Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating lipid concentration (HP:0003119)help
Parent Node:
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Hyperlipidemia (HP:0003077)help
..Starting node
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Hypertriglyceridemia (HP:0002155)help
Term ID: 2155
Name: Hypertriglyceridemia
Synonym: Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides
Definition: An abnormal increase in the level of triglycerides in the blood.
Comments:
Reference: HP:0002155
Genes and Diseases:
 
       Child Nodes:
........expandLactescent serum (HP:0031028) help

 Sister Nodes: 
..expandTransient hyperlipidemia (HP:0008279) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002155HP:0002155Hypertriglyceridemia0ABCA1 CL E G H1931150ORPHA166429600046
HP:0002155HP:0002155Hypertriglyceridemia0ABCA1 CL E G H1931150ORPHA157629600046
HP:0002155HP:0002155Hypertriglyceridemia0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002155HP:0002155Hypertriglyceridemia0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002155HP:0002155Hypertriglyceridemia0AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA11529321610860
HP:0002155HP:0002155Hypertriglyceridemia0AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA11299321610860
HP:0002155HP:0002155Hypertriglyceridemia0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0002155HP:0002155Hypertriglyceridemia0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0002155HP:0002155Hypertriglyceridemia0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0002155HP:0002155Hypertriglyceridemia0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0002155HP:0002155Hypertriglyceridemia0AKT2 CL E G H20879085ORPHA194392164731
HP:0002155HP:0002155Hypertriglyceridemia0AKT2 CL E G H20879085ORPHA177392164731
HP:0002155HP:0002155Hypertriglyceridemia0ALMS1 CL E G H784064ORPHA13342428606844
HP:0002155HP:0002155Hypertriglyceridemia0ALMS1 CL E G H784064ORPHA12504428606844
HP:0002155HP:0002155Hypertriglyceridemia0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002155HP:0002155Hypertriglyceridemia0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002155HP:0002155Hypertriglyceridemia0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM159609608083
HP:0002155HP:0002155Hypertriglyceridemia0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM157609608083
HP:0002155HP:0002155Hypertriglyceridemia0APOE CL E G H348412ORPHA180613107741
HP:0002155HP:0002155Hypertriglyceridemia0APOE CL E G H348412ORPHA178613107741
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580363400ORPHA137315832606158
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580363400ORPHA133015832606158
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0002155HP:0002155Hypertriglyceridemia0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0002155HP:0002155Hypertriglyceridemia0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0002155HP:0002155Hypertriglyceridemia0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0002155HP:0002155Hypertriglyceridemia0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0002155HP:0002155Hypertriglyceridemia0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0002155HP:0002155Hypertriglyceridemia0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0002155HP:0002155Hypertriglyceridemia0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0002155HP:0002155Hypertriglyceridemia0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0002155HP:0002155Hypertriglyceridemia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002155HP:0002155Hypertriglyceridemia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002155HP:0002155Hypertriglyceridemia0CIDEC CL E G H63924435651ORPHA17624229612120
HP:0002155HP:0002155Hypertriglyceridemia0CIDEC CL E G H63924435651ORPHA17124229612120
HP:0002155HP:0002155Hypertriglyceridemia0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM17624229612120
HP:0002155HP:0002155Hypertriglyceridemia0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM17124229612120
HP:0002155HP:0002155Hypertriglyceridemia0CYP7A1 CL E G H1581209902ORPHA11002651118455
HP:0002155HP:0002155Hypertriglyceridemia0CYP7A1 CL E G H1581209902ORPHA1972651118455
HP:0002155HP:0002155Hypertriglyceridemia0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0002155HP:0002155Hypertriglyceridemia0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0002155HP:0002155Hypertriglyceridemia0EMD CL E G H201098863ORPHA15793331300384
HP:0002155HP:0002155Hypertriglyceridemia0EMD CL E G H201098863ORPHA15303331300384
HP:0002155HP:0002155Hypertriglyceridemia0FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM12823647612386
HP:0002155HP:0002155Hypertriglyceridemia0FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM12543647612386
HP:0002155HP:0002155Hypertriglyceridemia0FHL1 CL E G H227398863ORPHA14863702300163
HP:0002155HP:0002155Hypertriglyceridemia0FHL1 CL E G H227398863ORPHA14373702300163
HP:0002155HP:0002155Hypertriglyceridemia0FLII CL E G H2314819ORPHA11583750600362
