Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of connective tissue (HP:0003549)help
Parent Node:
expand
Abnormal adipose tissue morphology (HP:0009124)help
..Starting node
..expand
Lipodystrophy (HP:0009125)help
Term ID: 9125
Name: Lipodystrophy
Synonym: Inability to make and keep healthy fat tissue
Definition: Degenerative changes of the fat tissue.
Comments:
Reference: HP:0009125
Genes and Diseases:
 
       Child Nodes:
........expandCongenital generalized lipodystrophy (HP:0009059) help
........expandGeneralized lipodystrophy (HP:0009064) help
........expandLipoatrophy (HP:0100578) help

 Sister Nodes: 
..expandAbnormality of facial adipose tissue (HP:0000291) help
..expandAbnormality of subcutaneous fat tissue (HP:0001001) help
..expandAdipocyte hypertrophy (HP:0030759) help
..expandDecreased adipose tissue (HP:0040063) help
..expandDiet-resistant subcutaneous adipose tissue (HP:0025384) help
..expandIncreased adipose tissue (HP:0009126) help
..expandLower extremity subcutanous fat hypertrophy (HP:0031451) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandPanniculitis (HP:0012490) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009125HP:0009125Lipodystrophy0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0009125HP:0009125Lipodystrophy0AKT2 CL E G H20879085ORPHA1115392164731
HP:0009125HP:0009125Lipodystrophy0ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0009125HP:0009125Lipodystrophy0ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0009125HP:0009125Lipodystrophy0ATP6V0A2 CL E G H235452834ORPHA148418481611716
HP:0009125HP:0009125Lipodystrophy0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM148418481611716
HP:0009125HP:0009125Lipodystrophy0ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0009125HP:0009125Lipodystrophy0ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0009125HP:0009125Lipodystrophy0B3GALT6 CL E G H12679275496ORPHA136617978615291
HP:0009125HP:0009125Lipodystrophy0B4GALT7 CL E G H1128575496ORPHA1286930604327
HP:0009125HP:0009125Lipodystrophy0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0009125HP:0009125Lipodystrophy0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0009125HP:0009125Lipodystrophy0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM11151527601047
HP:0009125HP:0009125Lipodystrophy0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0009125HP:0009125Lipodystrophy0CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0009125HP:0009125Lipodystrophy0CIDEC CL E G H63924435651ORPHA18124229612120
HP:0009125HP:0009125Lipodystrophy0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM18124229612120
HP:0009125HP:0009125Lipodystrophy0FGFR1 CL E G H22602396ORPHA16883688136350
HP:0009125HP:0009125Lipodystrophy0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0009125HP:0009125Lipodystrophy0KRAS CL E G H38452396ORPHA14406407190070
HP:0009125HP:0009125Lipodystrophy0LIPE CL E G H3991435660ORPHA1826621151750
HP:0009125HP:0009125Lipodystrophy0LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM1826621151750
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM116226636150330
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0009125HP:0009125Lipodystrophy0OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM140825118615712
HP:0009125HP:0009125Lipodystrophy0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13688979171833
HP:0009125HP:0009125Lipodystrophy0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13688979171833
HP:0009125HP:0009125Lipodystrophy0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0009125HP:0009125Lipodystrophy0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0009125HP:0009125Lipodystrophy0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM11139541602177
HP:0009125HP:0009125Lipodystrophy0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0009125HP:0009125Lipodystrophy0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1169546177045
HP:0009125HP:0009125Lipodystrophy0SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM15525356616086
HP:0009125HP:0009125Lipodystrophy0USP8 CL E G H910196253ORPHA113412631603158
HP:0009125HP:0009064Generalized lipodystrophy1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0009125HP:0009059Congenital generalized lipodystrophy1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0009125HP:0100578Lipoatrophy1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0009125HP:0009064Generalized lipodystrophy1AKT2 CL E G H20879085ORPHA1115392164731
HP:0009125HP:0009059Congenital generalized lipodystrophy1AKT2 CL E G H20879085ORPHA1115392164731
HP:0009125HP:0100578Lipoatrophy1AKT2 CL E G H20879085ORPHA1115392164731
