Human Phenotype Ontology 
Grandparent Node:
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Morphological abnormality of the gastrointestinal tract (HP:0012718)help
Parent Node:
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Abnormal intestine morphology (HP:0002242)help
..Starting node
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Malabsorption (HP:0002024)help
Term ID: 2024
Name: Malabsorption
Synonym: Intestinal malabsorption; Malabsorption
Definition: Impaired ability to absorb one or more nutrients from the intestine.
Comments:
Reference: HP:0002024
Genes and Diseases:
 
       Child Nodes:
........expandFat malabsorption (HP:0002630) help
................... HP:0002570 Steatorrhea
........expandLactose intolerance (HP:0004789) help

 Sister Nodes: 
..expandAbnormal large intestine morphology (HP:0002250) help
..expandAbnormality of enteric nervous system morphology (HP:0025028) help
..expandAbnormality of intestinal smooth muscle morphology (HP:0030935) help
..expandAbnormality of the small intestine (HP:0002244) help
..expandBowel diverticulosis (HP:0005222) help
..expandIntestinal atresia (HP:0011100) help
..expandIntestinal bleeding (HP:0002584) help
..expandIntestinal duplication (HP:0100668) help
..expandIntestinal edema (HP:0005225) help
..expandIntestinal fistula (HP:0100819) help
..expandIntestinal hypoplasia (HP:0005245) help
..expandIntestinal lymphangiectasia (HP:0002593) help
..expandIntestinal lymphoid nodular hyperplasia (HP:0011956) help
..expandIntestinal malrotation (HP:0002566) help
..expandIntestinal obstruction (HP:0005214) help
..expandIntestinal perforation (HP:0031368) help
..expandIntestinal polyp (HP:0005266) help
..expandIntestinal pseudo-obstruction (HP:0004389) help
..expandIntussusception (HP:0002576) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) help
..expandVolvulus (HP:0002580) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002024HP:0002024Malabsorption0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002024HP:0002024Malabsorption0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002024HP:0002024Malabsorption0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0002024HP:0002024Malabsorption0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0002024HP:0002024Malabsorption0AK2 CL E G H20433355ORPHA1133362103020
HP:0002024HP:0002024Malabsorption0AK2 CL E G H20433355ORPHA1161362103020
HP:0002024HP:0002024Malabsorption0AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002024HP:0002024Malabsorption0AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002024HP:0002024Malabsorption0APC CL E G H324873Bethlem myopathyC1834674ORPHA19963583611731
HP:0002024HP:0002024Malabsorption0APC CL E G H324873Bethlem myopathyC1834674ORPHA19051583611731
HP:0002024HP:0002024Malabsorption0ARX CL E G H170302452ORPHA156518060300382
HP:0002024HP:0002024Malabsorption0ARX CL E G H170302452ORPHA162418060300382
HP:0002024HP:0002024Malabsorption0ATP7A CL E G H538565ORPHA11003869300011
HP:0002024HP:0002024Malabsorption0ATP7A CL E G H538565ORPHA1897869300011
HP:0002024HP:0002024Malabsorption0B2M CL E G H567314652ORPHA132914109700
HP:0002024HP:0002024Malabsorption0B2M CL E G H567314652ORPHA139914109700
HP:0002024HP:0002024Malabsorption0CAV1 CL E G H857220393ORPHA1851527601047
HP:0002024HP:0002024Malabsorption0CAV1 CL E G H857220393ORPHA1811527601047
HP:0002024HP:0002024Malabsorption0CBLIF CL E G H2694261000Intrinsic factor deficiency261000C1394891OMIM1824268609342
HP:0002024HP:0002024Malabsorption0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0002024HP:0002024Malabsorption0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0002024HP:0002024Malabsorption0CCN2 CL E G H1490220393ORPHA1242500121009
HP:0002024HP:0002024Malabsorption0CCN2 CL E G H1490220393ORPHA1222500121009
HP:0002024HP:0002024Malabsorption0CCR6 CL E G H1235220393ORPHA1491607601835
HP:0002024HP:0002024Malabsorption0CCR6 CL E G H1235220393ORPHA1481607601835
HP:0002024HP:0002024Malabsorption0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0002024HP:0002024Malabsorption0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0002024HP:0002024Malabsorption0CDCA7 CL E G H838792268ORPHA110314628609937
