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 3rd finger phalanx morphology (HP:0009316)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

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

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

..Starting node
..Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger (HP:0009457)

Term ID:

9457

Name:

Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger

Synonym:

Absent/small innermost bone of middle finger; Absent/underdeveloped innermost bone of middle finger

Definition:

Comments:

Reference:

HP:0009457

Genes and Diseases:

Child Nodes:

........

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

........

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

Sister Nodes:

Aplasia/Hypoplasia of the distal phalanx of the 3rd finger (HP:0009421)

Aplasia/Hypoplasia of the middle phalanx of the 3rd finger (HP:0009437)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009457	HP:0009457	Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger	0	CL E G H
HP:0009457	HP:0009459	Short proximal phalanx of the 3rd finger	1	CL E G H
HP:0009457	HP:0009458	Aplasia of the proximal phalanx of the 3rd finger	1	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.