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:
Joint hypermobility (HP:0001382)

Parent Node:
Hypermobility of interphalangeal joints (HP:0005620)

..Starting node
..Hypermobility of distal interphalangeal joints (HP:0006201)

Term ID:

6201

Name:

Hypermobility of distal interphalangeal joints

Synonym:

Increased mobility of outermost hinge joint

Definition:

Comments:

Reference:

HP:0006201

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006201	HP:0006201	Hypermobility of distal interphalangeal joints	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0006201	HP:0006201	Hypermobility of distal interphalangeal joints	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0006201	HP:0006201	Hypermobility of distal interphalangeal joints	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37

Genes (3) :COL1A2 COL3A1 ECEL1

Diseases (3) :ORPHA:230851 OMIM:130050 OMIM:615065

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