HP:0002024HP:0002024Malabsorption0CDCA7 CL E G H838792268ORPHA15614628609937
HP:0002024HP:0002024Malabsorption0CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA127131884602421
HP:0002024HP:0002024Malabsorption0CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA128541884602421
HP:0002024HP:0002024Malabsorption0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM18837067600005
HP:0002024HP:0002024Malabsorption0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM17637067600005
HP:0002024HP:0002024Malabsorption0CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1222018616857
HP:0002024HP:0002024Malabsorption0CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1212018616857
HP:0002024HP:0002024Malabsorption0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0002024HP:0002024Malabsorption0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0002024HP:0002024Malabsorption0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA13642514116806
HP:0002024HP:0002024Malabsorption0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA12692514116806
HP:0002024HP:0002024Malabsorption0CYBA CL E G H1535379ORPHA13422577608508
HP:0002024HP:0002024Malabsorption0CYBA CL E G H1535379ORPHA13052577608508
HP:0002024HP:0002024Malabsorption0CYBB CL E G H1536379ORPHA15682578300481
HP:0002024HP:0002024Malabsorption0CYBB CL E G H1536379ORPHA15282578300481
HP:0002024HP:0002024Malabsorption0CYBC1 CL E G H79415379ORPHA157286720
HP:0002024HP:0002024Malabsorption0CYBC1 CL E G H79415379ORPHA156286720
HP:0002024HP:0002024Malabsorption0DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA11615518614758
HP:0002024HP:0002024Malabsorption0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0002024HP:0002024Malabsorption0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0002024HP:0002024Malabsorption0DMP1 CL E G H1758289176ORPHA11252932600980
HP:0002024HP:0002024Malabsorption0DMP1 CL E G H1758289176ORPHA11392932600980
HP:0002024HP:0002024Malabsorption0DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0002024HP:0002024Malabsorption0DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0002024HP:0002024Malabsorption0DNMT3B CL E G H17892268ORPHA13392979602900
HP:0002024HP:0002024Malabsorption0DNMT3B CL E G H17892268ORPHA14022979602900
HP:0002024HP:0002024Malabsorption0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002024HP:0002024Malabsorption0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002024HP:0002024Malabsorption0EFL1 CL E G H79631811Balo diseaseORPHA119625789617538
HP:0002024HP:0002024Malabsorption0EFL1 CL E G H79631811Balo diseaseORPHA18825789617538
HP:0002024HP:0002024Malabsorption0ENPP1 CL E G H5167289176ORPHA13863356173335
HP:0002024HP:0002024Malabsorption0ENPP1 CL E G H5167289176ORPHA13703356173335
HP:0002024HP:0002024Malabsorption0EPCAM CL E G H4072144ORPHA137411529185535
HP:0002024HP:0002024Malabsorption0EPCAM CL E G H4072144ORPHA136011529185535
HP:0002024HP:0002024Malabsorption0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0002024HP:0002024Malabsorption0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0002024HP:0002024Malabsorption0FAN1 CL E G H22909144ORPHA136129170613534
HP:0002024HP:0002024Malabsorption0FAN1 CL E G H22909144ORPHA135129170613534
HP:0002024HP:0002024Malabsorption0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0002024HP:0002024Malabsorption0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0002024HP:0002024Malabsorption0FLNA CL E G H231699811ORPHA121303754300017
HP:0002024HP:0002024Malabsorption0FLNA CL E G H231699811ORPHA118933754300017
HP:0002024HP:0002024Malabsorption0GLA CL E G H2717324Slti Salem syndromeORPHA19484296300644
HP:0002024HP:0002024Malabsorption0GLA CL E G H2717324Slti Salem syndromeORPHA18994296300644
HP:0002024HP:0002024Malabsorption0HBB CL E G H3043231214ORPHA112834827141900
HP:0002024HP:0002024Malabsorption0HBB CL E G H3043231214ORPHA112704827141900
HP:0002024HP:0002024Malabsorption0HELLS CL E G H30702268ORPHA11254861603946
HP:0002024HP:0002024Malabsorption0HELLS CL E G H30702268ORPHA1664861603946
