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:
Abnormal phalangeal joint morphology of the hand (HP:0006261)

Grandparent Node:
Camptodactyly (HP:0012385)

Grandparent Node:
Interphalangeal joint contracture of finger (HP:0001220)

Parent Node:
Camptodactyly of finger (HP:0100490)

..Starting node
..Camptodactyly of 2nd-5th fingers (HP:0001215)

Term ID:

1215

Name:

Camptodactyly of 2nd-5th fingers

Synonym:

Definition:

The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.

Comments:

Reference:

HP:0001215

Genes and Diseases:

Child Nodes:

........

Contracture of proximal interphalangeal joints of 2nd-5th fingers (HP:0030675)

Sister Nodes:

Bilateral camptodactyly (HP:0005617)

Congenital finger flexion contractures (HP:0005879)

Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)

Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)

Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)

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

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:0001215	HP:0001215	Camptodactyly of 2nd-5th fingers	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0001215	HP:0001215	Camptodactyly of 2nd-5th fingers	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0001215	HP:0001215	Camptodactyly of 2nd-5th fingers	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0001215	HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	1	CL E G H

Genes (2) :SCARF2 SMOC1

Diseases (3) :OMIM:600920 OMIM:206920 ORPHA:1106

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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