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:
Symphalangism affecting the phalanges of the hand (HP:0009773)

..Starting node
..Progressive fusion 2nd-5th pip joints (HP:0006147)

Term ID:

6147

Name:

Progressive fusion 2nd-5th pip joints

Synonym:

Definition:

Comments:

Reference:

HP:0006147

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal symphalangism of hands (HP:0001204)

obsolete Fusion of midphalangeal joints (HP:0006187)

Proximal symphalangism of hands (HP:0006152)

Symphalangism affecting the proximal phalanges of the hand (HP:0009857)

Symphalangism of middle phalanx of finger (HP:0009849)

Symphalangism of the 2nd finger (HP:0009545)

Symphalangism of the 3rd finger (HP:0009445)

Symphalangism of the 4th finger (HP:0004197)

Symphalangism of the 5th finger (HP:0004218)

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:0006147	HP:0006147	Progressive fusion 2nd-5th pip joints	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome	.	22

Genes (1) :NOG

Diseases (1) :OMIM:186570

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