HP:0009125HP:0009064Generalized lipodystrophy1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0009125HP:0009059Congenital generalized lipodystrophy1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0009125HP:0100578Lipoatrophy1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0009125HP:0009064Generalized lipodystrophy1ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0009125HP:0009064Generalized lipodystrophy1ATP6V0A2 CL E G H235452834ORPHA148418481611716
HP:0009125HP:0009059Congenital generalized lipodystrophy1ATP6V0A2 CL E G H235452834ORPHA148418481611716
HP:0009125HP:0009059Congenital generalized lipodystrophy1ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0009125HP:0100578Lipoatrophy1ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0009125HP:0100578Lipoatrophy1ATP6V0A2 CL E G H235452834ORPHA148418481611716
HP:0009125HP:0009064Generalized lipodystrophy1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM148418481611716
HP:0009125HP:0009059Congenital generalized lipodystrophy1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM148418481611716
HP:0009125HP:0100578Lipoatrophy1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM148418481611716
HP:0009125HP:0009064Generalized lipodystrophy1ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0009125HP:0009059Congenital generalized lipodystrophy1ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0009125HP:0100578Lipoatrophy1ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0009125HP:0009064Generalized lipodystrophy1ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0009125HP:0009059Congenital generalized lipodystrophy1ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0009125HP:0100578Lipoatrophy1ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0009125HP:0009064Generalized lipodystrophy1B3GALT6 CL E G H12679275496ORPHA136617978615291
HP:0009125HP:0009059Congenital generalized lipodystrophy1B3GALT6 CL E G H12679275496ORPHA136617978615291
HP:0009125HP:0100578Lipoatrophy1B3GALT6 CL E G H12679275496ORPHA136617978615291
HP:0009125HP:0009064Generalized lipodystrophy1B4GALT7 CL E G H1128575496ORPHA1286930604327
HP:0009125HP:0009059Congenital generalized lipodystrophy1B4GALT7 CL E G H1128575496ORPHA1286930604327
HP:0009125HP:0100578Lipoatrophy1B4GALT7 CL E G H1128575496ORPHA1286930604327
HP:0009125HP:0009064Generalized lipodystrophy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0009125HP:0009059Congenital generalized lipodystrophy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0009125HP:0100578Lipoatrophy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0009125HP:0009064Generalized lipodystrophy1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0009125HP:0009059Congenital generalized lipodystrophy1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0009125HP:0100578Lipoatrophy1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0009125HP:0009064Generalized lipodystrophy1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM11151527601047
HP:0009125HP:0009059Congenital generalized lipodystrophy1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM11151527601047
HP:0009125HP:0100578Lipoatrophy1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM11151527601047
HP:0009125HP:0009064Generalized lipodystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0009125HP:0009059Congenital generalized lipodystrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0009125HP:0100578Lipoatrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0009125HP:0009064Generalized lipodystrophy1CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0009125HP:0009059Congenital generalized lipodystrophy1CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0009125HP:0100578Lipoatrophy1CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0009125HP:0009064Generalized lipodystrophy1CIDEC CL E G H63924435651ORPHA18124229612120
HP:0009125HP:0009059Congenital generalized lipodystrophy1CIDEC CL E G H63924435651ORPHA18124229612120
HP:0009125HP:0100578Lipoatrophy1CIDEC CL E G H63924435651ORPHA18124229612120
HP:0009125HP:0009064Generalized lipodystrophy1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM18124229612120
HP:0009125HP:0009059Congenital generalized lipodystrophy1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM18124229612120
HP:0009125HP:0100578Lipoatrophy1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM18124229612120
HP:0009125HP:0009064Generalized lipodystrophy1FGFR1 CL E G H22602396ORPHA16883688136350
HP:0009125HP:0009059Congenital generalized lipodystrophy1FGFR1 CL E G H22602396ORPHA16883688136350
HP:0009125HP:0100578Lipoatrophy1FGFR1 CL E G H22602396ORPHA16883688136350
HP:0009125HP:0009064Generalized lipodystrophy1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0009125HP:0009059Congenital generalized lipodystrophy1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0009125HP:0100578Lipoatrophy1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0009125HP:0009064Generalized lipodystrophy1KRAS CL E G H38452396ORPHA14406407190070
HP:0009125HP:0009059Congenital generalized lipodystrophy1KRAS CL E G H38452396ORPHA14406407190070
