camptodactyly	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0030044	HP:0012785	Flexion contracture of finger	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0030044	HP:0012385	Camptodactyly	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent	68
HP:0030044	HP:0012785	Flexion contracture of finger	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0005830	Flexion contracture of toe	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0012385	Camptodactyly	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0012385	Camptodactyly	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0030044	HP:0012785	Flexion contracture of finger	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0030044	HP:0012785	Flexion contracture of finger	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0030044	HP:0012385	Camptodactyly	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0030044	HP:0012385	Camptodactyly	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0030044	HP:0012785	Flexion contracture of finger	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0030044	HP:0012785	Flexion contracture of finger	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0030044	HP:0012385	Camptodactyly	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0030044	HP:0012385	Camptodactyly	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0030044	HP:0012385	Camptodactyly	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0030044	HP:0012385	Camptodactyly	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0030044	HP:0012785	Flexion contracture of finger	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0030044	HP:0012785	Flexion contracture of 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:0030044	HP:0012385	Camptodactyly	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0012385	Camptodactyly	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0030044	HP:0012785	Flexion contracture of finger	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0030044	HP:0012785	Flexion contracture of finger	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0030044	HP:0012385	Camptodactyly	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0030044	HP:0012785	Flexion contracture of finger	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0030044	HP:0012385	Camptodactyly	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0030044	HP:0012385	Camptodactyly	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0030044	HP:0012385	Camptodactyly	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0030044	HP:0012385	Camptodactyly	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0030044	HP:0012785	Flexion contracture of finger	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0030044	HP:0012385	Camptodactyly	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0030044	HP:0012785	Flexion contracture of finger	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0030044	HP:0012385	Camptodactyly	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0030044	HP:0012385	Camptodactyly	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	5
HP:0030044	HP:0012385	Camptodactyly	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040284 - Very rare	14
HP:0030044	HP:0012385	Camptodactyly	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0030044	HP:0012385	Camptodactyly	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0030044	HP:0012785	Flexion contracture of finger	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0030044	HP:0012385	Camptodactyly	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0030044	HP:0012385	Camptodactyly	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0030044	HP:0012385	Camptodactyly	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0030044	HP:0012785	Flexion contracture of finger	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0030044	HP:0005830	Flexion contracture of toe	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0030044	HP:0012785	Flexion contracture of finger	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0030044	HP:0012385	Camptodactyly	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0030044	HP:0012385	Camptodactyly	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0030044	HP:0012385	Camptodactyly	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0030044	HP:0012785	Flexion contracture of finger	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0030044	HP:0012385	Camptodactyly	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.	31
HP:0030044	HP:0012385	Camptodactyly	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0030044	HP:0012785	Flexion contracture of finger	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0030044	HP:0012385	Camptodactyly	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0030044	HP:0012385	Camptodactyly	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0030044	HP:0012785	Flexion contracture of finger	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0030044	HP:0012785	Flexion contracture of finger	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0005830	Flexion contracture of toe	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0012385	Camptodactyly	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0012785	Flexion contracture of finger	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0030044	HP:0012385	Camptodactyly	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0030044	HP:0012385	Camptodactyly	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0030044	HP:0012785	Flexion contracture of finger	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0030044	HP:0012385	Camptodactyly	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0030044	HP:0012385	Camptodactyly	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0030044	HP:0012385	Camptodactyly	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0030044	HP:0012785	Flexion contracture of finger	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0012385	Camptodactyly	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0012785	Flexion contracture of finger	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0030044	HP:0012785	Flexion contracture of finger	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0030044	HP:0012385	Camptodactyly	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0030044	HP:0012785	Flexion contracture of finger	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0030044	HP:0012385	Camptodactyly	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0030044	HP:0012785	Flexion contracture of finger	1	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1		37
HP:0030044	HP:0012385	Camptodactyly	1	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1		37
HP:0030044	HP:0012385	Camptodactyly	1	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.	43
HP:0030044	HP:0012385	Camptodactyly	1	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1		43
HP:0030044	HP:0012785	Flexion contracture of finger	1	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1		43
HP:0030044	HP:0012385	Camptodactyly	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0030044	HP:0012785	Flexion contracture of finger	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030044	HP:0012385	Camptodactyly	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030044	HP:0012385	Camptodactyly	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0030044	HP:0012385	Camptodactyly	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0030044	HP:0012785	Flexion contracture of finger	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0030044	HP:0012785	Flexion contracture of finger	1	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1		54