HP:0002024HP:0002024Malabsorption0HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0002024HP:0002024Malabsorption0HSD3B7 CL E G H8027079301ORPHA110218324607764
HP:0002024HP:0002024Malabsorption0HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0002024HP:0002024Malabsorption0HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM120216931601746
HP:0002024HP:0002024Malabsorption0HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM18916931601746
HP:0002024HP:0002024Malabsorption0IRF5 CL E G H3663220393ORPHA1396120607218
HP:0002024HP:0002024Malabsorption0IRF5 CL E G H3663220393ORPHA1406120607218
HP:0002024HP:0002024Malabsorption0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0002024HP:0002024Malabsorption0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0002024HP:0002024Malabsorption0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0002024HP:0002024Malabsorption0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0002024HP:0002024Malabsorption0KRAS CL E G H3845144ORPHA13416407190070
HP:0002024HP:0002024Malabsorption0KRAS CL E G H3845144ORPHA13316407190070
HP:0002024HP:0002024Malabsorption0MLH1 CL E G H4292144ORPHA137637127120436
HP:0002024HP:0002024Malabsorption0MLH1 CL E G H4292144ORPHA135407127120436
HP:0002024HP:0002024Malabsorption0MLH3 CL E G H27030144ORPHA17637128604395
HP:0002024HP:0002024Malabsorption0MLH3 CL E G H27030144ORPHA16347128604395
HP:0002024HP:0002024Malabsorption0MPI CL E G H435179319ORPHA12557216154550
HP:0002024HP:0002024Malabsorption0MPI CL E G H435179319ORPHA12827216154550
HP:0002024HP:0002024Malabsorption0MSH2 CL E G H4436144ORPHA149647325609309
HP:0002024HP:0002024Malabsorption0MSH2 CL E G H4436144ORPHA146077325609309
HP:0002024HP:0002024Malabsorption0MSH6 CL E G H2956144ORPHA157177329600678
HP:0002024HP:0002024Malabsorption0MSH6 CL E G H2956144ORPHA162197329600678
HP:0002024HP:0002024Malabsorption0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0002024HP:0002024Malabsorption0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0002024HP:0002024Malabsorption0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0002024HP:0002024Malabsorption0MTTP CL E G H454714Bilateral squintCN228276ORPHA14427467157147
HP:0002024HP:0002024Malabsorption0MTTP CL E G H454714Bilateral squintCN228276ORPHA15507467157147
HP:0002024HP:0002024Malabsorption0NCF1 CL E G H653361379ORPHA1997660608512
HP:0002024HP:0002024Malabsorption0NCF2 CL E G H4688379ORPHA12777661608515
HP:0002024HP:0002024Malabsorption0NCF2 CL E G H4688379ORPHA13307661608515
HP:0002024HP:0002024Malabsorption0NCF4 CL E G H4689379ORPHA12477662601488
HP:0002024HP:0002024Malabsorption0NCF4 CL E G H4689379ORPHA12037662601488
HP:0002024HP:0002024Malabsorption0NEUROG3 CL E G H5067483620ORPHA16313806604882
HP:0002024HP:0002024Malabsorption0NEUROG3 CL E G H5067483620ORPHA13213806604882
HP:0002024HP:0002024Malabsorption0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0002024HP:0002024Malabsorption0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0002024HP:0002024Malabsorption0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0002024HP:0002024Malabsorption0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0002024HP:0002024Malabsorption0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0002024HP:0002024Malabsorption0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0002024HP:0002024Malabsorption0PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11888743162150
HP:0002024HP:0002024Malabsorption0PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11728743162150
HP:0002024HP:0002024Malabsorption0PEX1 CL E G H5189912ORPHA17938850602136
HP:0002024HP:0002024Malabsorption0PEX1 CL E G H5189912ORPHA19518850602136
HP:0002024HP:0002024Malabsorption0PEX10 CL E G H5192912ORPHA15788851602859
HP:0002024HP:0002024Malabsorption0PEX10 CL E G H5192912ORPHA14808851602859
HP:0002024HP:0002024Malabsorption0PEX11B CL E G H8799912ORPHA12848853603867
HP:0002024HP:0002024Malabsorption0PEX11B CL E G H8799912ORPHA13328853603867
HP:0002024HP:0002024Malabsorption0PEX12 CL E G H5193912ORPHA13208854601758
HP:0002024HP:0002024Malabsorption0PEX12 CL E G H5193912ORPHA12458854601758
HP:0002024HP:0002024Malabsorption0PEX13 CL E G H5194912ORPHA12348855601789