HP:0009125HP:0100578Lipoatrophy1KRAS CL E G H38452396ORPHA14406407190070
HP:0009125HP:0009064Generalized lipodystrophy1LIPE CL E G H3991435660ORPHA1826621151750
HP:0009125HP:0009059Congenital generalized lipodystrophy1LIPE CL E G H3991435660ORPHA1826621151750
HP:0009125HP:0100578Lipoatrophy1LIPE CL E G H3991435660ORPHA1826621151750
HP:0009125HP:0009064Generalized lipodystrophy1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM1826621151750
HP:0009125HP:0009059Congenital generalized lipodystrophy1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM1826621151750
HP:0009125HP:0100578Lipoatrophy1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM1826621151750
HP:0009125HP:0009064Generalized lipodystrophy1LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM116226636150330
HP:0009125HP:0009059Congenital generalized lipodystrophy1LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM116226636150330
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM116226636150330
HP:0009125HP:0009064Generalized lipodystrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0009125HP:0009059Congenital generalized lipodystrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0009125HP:0009064Generalized lipodystrophy1LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0009125HP:0009059Congenital generalized lipodystrophy1LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0009125HP:0009064Generalized lipodystrophy1OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM140825118615712
HP:0009125HP:0009059Congenital generalized lipodystrophy1OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM140825118615712
HP:0009125HP:0100578Lipoatrophy1OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM140825118615712
HP:0009125HP:0009064Generalized lipodystrophy1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13688979171833
HP:0009125HP:0009059Congenital generalized lipodystrophy1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13688979171833
HP:0009125HP:0100578Lipoatrophy1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13688979171833
HP:0009125HP:0009064Generalized lipodystrophy1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13688979171833
HP:0009125HP:0009059Congenital generalized lipodystrophy1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13688979171833
HP:0009125HP:0100578Lipoatrophy1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13688979171833
HP:0009125HP:0009064Generalized lipodystrophy1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0009125HP:0009059Congenital generalized lipodystrophy1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0009125HP:0100578Lipoatrophy1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0009125HP:0009064Generalized lipodystrophy1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0009125HP:0009059Congenital generalized lipodystrophy1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0009125HP:0100578Lipoatrophy1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0009125HP:0009064Generalized lipodystrophy1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM11139541602177
HP:0009125HP:0009059Congenital generalized lipodystrophy1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM11139541602177
HP:0009125HP:0100578Lipoatrophy1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM11139541602177
HP:0009125HP:0009064Generalized lipodystrophy1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0009125HP:0009059Congenital generalized lipodystrophy1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0009125HP:0100578Lipoatrophy1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0009125HP:0009064Generalized lipodystrophy1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1169546177045
HP:0009125HP:0009059Congenital generalized lipodystrophy1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1169546177045
HP:0009125HP:0100578Lipoatrophy1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1169546177045
HP:0009125HP:0009064Generalized lipodystrophy1SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM15525356616086
HP:0009125HP:0009059Congenital generalized lipodystrophy1SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM15525356616086
HP:0009125HP:0100578Lipoatrophy1SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM15525356616086
HP:0009125HP:0009064Generalized lipodystrophy1USP8 CL E G H910196253ORPHA113412631603158
HP:0009125HP:0009059Congenital generalized lipodystrophy1USP8 CL E G H910196253ORPHA113412631603158
HP:0009125HP:0100578Lipoatrophy1USP8 CL E G H910196253ORPHA113412631603158
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009125HP:0009125Lipodystrophy0DDOST CL E G H1650300536ORPHA01872728602202
HP:0009125HP:0009125Lipodystrophy0EMD CL E G H201098863ORPHA06183331300384
HP:0009125HP:0009125Lipodystrophy0FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM059703603134797
