Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Grandparent Node:
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Broad finger (HP:0001500)help
Grandparent Node:
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Broad phalanx (HP:0006009)help
Grandparent Node:
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obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)help
Parent Node:
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Abnormal proximal phalanx morphology of the hand (HP:0009834)help
Parent Node:
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Broad phalanges of the hand (HP:0009768)help
..Starting node
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Broad proximal phalanges of the hand (HP:0009852)help
Term ID: 9852
Name: Broad proximal phalanges of the hand
Synonym: Broad innermost finger bones of the hand; Wide innermost finger bones of the hand
Definition: Increased width of the proximal phalanges of the finger.
Comments:
Reference: HP:0009852
Genes and Diseases:
 
       Child Nodes:
........expandBroad proximal phalanx of the 5th finger (HP:0009227) help
........expandBroad proximal phalanx of the 4th finger (HP:0009310) help
........expandBroad proximal phalanx of the 3rd finger (HP:0009450) help
........expandBroad proximal phalanx of the 2nd finger (HP:0009581) help
........expandBroad proximal phalanx of the thumb (HP:0009630) help
........expandBroad 1st metacarpal (HP:0010027) help

 Sister Nodes: 
..expandBroad distal phalanx of finger (HP:0009836) help
..expandBroad middle phalanx of finger (HP:0009844) help
..expandBroad phalanges of the 2nd finger (HP:0009547) help
..expandBroad phalanges of the 3rd finger (HP:0009440) help
..expandBroad phalanges of the 4th finger (HP:0009404) help
..expandBroad phalanges of the 5th finger (HP:0009374) help
..expandBroad thumb (HP:0011304) help
..expandExpanded phalanges with widened medullary cavities (HP:0006112) 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:0009852HP:0009852Broad proximal phalanges of the hand0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0009852HP:0009852Broad proximal phalanges of the hand0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0009852HP:0009852Broad proximal phalanges of the hand0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0009852HP:0009227Broad proximal phalanx of the 5th finger1 CL E G H
HP:0009852HP:0009630Broad proximal phalanx of the thumb1 CL E G H
HP:0009852HP:0009581Broad proximal phalanx of the 2nd finger1 CL E G H
HP:0009852HP:0009450Broad proximal phalanx of the 3rd finger1 CL E G H
HP:0009852HP:0009310Broad proximal phalanx of the 4th finger1 CL E G H
HP:0009852HP:0010027Broad 1st metacarpal1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101


Genes (3) :CDKL5 COL10A1 GNAS

Diseases (3) :ORPHA:505652 ORPHA:174 ORPHA:79443
 

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