HP:0002155HP:0002155Hypertriglyceridemia0FLII CL E G H2314819ORPHA11553750600362
HP:0002155HP:0002155Hypertriglyceridemia0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0002155HP:0002155Hypertriglyceridemia0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0002155HP:0002155Hypertriglyceridemia0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0002155HP:0002155Hypertriglyceridemia0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1694455138420
HP:0002155HP:0002155Hypertriglyceridemia0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1524455138420
HP:0002155HP:0002155Hypertriglyceridemia0GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA110424945612757
HP:0002155HP:0002155Hypertriglyceridemia0GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA19524945612757
HP:0002155HP:0002155Hypertriglyceridemia0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0002155HP:0002155Hypertriglyceridemia0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0002155HP:0002155Hypertriglyceridemia0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0002155HP:0002155Hypertriglyceridemia0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0002155HP:0002155Hypertriglyceridemia0LCAT CL E G H3931136120Fish-eye disease136120C0342895OMIM11006522606967
HP:0002155HP:0002155Hypertriglyceridemia0LCAT CL E G H3931136120Fish-eye disease136120C0342895OMIM1896522606967
HP:0002155HP:0002155Hypertriglyceridemia0LCAT CL E G H3931245900Norum disease245900C0023195OMIM11006522606967
HP:0002155HP:0002155Hypertriglyceridemia0LCAT CL E G H3931245900Norum disease245900C0023195OMIM1896522606967
HP:0002155HP:0002155Hypertriglyceridemia0LDLRAP1 CL E G H26119603813Hypercholesterolemia, autosomal recessive603813C1863512OMIM127318640605747
HP:0002155HP:0002155Hypertriglyceridemia0LDLRAP1 CL E G H26119603813Hypercholesterolemia, autosomal recessive603813C1863512OMIM124818640605747
HP:0002155HP:0002155Hypertriglyceridemia0LEP CL E G H395266628ORPHA11136553164160
HP:0002155HP:0002155Hypertriglyceridemia0LEP CL E G H395266628ORPHA11126553164160
HP:0002155HP:0002155Hypertriglyceridemia0LEPR CL E G H3953179494ORPHA12206554601007
HP:0002155HP:0002155Hypertriglyceridemia0LEPR CL E G H3953179494ORPHA12036554601007
HP:0002155HP:0002155Hypertriglyceridemia0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA13726617613497
HP:0002155HP:0002155Hypertriglyceridemia0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA13396617613497
HP:0002155HP:0002155Hypertriglyceridemia0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM13726617613497
HP:0002155HP:0002155Hypertriglyceridemia0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM13396617613497
HP:0002155HP:0002155Hypertriglyceridemia0LIPC CL E G H3990140905ORPHA11626619151670
HP:0002155HP:0002155Hypertriglyceridemia0LIPC CL E G H3990140905ORPHA11446619151670
HP:0002155HP:0002155Hypertriglyceridemia0LIPE CL E G H3991435660ORPHA1826621151750
HP:0002155HP:0002155Hypertriglyceridemia0LIPE CL E G H3991435660ORPHA1786621151750
HP:0002155HP:0002155Hypertriglyceridemia0LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA122514154611761
HP:0002155HP:0002155Hypertriglyceridemia0LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA119214154611761
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H40002348ORPHA114866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000363618ORPHA114866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H400079474ORPHA114866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H400098855ORPHA114866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H400098853ORPHA114866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000280365ORPHA114866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H40002348ORPHA113476636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000363618ORPHA113476636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H400079474ORPHA113476636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H400098855ORPHA113476636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H400098853ORPHA113476636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000280365ORPHA113476636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0002155HP:0002155Hypertriglyceridemia0NSMCE2 CL E G H286053436182ORPHA17126513617246
HP:0002155HP:0002155Hypertriglyceridemia0NSMCE2 CL E G H286053436182ORPHA15826513617246
HP:0002155HP:0002155Hypertriglyceridemia0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14658926300798
HP:0002155HP:0002155Hypertriglyceridemia0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14298926300798
HP:0002155HP:0002155Hypertriglyceridemia0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11568931172471
HP:0002155HP:0002155Hypertriglyceridemia0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11488931172471
HP:0002155HP:0002155Hypertriglyceridemia0PLIN1 CL E G H5346280356ORPHA11029076170290
HP:0002155HP:0002155Hypertriglyceridemia0PLIN1 CL E G H5346280356ORPHA1949076170290