HP:0030044	HP:0012385	Camptodactyly	1	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1		54
HP:0030044	HP:0012785	Flexion contracture of finger	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0030044	HP:0012785	Flexion contracture of finger	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0030044	HP:0012385	Camptodactyly	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0030044	HP:0012385	Camptodactyly	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0030044	HP:0012785	Flexion contracture of finger	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0030044	HP:0012785	Flexion contracture of finger	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0030044	HP:0012385	Camptodactyly	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0030044	HP:0012785	Flexion contracture of finger	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0030044	HP:0012385	Camptodactyly	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0030044	HP:0012385	Camptodactyly	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0030044	HP:0012785	Flexion contracture of finger	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0030044	HP:0012385	Camptodactyly	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0030044	HP:0012785	Flexion contracture of finger	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0030044	HP:0012385	Camptodactyly	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0012785	Flexion contracture of finger	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0030044	HP:0012385	Camptodactyly	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0030044	HP:0012385	Camptodactyly	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	10
HP:0030044	HP:0012785	Flexion contracture of finger	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0012385	Camptodactyly	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0030044	HP:0012785	Flexion contracture of finger	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0030044	HP:0012385	Camptodactyly	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0030044	HP:0012385	Camptodactyly	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0030044	HP:0012785	Flexion contracture of finger	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0030044	HP:0012385	Camptodactyly	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0030044	HP:0012385	Camptodactyly	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0030044	HP:0012785	Flexion contracture of finger	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0030044	HP:0012385	Camptodactyly	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0030044	HP:0012385	Camptodactyly	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0030044	HP:0012785	Flexion contracture of finger	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0030044	HP:0012785	Flexion contracture of finger	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type		10
HP:0030044	HP:0012385	Camptodactyly	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0030044	HP:0012385	Camptodactyly	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0030044	HP:0012785	Flexion contracture of finger	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0030044	HP:0012385	Camptodactyly	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0030044	HP:0012385	Camptodactyly	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0012785	Flexion contracture of finger	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0012385	Camptodactyly	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	397
HP:0030044	HP:0010345	Flexion contracture of the 5th toe	2	CL E G H
HP:0030044	HP:0010212	Flexion contracture of the hallux	2	CL E G H
HP:0030044	HP:0100490	Camptodactyly of finger	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0030044	HP:0100490	Camptodactyly of finger	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0030044	HP:0100490	Camptodactyly of finger	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0030044	HP:0100490	Camptodactyly of finger	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0030044	HP:0100490	Camptodactyly of finger	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0030044	HP:0100490	Camptodactyly of finger	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0030044	HP:0100490	Camptodactyly of finger	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0030044	HP:0100490	Camptodactyly of finger	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0030044	HP:0100490	Camptodactyly of finger	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional	219
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0100490	Camptodactyly of finger	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0009274	Joint contracture of the 4th finger	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0100490	Camptodactyly of finger	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0030044	HP:0100490	Camptodactyly of finger	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0030044	HP:0001836	Camptodactyly of toe	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0010333	Flexion contracture of 3rd toe	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0010327	Flexion contracture of the 2nd toe	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0010339	Flexion contracture of the 4th toe	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0030044	HP:0010327	Flexion contracture of the 2nd toe	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0030044	HP:0100490	Camptodactyly of finger	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0030044	HP:0009600	Flexion contracture of thumb	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0030044	HP:0100490	Camptodactyly of finger	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0030044	HP:0100490	Camptodactyly of finger	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0030044	HP:0100490	Camptodactyly of finger	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0030044	HP:0100490	Camptodactyly of finger	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0030044	HP:0100490	Camptodactyly of finger	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0030044	HP:0100490	Camptodactyly of finger	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0030044	HP:0100490	Camptodactyly of finger	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0030044	HP:0100490	Camptodactyly of finger	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0030044	HP:0100490	Camptodactyly of finger	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0030044	HP:0001836	Camptodactyly of toe	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030044	HP:0100490	Camptodactyly of finger	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0030044	HP:0100490	Camptodactyly of finger	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0030044	HP:0100490	Camptodactyly of finger	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	215
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	222
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1		442
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1		478
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0030044	HP:0100490	Camptodactyly of finger	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1		702
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0030044	HP:0100490	Camptodactyly of finger	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0030044	HP:0100490	Camptodactyly of finger	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0030044	HP:0100490	Camptodactyly of finger	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0030044	HP:0100490	Camptodactyly of finger	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent	59
