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 5th finger morphology (HP:0004207)

Grandparent Node:
Aplasia/Hypoplasia of fingers (HP:0006265)

Parent Node:
Aplasia/Hypoplasia of the 5th finger (HP:0006262)

..Starting node
..Partial-complete absence of 5th phalanges (HP:0006209)

Term ID:

6209

Name:

Partial-complete absence of 5th phalanges

Synonym:

Partial-complete absence of 5th digital bone

Definition:

Comments:

Reference:

HP:0006209

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the 5th finger (HP:0009238)

Short 5th finger (HP:0009237)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006209	HP:0006209	Partial-complete absence of 5th phalanges	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.