HP:0002155HP:0002155Hypertriglyceridemia0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0002155HP:0002155Hypertriglyceridemia0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0002155HP:0002155Hypertriglyceridemia0PLVAP CL E G H83483618183DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE618183OMIM12513635607647
HP:0002155HP:0002155Hypertriglyceridemia0PLVAP CL E G H83483618183DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE618183OMIM12413635607647
HP:0002155HP:0002155Hypertriglyceridemia0PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002155HP:0002155Hypertriglyceridemia0PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002155HP:0002155Hypertriglyceridemia0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM131249175174761
HP:0002155HP:0002155Hypertriglyceridemia0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM127829175174761
HP:0002155HP:0002155Hypertriglyceridemia0PPARG CL E G H546879083ORPHA11249236601487
HP:0002155HP:0002155Hypertriglyceridemia0PPARG CL E G H546879083ORPHA11089236601487
HP:0002155HP:0002155Hypertriglyceridemia0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0002155HP:0002155Hypertriglyceridemia0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0002155HP:0002155Hypertriglyceridemia0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
HP:0002155HP:0002155Hypertriglyceridemia0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0002155HP:0002155Hypertriglyceridemia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM13549360170280
HP:0002155HP:0002155Hypertriglyceridemia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM12949360170280
HP:0002155HP:0002155Hypertriglyceridemia0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0002155HP:0002155Hypertriglyceridemia0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0002155HP:0002155Hypertriglyceridemia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0002155HP:0002155Hypertriglyceridemia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0002155HP:0002155Hypertriglyceridemia0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0002155HP:0002155Hypertriglyceridemia0PYGL CL E G H5836232700Glycogen storage disease, type VI232700C0017925OMIM12429725613741
HP:0002155HP:0002155Hypertriglyceridemia0PYGL CL E G H5836232700Glycogen storage disease, type VI232700C0017925OMIM12209725613741
HP:0002155HP:0002155Hypertriglyceridemia0RAI1 CL E G H10743819ORPHA18069834607642
HP:0002155HP:0002155Hypertriglyceridemia0RAI1 CL E G H10743819ORPHA15159834607642
HP:0002155HP:0002155Hypertriglyceridemia0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM18069834607642
HP:0002155HP:0002155Hypertriglyceridemia0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM15159834607642
HP:0002155HP:0002155Hypertriglyceridemia0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0002155HP:0002155Hypertriglyceridemia0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0002155HP:0002155Hypertriglyceridemia0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM17110817603729
HP:0002155HP:0002155Hypertriglyceridemia0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM15510817603729
HP:0002155HP:0002155Hypertriglyceridemia0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM145110983603859
HP:0002155HP:0002155Hypertriglyceridemia0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM139310983603859
HP:0002155HP:0002155Hypertriglyceridemia0SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM145110983603859
HP:0002155HP:0002155Hypertriglyceridemia0SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM139310983603859
HP:0002155HP:0002155Hypertriglyceridemia0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM165211120607608
HP:0002155HP:0002155Hypertriglyceridemia0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM160511120607608
HP:0002155HP:0002155Hypertriglyceridemia0STXBP2 CL E G H6813613101Hemophagocytic lymphohistiocytosis, familial, 5613101C2751293OMIM146911445601717
HP:0002155HP:0002155Hypertriglyceridemia0STXBP2 CL E G H6813613101Hemophagocytic lymphohistiocytosis, familial, 5613101C2751293OMIM132211445601717
HP:0002155HP:0002155Hypertriglyceridemia0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002155HP:0002155Hypertriglyceridemia0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002155HP:0002155Hypertriglyceridemia0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002155HP:0002155Hypertriglyceridemia0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002155HP:0002155Hypertriglyceridemia0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002155HP:0002155Hypertriglyceridemia0TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002155HP:0002155Hypertriglyceridemia0TTPA CL E G H7274277460Ataxia with vitamin E deficiency277460C1848533OMIM126212404600415
HP:0002155HP:0002155Hypertriglyceridemia0TTPA CL E G H7274277460Ataxia with vitamin E deficiency277460C1848533OMIM121812404600415
HP:0002155HP:0002155Hypertriglyceridemia0UNC13D CL E G H201294608898Hemophagocytic lymphohistiocytosis, familial, 3608898C1837174OMIM171023147608897
HP:0002155HP:0002155Hypertriglyceridemia0UNC13D CL E G H201294608898Hemophagocytic lymphohistiocytosis, familial, 3608898C1837174OMIM156423147608897
