Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of toe (HP:0001991)help
Grandparent Node:
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Short digit (HP:0011927)help
Parent Node:
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Short toe (HP:0001831)help
..Starting node
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Short 5th toe (HP:0011917)help
Term ID: 11917
Name: Short 5th toe
Synonym: Short fifth toe; Short little toe; Short pinkie toe; Short pinky toe
Definition: Underdevelopment (hypoplasia) of the fifth toe.
Comments:
Reference: HP:0011917
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandShort 2nd toe (HP:0001885) help
..expandShort 3rd toe (HP:0005643) help
..expandShort 4th toe (HP:0008093) help
..expandShort hallux (HP:0010109) help
..expandShort middle phalanx of toe (HP:0003795) help
..expandShort proximal phalanx of toe (HP:0011928) help
..expandShortening of all phalanges of the toes (HP:0005035) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011917HP:0011917Short 5th toe0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0011917HP:0011917Short 5th toe0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0011917HP:0011917Short 5th toe0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2250
HP:0011917HP:0011917Short 5th toe0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0011917HP:0011917Short 5th toe0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100


Genes (5) :COX4I1 DYRK1A EP300 RBPJ TBX3

Diseases (5) :OMIM:619060 ORPHA:268261 OMIM:613684 OMIM:614814 OMIM:181450
 

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