HP:0002024HP:0002024Malabsorption0PEX13 CL E G H5194912ORPHA13428855601789
HP:0002024HP:0002024Malabsorption0PEX14 CL E G H5195912ORPHA13118856601791
HP:0002024HP:0002024Malabsorption0PEX14 CL E G H5195912ORPHA12348856601791
HP:0002024HP:0002024Malabsorption0PEX16 CL E G H9409912ORPHA12038857603360
HP:0002024HP:0002024Malabsorption0PEX16 CL E G H9409912ORPHA12828857603360
HP:0002024HP:0002024Malabsorption0PEX19 CL E G H5824912ORPHA12499713600279
HP:0002024HP:0002024Malabsorption0PEX19 CL E G H5824912ORPHA11819713600279
HP:0002024HP:0002024Malabsorption0PEX2 CL E G H5828912ORPHA12549717170993
HP:0002024HP:0002024Malabsorption0PEX2 CL E G H5828912ORPHA13199717170993
HP:0002024HP:0002024Malabsorption0PEX26 CL E G H55670912ORPHA139222965608666
HP:0002024HP:0002024Malabsorption0PEX26 CL E G H55670912ORPHA131522965608666
HP:0002024HP:0002024Malabsorption0PEX3 CL E G H8504912ORPHA11588858603164
HP:0002024HP:0002024Malabsorption0PEX3 CL E G H8504912ORPHA12198858603164
HP:0002024HP:0002024Malabsorption0PEX5 CL E G H5830912ORPHA15639719600414
HP:0002024HP:0002024Malabsorption0PEX5 CL E G H5830912ORPHA14069719600414
HP:0002024HP:0002024Malabsorption0PEX6 CL E G H5190912ORPHA16458859601498
HP:0002024HP:0002024Malabsorption0PEX6 CL E G H5190912ORPHA18558859601498
HP:0002024HP:0002024Malabsorption0PIK3CA CL E G H5290144ORPHA16138975171834
HP:0002024HP:0002024Malabsorption0PIK3CA CL E G H5290144ORPHA15448975171834
HP:0002024HP:0002024Malabsorption0PMPCA CL E G H232031170ORPHA113418667613036
HP:0002024HP:0002024Malabsorption0PMPCA CL E G H232031170ORPHA112818667613036
HP:0002024HP:0002024Malabsorption0PMS1 CL E G H5378144ORPHA1859121600258
HP:0002024HP:0002024Malabsorption0PMS1 CL E G H5378144ORPHA1929121600258
HP:0002024HP:0002024Malabsorption0PMS2 CL E G H5395144ORPHA134219122600259
HP:0002024HP:0002024Malabsorption0PMS2 CL E G H5395144ORPHA131549122600259
HP:0002024HP:0002024Malabsorption0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM114709179174763
HP:0002024HP:0002024Malabsorption0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM117129179174763
HP:0002024HP:0002024Malabsorption0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0002024HP:0002024Malabsorption0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0002024HP:0002024Malabsorption0RECQL4 CL E G H94011225ORPHA127519949603780
HP:0002024HP:0002024Malabsorption0RECQL4 CL E G H94011225ORPHA132749949603780
HP:0002024HP:0002024Malabsorption0RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM12519986601863
HP:0002024HP:0002024Malabsorption0RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM11939986601863
HP:0002024HP:0002024Malabsorption0RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM113721478612659
HP:0002024HP:0002024Malabsorption0RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM116121478612659
HP:0002024HP:0002024Malabsorption0RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM11669987603200
HP:0002024HP:0002024Malabsorption0RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM11349987603200
HP:0002024HP:0002024Malabsorption0RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM11759988601861
HP:0002024HP:0002024Malabsorption0RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM11589988601861
HP:0002024HP:0002024Malabsorption0RMRP CL E G H6023175ORPHA160910031157660
HP:0002024HP:0002024Malabsorption0RMRP CL E G H6023175ORPHA149810031157660
HP:0002024HP:0002024Malabsorption0RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM160910031157660
HP:0002024HP:0002024Malabsorption0RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM149810031157660
HP:0002024HP:0002024Malabsorption0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1133915888608833
HP:0002024HP:0002024Malabsorption0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160515888608833
HP:0002024HP:0002024Malabsorption0SAA1 CL E G H628885445ORPHA12710513104750
HP:0002024HP:0002024Malabsorption0SBDS CL E G H51119811Balo diseaseORPHA18919440607444
HP:0002024HP:0002024Malabsorption0SBDS CL E G H51119811Balo diseaseORPHA18219440607444
HP:0002024HP:0002024Malabsorption0SI CL E G H6476222900Sucrase-isomaltase deficiency222900C1283620OMIM151210856609845