HP:0002155HP:0002155Hypertriglyceridemia0XRCC4 CL E G H7518436182ORPHA16812831194363
HP:0002155HP:0002155Hypertriglyceridemia0XRCC4 CL E G H7518436182ORPHA15412831194363
HP:0002155HP:0031028Lactescent serum1ABCA1 CL E G H1931150ORPHA166429600046
HP:0002155HP:0031028Lactescent serum1ABCA1 CL E G H1931150ORPHA157629600046
HP:0002155HP:0031028Lactescent serum1ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002155HP:0031028Lactescent serum1ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002155HP:0031028Lactescent serum1AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA11529321610860
HP:0002155HP:0031028Lactescent serum1AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA11299321610860
HP:0002155HP:0031028Lactescent serum1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0002155HP:0031028Lactescent serum1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0002155HP:0031028Lactescent serum1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0002155HP:0031028Lactescent serum1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0002155HP:0031028Lactescent serum1AKT2 CL E G H20879085ORPHA194392164731
HP:0002155HP:0031028Lactescent serum1AKT2 CL E G H20879085ORPHA177392164731
HP:0002155HP:0031028Lactescent serum1ALMS1 CL E G H784064ORPHA13342428606844
HP:0002155HP:0031028Lactescent serum1ALMS1 CL E G H784064ORPHA12504428606844
HP:0002155HP:0031028Lactescent serum1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002155HP:0031028Lactescent serum1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002155HP:0031028Lactescent serum1APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM159609608083
HP:0002155HP:0031028Lactescent serum1APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM157609608083
HP:0002155HP:0031028Lactescent serum1APOE CL E G H348412ORPHA180613107741
HP:0002155HP:0031028Lactescent serum1APOE CL E G H348412ORPHA178613107741
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580363400ORPHA137315832606158
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580363400ORPHA133015832606158
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0002155HP:0031028Lactescent serum1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0002155HP:0031028Lactescent serum1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0002155HP:0031028Lactescent serum1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0002155HP:0031028Lactescent serum1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0002155HP:0031028Lactescent serum1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0002155HP:0031028Lactescent serum1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0002155HP:0031028Lactescent serum1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0002155HP:0031028Lactescent serum1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0002155HP:0031028Lactescent serum1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002155HP:0031028Lactescent serum1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002155HP:0031028Lactescent serum1CIDEC CL E G H63924435651ORPHA17624229612120
HP:0002155HP:0031028Lactescent serum1CIDEC CL E G H63924435651ORPHA17124229612120
HP:0002155HP:0031028Lactescent serum1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM17624229612120
HP:0002155HP:0031028Lactescent serum1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM17124229612120
HP:0002155HP:0031028Lactescent serum1CYP7A1 CL E G H1581209902ORPHA11002651118455
HP:0002155HP:0031028Lactescent serum1CYP7A1 CL E G H1581209902ORPHA1972651118455
HP:0002155HP:0031028Lactescent serum1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0002155HP:0031028Lactescent serum1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0002155HP:0031028Lactescent serum1EMD CL E G H201098863ORPHA15793331300384
HP:0002155HP:0031028Lactescent serum1EMD CL E G H201098863ORPHA15303331300384
HP:0002155HP:0031028Lactescent serum1FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM12823647612386
HP:0002155HP:0031028Lactescent serum1FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM12543647612386
HP:0002155HP:0031028Lactescent serum1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002155HP:0031028Lactescent serum1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002155HP:0031028Lactescent serum1FLII CL E G H2314819ORPHA11583750600362
HP:0002155HP:0031028Lactescent serum1FLII CL E G H2314819ORPHA11553750600362
HP:0002155HP:0031028Lactescent serum1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0002155HP:0031028Lactescent serum1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0002155HP:0031028Lactescent serum1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0002155HP:0031028Lactescent serum1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1694455138420
HP:0002155HP:0031028Lactescent serum1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1524455138420
HP:0002155HP:0031028Lactescent serum1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA110424945612757
