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 (HP:0001371)

Parent Node:
Camptodactyly of finger (HP:0100490)

Parent Node:
Congenital contracture (HP:0002803)

..Starting node
..Congenital finger flexion contractures (HP:0005879)

Term ID:

5879

Name:

Congenital finger flexion contractures

Synonym:

Congenital finger contractures

Definition:

Multiple bent (flexed) finger joints that cannot be straightened actively or passively.

Comments:

Reference:

HP:0005879

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arthrogryposis multiplex congenita (HP:0002804)

Congenital foot contraction deformities (HP:0005853)

Congenital foot contractures (HP:0005745)

Distal arthrogryposis (HP:0005684)

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:0005879	HP:0005879	Congenital finger flexion contractures	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0005879	HP:0005879	Congenital finger flexion contractures	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85

Genes (9) :ADAT3 CAPN3 COL12A1 FBN2 KCNK9 MORC2 PIEZO2 PRG4 TGFB3

Diseases (10) :ORPHA:363528 ORPHA:267 ORPHA:536516 OMIM:121050 ORPHA:166108 ORPHA:466768 OMIM:108145 ORPHA:1154 OMIM:208250 OMIM:615582

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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