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
..obsolete Fusion of midphalangeal joints (HP:0006187)

Term ID:

6187

Name:

obsolete Fusion of midphalangeal joints

Synonym:

Definition:

Comments:

Reference:

HP:0006187

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal symphalangism of hands (HP:0001204)

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

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
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006187	HP:0006187	obsolete Fusion of midphalangeal joints	0	CL E G H

Genes (0) :

Diseases (0) :

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