HP:0002155HP:0031028Lactescent serum1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA19524945612757
HP:0002155HP:0031028Lactescent serum1IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0002155HP:0031028Lactescent serum1IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0002155HP:0031028Lactescent serum1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0002155HP:0031028Lactescent serum1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0002155HP:0031028Lactescent serum1LCAT CL E G H3931136120Fish-eye disease136120C0342895OMIM11006522606967
HP:0002155HP:0031028Lactescent serum1LCAT CL E G H3931136120Fish-eye disease136120C0342895OMIM1896522606967
HP:0002155HP:0031028Lactescent serum1LCAT CL E G H3931245900Norum disease245900C0023195OMIM11006522606967
HP:0002155HP:0031028Lactescent serum1LCAT CL E G H3931245900Norum disease245900C0023195OMIM1896522606967
HP:0002155HP:0031028Lactescent serum1LDLRAP1 CL E G H26119603813Hypercholesterolemia, autosomal recessive603813C1863512OMIM127318640605747
HP:0002155HP:0031028Lactescent serum1LDLRAP1 CL E G H26119603813Hypercholesterolemia, autosomal recessive603813C1863512OMIM124818640605747
HP:0002155HP:0031028Lactescent serum1LEP CL E G H395266628ORPHA11136553164160
HP:0002155HP:0031028Lactescent serum1LEP CL E G H395266628ORPHA11126553164160
HP:0002155HP:0031028Lactescent serum1LEPR CL E G H3953179494ORPHA12206554601007
HP:0002155HP:0031028Lactescent serum1LEPR CL E G H3953179494ORPHA12036554601007
HP:0002155HP:0031028Lactescent serum1LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA13726617613497
HP:0002155HP:0031028Lactescent serum1LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA13396617613497
HP:0002155HP:0031028Lactescent serum1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM13726617613497
HP:0002155HP:0031028Lactescent serum1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM13396617613497
HP:0002155HP:0031028Lactescent serum1LIPC CL E G H3990140905ORPHA11626619151670
HP:0002155HP:0031028Lactescent serum1LIPC CL E G H3990140905ORPHA11446619151670
HP:0002155HP:0031028Lactescent serum1LIPE CL E G H3991435660ORPHA1826621151750
HP:0002155HP:0031028Lactescent serum1LIPE CL E G H3991435660ORPHA1786621151750
HP:0002155HP:0031028Lactescent serum1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA122514154611761
HP:0002155HP:0031028Lactescent serum1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA119214154611761
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H40002348ORPHA114866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000363618ORPHA114866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H400079474ORPHA114866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H400098855ORPHA114866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H400098853ORPHA114866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000280365ORPHA114866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H40002348ORPHA113476636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000363618ORPHA113476636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H400079474ORPHA113476636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H400098855ORPHA113476636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H400098853ORPHA113476636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000280365ORPHA113476636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0002155HP:0031028Lactescent serum1NSMCE2 CL E G H286053436182ORPHA17126513617246
HP:0002155HP:0031028Lactescent serum1NSMCE2 CL E G H286053436182ORPHA15826513617246
HP:0002155HP:0031028Lactescent serum1PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14658926300798
HP:0002155HP:0031028Lactescent serum1PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14298926300798
HP:0002155HP:0031028Lactescent serum1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11568931172471
HP:0002155HP:0031028Lactescent serum1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11488931172471
HP:0002155HP:0031028Lactescent serum1PLIN1 CL E G H5346280356ORPHA11029076170290
HP:0002155HP:0031028Lactescent serum1PLIN1 CL E G H5346280356ORPHA1949076170290
HP:0002155HP:0031028Lactescent serum1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0002155HP:0031028Lactescent serum1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0002155HP:0031028Lactescent serum1PLVAP CL E G H83483618183DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE618183OMIM12513635607647
HP:0002155HP:0031028Lactescent serum1PLVAP CL E G H83483618183DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE618183OMIM12413635607647
HP:0002155HP:0031028Lactescent serum1PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002155HP:0031028Lactescent serum1PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002155HP:0031028Lactescent serum1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM131249175174761
HP:0002155HP:0031028Lactescent serum1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM127829175174761
HP:0002155HP:0031028Lactescent serum1PPARG CL E G H546879083ORPHA11249236601487
