Human Phenotype Ontology 
Grandparent Node:
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Edema (HP:0000969)help
Parent Node:
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Generalized edema (HP:0007430)help
..Starting node
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Anasarca (HP:0012050)help
Term ID: 12050
Name: Anasarca
Synonym: Extreme generalised oedema; Extreme generalized edema
Definition: An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
Comments:
Reference: HP:0012050
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012050HP:0012050Anasarca0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012050HP:0012050Anasarca0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0012050HP:0012050Anasarca0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0012050HP:0012050Anasarca0PLVAP CL E G H8348313635OMIM:618183Diarrhea 10, protein-losing Enteropathy type.
HP:0012050HP:0012050Anasarca0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040284 - Very rare150
HP:0012050HP:0012050Anasarca0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25


Genes (6) :DEF6 DPAGT1 FARSB PLVAP PMM2 UBR1

Diseases (6) :OMIM:619573 ORPHA:86309 OMIM:613658 OMIM:618183 ORPHA:79318 OMIM:243800
 

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