Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
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Abnormal digit morphology (HP:0011297)help
..Starting node
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Macrodactyly (HP:0004099)help
Term ID: 4099
Name: Macrodactyly
Synonym: Finger overgrowth; Megalodactyly
Definition: Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
Comments:
Reference: HP:0004099
Genes and Diseases:
 
       Child Nodes:
........expandMacrodactyly of finger (HP:0100746) help
........expandMacrodactyly of toe (HP:0100747) help

 Sister Nodes: 
..expandAbnormality of finger (HP:0001167) help
..expandAbnormality of toe (HP:0001780) help
..expandBroad phalanx (HP:0006009) help
..expandClinodactyly (HP:0030084) help
..expandClubbing (HP:0001217) help
..expandOligodactyly (HP:0012165) help
..expandPolydactyly (HP:0010442) help
..expandShort digit (HP:0011927) help
..expandSyndactyly (HP:0001159) 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:0004099HP:0004099Macrodactyly0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0004099HP:0004099Macrodactyly0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0004099HP:0004099Macrodactyly0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0004099HP:0004099Macrodactyly0PIK3CA CL E G H52908975OMIM:613089Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth.162
HP:0004099HP:0004099Macrodactyly0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.162
HP:0004099HP:0004099Macrodactyly0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040282 - Frequent162
HP:0004099HP:0004099Macrodactyly0PIK3CA CL E G H52908975OMIM:155500MACRODACTYLY.162
HP:0004099HP:0004099Macrodactyly0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0004099HP:0100747Macrodactyly of toe1 CL E G H
HP:0004099HP:0100746Macrodactyly of finger1 CL E G H


Genes (5) :AIP AKT1 GPR101 PIK3CA PTEN

Diseases (6) :ORPHA:963 ORPHA:744 OMIM:613089 OMIM:612918 ORPHA:276280 OMIM:155500
 

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