Human Phenotype Ontology 
Grandparent Node:
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Abnormal metacarpal morphology (HP:0005916)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
Parent Node:
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Abnormal 3rd metacarpal morphology (HP:0010011)help
Parent Node:
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Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)help
..Starting node
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Aplasia/Hypoplasia of the 3rd metacarpal (HP:0010039)help
Term ID: 10039
Name: Aplasia/Hypoplasia of the 3rd metacarpal
Synonym: Absent/small 3rd long bone of hand; Absent/underdeveloped 3rd long bone of hand
Definition: Aplasia or Hypoplasia affecting the 3rd metacarpal.
Comments:
Reference: HP:0010039
Genes and Diseases:
 
       Child Nodes:
........expandAplasia of the 3rd metacarpal (HP:0010040) help
........expandShort 3rd metacarpal (HP:0010041) help

 Sister Nodes: 
..expandAplasia of metacarpal bones (HP:0010048) help
..expandAplasia/Hypoplasia of the 1st metacarpal (HP:0010026) help
..expandAplasia/Hypoplasia of the 2nd metacarpal (HP:0010036) help
..expandAplasia/Hypoplasia of the 4th metacarpal (HP:0010042) help
..expandAplasia/Hypoplasia of the 5th metacarpal (HP:0010045) help
..expandShort metacarpal (HP:0010049) 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:0010039HP:0010039Aplasia/Hypoplasia of the 3rd metacarpal0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0010039HP:0010039Aplasia/Hypoplasia of the 3rd metacarpal0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0010039HP:0010039Aplasia/Hypoplasia of the 3rd metacarpal0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0010039HP:0010039Aplasia/Hypoplasia of the 3rd metacarpal0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010039HP:0010039Aplasia/Hypoplasia of the 3rd metacarpal0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010039HP:0010039Aplasia/Hypoplasia of the 3rd metacarpal0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0010039HP:0010041Short 3rd metacarpal1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0010039HP:0010041Short 3rd metacarpal1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0010039HP:0010041Short 3rd metacarpal1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0010039HP:0010041Short 3rd metacarpal1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010039HP:0010041Short 3rd metacarpal1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010039HP:0010040Aplasia of the 3rd metacarpal1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100


Genes (5) :FLNA GNAS LBR SVBP TBX3

Diseases (6) :OMIM:311300 ORPHA:79443 ORPHA:79444 OMIM:169400 OMIM:618569 OMIM:181450
 

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