HP:0009125HP:0009125Lipodystrophy0FHL1 CL E G H227398863ORPHA05173702300163
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H4000264ORPHA016226636150330
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H400098855ORPHA016226636150330
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H400098853ORPHA016226636150330
HP:0009125HP:0009125Lipodystrophy0SLC29A3 CL E G H55315168569ORPHA034523096612373
HP:0009125HP:0009125Lipodystrophy0SYNE1 CL E G H2334598853ORPHA0459817089608441
HP:0009125HP:0009125Lipodystrophy0SYNE2 CL E G H2322498853ORPHA0249717084608442
HP:0009125HP:0009125Lipodystrophy0TMEM43 CL E G H7918898853ORPHA074028472612048
HP:0009125HP:0009064Generalized lipodystrophy1DDOST CL E G H1650300536ORPHA01872728602202
HP:0009125HP:0009059Congenital generalized lipodystrophy1DDOST CL E G H1650300536ORPHA01872728602202
HP:0009125HP:0100578Lipoatrophy1DDOST CL E G H1650300536ORPHA01872728602202
HP:0009125HP:0009064Generalized lipodystrophy1EMD CL E G H201098863ORPHA06183331300384
HP:0009125HP:0009059Congenital generalized lipodystrophy1EMD CL E G H201098863ORPHA06183331300384
HP:0009125HP:0100578Lipoatrophy1EMD CL E G H201098863ORPHA06183331300384
HP:0009125HP:0009064Generalized lipodystrophy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM059703603134797
HP:0009125HP:0009059Congenital generalized lipodystrophy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM059703603134797
HP:0009125HP:0100578Lipoatrophy1FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM059703603134797
HP:0009125HP:0009064Generalized lipodystrophy1FHL1 CL E G H227398863ORPHA05173702300163
HP:0009125HP:0009059Congenital generalized lipodystrophy1FHL1 CL E G H227398863ORPHA05173702300163
HP:0009125HP:0100578Lipoatrophy1FHL1 CL E G H227398863ORPHA05173702300163
HP:0009125HP:0009064Generalized lipodystrophy1LMNA CL E G H400098853ORPHA016226636150330
HP:0009125HP:0009064Generalized lipodystrophy1LMNA CL E G H4000264ORPHA016226636150330
HP:0009125HP:0009064Generalized lipodystrophy1LMNA CL E G H400098855ORPHA016226636150330
HP:0009125HP:0009059Congenital generalized lipodystrophy1LMNA CL E G H400098853ORPHA016226636150330
HP:0009125HP:0009059Congenital generalized lipodystrophy1LMNA CL E G H4000264ORPHA016226636150330
HP:0009125HP:0009059Congenital generalized lipodystrophy1LMNA CL E G H400098855ORPHA016226636150330
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H4000264ORPHA016226636150330
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H400098855ORPHA016226636150330
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H400098853ORPHA016226636150330
HP:0009125HP:0009064Generalized lipodystrophy1SLC29A3 CL E G H55315168569ORPHA034523096612373
HP:0009125HP:0009059Congenital generalized lipodystrophy1SLC29A3 CL E G H55315168569ORPHA034523096612373
HP:0009125HP:0100578Lipoatrophy1SLC29A3 CL E G H55315168569ORPHA034523096612373
HP:0009125HP:0009064Generalized lipodystrophy1SYNE1 CL E G H2334598853ORPHA0459817089608441
HP:0009125HP:0009059Congenital generalized lipodystrophy1SYNE1 CL E G H2334598853ORPHA0459817089608441
HP:0009125HP:0100578Lipoatrophy1SYNE1 CL E G H2334598853ORPHA0459817089608441
HP:0009125HP:0009064Generalized lipodystrophy1SYNE2 CL E G H2322498853ORPHA0249717084608442
HP:0009125HP:0009059Congenital generalized lipodystrophy1SYNE2 CL E G H2322498853ORPHA0249717084608442
HP:0009125HP:0100578Lipoatrophy1SYNE2 CL E G H2322498853ORPHA0249717084608442
HP:0009125HP:0009064Generalized lipodystrophy1TMEM43 CL E G H7918898853ORPHA074028472612048
HP:0009125HP:0009059Congenital generalized lipodystrophy1TMEM43 CL E G H7918898853ORPHA074028472612048
HP:0009125HP:0100578Lipoatrophy1TMEM43 CL E G H7918898853ORPHA074028472612048


Genes (102) :ABCC9 ACTB ACTC1 ACTN2 ADAR AGPAT2 AKT2 ALB ANKRD1 ATP6V0A2 ATP6V1A ATP6V1E1 B3GALT6 B4GALT7 BAG3 BANF1 BSCL2 CAV1 CAVIN1 CDH23 CIDEC CLMP COL3A1 CRYAB CSRP3 DDOST DES DMD DOLK DSG2 EMD FBN1 FGFR1 FHL1 FHL2 FKTN FLNA FOS FUCA1 GATAD1 IFIH1 IGF1R INSR KCNJ6 KRAS LAMA4 LDB3 LIPE LMNA LMNB2 MYBPC3 MYH6 MYH7 MYPN NEBL NEXN OTULIN PDGFRB PIK3CA PIK3R1 PLIN1 PLN POLD1 POLR3A PPARG PPCS PRDM16 PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 RAF1 RBM20 RNASEH2A RNASEH2B RNASEH2C SAMHD1 SCN5A SDHA SGCD SLC25A24 SLC29A3 SPRTN SYNE1 SYNE2 TAF1A TAZ TCAP TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TREX1 TTN TXNRD2 USP8 VCL WRN ZMPSTE24

Diseases (69) :608594 79085 616000 357074 2834 219200 75496 269700 612526 606721 613327 96253 435651 615238 300536 98863 184900 2396 270450 435660 615980 98855 98853 264 212112 151660 248370 617099 3163 269880 615381 604367 617591 256040 168569 616200 154 64755 51 528 614008 363400 2301 2500 91131 2833 284979 349 508 435628 614098 79474 2348 280365 79084 363618 740 79087 601812 276280 280356 613877 264090 79083 2615 2963 902 90154 608612
 

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