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 joint morphology (HP:0001367)

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

Parent Node:
Enlarged joints (HP:0003037)

..Starting node
..Enlarged interphalangeal joints (HP:0006247)

Term ID:

6247

Name:

Enlarged interphalangeal joints

Synonym:

Enlarged hinge joints

Definition:

Comments:

Reference:

HP:0006247

Genes and Diseases:

Child Nodes:

........

Enlarged proximal interphalangeal joints (HP:0006185)

........

Heberden's node (HP:0012313)

........

Bouchard's node (HP:0012314)

Sister Nodes:

Wide radioulnar joints (HP:0003973)

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:0006247	HP:0006247	Enlarged interphalangeal joints	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0006247	HP:0006247	Enlarged interphalangeal joints	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0006247	HP:0006247	Enlarged interphalangeal joints	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia		284
HP:0006247	HP:0006247	Enlarged interphalangeal joints	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0006247	HP:0006247	Enlarged interphalangeal joints	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0006247	HP:0006247	Enlarged interphalangeal joints	0	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints		32
HP:0006247	HP:0012314	Bouchard's node	1	CL E G H
HP:0006247	HP:0012313	Heberden's node	1	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0006247	HP:0006185	Enlarged proximal interphalangeal joints	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0006247	HP:0006185	Enlarged proximal interphalangeal joints	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0006247	HP:0012313	Heberden's node	1	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints	.	32

Genes (5) :CCN6 COL2A1 HOXD13 KAT6A MATN3

Diseases (6) :OMIM:208230 ORPHA:1159 OMIM:604864 OMIM:186300 OMIM:616268 OMIM:140600

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

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