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 toe (HP:0001780)

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

Grandparent Node:
Foot joint contracture (HP:0008366)

Grandparent Node:
obsolete Joint contractures involving the joints of the feet (HP:0100492)

Parent Node:
Camptodactyly (HP:0012385)

Parent Node:
Flexion contracture of toe (HP:0005830)

..Starting node
..Camptodactyly of toe (HP:0001836)

Term ID:

1836

Name:

Camptodactyly of toe

Synonym:

Camptodactyly of feet

Definition:

Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.

Comments:

Reference:

HP:0001836

Genes and Diseases:

Child Nodes:

........

Contracture of the proximal interphalangeal joint of the 2nd toe (HP:0100348)

........

Contracture of the proximal interphalangeal joint of the 3rd toe (HP:0100349)

........

Contracture of the proximal interphalangeal joint of the 4th toe (HP:0100350)

........

Contractures of the proximal interphalangeal joint of the 5th toe (HP:0100351)

Sister Nodes:

Flexion contracture of 3rd toe (HP:0010333)

Flexion contracture of the 2nd toe (HP:0010327)

Flexion contracture of the 4th toe (HP:0010339)

Flexion contracture of the 5th toe (HP:0010345)

Flexion contracture of the hallux (HP:0010212)

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:0001836	HP:0001836	Camptodactyly of toe	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001836	HP:0001836	Camptodactyly of toe	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001836	HP:0001836	Camptodactyly of toe	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0001836	HP:0001836	Camptodactyly of toe	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.	145
HP:0001836	HP:0001836	Camptodactyly of toe	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001836	HP:0001836	Camptodactyly of toe	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0001836	HP:0001836	Camptodactyly of toe	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0001836	HP:0001836	Camptodactyly of toe	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001836	HP:0001836	Camptodactyly of toe	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222
HP:0001836	HP:0001836	Camptodactyly of toe	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0001836	HP:0001836	Camptodactyly of toe	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001836	HP:0001836	Camptodactyly of toe	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0001836	HP:0001836	Camptodactyly of toe	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0001836	HP:0001836	Camptodactyly of toe	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0001836	HP:0001836	Camptodactyly of toe	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0001836	HP:0001836	Camptodactyly of toe	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0001836	HP:0100351	Contractures of the proximal interphalangeal joint of the 5th toe	1	CL E G H
HP:0001836	HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001836	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001836	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001836	HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10

Genes (16) :BCOR CHRNG DSP FGFR3 FHL1 FLNA GLI3 IPO8 JUP MMP2 MYL11 PHF6 PIEZO2 PPP2R5D PRG4 SCARF2

Diseases (15) :OMIM:300166 OMIM:265000 ORPHA:158687 OMIM:610474 OMIM:300280 OMIM:300244 OMIM:175700 OMIM:619472 OMIM:259600 OMIM:619110 ORPHA:127 OMIM:114300 ORPHA:457279 ORPHA:2848 OMIM:600920

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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