HP:0002024HP:0002024Malabsorption0SI CL E G H6476222900Sucrase-isomaltase deficiency222900C1283620OMIM126110856609845
HP:0002024HP:0002024Malabsorption0SLC2A2 CL E G H6514227810Fanconi-Bickel syndrome227810C3495427OMIM120211006138160
HP:0002024HP:0002024Malabsorption0SLC2A2 CL E G H6514227810Fanconi-Bickel syndrome227810C3495427OMIM118211006138160
HP:0002024HP:0002024Malabsorption0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0002024HP:0002024Malabsorption0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0002024HP:0002024Malabsorption0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM123730521611672
HP:0002024HP:0002024Malabsorption0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM117330521611672
HP:0002024HP:0002024Malabsorption0SLC5A1 CL E G H6523606824Congenital glucose-galactose malabsorption606824C0268186OMIM116711036182380
HP:0002024HP:0002024Malabsorption0SLC5A1 CL E G H6523606824Congenital glucose-galactose malabsorption606824C0268186OMIM123011036182380
HP:0002024HP:0002024Malabsorption0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA132027960608893
HP:0002024HP:0002024Malabsorption0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA125427960608893
HP:0002024HP:0002024Malabsorption0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA172815464605010
HP:0002024HP:0002024Malabsorption0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA163015464605010
HP:0002024HP:0002024Malabsorption0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA132016974611421
HP:0002024HP:0002024Malabsorption0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA146516974611421
HP:0002024HP:0002024Malabsorption0SRP54 CL E G H6729811Balo diseaseORPHA19711301604857
HP:0002024HP:0002024Malabsorption0SRP54 CL E G H6729811Balo diseaseORPHA17111301604857
HP:0002024HP:0002024Malabsorption0STX1A CL E G H6804586Al Gazali Khidr Prem Chandran syndromeORPHA115911433186590
HP:0002024HP:0002024Malabsorption0STX1A CL E G H6804586Al Gazali Khidr Prem Chandran syndromeORPHA115811433186590
HP:0002024HP:0002024Malabsorption0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129111727602322
HP:0002024HP:0002024Malabsorption0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA122711727602322
HP:0002024HP:0002024Malabsorption0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160611730187270
HP:0002024HP:0002024Malabsorption0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1188711730187270
HP:0002024HP:0002024Malabsorption0TGFB1 CL E G H7040586Al Gazali Khidr Prem Chandran syndromeORPHA112811766190180
HP:0002024HP:0002024Malabsorption0TGFB1 CL E G H7040586Al Gazali Khidr Prem Chandran syndromeORPHA17411766190180
HP:0002024HP:0002024Malabsorption0TGFBR2 CL E G H7048144ORPHA169411773190182
HP:0002024HP:0002024Malabsorption0TGFBR2 CL E G H7048144ORPHA175011773190182
HP:0002024HP:0002024Malabsorption0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA128811824604319
HP:0002024HP:0002024Malabsorption0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA123011824604319
HP:0002024HP:0002024Malabsorption0TNXB CL E G H7148285Impossible syndromeORPHA175211976600985
HP:0002024HP:0002024Malabsorption0TNXB CL E G H7148285Impossible syndromeORPHA173911976600985
HP:0002024HP:0002024Malabsorption0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM17523141611023
HP:0002024HP:0002024Malabsorption0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM15123141611023
HP:0002024HP:0002024Malabsorption0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM16653148131222
HP:0002024HP:0002024Malabsorption0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM15503148131222
HP:0002024HP:0002024Malabsorption0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA118716808605981
HP:0002024HP:0002024Malabsorption0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA114816808605981
HP:0002024HP:0002024Malabsorption0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM118716808605981
HP:0002024HP:0002024Malabsorption0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM114816808605981
HP:0002024HP:0002024Malabsorption0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111825792613276
