Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
Parent Node:
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Abnormal carpal morphology (HP:0001191)help
Parent Node:
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
..Starting node
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta240
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 214
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0LMBR1 CL E G H6432713243OMIM:200500ACHEIROPODY; ACHP106
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type214
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0006502HP:0006502Aplasia/Hypoplasia involving the carpal bones0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0006502HP:0001498Carpal bone hypoplasia1ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0006502HP:0001498Carpal bone hypoplasia1COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0006502HP:0001498Carpal bone hypoplasia1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0006502HP:0001498Carpal bone hypoplasia1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0006502HP:0001498Carpal bone hypoplasia1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0006502HP:0001498Carpal bone hypoplasia1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0006502HP:0001498Carpal bone hypoplasia1GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0006502HP:0001498Carpal bone hypoplasia1KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0006502HP:0004231Carpal bone aplasia1LMBR1 CL E G H6432713243OMIM:200500ACHEIROPODY; ACHP106
HP:0006502HP:0001498Carpal bone hypoplasia1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0006502HP:0001498Carpal bone hypoplasia1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0006502HP:0004231Carpal bone aplasia1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0006502HP:0001498Carpal bone hypoplasia1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0006502HP:0001498Carpal bone hypoplasia1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome.86
HP:0006502HP:0001498Carpal bone hypoplasia1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040282 - Frequent214
HP:0006502HP:0001498Carpal bone hypoplasia1TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type.214
HP:0006502HP:0004231Carpal bone aplasia1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0006502HP:0004231Carpal bone aplasia1XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0006502HP:0004258Small trapezoid bone2 CL E G H
HP:0006502HP:0004255Small trapezium2 CL E G H
HP:0006502HP:0004247Small scaphoid2 CL E G H
HP:0006502HP:0011835Absent scaphoid2XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U.125


Genes (16) :ALDH18A1 COMP DYM EIF2AK3 EXOC6B GNPTAB KIF22 LMBR1 NANS RBM8A RECQL4 RSPRY1 SALL4 TRPV4 WNT7A XRCC2

Diseases (18) :OMIM:601162 OMIM:177170 OMIM:223800 OMIM:226980 OMIM:618395 OMIM:252500 OMIM:252600 OMIM:603546 OMIM:200500 OMIM:610442 OMIM:274000 OMIM:218600 ORPHA:457395 OMIM:147750 ORPHA:93314 OMIM:184252 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.