Human Phenotype Ontology 
Grandparent Node:
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Abnormal carpal morphology (HP:0001191)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
Parent Node:
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Aplasia/Hypoplasia involving the carpal bones (HP:0006502)help
..Starting node
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Carpal bone hypoplasia (HP:0001498)help
Term ID: 1498
Name: Carpal bone hypoplasia
Synonym: Hypoplasia of carpal bones; Hypoplastic carpal bones; Small carpal bones; Small carpals; Small wrist bones
Definition: Underdevelopment of one or more carpal bones.
Comments:
Reference: HP:0001498
Genes and Diseases:
 
       Child Nodes:
........expandSmall scaphoid (HP:0004247) help
........expandSmall trapezium (HP:0004255) help
........expandSmall trapezoid bone (HP:0004258) help

 Sister Nodes: 
..expandCarpal bone aplasia (HP:0004231) 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:0001498HP:0001498Carpal bone hypoplasia0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0001498HP:0001498Carpal bone hypoplasia0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0001498HP:0001498Carpal bone hypoplasia0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0001498HP:0001498Carpal bone hypoplasia0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0001498HP:0001498Carpal bone hypoplasia0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0001498HP:0001498Carpal bone hypoplasia0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001498HP:0001498Carpal bone hypoplasia0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0001498HP:0001498Carpal bone hypoplasia0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0001498HP:0001498Carpal bone hypoplasia0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0001498HP:0001498Carpal bone hypoplasia0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001498HP:0001498Carpal bone hypoplasia0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001498HP:0001498Carpal bone hypoplasia0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome.86
HP:0001498HP:0001498Carpal bone hypoplasia0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040282 - Frequent214
HP:0001498HP:0001498Carpal bone hypoplasia0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type.214
HP:0001498HP:0004258Small trapezoid bone1 CL E G H
HP:0001498HP:0004255Small trapezium1 CL E G H
HP:0001498HP:0004247Small scaphoid1 CL E G H


Genes (12) :ALDH18A1 COMP DYM EIF2AK3 EXOC6B GNPTAB KIF22 NANS RBM8A RSPRY1 SALL4 TRPV4

Diseases (14) :OMIM:601162 OMIM:177170 OMIM:223800 OMIM:226980 OMIM:618395 OMIM:252500 OMIM:252600 OMIM:603546 OMIM:610442 OMIM:274000 ORPHA:457395 OMIM:147750 ORPHA:93314 OMIM:184252
 

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