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 4th toe (HP:0010337)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the 4th toe (HP:0010371)

Grandparent Node:
Hypoplasia of the phalanges of the toes (HP:0010746)

Parent Node:
Aplasia/Hypoplasia of the middle phalanx of the 4th toe (HP:0100373)

Parent Node:
Short phalanx of the 4th toe (HP:0100367)

..Starting node
..Short middle phalanx of the 4th toe (HP:0100393)

Term ID:

100393

Name:

Short middle phalanx of the 4th toe

Synonym:

Hypoplastic/small middle phalanx of the 4th toe; Short middle bone of 4th toe; Short middle phalanx of the fourth toe

Definition:

Developmental hypoplasia of the middle phalanx of fourth toe.

Comments:

Reference:

HP:0100393

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of the 4th toe (HP:0100390)

Short proximal phalanx of the 4th toe (HP:0100396)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100393	HP:0100393	Short middle phalanx of the 4th 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.