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 finger phalanx morphology (HP:0005918)

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

..Starting node
..Swelling of proximal interphalangeal joints (HP:0006253)

Term ID:

6253

Name:

Swelling of proximal interphalangeal joints

Synonym:

Swelling of innermost hinge joints

Definition:

Comments:

Reference:

HP:0006253

Genes and Diseases:

Child Nodes:

Sister Nodes:

Camptodactyly of finger (HP:0100490)

Enlarged interphalangeal joints (HP:0006247)

Enlarged metacarpophalangeal joints (HP:0006163)

Interphalangeal joint erosions (HP:0006252)

Limited interphalangeal movement (HP:0006064)

Limited mobility of proximal interphalangeal joint (HP:0006217)

Narrow small joints of the hand (HP:0004267)

Osteoarthritis of the small joints of the hand (HP:0004268)

Prominent interphalangeal joints (HP:0006237)

Reduced proximal interphalangeal joint space (HP:0006019)

Soft tissue swelling of interphalangeal joints (HP:0006162)

Subluxation of the small joints of the hand (HP:0004269)

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:0006253	HP:0006253	Swelling of proximal interphalangeal joints	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0006253	HP:0006253	Swelling of proximal interphalangeal joints	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171

Genes (2) :KRT14 TRPS1

Diseases (2) :ORPHA:69087 OMIM:190350

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