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 morphology of the proximal phalanx of the hallux (HP:0010052)

Grandparent Node:
Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058)

Parent Node:
Aplasia of the phalanges of the hallux (HP:0010110)

Parent Node:
Aplasia of the proximal phalanges of the toes (HP:0100388)

Parent Node:
Aplasia/Hypoplasia of the proximal phalanx of the hallux (HP:0010085)

..Starting node
..Aplasia of the proximal phalanx of the hallux (HP:0010106)

Term ID:

10106

Name:

Aplasia of the proximal phalanx of the hallux

Synonym:

Absent innermost bone of big toe

Definition:

Comments:

Reference:

HP:0010106

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short proximal phalanx of hallux (HP:0010107)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010106	HP:0010106	Aplasia of the proximal phalanx of the hallux	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.