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:0006256	HP:0006256	Abnormality of hand joint mobility	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0006256	HP:0006256	Abnormality of hand joint mobility	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0006256	HP:0006094	Finger joint hypermobility	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0006256	HP:0006094	Finger joint hypermobility	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0006256	HP:0006094	Finger joint hypermobility	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0006256	HP:0006094	Finger joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0006256	HP:0006094	Finger joint hypermobility	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0006256	HP:0006094	Finger joint hypermobility	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0006256	HP:0006094	Finger joint hypermobility	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0006256	HP:0006094	Finger joint hypermobility	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0006256	HP:0006135	Decreased finger mobility	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional	197
HP:0006256	HP:0006094	Finger joint hypermobility	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006256	HP:0006135	Decreased finger mobility	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0006256	HP:0006094	Finger joint hypermobility	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0006256	HP:0006094	Finger joint hypermobility	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0006256	HP:0006135	Decreased finger mobility	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0006256	HP:0006094	Finger joint hypermobility	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0006256	HP:0006094	Finger joint hypermobility	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0006256	HP:0006094	Finger joint hypermobility	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0006256	HP:0006094	Finger joint hypermobility	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0006256	HP:0006135	Decreased finger mobility	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0006256	HP:0006094	Finger joint hypermobility	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0006256	HP:0006094	Finger joint hypermobility	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0006256	HP:0006094	Finger joint hypermobility	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006256	HP:0006094	Finger joint hypermobility	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	HP:0040283 - Occasional	37
HP:0006256	HP:0006094	Finger joint hypermobility	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0006256	HP:0006094	Finger joint hypermobility	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0006256	HP:0006094	Finger joint hypermobility	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0006256	HP:0006094	Finger joint hypermobility	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006256	HP:0006094	Finger joint hypermobility	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0006256	HP:0006094	Finger joint hypermobility	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0006256	HP:0006094	Finger joint hypermobility	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0006256	HP:0006094	Finger joint hypermobility	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0006256	HP:0006094	Finger joint hypermobility	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0006256	HP:0006094	Finger joint hypermobility	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0006256	HP:0006094	Finger joint hypermobility	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0006256	HP:0006094	Finger joint hypermobility	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0006256	HP:0006094	Finger joint hypermobility	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0006256	HP:0006094	Finger joint hypermobility	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0006256	HP:0006094	Finger joint hypermobility	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0006256	HP:0006094	Finger joint hypermobility	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0006256	HP:0006169	Decreased mobility 3rd-5th fingers	2	CL E G H
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0006256	HP:0006149	Increased laxity of fingers	2	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0006256	HP:0006149	Increased laxity of fingers	2	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0006256	HP:0006149	Increased laxity of fingers	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0006256	HP:0006149	Increased laxity of fingers	2	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0006256	HP:0006149	Increased laxity of fingers	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0006256	HP:0006149	Increased laxity of fingers	2	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0006256	HP:0006149	Increased laxity of fingers	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0006256	HP:0006149	Increased laxity of fingers	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006256	HP:0006203	Decreased movement range in interphalangeal joints	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0006256	HP:0006203	Decreased movement range in interphalangeal joints	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0006256	HP:0006203	Decreased movement range in interphalangeal joints	2	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0006256	HP:0001187	Hyperextensibility of the finger joints	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0006256	HP:0005190	Proximal finger joint hyperextensibility	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165