HP:0030044	HP:0009600	Flexion contracture of thumb	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030044	HP:0100490	Camptodactyly of finger	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0100490	Camptodactyly of finger	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0030044	HP:0001836	Camptodactyly of toe	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0030044	HP:0100490	Camptodactyly of finger	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0030044	HP:0100490	Camptodactyly of finger	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0030044	HP:0009600	Flexion contracture of thumb	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0030044	HP:0100490	Camptodactyly of finger	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0030044	HP:0100490	Camptodactyly of finger	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent	2
HP:0030044	HP:0100490	Camptodactyly of finger	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0030044	HP:0100490	Camptodactyly of finger	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0030044	HP:0100490	Camptodactyly of finger	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0030044	HP:0100490	Camptodactyly of finger	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0030044	HP:0100490	Camptodactyly of finger	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0030044	HP:0100490	Camptodactyly of finger	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0030044	HP:0100490	Camptodactyly of finger	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0030044	HP:0100490	Camptodactyly of finger	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0030044	HP:0100490	Camptodactyly of finger	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0030044	HP:0100490	Camptodactyly of finger	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent	655
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0100490	Camptodactyly of finger	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0100490	Camptodactyly of finger	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0030044	HP:0009274	Joint contracture of the 4th finger	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0030044	HP:0100490	Camptodactyly of finger	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0030044	HP:0100490	Camptodactyly of finger	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0030044	HP:0001836	Camptodactyly of toe	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.	145
HP:0030044	HP:0100490	Camptodactyly of finger	2	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent	145
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome		145
HP:0030044	HP:0001836	Camptodactyly of toe	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0030044	HP:0100490	Camptodactyly of finger	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent	184
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0030044	HP:0100490	Camptodactyly of finger	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0030044	HP:0100490	Camptodactyly of finger	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0030044	HP:0100490	Camptodactyly of finger	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0030044	HP:0001836	Camptodactyly of toe	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0030044	HP:0100490	Camptodactyly of finger	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0030044	HP:0100490	Camptodactyly of finger	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0030044	HP:0100490	Camptodactyly of finger	2	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0030044	HP:0100490	Camptodactyly of finger	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3		68
HP:0030044	HP:0100490	Camptodactyly of finger	2	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3	HP:0040282 - Frequent	68
HP:0030044	HP:0001836	Camptodactyly of toe	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0030044	HP:0100490	Camptodactyly of finger	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0030044	HP:0100490	Camptodactyly of finger	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0030044	HP:0100490	Camptodactyly of finger	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0030044	HP:0100490	Camptodactyly of finger	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0030044	HP:0100490	Camptodactyly of finger	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0030044	HP:0100490	Camptodactyly of finger	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5		25
HP:0030044	HP:0100490	Camptodactyly of finger	2	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040282 - Frequent	25
HP:0030044	HP:0100490	Camptodactyly of finger	2	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0030044	HP:0100490	Camptodactyly of finger	2	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0030044	HP:0100490	Camptodactyly of finger	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0030044	HP:0100490	Camptodactyly of finger	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent	86
HP:0030044	HP:0100490	Camptodactyly of finger	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent	86
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0030044	HP:0100490	Camptodactyly of finger	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0030044	HP:0100490	Camptodactyly of finger	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030044	HP:0100490	Camptodactyly of finger	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030044	HP:0100490	Camptodactyly of finger	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0030044	HP:0001836	Camptodactyly of toe	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030044	HP:0010327	Flexion contracture of the 2nd toe	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030044	HP:0001836	Camptodactyly of toe	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222
HP:0030044	HP:0100490	Camptodactyly of finger	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0030044	HP:0100490	Camptodactyly of finger	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0030044	HP:0100490	Camptodactyly of finger	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0009274	Joint contracture of the 4th finger	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0030044	HP:0100490	Camptodactyly of finger	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0030044	HP:0009600	Flexion contracture of thumb	2	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0030044	HP:0100490	Camptodactyly of finger	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040282 - Frequent	134
HP:0030044	HP:0100490	Camptodactyly of finger	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0030044	HP:0100490	Camptodactyly of finger	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0030044	HP:0100490	Camptodactyly of finger	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0030044	HP:0100490	Camptodactyly of finger	2	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0009537	Flexion contracture of the 2nd finger	2	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0030044	HP:0100490	Camptodactyly of finger	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030044	HP:0100490	Camptodactyly of finger	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030044	HP:0100490	Camptodactyly of finger	2	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	106
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0030044	HP:0100490	Camptodactyly of finger	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0030044	HP:0100490	Camptodactyly of finger	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040282 - Frequent	63
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy		63
