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 proximal phalanx of the 3rd finger (HP:0009358)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447)

Parent Node:
Aplasia of the 3rd finger (HP:0009460)

Parent Node:
Aplasia of the proximal phalanges of the hand (HP:0010242)

Parent Node:
Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger (HP:0009457)

..Starting node
..Aplasia of the proximal phalanx of the 3rd finger (HP:0009458)

Term ID:

9458

Name:

Aplasia of the proximal phalanx of the 3rd finger

Synonym:

Absent innermost bone of middle finger

Definition:

Absence of the proximal phalanx of the 3rd finger.

Comments:

Reference:

HP:0009458

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short proximal phalanx of the 3rd finger (HP:0009459)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009458	HP:0009458	Aplasia of the proximal phalanx of the 3rd finger	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.