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:
Decreased finger mobility (HP:0006135)

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

..Starting node
..Decreased movement range in interphalangeal joints (HP:0006203)

Term ID:

6203

Name:

Decreased movement range in interphalangeal joints

Synonym:

Decreased range of movement range in hinge joints

Definition:

Comments:

Reference:

HP:0006203

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankylosis (HP:0031013)

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 interphalangeal movement (HP:0006064)

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:0006203	HP:0006203	Decreased movement range in interphalangeal joints	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0006203	HP:0006203	Decreased movement range in interphalangeal joints	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0006203	HP:0006203	Decreased movement range in interphalangeal joints	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100

Genes (3) :GNPTAB HNRNPDL KRT1

Diseases (3) :ORPHA:576 OMIM:609115 ORPHA:530838

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