Human Phenotype Ontology 
Grandparent Node:
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Abnormal adipose tissue morphology (HP:0009124)help
Parent Node:
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Lipodystrophy (HP:0009125)help
..Starting node
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Congenital generalized lipodystrophy (HP:0009059)help
Term ID: 9059
Name: Congenital generalized lipodystrophy
Synonym: Congenital generalised lipodystrophy
Definition:
Comments:
Reference: HP:0009059
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGeneralized lipodystrophy (HP:0009064) help
..expandLipoatrophy (HP:0100578) 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:0009059HP:0009059Congenital generalized lipodystrophy0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040280 - Obligate3
HP:0009059HP:0009059Congenital generalized lipodystrophy0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138


Genes (2) :KCNJ6 POLR3A

Diseases (2) :ORPHA:435628 ORPHA:3455
 

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