Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the phalanges of the toes (HP:0010161)help
Grandparent Node:
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Aplasia/Hypoplasia involving bones of the feet (HP:0006494)help
Parent Node:
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Abnormal morphology of phalanx of the 2nd toe (HP:0010324)help
Parent Node:
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Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)help
..Starting node
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Aplasia/Hypoplasia of the phalanges of the 2nd toe (HP:0010347)help
Term ID: 10347
Name: Aplasia/Hypoplasia of the phalanges of the 2nd toe
Synonym: Absent/small bones of 2nd toe; Absent/underdeveloped bones of 2nd toe
Definition:
Comments:
Reference: HP:0010347
Genes and Diseases:
 
       Child Nodes:
........expandAplasia/hypoplasia of the proximal phalanx of the 2nd toe (HP:0010395) help
................... HP:0010436 Aplasia of the proximal phalanx of the 2nd toe
................... HP:0010437 Short proximal phalanx of the 2nd toe
........expandAplasia/Hypoplasia of the middle phalanx of the 2nd toe (HP:0010404) help
................... HP:0010434 Aplasia of the middle phalanx of the 2nd toe
................... HP:0010435 Short middle phalanx of the 2nd toe
........expandAplasia/Hypoplasia of the distal phalanx of the 2nd toe (HP:0010413) help
................... HP:0010432 Absent distal phalanx of the 2nd toe
................... HP:0010433 Short distal phalanx of the 2nd toe
........expandAplasia of the phalanges of the 2nd toe (HP:0010430) help
................... HP:0010432 Absent distal phalanx of the 2nd toe
................... HP:0010434 Aplasia of the middle phalanx of the 2nd toe
................... HP:0010436 Aplasia of the proximal phalanx of the 2nd toe
........expandShort phalanx of the 2nd toe (HP:0010431) help
................... HP:0010433 Short distal phalanx of the 2nd toe
................... HP:0010435 Short middle phalanx of the 2nd toe
................... HP:0010437 Short proximal phalanx of the 2nd toe

 Sister Nodes: 
..expandAplasia of the phalanges of the toes (HP:0010745) help
..expandAplasia/hypoplasia of proximal toe phalanx (HP:0010203) help
..expandAplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185) help
..expandAplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194) help
..expandAplasia/Hypoplasia of the phalanges of the 3rd toe (HP:0010359) help
..expandAplasia/Hypoplasia of the phalanges of the 4th toe (HP:0010371) help
..expandAplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383) help
..expandAplasia/Hypoplasia of the phalanges of the hallux (HP:0010058) help
..expandHypoplasia of the phalanges of the toes (HP:0010746) 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:0010347HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0010347HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010347HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe0MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010347HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0010347HP:0010431Short phalanx of the 2nd toe1 CL E G H
HP:0010347HP:0010404Aplasia/Hypoplasia of the middle phalanx of the 2nd toe1 CL E G H
HP:0010347HP:0010395Aplasia/hypoplasia of the proximal phalanx of the 2nd toe1 CL E G H
HP:0010347HP:0010413Aplasia/Hypoplasia of the distal phalanx of the 2nd toe1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010347HP:0010430Aplasia of the phalanges of the 2nd toe1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010347HP:0010413Aplasia/Hypoplasia of the distal phalanx of the 2nd toe1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010347HP:0010433Short distal phalanx of the 2nd toe2 CL E G H
HP:0010347HP:0010437Short proximal phalanx of the 2nd toe2 CL E G H
HP:0010347HP:0010436Aplasia of the proximal phalanx of the 2nd toe2 CL E G H
HP:0010347HP:0010435Short middle phalanx of the 2nd toe2 CL E G H
HP:0010347HP:0010434Aplasia of the middle phalanx of the 2nd toe2 CL E G H
HP:0010347HP:0010432Absent distal phalanx of the 2nd toe2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37


Genes (4) :ATP6V1B2 KCNN3 MAP3K20 TBC1D24

Diseases (3) :ORPHA:79500 OMIM:618658 ORPHA:488232
 

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