Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of finger (HP:0001167)

Grandparent Node:
Abnormality of hand joint mobility (HP:0006256)

Grandparent Node:
Joint hypermobility (HP:0001382)

Parent Node:
Finger joint hypermobility (HP:0006094)

..Starting node
..Hyperextensibility of the finger joints (HP:0001187)

Term ID:

1187

Name:

Hyperextensibility of the finger joints

Synonym:

Finger joint hyperextensibility; Hyperextensible digits; Hyperextensible finger; Hyperextensible fingers

Definition:

The ability of the finger joints to move beyond their normal range of motion.

Comments:

Reference:

HP:0001187

Genes and Diseases:

Child Nodes:

........

Proximal finger joint hyperextensibility (HP:0005190)

Sister Nodes:

Increased laxity of fingers (HP:0006149)

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:0001187	HP:0001187	Hyperextensibility of the finger joints	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	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:0001187	HP:0001187	Hyperextensibility of the finger joints	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0001187	HP:0001187	Hyperextensibility of the finger joints	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0001187	HP:0005190	Proximal finger joint hyperextensibility	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165

Genes (25) :ASAH1 BRAF COL1A2 COL5A1 FBN1 FGD1 GNB2 GORAB HDAC4 HRAS IFITM5 KCNH1 LMX1B MED12 NFASC OTUD6B PIGG PKDCC PLAA PRR12 PTDSS1 RPS6KA3 SMS SP7 TMCO1

Diseases (25) :OMIM:228000 OMIM:115150 OMIM:617821 OMIM:130000 OMIM:616914 OMIM:305400 OMIM:619503 OMIM:231070 OMIM:619797 OMIM:218040 OMIM:610967 OMIM:135500 ORPHA:2614 OMIM:309520 OMIM:618356 ORPHA:505237 ORPHA:488635 OMIM:618821 ORPHA:521426 OMIM:619539 OMIM:151050 OMIM:303600 OMIM:309583 OMIM:613849 OMIM:213980

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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