Human Phenotype Ontology 
Grandparent Node:
expandAbnormal carpal morphology (HP:0001191)help
Grandparent Node:
expandAplasia/hypoplasia involving bones of the hand (HP:0005927)help
Parent Node:
expandAplasia/Hypoplasia involving the carpal bones (HP:0006502)help
..Starting node
..expandCarpal bone aplasia (HP:0004231)help
Term ID: 4231
Name: Carpal bone aplasia
Synonym: Absent carpal bone; Absent carpal bones; Absent carpal ossification center; Absent carpal ossification centre; Absent wrist bone; Aplastic carpal bone; Missing wrist bone
Definition: Congenital absence of a carpal bone.
Comments:
Reference: HP:0004231
Genes and Diseases:
 
       Child Nodes:
........expandAbsent scaphoid (HP:0011835) help

 Sister Nodes: 
..expandCarpal bone hypoplasia (HP:0001498) 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:0004231HP:0004231Carpal bone aplasia0LMBR1 CL E G H6432713243OMIM:200500ACHEIROPODY; ACHP106
HP:0004231HP:0004231Carpal bone aplasia0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0004231HP:0004231Carpal bone aplasia0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0004231HP:0004231Carpal bone aplasia0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0004231HP:0011835Absent scaphoid1XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U.125


Genes (4) :LMBR1 RECQL4 WNT7A XRCC2

Diseases (4) :OMIM:200500 OMIM:218600 OMIM:276820 OMIM:617247
 

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