Human Phenotype Ontology 
Grandparent Node:
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Abnormality of thumb phalanx (HP:0009602)help
Grandparent Node:
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Broad phalanges of the hand (HP:0009768)help
Parent Node:
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Abnormality of the distal phalanx of the thumb (HP:0009617)help
Parent Node:
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Broad distal phalanx of finger (HP:0009836)help
Parent Node:
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Broad thumb (HP:0011304)help
..Starting node
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Broad distal phalanx of the thumb (HP:0009642)help
Term ID: 9642
Name: Broad distal phalanx of the thumb
Synonym: Broad outermost bone of the thumb; Broad terminal thumb phalanx; Wide distal phalanx of thumb; Wide outermost bone of thumb
Definition: Increased width of the distal phalanx of thumb.
Comments:
Reference: HP:0009642
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad proximal phalanx of the thumb (HP:0009630) help
..expandSpatulate thumbs (HP:0001222) 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:0009642HP:0009642Broad distal phalanx of the thumb0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0009642HP:0009642Broad distal phalanx of the thumb0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0009642HP:0009642Broad distal phalanx of the thumb0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0009642HP:0009642Broad distal phalanx of the thumb0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0009642HP:0009642Broad distal phalanx of the thumb0HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D.25


Genes (4) :FGFR2 FLNA GNAS HOXD13

Diseases (5) :OMIM:101200 OMIM:311300 ORPHA:79443 ORPHA:79444 OMIM:113200
 

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