HP:0002155HP:0031028Lactescent serum1PPARG CL E G H546879083ORPHA11089236601487
HP:0002155HP:0031028Lactescent serum1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0002155HP:0031028Lactescent serum1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0002155HP:0031028Lactescent serum1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
HP:0002155HP:0031028Lactescent serum1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0002155HP:0031028Lactescent serum1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM13549360170280
HP:0002155HP:0031028Lactescent serum1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM12949360170280
HP:0002155HP:0031028Lactescent serum1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0002155HP:0031028Lactescent serum1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0002155HP:0031028Lactescent serum1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0002155HP:0031028Lactescent serum1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0002155HP:0031028Lactescent serum1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0002155HP:0031028Lactescent serum1PYGL CL E G H5836232700Glycogen storage disease, type VI232700C0017925OMIM12429725613741
HP:0002155HP:0031028Lactescent serum1PYGL CL E G H5836232700Glycogen storage disease, type VI232700C0017925OMIM12209725613741
HP:0002155HP:0031028Lactescent serum1RAI1 CL E G H10743819ORPHA18069834607642
HP:0002155HP:0031028Lactescent serum1RAI1 CL E G H10743819ORPHA15159834607642
HP:0002155HP:0031028Lactescent serum1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM18069834607642
HP:0002155HP:0031028Lactescent serum1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM15159834607642
HP:0002155HP:0031028Lactescent serum1RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0002155HP:0031028Lactescent serum1RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0002155HP:0031028Lactescent serum1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM17110817603729
HP:0002155HP:0031028Lactescent serum1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM15510817603729
HP:0002155HP:0031028Lactescent serum1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM145110983603859
HP:0002155HP:0031028Lactescent serum1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM139310983603859
HP:0002155HP:0031028Lactescent serum1SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM145110983603859
HP:0002155HP:0031028Lactescent serum1SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM139310983603859
HP:0002155HP:0031028Lactescent serum1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM165211120607608
HP:0002155HP:0031028Lactescent serum1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM160511120607608
HP:0002155HP:0031028Lactescent serum1STXBP2 CL E G H6813613101Hemophagocytic lymphohistiocytosis, familial, 5613101C2751293OMIM146911445601717
HP:0002155HP:0031028Lactescent serum1STXBP2 CL E G H6813613101Hemophagocytic lymphohistiocytosis, familial, 5613101C2751293OMIM132211445601717
HP:0002155HP:0031028Lactescent serum1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002155HP:0031028Lactescent serum1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002155HP:0031028Lactescent serum1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002155HP:0031028Lactescent serum1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002155HP:0031028Lactescent serum1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002155HP:0031028Lactescent serum1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002155HP:0031028Lactescent serum1TTPA CL E G H7274277460Ataxia with vitamin E deficiency277460C1848533OMIM126212404600415
HP:0002155HP:0031028Lactescent serum1TTPA CL E G H7274277460Ataxia with vitamin E deficiency277460C1848533OMIM121812404600415
HP:0002155HP:0031028Lactescent serum1UNC13D CL E G H201294608898Hemophagocytic lymphohistiocytosis, familial, 3608898C1837174OMIM171023147608897
HP:0002155HP:0031028Lactescent serum1UNC13D CL E G H201294608898Hemophagocytic lymphohistiocytosis, familial, 3608898C1837174OMIM156423147608897
HP:0002155HP:0031028Lactescent serum1XRCC4 CL E G H7518436182ORPHA16812831194363
HP:0002155HP:0031028Lactescent serum1XRCC4 CL E G H7518436182ORPHA15412831194363
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM037315832606158
HP:0002155HP:0002155Hypertriglyceridemia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM033015832606158
HP:0002155HP:0002155Hypertriglyceridemia0CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM017828209615586
HP:0002155HP:0002155Hypertriglyceridemia0CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM014228209615586
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000740Aortic arch interruptionORPHA014866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000740Aortic arch interruptionORPHA013476636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM014866636150330
HP:0002155HP:0002155Hypertriglyceridemia0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM013476636150330
