Human Phenotype Ontology 
Grandparent Node:
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Abnormal proximal phalanx morphology of the hand (HP:0009834)help
Grandparent Node:
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Broad phalanges of the hand (HP:0009768)help
Parent Node:
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Abnormal 1st metacarpal morphology (HP:0010009)help
Parent Node:
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Broad metacarpals (HP:0001230)help
Parent Node:
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Broad proximal phalanges of the hand (HP:0009852)help
..Starting node
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Broad 1st metacarpal (HP:0010027)help
Term ID: 10027
Name: Broad 1st metacarpal
Synonym: Wide 1st long bone of hand
Definition: Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Comments:
Reference: HP:0010027
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad proximal phalanx of the 2nd finger (HP:0009581) help
..expandBroad proximal phalanx of the 3rd finger (HP:0009450) help
..expandBroad proximal phalanx of the 4th finger (HP:0009310) help
..expandBroad proximal phalanx of the 5th finger (HP:0009227) help
..expandBroad proximal phalanx of the thumb (HP:0009630) 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:0010027HP:0010027Broad 1st metacarpal0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101


Genes (1) :GNAS

Diseases (1) :ORPHA:79443
 

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