Human Phenotype Ontology 
Grandparent Node:
expandAbnormal finger phalanx morphology (HP:0005918)help
Parent Node:
expandAplasia/Hypoplasia of the phalanges of the hand (HP:0009767)help
..Starting node
..expandAphalangy of the hands (HP:0005886)help
Term ID: 5886
Name: Aphalangy of the hands
Synonym:
Definition: Absence of a digit or of one or more phalanges of a finger.
Comments:
Reference: HP:0005886
Genes and Diseases:
 
       Child Nodes:
........expandAphalangy of hands and feet (HP:0200113) help

 Sister Nodes: 
..expandAplasia of the phalanges of the hand (HP:0009802) help
..expandAplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835) help
..expandAplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843) help
..expandAplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552) help
..expandAplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447) help
..expandAplasia/Hypoplasia of the phalanges of the 4th finger (HP:0009408) help
..expandAplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376) help
..expandAplasia/Hypoplasia of the phalanges of the thumb (HP:0009658) help
..expandAplasia/Hypoplasia of the proximal phalanges of the hand (HP:0009851) help
..expandShort phalanx of finger (HP:0009803) 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:0005886HP:0005886Aphalangy of the hands0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0005886HP:0200113Aphalangy of hands and feet1 CL E G H


Genes (1) :RECQL4

Diseases (1) :OMIM:218600
 

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