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 phalanges of the hand (HP:0009767)

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

..Starting node
..Short pointed phalanges (HP:0006045)

Term ID:

6045

Name:

Short pointed phalanges

Synonym:

Short pointed digital bones

Definition:

Comments:

Reference:

HP:0006045

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of finger (HP:0009882)

Short middle phalanx of finger (HP:0005819)

Short proximal phalanx of finger (HP:0010241)

Shortening of all phalanges of fingers (HP:0011910)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006045	HP:0006045	Short pointed phalanges	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.