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0030044	HP:0100490	Camptodactyly of finger	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0030044	HP:0100490	Camptodactyly of finger	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0030044	HP:0100490	Camptodactyly of finger	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030044	HP:0009319	Joint contracture of the 3rd finger	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030044	HP:0100490	Camptodactyly of finger	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030044	HP:0009600	Flexion contracture of thumb	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030044	HP:0100490	Camptodactyly of finger	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0030044	HP:0100490	Camptodactyly of finger	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030044	HP:0100490	Camptodactyly of finger	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0030044	HP:0001836	Camptodactyly of toe	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0030044	HP:0100490	Camptodactyly of finger	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030044	HP:0100490	Camptodactyly of finger	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0030044	HP:0100490	Camptodactyly of finger	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0030044	HP:0100490	Camptodactyly of finger	2	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	66
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1		66
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0030044	HP:0100490	Camptodactyly of finger	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1		166
HP:0030044	HP:0100490	Camptodactyly of finger	2	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	166
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0030044	HP:0100490	Camptodactyly of finger	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0100490	Camptodactyly of finger	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0001836	Camptodactyly of toe	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0100490	Camptodactyly of finger	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0030044	HP:0100490	Camptodactyly of finger	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1		48
HP:0030044	HP:0100490	Camptodactyly of finger	2	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	48
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0030044	HP:0100490	Camptodactyly of finger	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0030044	HP:0100490	Camptodactyly of finger	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030044	HP:0100490	Camptodactyly of finger	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030044	HP:0100490	Camptodactyly of finger	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent	187
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030044	HP:0100490	Camptodactyly of finger	2	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0030044	HP:0100490	Camptodactyly of finger	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0030044	HP:0100490	Camptodactyly of finger	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0030044	HP:0100490	Camptodactyly of finger	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0030044	HP:0100490	Camptodactyly of finger	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0030044	HP:0100490	Camptodactyly of finger	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0030044	HP:0100490	Camptodactyly of finger	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0030044	HP:0100490	Camptodactyly of finger	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0030044	HP:0100490	Camptodactyly of finger	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	2	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040282 - Frequent	59
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0030044	HP:0100490	Camptodactyly of finger	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0030044	HP:0100490	Camptodactyly of finger	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	169
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0030044	HP:0100490	Camptodactyly of finger	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	98
HP:0030044	HP:0001836	Camptodactyly of toe	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0030044	HP:0001836	Camptodactyly of toe	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0030044	HP:0100490	Camptodactyly of finger	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0030044	HP:0100490	Camptodactyly of finger	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0030044	HP:0100490	Camptodactyly of finger	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome		77
HP:0030044	HP:0100490	Camptodactyly of finger	2	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040281 - Very frequent	77
HP:0030044	HP:0100490	Camptodactyly of finger	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent	77
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0030044	HP:0100490	Camptodactyly of finger	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.	8
HP:0030044	HP:0009537	Flexion contracture of the 2nd finger	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0100490	Camptodactyly of finger	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0009319	Joint contracture of the 3rd finger	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0030044	HP:0100490	Camptodactyly of finger	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0100490	Camptodactyly of finger	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0030044	HP:0100490	Camptodactyly of finger	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0030044	HP:0010339	Flexion contracture of the 4th toe	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0030044	HP:0001836	Camptodactyly of toe	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0030044	HP:0100490	Camptodactyly of finger	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0030044	HP:0100490	Camptodactyly of finger	2	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0001836	Camptodactyly of toe	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0100490	Camptodactyly of finger	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0100490	Camptodactyly of finger	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0030044	HP:0100490	Camptodactyly of finger	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030044	HP:0100490	Camptodactyly of finger	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0030044	HP:0100490	Camptodactyly of finger	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0030044	HP:0100490	Camptodactyly of finger	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0030044	HP:0100490	Camptodactyly of finger	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0030044	HP:0100490	Camptodactyly of finger	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0009537	Flexion contracture of the 2nd finger	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0009600	Flexion contracture of thumb	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0030044	HP:0001836	Camptodactyly of toe	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0030044	HP:0100490	Camptodactyly of finger	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0100490	Camptodactyly of finger	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0030044	HP:0100490	Camptodactyly of finger	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0030044	HP:0100490	Camptodactyly of finger	2	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	67
