Human Phenotype Ontology 
Grandparent Node:
expandLipomatous tumor (HP:0012031)help
Parent Node:
expandBenign neoplasm of the central nervous system (HP:0100835)help
Parent Node:
expandMultiple lipomas (HP:0001012)help
..Starting node
..expandMultiple central nervous system lipomas (HP:0100251)help
Term ID: 100251
Name: Multiple central nervous system lipomas
Synonym: Lipomas of the central nervous system
Definition: The presence of mulitple lipomas located in the central nervous system.
Comments:
Reference: HP:0100251
Genes and Diseases:
 
       Child Nodes:
........expandMidline central nervous system lipomas (HP:0006866) help
................... HP:0006931 Lipoma of corpus callosum

 Sister Nodes: 
..expandCutaneous angiolipomas (HP:0006773) help
..expandSubcutaneous lipoma (HP:0001031) 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:0100251HP:0100251Multiple central nervous system lipomas0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0100251HP:0100251Multiple central nervous system lipomas0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0100251HP:0100251Multiple central nervous system lipomas0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0100251HP:0100251Multiple central nervous system lipomas0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0100251HP:0100251Multiple central nervous system lipomas0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasia5
HP:0100251HP:0006866Midline central nervous system lipomas1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0100251HP:0006866Midline central nervous system lipomas1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0100251HP:0006866Midline central nervous system lipomas1ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0100251HP:0006866Midline central nervous system lipomas1ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0100251HP:0006931Pericallosal lipoma2ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040283 - Occasional5
HP:0100251HP:0006931Pericallosal lipoma2ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0100251HP:0006931Pericallosal lipoma2ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0100251HP:0034014Tubulonodular pericallosal lipoma3 CL E G H
HP:0100251HP:0034013Curvilinear pericallosal lipoma3 CL E G H


Genes (4) :ALX1 ALX3 FGFR1 ZSWIM6

Diseases (5) :ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613001 ORPHA:1827
 

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