Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Grandparent Node:
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Abnormal morphology of bones of the upper limbs (HP:0040065)help
Grandparent Node:
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Broad finger (HP:0001500)help
Grandparent Node:
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Broad phalanx (HP:0006009)help
Parent Node:
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Broad phalanges of the hand (HP:0009768)help
..Starting node
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Expanded phalanges with widened medullary cavities (HP:0006112)help
Term ID: 6112
Name: Expanded phalanges with widened medullary cavities
Synonym:
Definition:
Comments:
Reference: HP:0006112
Genes and Diseases:
 
       Child Nodes:

 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 proximal phalanges of the hand (HP:0009852) help
..expandBroad thumb (HP:0011304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006112HP:0006112Expanded phalanges with widened medullary cavities0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :IFIH1

Diseases (1) :182250
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.