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
..Prominent interphalangeal joints (HP:0006237)

Term ID:

6237

Name:

Prominent interphalangeal joints

Synonym:

Prominent hinge joints

Definition:

Comments:

Reference:

HP:0006237

Genes and Diseases:

Child Nodes:

........

Prominent proximal interphalangeal joints (HP:0006167)

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)

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)

Swelling of proximal interphalangeal joints (HP:0006253)

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:0006237	HP:0006237	Prominent interphalangeal joints	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0006237	HP:0006237	Prominent interphalangeal joints	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0006237	HP:0006237	Prominent interphalangeal joints	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0006237	HP:0006237	Prominent interphalangeal joints	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0006237	HP:0006167	Prominent proximal interphalangeal joints	1	CL E G H

Genes (4) :ARID1B COL11A2 PCGF2 SMARCA2

Diseases (4) :OMIM:135900 OMIM:215150 OMIM:618371 OMIM:601358

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