Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the abdominal wall (HP:0004298)help
Parent Node:
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Abnormal umbilicus morphology (HP:0001551)help
..Starting node
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Prominent umbilicus (HP:0001544)help
Term ID: 1544
Name: Prominent umbilicus
Synonym: Prominent belly button; Prominent navel
Definition: Abnormally prominent umbilicus (belly button).
Comments:
Reference: HP:0001544
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandUmbilical hernia (HP:0001537) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001544HP:0001544Prominent umbilicus0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001544HP:0001544Prominent umbilicus0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001544HP:0001544Prominent umbilicus0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001544HP:0001544Prominent umbilicus0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001544HP:0001544Prominent umbilicus0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0001544HP:0001544Prominent umbilicus0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001544HP:0001544Prominent umbilicus0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM03193663300546
HP:0001544HP:0001544Prominent umbilicus0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM03123663300546


Genes (4) :AGPAT2 BSCL2 CAVIN1 FGD1

Diseases (4) :608594 269700 613327 305400
 

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