Human Phenotype Ontology 
Grandparent Node:
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Abnormal distal phalanx morphology of finger (HP:0009832)help
Grandparent Node:
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Broad phalanges of the hand (HP:0009768)help
Parent Node:
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Broad distal phalanx of finger (HP:0009836)help
..Starting node
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Broad distal phalanges of all fingers (HP:0009880)help
Term ID: 9880
Name: Broad distal phalanges of all fingers
Synonym: Broad outermost hand bones
Definition: Abnormally wide (broad) distal phalanx of finger of all fingers.
Comments:
Reference: HP:0009880
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad distal phalanx of the 2nd finger (HP:0009558) help
..expandBroad distal phalanx of the 3rd finger (HP:0009422) help
..expandBroad distal phalanx of the 4th finger (HP:0009292) help
..expandBroad distal phalanx of the 5th finger (HP:0009240) help
..expandBroad distal phalanx of the thumb (HP:0009642) 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:0009880HP:0009880Broad distal phalanges of all fingers0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0009880HP:0009880Broad distal phalanges of all fingers0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0009880HP:0009880Broad distal phalanges of all fingers0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93


Genes (3) :B3GAT3 CHST3 IFT122

Diseases (2) :OMIM:245600 OMIM:218330
 

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