Human Phenotype Ontology 
Grandparent Node:
expandAplasia involving bones of the lower limbs (HP:0009817)help
Grandparent Node:
expandAplasia/Hypoplasia of the phalanges of the toes (HP:0010173)help
Parent Node:
expandAplasia of the phalanges of the toes (HP:0010745)help
..Starting node
..expandAplasia of the proximal phalanges of the toes (HP:0100388)help
Term ID: 100388
Name: Aplasia of the proximal phalanges of the toes
Synonym: Absent innermost toe bones
Definition:
Comments:
Reference: HP:0100388
Genes and Diseases:
 
       Child Nodes:
........expandAplasia of the proximal phalanx of the hallux (HP:0010106) help
........expandAplasia of the middle phalanx of the 2nd toe (HP:0010434) help
........expandAbsent proximal phalanx of the 3rd toe (HP:0100384) help
........expandAplasia of the proximal phalanx of the 4th toe (HP:0100385) help
........expandAplasia of the proximal phalanx of the 5th toe (HP:0100386) help

 Sister Nodes: 
..expandAphalangy of hands and feet (HP:0200113) help
..expandAplasia of the distal phalanges of the toes (HP:0010645) help
..expandAplasia of the middle phalanges of the toes (HP:0100387) help
..expandAplasia of the phalanges of the 2nd toe (HP:0010430) help
..expandAplasia of the phalanges of the 3rd toe (HP:0100362) help
..expandAplasia of the phalanges of the 4th toe (HP:0100363) help
..expandAplasia of the phalanges of the 5th toe (HP:0100364) help
..expandAplasia of the phalanges of the hallux (HP:0010110) 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:0100388HP:0100388Aplasia of the proximal phalanges of the toes0 CL E G H
HP:0100388HP:0100384Absent proximal phalanx of the 3rd toe1 CL E G H
HP:0100388HP:0010434Aplasia of the middle phalanx of the 2nd toe1 CL E G H
HP:0100388HP:0010106Aplasia of the proximal phalanx of the hallux1 CL E G H
HP:0100388HP:0100386Aplasia of the proximal phalanx of the 5th toe1 CL E G H
HP:0100388HP:0100385Aplasia of the proximal phalanx of the 4th toe1 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.