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 joint mobility (HP:0011729)

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

Parent Node:
Limitation of joint mobility (HP:0001376)

..Starting node
..Limited interphalangeal movement (HP:0006064)

Term ID:

6064

Name:

Limited interphalangeal movement

Synonym:

Limited movement of hinge joints

Definition:

Comments:

Reference:

HP:0006064

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankylosis (HP:0031013)

Decreased movement range in interphalangeal joints (HP:0006203)

Joint stiffness (HP:0001387)

Limitation of knee mobility (HP:0010501)

Limitation of movement at ankles (HP:0010505)

Limited elbow movement (HP:0002996)

Limited hip movement (HP:0008800)

Limited shoulder movement (HP:0006467)

Limited wrist movement (HP:0006248)

Restricted chest movement (HP:0006596)

Restricted large joint movement (HP:0005193)

Scapulohumeral synostosis (HP:0006595)

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:0006064	HP:0006064	Limited interphalangeal movement	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0006064	HP:0006064	Limited interphalangeal movement	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0006064	HP:0006064	Limited interphalangeal movement	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86

Genes (3) :FGF9 GDAP1 SALL4

Diseases (3) :OMIM:612961 ORPHA:99948 OMIM:147750

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