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0030044	HP:0009274	Joint contracture of the 4th finger	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0030044	HP:0100490	Camptodactyly of finger	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0030044	HP:0100490	Camptodactyly of finger	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0030044	HP:0100490	Camptodactyly of finger	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0030044	HP:0100490	Camptodactyly of finger	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0030044	HP:0009319	Joint contracture of the 3rd finger	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0100490	Camptodactyly of finger	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0100490	Camptodactyly of finger	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.	2
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0030044	HP:0100490	Camptodactyly of finger	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0030044	HP:0100490	Camptodactyly of finger	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0030044	HP:0100490	Camptodactyly of finger	2	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent	6
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0009319	Joint contracture of the 3rd finger	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0100490	Camptodactyly of finger	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0030044	HP:0100490	Camptodactyly of finger	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0030044	HP:0100490	Camptodactyly of finger	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0030044	HP:0100490	Camptodactyly of finger	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0030044	HP:0100490	Camptodactyly of finger	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0030044	HP:0100490	Camptodactyly of finger	2	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0030044	HP:0100490	Camptodactyly of finger	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0030044	HP:0100490	Camptodactyly of finger	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0030044	HP:0100490	Camptodactyly of finger	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0030044	HP:0100490	Camptodactyly of finger	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0100490	Camptodactyly of finger	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0100490	Camptodactyly of finger	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0030044	HP:0100490	Camptodactyly of finger	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0030044	HP:0009274	Joint contracture of the 4th finger	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0100490	Camptodactyly of finger	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0030044	HP:0100490	Camptodactyly of finger	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0030044	HP:0100490	Camptodactyly of finger	2	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0030044	HP:0100490	Camptodactyly of finger	2	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	37
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1		37
HP:0030044	HP:0100490	Camptodactyly of finger	2	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	43
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1		43
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030044	HP:0100490	Camptodactyly of finger	2	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030044	HP:0100490	Camptodactyly of finger	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1		54
HP:0030044	HP:0100490	Camptodactyly of finger	2	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	54
HP:0030044	HP:0100490	Camptodactyly of finger	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0030044	HP:0100490	Camptodactyly of finger	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0030044	HP:0100490	Camptodactyly of finger	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0030044	HP:0100490	Camptodactyly of finger	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0030044	HP:0100490	Camptodactyly of finger	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional	64
HP:0030044	HP:0100490	Camptodactyly of finger	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent	35
HP:0030044	HP:0100490	Camptodactyly of finger	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0030044	HP:0100490	Camptodactyly of finger	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0030044	HP:0100490	Camptodactyly of finger	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0030044	HP:0100490	Camptodactyly of finger	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0030044	HP:0100490	Camptodactyly of finger	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0030044	HP:0100490	Camptodactyly of finger	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10
HP:0030044	HP:0009183	Joint contracture of the 5th finger	2	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.	10
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0030044	HP:0100490	Camptodactyly of finger	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0030044	HP:0001220	Interphalangeal joint contracture of finger	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0100490	Camptodactyly of finger	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0009277	Contracture of the metacarpophalangeal joint of the 4th finger	3	CL E G H
HP:0030044	HP:0100354	Contracture of the distal interphalangeal joint of the 4th toe	3	CL E G H
HP:0030044	HP:0009539	Contracture of the metacarpophalangeal joint of the 2nd finger	3	CL E G H
HP:0030044	HP:0010215	Contractures of the metatarsophalangeal joint of the hallux	3	CL E G H
HP:0030044	HP:0009186	Contracture of the metacarpophalangeal joint of the 5th finger	3	CL E G H
HP:0030044	HP:0100353	Contracture of the distal interphalangeal joint of the 3rd toe	3	CL E G H
HP:0030044	HP:0100359	Contracture of the metatarsophalangeal joint of the 5th toe	3	CL E G H
HP:0030044	HP:0010214	Contracture of the interphalangeal joint of the hallux	3	CL E G H
HP:0030044	HP:0100352	Contracture of the distal interphalangeal joint of the 2nd toe	3	CL E G H
HP:0030044	HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	3	CL E G H
HP:0030044	HP:0100358	Contracture of the metatarsophalangeal joint of the 4th toe	3	CL E G H
HP:0030044	HP:0010213	Contracture of the tarsometatarsal joint of the hallux	3	CL E G H
HP:0030044	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	3	CL E G H
HP:0030044	HP:0100351	Contractures of the proximal interphalangeal joint of the 5th toe	3	CL E G H
HP:0030044	HP:0009470	Contracture of the metacarpophalangeal joint of the 3rd finger	3	CL E G H
HP:0030044	HP:0100357	Contracture of the metatarsophalangeal joint of the 3rd toe	3	CL E G H
HP:0030044	HP:0100356	Contracture of the metatarsophalangeal joint of the 2nd toe	3	CL E G H
HP:0030044	HP:0009625	Contractures of the metacarpophalangeal joint of the thumb	3	CL E G H
HP:0030044	HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	3	CL E G H
HP:0030044	HP:0100355	Contractures of the distal interphalangeal joint of the 5th toe	3	CL E G H
HP:0030044	HP:0009624	Contractures of the carpometacarpal joint of the thumb	3	CL E G H
HP:0030044	HP:0100490	Camptodactyly of finger	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0030044	HP:0100490	Camptodactyly of finger	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0030044	HP:0100490	Camptodactyly of finger	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0030044	HP:0100490	Camptodactyly of finger	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0030044	HP:0100490	Camptodactyly of finger	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0030044	HP:0100490	Camptodactyly of finger	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0030044	HP:0100490	Camptodactyly of finger	3	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0030044	HP:0100490	Camptodactyly of finger	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0030044	HP:0005617	Bilateral camptodactyly	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0030044	HP:0100490	Camptodactyly of finger	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional	219
