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 toe proximal phalanx (HP:0010184)

Grandparent Node:
Broad phalanx of the toes (HP:0010174)

Parent Node:
Abnormal morphology of the proximal phalanx of the 5th toe (HP:0010394)

Parent Node:
Broad phalanges of the 5th toe (HP:0010384)

Parent Node:
Broad proximal phalanx of toe (HP:0010204)

..Starting node
..Broad proximal phalanx of the 5th toe (HP:0100430)

Term ID:

100430

Name:

Broad proximal phalanx of the 5th toe

Synonym:

Broad innermost bone of the little toe; Broad innermost bone of the pinkie toe; Broad innermost bone of the pinky toe

Definition:

Comments:

Reference:

HP:0100430

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad proximal phalanx of the 2nd toe (HP:0010396)

Broad proximal phalanx of the 3rd toe (HP:0100428)

Broad proximal phalanx of the 4th toe (HP:0100429)

Broad proximal phalanx of the hallux (HP:0010086)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100430	HP:0100430	Broad proximal phalanx of the 5th toe	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.