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 finger (HP:0012785)

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

..Starting node
..Contracture of the distal interphalangeal joint of the fingers (HP:0009697)

Term ID:

9697

Name:

Contracture of the distal interphalangeal joint of the fingers

Synonym:

Definition:

Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.

Comments:

Reference:

HP:0009697

Genes and Diseases:

Child Nodes:

........

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

........

Contracture of the distal interphalangeal joint of the 4th finger (HP:0009275)

........

Contracture of the distal interphalangeal joint of the 3rd finger (HP:0009469)

........

Contracture of the distal interphalangeal joint of the 2nd finger (HP:0009538)

Sister Nodes:

Camptodactyly of finger (HP:0100490)

Contractures of the interphalangeal joint of the thumb (HP:0009626)

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:0009697	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009697	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0009697	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009697	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009697	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0009697	HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	1	CL E G H
HP:0009697	HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	1	CL E G H
HP:0009697	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	1	CL E G H
HP:0009697	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9

Genes (5) :IDUA LMX1B SIN3A SOX9 TOR1AIP1

Diseases (5) :OMIM:607015 ORPHA:2614 OMIM:613406 OMIM:114290 OMIM:617072

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