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 finger morphology (HP:0004188)

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

Parent Node:
Aplasia of the fingers (HP:0009380)

Parent Node:
Aplasia/Hypoplasia of the 4th finger (HP:0009272)

..Starting node
..Aplasia of the 4th finger (HP:0009281)

Term ID:

9281

Name:

Aplasia of the 4th finger

Synonym:

Absent ring finger

Definition:

Absent 4th finger.

Comments:

Reference:

HP:0009281

Genes and Diseases:

Child Nodes:

........

Aplasia of the distal phalanx of the 4th finger (HP:0009291)

........

Absent middle phalanx of 4th finger (HP:0009294)

........

Aplasia of the proximal phalanx of the 4th finger (HP:0009298)

Sister Nodes:

Short 4th finger (HP:0009280)

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:0009281	HP:0009281	Aplasia of the 4th finger	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	100
HP:0009281	HP:0009298	Aplasia of the proximal phalanx of the 4th finger	1	CL E G H
HP:0009281	HP:0009294	Absent middle phalanx of 4th finger	1	CL E G H
HP:0009281	HP:0009291	Aplasia of the distal phalanx of the 4th finger	1	CL E G H

Genes (1) :TBX3

Diseases (1) :OMIM:181450

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