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 4th metacarpal morphology (HP:0010012)

Grandparent Node:
Metacarpal synostosis (HP:0009701)

Parent Node:
Metacarpophalangeal synostosis (HP:0005880)

Parent Node:
Symphalangism affecting the proximal phalanx of the 4th finger (HP:0009314)

Parent Node:
Synostosis involving the 4th metacarpal (HP:0009707)

..Starting node
..Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal (HP:0009478)

Term ID:

9478

Name:

Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal

Synonym:

Fused innermost bone of ring finger with 4th long bone of hand

Definition:

Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.

Comments:

Reference:

HP:0009478

Genes and Diseases:

Child Nodes:

Sister Nodes:

4-5 metacarpal synostosis (HP:0005867)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009478	HP:0009478	Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal	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.