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:
Abnormality of the middle phalanx of the 4th finger (HP:0009283)

Grandparent Node:
Symphalangism of middle phalanx of finger (HP:0009849)

Grandparent Node:
Symphalangism of the 4th finger (HP:0004197)

Parent Node:
Proximal symphalangism of hands (HP:0006152)

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

Parent Node:
Symphalangism of middle phalanx of 4th finger (HP:0009308)

..Starting node
..Proximal/middle symphalangism of 4th finger (HP:0009477)

Term ID:

9477

Name:

Proximal/middle symphalangism of 4th finger

Synonym:

Fused innermost and middle bone of fourth finger

Definition:

Fusion of the proximal and middle phalanges of the 4th finger.

Comments:

Reference:

HP:0009477

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal/middle symphalangism of 4th finger (HP:0009305)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009477	HP:0009477	Proximal/middle symphalangism of 4th finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22

Genes (1) :NOG

Diseases (1) :OMIM:186500

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