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:
Aplasia/Hypoplasia of the proximal phalanges of the hand (HP:0009851)

Grandparent Node:
Short finger (HP:0009381)

Grandparent Node:
Short phalanx of finger (HP:0009803)

Parent Node:
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580)

Parent Node:
Short 2nd finger (HP:0009536)

Parent Node:
Short proximal phalanx of finger (HP:0010241)

..Starting node
..Short proximal phalanx of the 2nd finger (HP:0009597)

Term ID:

9597

Name:

Short proximal phalanx of the 2nd finger

Synonym:

Hypoplastic/small proximal phalanx of the 2nd finger; Short proximal index finger phalanx; Short proximal phalanx of the second finger

Definition:

Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.

Comments:

Reference:

HP:0009597

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Short proximal phalanx of the 4th finger (HP:0009301)

Short proximal phalanx of the 5th finger (HP:0009226)

Shortening of all proximal phalanges of the fingers (HP:0006144)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009597	HP:0009597	Short proximal phalanx of the 2nd finger	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional

Genes (1) :KIF15

Diseases (1) :ORPHA:261323

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.