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 distal phalanx of the 5th finger (HP:0004225)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)

Parent Node:
Aplasia of the 5th finger (HP:0009238)

Parent Node:
Aplasia of the distal phalanges of the hand (HP:0009881)

Parent Node:
Aplasia/Hypoplasia of the distal phalanx of the 5th finger (HP:0009239)

..Starting node
..Aplasia of the distal phalanx of the 5th finger (HP:0009246)

Term ID:

9246

Name:

Aplasia of the distal phalanx of the 5th finger

Synonym:

Absent outermost little finger bone; Absent outermost pinkie finger bone; Absent outermost pinky finger bone

Definition:

Absence of the distal phalanx of the little (5th) finger.

Comments:

Reference:

HP:0009246

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of the 5th finger (HP:0004227)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009246	HP:0009246	Aplasia of the distal phalanx of the 5th 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.