Human Phenotype Ontology

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

Grandparent Node:
Flexion contracture of digit (HP:0030044)

Grandparent Node:
Joint contracture of the hand (HP:0009473)

Parent Node:
Abnormal 5th finger morphology (HP:0004207)

Parent Node:
Flexion contracture of finger (HP:0012785)

..Starting node
..Joint contracture of the 5th finger (HP:0009183)

Term ID:

9183

Name:

Joint contracture of the 5th finger

Synonym:

5th finger camptodactyly; Fifth finger camptodactyly

Definition:

Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.

Comments:

Reference:

HP:0009183

Genes and Diseases:

Child Nodes:

........

Contracture of the distal interphalangeal joint of the 5th finger (HP:0009184)

........

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

........

Contracture of the metacarpophalangeal joint of the 5th finger (HP:0009186)

Sister Nodes:

Flexion contracture of the 2nd finger (HP:0009537)

Flexion contracture of thumb (HP:0009600)

Interphalangeal joint contracture of finger (HP:0001220)

Joint contracture of the 3rd finger (HP:0009319)

Joint contracture of the 4th finger (HP:0009274)

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:0009183	HP:0009183	Joint contracture of the 5th finger	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.	8
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0009183	HP:0009183	Joint contracture of the 5th finger	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.	10
HP:0009183	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	1	CL E G H
HP:0009183	HP:0009186	Contracture of the metacarpophalangeal joint of the 5th finger	1	CL E G H
HP:0009183	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0009183	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0009183	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0009183	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0009183	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36

Genes (15) :ARPC4 AUTS2 CTCF FBXW11 GJA1 HOXD13 KDM5B KMT2B LIFR PIGL PITX1 PYROXD1 SLC29A3 TMEM218 ZDHHC9

Diseases (15) :OMIM:620141 ORPHA:352490 ORPHA:363611 OMIM:618914 OMIM:164200 OMIM:186000 OMIM:618109 OMIM:619934 OMIM:601559 OMIM:280000 OMIM:186550 OMIM:617258 OMIM:602782 OMIM:619562 OMIM:300799

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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