Human Phenotype Ontology 
Grandparent Node:
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Abnormal adipose tissue morphology (HP:0009124)help
Grandparent Node:
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Increased connective tissue (HP:0009025)help
Parent Node:
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Abnormality of the neck (HP:0000464)help
Parent Node:
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Increased adipose tissue (HP:0009126)help
..Starting node
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Increased adipose tissue around the neck (HP:0000468)help
Term ID: 468
Name: Increased adipose tissue around the neck
Synonym: Increased fat around the neck
Definition: An increased amount of subcutaneous fat tissue around the neck.
Comments:
Reference: HP:0000468
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIncreased intraabdominal fat (HP:0008993) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandIncreased subcutaneous truncal adipose tissue (HP:0009003) help
..expandLipedema (HP:0100695) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000468HP:0000468Increased adipose tissue around the neck0LIPE CL E G H3991435660ORPHA1826621151750
HP:0000468HP:0000468Increased adipose tissue around the neck0LMNA CL E G H4000280365ORPHA116226636150330
HP:0000468HP:0000468Increased adipose tissue around the neck0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0000468HP:0000468Increased adipose tissue around the neck0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :LIPE LMNA

Diseases (4) :435660 280365 151660 248370
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.