HP:0002155HP:0002155Hypertriglyceridemia0MC4R CL E G H416071529ORPHA01916932155541
HP:0002155HP:0002155Hypertriglyceridemia0MC4R CL E G H416071529ORPHA01846932155541
HP:0002155HP:0002155Hypertriglyceridemia0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM0178964600154
HP:0002155HP:0002155Hypertriglyceridemia0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM0168964600154
HP:0002155HP:0002155Hypertriglyceridemia0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM039130802609059
HP:0002155HP:0002155Hypertriglyceridemia0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM033430802609059
HP:0002155HP:0002155Hypertriglyceridemia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM065430074614258
HP:0002155HP:0002155Hypertriglyceridemia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM048430074614258
HP:0002155HP:0002155Hypertriglyceridemia0SLC29A3 CL E G H55315168569ORPHA031523096612373
HP:0002155HP:0002155Hypertriglyceridemia0SLC29A3 CL E G H55315168569ORPHA024723096612373
HP:0002155HP:0002155Hypertriglyceridemia0STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM025611429605014
HP:0002155HP:0002155Hypertriglyceridemia0STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM022711429605014
HP:0002155HP:0002155Hypertriglyceridemia0XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM0431592300079
HP:0002155HP:0002155Hypertriglyceridemia0XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM0404592300079
HP:0002155HP:0002155Hypertriglyceridemia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA016712877606480
HP:0002155HP:0002155Hypertriglyceridemia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA014912877606480
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM037315832606158
HP:0002155HP:0031028Lactescent serum1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM033015832606158
HP:0002155HP:0031028Lactescent serum1CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM017828209615586
HP:0002155HP:0031028Lactescent serum1CEP19 CL E G H84984615703Morbid obesity and spermatogenic failure615703C3810324OMIM014228209615586
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000740Aortic arch interruptionORPHA014866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000740Aortic arch interruptionORPHA013476636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM014866636150330
HP:0002155HP:0031028Lactescent serum1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM013476636150330
HP:0002155HP:0031028Lactescent serum1MC4R CL E G H416071529ORPHA01916932155541
HP:0002155HP:0031028Lactescent serum1MC4R CL E G H416071529ORPHA01846932155541
HP:0002155HP:0031028Lactescent serum1PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM0178964600154
HP:0002155HP:0031028Lactescent serum1PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM0168964600154
HP:0002155HP:0031028Lactescent serum1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM039130802609059
HP:0002155HP:0031028Lactescent serum1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM033430802609059
HP:0002155HP:0031028Lactescent serum1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM065430074614258
HP:0002155HP:0031028Lactescent serum1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM048430074614258
HP:0002155HP:0031028Lactescent serum1SLC29A3 CL E G H55315168569ORPHA031523096612373
HP:0002155HP:0031028Lactescent serum1SLC29A3 CL E G H55315168569ORPHA024723096612373
HP:0002155HP:0031028Lactescent serum1STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM025611429605014
HP:0002155HP:0031028Lactescent serum1STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM022711429605014
HP:0002155HP:0031028Lactescent serum1XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM0431592300079
HP:0002155HP:0031028Lactescent serum1XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM0404592300079
HP:0002155HP:0031028Lactescent serum1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA016712877606480
HP:0002155HP:0031028Lactescent serum1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA014912877606480


Genes (67) :ABCA1 ABHD5 AGL AGPAT2 AKT2 ALMS1 APOC2 APOE BSCL2 CAV1 CAVIN1 CEP19 CIDEC CYP7A1 DEAF1 EMD FECH FHL1 FLII FOS GK GPD1 GPIHBP1 IQSEC2 JAG1 LCAT LDLRAP1 LEP LEPR LIPA LIPC LIPE LMF1 LMNA LPL MC4R NSMCE2 PHKA2 PHKG2 PIGH PLIN1 PLVAP PNPLA2 POLD1 POLR3A PPARG PRF1 PSMB4 PSMB8 PSMB9 PYGL RAI1 RSPO1 SGPL1 SLC25A13 SLC29A3 SMPD1 STX11 STXBP2 SYNE1 SYNE2 TMEM43 TTPA UNC13D XIAP XRCC4 ZMPSTE24

Diseases (76) :31150 98907 366 528 608594 79085 64 203800 207750 412 363400 269700 615924 612526 606721 613327 615703 435651 615238 209902 819 98863 177000 307030 614480 444490 118450 136120 245900 603813 66628 179494 75234 278000 140905 435660 363618 79474 280365 98855 98853 2348 740 616516 151660 71529 436182 306000 613027 618010 280356 613877 618183 98908 610717 615381 264090 79083 604367 603553 617591 256040 232700 182290 610644 617575 603471 605814 168569 607616 603552 613101 277460 608898 300635 238600
 

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