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 toe (HP:0001991)

Grandparent Node:
Short digit (HP:0011927)

Parent Node:
Abnormality of toe proximal phalanx (HP:0010184)

Parent Node:
Short toe (HP:0001831)

..Starting node
..Short proximal phalanx of toe (HP:0011928)

Term ID:

11928

Name:

Short proximal phalanx of toe

Synonym:

Short innermost toe bone

Definition:

Developmental hypoplasia (shortening) of proximal phalanx of toe.

Comments:

Reference:

HP:0011928

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short 2nd toe (HP:0001885)

Short 3rd toe (HP:0005643)

Short 4th toe (HP:0008093)

Short 5th toe (HP:0011917)

Short hallux (HP:0010109)

Short middle phalanx of toe (HP:0003795)

Shortening of all phalanges of the toes (HP:0005035)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011928	HP:0011928	Short proximal phalanx of toe	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.