Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the hand (HP:0001155)help
Grandparent Node:
expand
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
Parent Node:
expand
Abnormality of the carpal bones (HP:0001191)help
Parent Node:
expand
Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
..Starting node
..expand
Aplasia/Hypoplasia involving the carpal bones (HP:0006502)help
Term ID: 6502
Name: Aplasia/Hypoplasia involving the carpal bones
Synonym: Absent/small wrist bones; Absent/underdeveloped wrist bones
Definition: Absence or underdevelopment of the carpal bones.
Comments:
Reference: HP:0006502
Genes and Diseases:
 
       Child Nodes:
........expandCarpal bone hypoplasia (HP:0001498) help
................... HP:0004247 Small scaphoid
................... HP:0004255 Small trapezium
................... HP:0004258 Small trapezoid bone
........expandCarpal bone aplasia (HP:0004231) help
................... HP:0011835 Absent scaphoid

 Sister Nodes: 
..expandAbsent hand (HP:0004050) help
..expandAplasia/Hypoplasia involving the metacarpal bones (HP:0005914) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandShort palm (HP:0004279) help
..expandSmall hand (HP:0200055) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones1WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones2WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (14) :ALDH18A1 COMP DYM EIF2AK3 GNPTAB KIF22 LMBR1 NANS RBM8A RECQL4 SALL4 TRPV4 WNT7A XRCC2

Diseases (16) :276820 601162 177170 223800 226980 576 252500 252600 603546 200500 610442 274000 218600 147750 184252 617247
 

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