HP:0030044	HP:0100490	Camptodactyly of finger	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0100490	Camptodactyly of finger	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0100490	Camptodactyly of finger	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0030044	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0030044	HP:0100490	Camptodactyly of finger	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0030044	HP:0100490	Camptodactyly of finger	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0030044	HP:0100490	Camptodactyly of finger	3	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0030044	HP:0100490	Camptodactyly of finger	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0030044	HP:0100490	Camptodactyly of finger	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0030044	HP:0100490	Camptodactyly of finger	3	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0030044	HP:0100490	Camptodactyly of finger	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0030044	HP:0100490	Camptodactyly of finger	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0030044	HP:0100490	Camptodactyly of finger	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0030044	HP:0100490	Camptodactyly of finger	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0030044	HP:0100490	Camptodactyly of finger	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0030044	HP:0100490	Camptodactyly of finger	3	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0030044	HP:0100490	Camptodactyly of finger	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	215
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	222
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0030044	HP:0100490	Camptodactyly of finger	3	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0030044	HP:0100490	Camptodactyly of finger	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	3	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0030044	HP:0100490	Camptodactyly of finger	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0030044	HP:0100490	Camptodactyly of finger	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0030044	HP:0100490	Camptodactyly of finger	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent	59
HP:0030044	HP:0100490	Camptodactyly of finger	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0030044	HP:0100490	Camptodactyly of finger	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0030044	HP:0100490	Camptodactyly of finger	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0030044	HP:0100490	Camptodactyly of finger	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0030044	HP:0009626	Contractures of the interphalangeal joint of the thumb	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0030044	HP:0100490	Camptodactyly of finger	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0030044	HP:0100490	Camptodactyly of finger	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0030044	HP:0100490	Camptodactyly of finger	3	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent	2
HP:0030044	HP:0100490	Camptodactyly of finger	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0030044	HP:0100490	Camptodactyly of finger	3	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0030044	HP:0100490	Camptodactyly of finger	3	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0030044	HP:0100490	Camptodactyly of finger	3	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0030044	HP:0100490	Camptodactyly of finger	3	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0030044	HP:0100490	Camptodactyly of finger	3	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0030044	HP:0100490	Camptodactyly of finger	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0030044	HP:0100490	Camptodactyly of finger	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0030044	HP:0100490	Camptodactyly of finger	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0030044	HP:0100490	Camptodactyly of finger	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent	655
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0100490	Camptodactyly of finger	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0005617	Bilateral camptodactyly	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0100490	Camptodactyly of finger	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0100490	Camptodactyly of finger	3	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0030044	HP:0100490	Camptodactyly of finger	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0030044	HP:0100490	Camptodactyly of finger	3	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent	145
HP:0030044	HP:0100490	Camptodactyly of finger	3	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent	184
HP:0030044	HP:0100490	Camptodactyly of finger	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0030044	HP:0100490	Camptodactyly of finger	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0030044	HP:0100490	Camptodactyly of finger	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0030044	HP:0100490	Camptodactyly of finger	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0030044	HP:0100490	Camptodactyly of finger	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0030044	HP:0100490	Camptodactyly of finger	3	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0030044	HP:0100490	Camptodactyly of finger	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0030044	HP:0100490	Camptodactyly of finger	3	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3	HP:0040282 - Frequent	68
HP:0030044	HP:0100490	Camptodactyly of finger	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0030044	HP:0100490	Camptodactyly of finger	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0030044	HP:0100490	Camptodactyly of finger	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0030044	HP:0100490	Camptodactyly of finger	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0030044	HP:0100490	Camptodactyly of finger	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0030044	HP:0100490	Camptodactyly of finger	3	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040282 - Frequent	25
HP:0030044	HP:0100490	Camptodactyly of finger	3	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	3	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0030044	HP:0100490	Camptodactyly of finger	3	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0030044	HP:0100490	Camptodactyly of finger	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0030044	HP:0100490	Camptodactyly of finger	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent	86
HP:0030044	HP:0100490	Camptodactyly of finger	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent	86
HP:0030044	HP:0100490	Camptodactyly of finger	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0030044	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030044	HP:0100490	Camptodactyly of finger	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030044	HP:0100490	Camptodactyly of finger	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0030044	HP:0100490	Camptodactyly of finger	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0030044	HP:0100490	Camptodactyly of finger	3	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0030044	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030044	HP:0100490	Camptodactyly of finger	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0030044	HP:0100490	Camptodactyly of finger	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0030044	HP:0100490	Camptodactyly of finger	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0100490	Camptodactyly of finger	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0100490	Camptodactyly of finger	3	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0030044	HP:0100490	Camptodactyly of finger	3	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040282 - Frequent	134
