Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of fatty tissue (HP:0200013)help
Parent Node:
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Lipomatous tumor (HP:0012031)help
..Starting node
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Lipoma (HP:0012032)help
Term ID: 12032
Name: Lipoma
Synonym: Fatty lump; Noncancerous fatty lump
Definition: Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
Comments:
Reference: HP:0012032
Genes and Diseases:
 
       Child Nodes:
........expandFrontal cutaneous lipoma (HP:0007541) help
........expandSacral lipoma (HP:0012033) help
........expandLipoma of the tongue (HP:0030815) help
........expandLipomas of eyelids (HP:0040164) help

 Sister Nodes: 
..expandLiposarcoma (HP:0012034) help
..expandMultiple lipomas (HP:0001012) 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:0012032HP:0012032Lipoma0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0012032HP:0012032Lipoma0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0012032HP:0012032Lipoma0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0012032HP:0012032Lipoma0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0012032HP:0012032Lipoma0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0012032HP:0012032Lipoma0APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040282 - Frequent3179
HP:0012032HP:0012032Lipoma0CCL2 CL E G H634710618OMIM:182940Neural tube defects, susceptibility to.3
HP:0012032HP:0012032Lipoma0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040284 - Very rare169
HP:0012032HP:0012032Lipoma0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040284 - Very rare169
HP:0012032HP:0012032Lipoma0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0012032HP:0012032Lipoma0FUZ CL E G H8019926219OMIM:182940Neural tube defects, susceptibility to.3
HP:0012032HP:0012032Lipoma0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0012032HP:0012032Lipoma0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0012032HP:0012032Lipoma0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal neviHP:0040282 - Frequent162
HP:0012032HP:0012032Lipoma0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0012032HP:0012032Lipoma0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0012032HP:0012032Lipoma0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0012032HP:0012032Lipoma0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0012032HP:0012032Lipoma0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0012032HP:0012032Lipoma0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome10
HP:0012032HP:0012032Lipoma0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0012032HP:0012032Lipoma0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0012032HP:0012032Lipoma0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0012032HP:0012032Lipoma0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0012032HP:0012032Lipoma0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0012032HP:0012032Lipoma0TBXT CL E G H686211515OMIM:182940Neural tube defects, susceptibility to.
HP:0012032HP:0012032Lipoma0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0012032HP:0012032Lipoma0VANGL1 CL E G H8183915512OMIM:182940Neural tube defects, susceptibility to.111
HP:0012032HP:0012032Lipoma0VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele111
HP:0012032HP:0012032Lipoma0VANGL2 CL E G H5721615511OMIM:182940Neural tube defects, susceptibility to.2
HP:0012032HP:0012032Lipoma0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0012032HP:0040164Lipomas of eyelids1 CL E G H
HP:0012032HP:0030815Lipoma of the tongue1 CL E G H
HP:0012032HP:0007541Frontal cutaneous lipoma1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0012032HP:0012033Sacral lipoma1RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0012032HP:0012033Sacral lipoma1VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele.111


Genes (22) :AKT1 ALX3 APC CCL2 CDC73 FGFR1 FUZ KLLN MSTO1 PIK3CA PTEN RPL10 SDHB SDHC SDHD SEC23B TAF1 TBXT USF3 VANGL1 VANGL2 ZSWIM6

Diseases (18) :ORPHA:201 ORPHA:744 OMIM:176920 OMIM:136760 ORPHA:247806 ORPHA:79665 OMIM:182940 ORPHA:99880 ORPHA:143 OMIM:613001 ORPHA:502423 OMIM:612918 ORPHA:109 ORPHA:459070 ORPHA:435938 ORPHA:480907 OMIM:600145 OMIM:603671
 

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