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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Abnormality of the distal phalanges of the toes (HP:0010182)help
Parent Node:
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Absent toe (HP:0010760)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 distal phalanges of the toes (HP:0010185)help
Term ID: 10185
Name: Aplasia/Hypoplasia of the distal phalanges of the toes
Synonym: Absent/hypoplastic terminal phalanges of toes; Absent/small outermost bones of toe; Absent/underdeveloped outermost bones of toe; Hypoplasia/agenesis of distal phalanges of toes
Definition: Absence or underdevelopment of the distal phalanges of the toes.
Comments:
Reference: HP:0010185
Genes and Diseases:
 
       Child Nodes:
........expandShort distal phalanx of toe (HP:0001857) help
................... HP:0005793 Shortening of all distal phalanges of the toes
........expandAplasia/Hypoplasia of the distal phalanx of the hallux (HP:0010076) help
................... HP:0010102 Aplasia of the distal phalanx of the hallux
................... HP:0010103 Short distal phalanx of hallux
........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 distal phalanges of the toes (HP:0010645) help
................... HP:0010102 Aplasia of the distal phalanx of the hallux
................... HP:0010432 Absent distal phalanx of the 2nd toe
................... HP:0100378 Absent distal phalanx of the 3rd toe
................... HP:0100379 Aplasia of the distal phalanx of the 4th toe
................... HP:0100380 Aplasia of the distal phalanx of the 5th toe
........expandAplasia/Hypoplasia of the distal phalanx of the 3rd toe (HP:0100369) help
................... HP:0100378 Absent distal phalanx of the 3rd toe
................... HP:0100389 Short distal phalanx of the 3rd toe
........expandAplasia/Hypoplasia of the distal phalanx of the 4th toe (HP:0100370) help
................... HP:0100379 Aplasia of the distal phalanx of the 4th toe
................... HP:0100390 Short distal phalanx of the 4th toe
........expandAplasia/Hypoplasia of the distal phalanx of the 5th toe (HP:0100371) help
................... HP:0100380 Aplasia of the distal phalanx of the 5th toe
................... HP:0100391 Short distal phalanx of the 5th 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 middle phalanges of the toes (HP:0010194) help
..expandAplasia/Hypoplasia of the phalanges of the 2nd toe (HP:0010347) 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes0NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM164477866602991
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes0RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM164477866602991
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes1RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM164477866602991
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0010185HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (19) :ARID1A ARID1B ARID2 DPF2 FIG4 FLNA HOXD13 KCNH1 MAP3K7 NOG PTHLH RIPK4 ROR2 SMARCA4 SMARCB1 SMARCE1 SOX11 TRPV4 VAC14

Diseases (12) :611377 1234 113000 1465 93387 135500 140908 606835 135900 3472 1826 85169
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.