HP:0030044	HP:0100490	Camptodactyly of finger	3	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	3	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0030044	HP:0100490	Camptodactyly of finger	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0030044	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	3	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0100490	Camptodactyly of finger	3	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0100490	Camptodactyly of finger	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0030044	HP:0100490	Camptodactyly of finger	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030044	HP:0100490	Camptodactyly of finger	3	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	106
HP:0030044	HP:0100490	Camptodactyly of finger	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0030044	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0030044	HP:0100490	Camptodactyly of finger	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040282 - Frequent	63
HP:0030044	HP:0100490	Camptodactyly of finger	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0030044	HP:0100490	Camptodactyly of finger	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0030044	HP:0100490	Camptodactyly of finger	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0030044	HP:0100490	Camptodactyly of finger	3	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0030044	HP:0100490	Camptodactyly of finger	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0030044	HP:0100490	Camptodactyly of finger	3	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0030044	HP:0100490	Camptodactyly of finger	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0030044	HP:0100490	Camptodactyly of finger	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0030044	HP:0100490	Camptodactyly of finger	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0030044	HP:0100490	Camptodactyly of finger	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030044	HP:0100490	Camptodactyly of finger	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0030044	HP:0100490	Camptodactyly of finger	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0030044	HP:0100490	Camptodactyly of finger	3	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	66
HP:0030044	HP:0100490	Camptodactyly of finger	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0030044	HP:0100490	Camptodactyly of finger	3	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	166
HP:0030044	HP:0100490	Camptodactyly of finger	3	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0030044	HP:0100490	Camptodactyly of finger	3	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030044	HP:0100490	Camptodactyly of finger	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0030044	HP:0100490	Camptodactyly of finger	3	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	48
HP:0030044	HP:0100490	Camptodactyly of finger	3	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0030044	HP:0100490	Camptodactyly of finger	3	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0030044	HP:0100490	Camptodactyly of finger	3	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0030044	HP:0100490	Camptodactyly of finger	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent	187
HP:0030044	HP:0100490	Camptodactyly of finger	3	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0030044	HP:0100490	Camptodactyly of finger	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0030044	HP:0005617	Bilateral camptodactyly	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0030044	HP:0100490	Camptodactyly of finger	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0030044	HP:0100490	Camptodactyly of finger	3	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0030044	HP:0100490	Camptodactyly of finger	3	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0030044	HP:0100490	Camptodactyly of finger	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0030044	HP:0100490	Camptodactyly of finger	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0030044	HP:0100490	Camptodactyly of finger	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0030044	HP:0100490	Camptodactyly of finger	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0030044	HP:0100490	Camptodactyly of finger	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0030044	HP:0100490	Camptodactyly of finger	3	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	3	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040282 - Frequent	59
HP:0030044	HP:0100490	Camptodactyly of finger	3	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0030044	HP:0100490	Camptodactyly of finger	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0030044	HP:0100490	Camptodactyly of finger	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	169
HP:0030044	HP:0100490	Camptodactyly of finger	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	98
HP:0030044	HP:0100490	Camptodactyly of finger	3	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0030044	HP:0100490	Camptodactyly of finger	3	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0030044	HP:0100490	Camptodactyly of finger	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0030044	HP:0100490	Camptodactyly of finger	3	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040281 - Very frequent	77
HP:0030044	HP:0100490	Camptodactyly of finger	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent	77
HP:0030044	HP:0100490	Camptodactyly of finger	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0030044	HP:0100490	Camptodactyly of finger	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0100490	Camptodactyly of finger	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0030044	HP:0005617	Bilateral camptodactyly	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0100490	Camptodactyly of finger	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0100490	Camptodactyly of finger	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0030044	HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0030044	HP:0100490	Camptodactyly of finger	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0030044	HP:0100490	Camptodactyly of finger	3	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0030044	HP:0100490	Camptodactyly of finger	3	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0030044	HP:0100490	Camptodactyly of finger	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0030044	HP:0100490	Camptodactyly of finger	3	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030044	HP:0100490	Camptodactyly of finger	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0030044	HP:0100490	Camptodactyly of finger	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0030044	HP:0100490	Camptodactyly of finger	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0030044	HP:0100490	Camptodactyly of finger	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0030044	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0100490	Camptodactyly of finger	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0100490	Camptodactyly of finger	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0030044	HP:0001215	Camptodactyly of 2nd-5th fingers	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0100490	Camptodactyly of finger	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0005617	Bilateral camptodactyly	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0030044	HP:0100490	Camptodactyly of finger	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0030044	HP:0100490	Camptodactyly of finger	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0030044	HP:0100490	Camptodactyly of finger	3	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent	67
HP:0030044	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0030044	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0030044	HP:0100490	Camptodactyly of finger	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0030044	HP:0100490	Camptodactyly of finger	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0030044	HP:0100490	Camptodactyly of finger	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0030044	HP:0100490	Camptodactyly of finger	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0030044	HP:0100490	Camptodactyly of finger	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0030044	HP:0100490	Camptodactyly of finger	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030044	HP:0100490	Camptodactyly of finger	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0030044	HP:0100490	Camptodactyly of finger	3	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.	2
HP:0030044	HP:0100490	Camptodactyly of finger	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0030044	HP:0100490	Camptodactyly of finger	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0030044	HP:0100490	Camptodactyly of finger	3	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent	6
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0100490	Camptodactyly of finger	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0100490	Camptodactyly of finger	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0030044	HP:0001215	Camptodactyly of 2nd-5th fingers	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0030044	HP:0100490	Camptodactyly of finger	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0030044	HP:0001215	Camptodactyly of 2nd-5th fingers	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0030044	HP:0100490	Camptodactyly of finger	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0030044	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0030044	HP:0100490	Camptodactyly of finger	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0030044	HP:0100490	Camptodactyly of finger	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0030044	HP:0100490	Camptodactyly of finger	3	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0030044	HP:0100490	Camptodactyly of finger	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0030044	HP:0100490	Camptodactyly of finger	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0030044	HP:0100490	Camptodactyly of finger	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0030044	HP:0100490	Camptodactyly of finger	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0030044	HP:0005879	Congenital finger flexion contractures	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0100490	Camptodactyly of finger	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0100490	Camptodactyly of finger	3	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0030044	HP:0100490	Camptodactyly of finger	3	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0030044	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0100490	Camptodactyly of finger	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0100490	Camptodactyly of finger	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0030044	HP:0100490	Camptodactyly of finger	3	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0030044	HP:0100490	Camptodactyly of finger	3	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	37
HP:0030044	HP:0100490	Camptodactyly of finger	3	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	43
HP:0030044	HP:0100490	Camptodactyly of finger	3	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030044	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	3	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030044	HP:0100490	Camptodactyly of finger	3	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	3	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	54
HP:0030044	HP:0100490	Camptodactyly of finger	3	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0030044	HP:0100490	Camptodactyly of finger	3	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0030044	HP:0100490	Camptodactyly of finger	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0030044	HP:0100490	Camptodactyly of finger	3	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional	64
HP:0030044	HP:0100490	Camptodactyly of finger	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0030044	HP:0100490	Camptodactyly of finger	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0030044	HP:0100490	Camptodactyly of finger	3	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0030044	HP:0100490	Camptodactyly of finger	3	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0030044	HP:0100490	Camptodactyly of finger	3	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0030044	HP:0100490	Camptodactyly of finger	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0030044	HP:0100490	Camptodactyly of finger	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0030044	HP:0100490	Camptodactyly of finger	3	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10
HP:0030044	HP:0100490	Camptodactyly of finger	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0030044	HP:0005617	Bilateral camptodactyly	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0100490	Camptodactyly of finger	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	4	CL E G H
HP:0030044	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	4	CL E G H
HP:0030044	HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	4	CL E G H
HP:0030044	HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	4	CL E G H
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0030044	HP:0005617	Bilateral camptodactyly	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	4	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0030044	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030044	HP:0005617	Bilateral camptodactyly	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	4	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	4	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	4	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0030044	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	4	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0030044	HP:0005617	Bilateral camptodactyly	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0030044	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030044	HP:0005617	Bilateral camptodactyly	4	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0030044	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030044	HP:0001215	Camptodactyly of 2nd-5th fingers	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030044	HP:0005617	Bilateral camptodactyly	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0030044	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0030044	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030044	HP:0001215	Camptodactyly of 2nd-5th fingers	4	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0030044	HP:0001215	Camptodactyly of 2nd-5th fingers	4	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0030044	HP:0005879	Congenital finger flexion contractures	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0030044	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	4	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0030044	HP:0005617	Bilateral camptodactyly	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0030044	HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	5	CL E G H