HP:0002024HP:0002024Malabsorption0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118125792613276
HP:0002024HP:0002024Malabsorption0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129725522612661
HP:0002024HP:0002024Malabsorption0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118525522612661
HP:0002024HP:0002024Malabsorption0ZBTB24 CL E G H98412268ORPHA117421143614064
HP:0002024HP:0002024Malabsorption0ZBTB24 CL E G H98412268ORPHA121221143614064
HP:0002024HP:0041049Starch intolerance1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002024HP:0002630Fat malabsorption1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002024HP:0004789Lactose intolerance1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002024HP:0002630Fat malabsorption1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002024HP:0004789Lactose intolerance1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002024HP:0041049Starch intolerance1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002024HP:0002630Fat malabsorption1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0002024HP:0004789Lactose intolerance1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0002024HP:0041049Starch intolerance1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0002024HP:0041049Starch intolerance1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0002024HP:0002630Fat malabsorption1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0002024HP:0004789Lactose intolerance1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0002024HP:0002630Fat malabsorption1AK2 CL E G H20433355ORPHA1133362103020
HP:0002024HP:0004789Lactose intolerance1AK2 CL E G H20433355ORPHA1133362103020
HP:0002024HP:0041049Starch intolerance1AK2 CL E G H20433355ORPHA1161362103020
HP:0002024HP:0041049Starch intolerance1AK2 CL E G H20433355ORPHA1133362103020
HP:0002024HP:0002630Fat malabsorption1AK2 CL E G H20433355ORPHA1161362103020
HP:0002024HP:0004789Lactose intolerance1AK2 CL E G H20433355ORPHA1161362103020
HP:0002024HP:0041049Starch intolerance1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002024HP:0004789Lactose intolerance1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002024HP:0002630Fat malabsorption1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002024HP:0002630Fat malabsorption1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002024HP:0004789Lactose intolerance1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002024HP:0041049Starch intolerance1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002024HP:0002630Fat malabsorption1APC CL E G H324873Bethlem myopathyC1834674ORPHA19963583611731
HP:0002024HP:0004789Lactose intolerance1APC CL E G H324873Bethlem myopathyC1834674ORPHA19963583611731
HP:0002024HP:0002630Fat malabsorption1APC CL E G H324873Bethlem myopathyC1834674ORPHA19051583611731
HP:0002024HP:0004789Lactose intolerance1APC CL E G H324873Bethlem myopathyC1834674ORPHA19051583611731
HP:0002024HP:0041049Starch intolerance1APC CL E G H324873Bethlem myopathyC1834674ORPHA19963583611731
HP:0002024HP:0041049Starch intolerance1APC CL E G H324873Bethlem myopathyC1834674ORPHA19051583611731
HP:0002024HP:0004789Lactose intolerance1ARX CL E G H170302452ORPHA156518060300382
HP:0002024HP:0002630Fat malabsorption1ARX CL E G H170302452ORPHA156518060300382
HP:0002024HP:0041049Starch intolerance1ARX CL E G H170302452ORPHA162418060300382
HP:0002024HP:0041049Starch intolerance1ARX CL E G H170302452ORPHA156518060300382
HP:0002024HP:0004789Lactose intolerance1ARX CL E G H170302452ORPHA162418060300382
HP:0002024HP:0002630Fat malabsorption1ARX CL E G H170302452ORPHA162418060300382
HP:0002024HP:0041049Starch intolerance1ATP7A CL E G H538565ORPHA1897869300011
HP:0002024HP:0004789Lactose intolerance1ATP7A CL E G H538565ORPHA11003869300011
HP:0002024HP:0002630Fat malabsorption1ATP7A CL E G H538565ORPHA11003869300011
HP:0002024HP:0002630Fat malabsorption1ATP7A CL E G H538565ORPHA1897869300011
HP:0002024HP:0004789Lactose intolerance1ATP7A CL E G H538565ORPHA1897869300011
HP:0002024HP:0041049Starch intolerance1ATP7A CL E G H538565ORPHA11003869300011
HP:0002024HP:0004789Lactose intolerance1B2M CL E G H567314652ORPHA132914109700
HP:0002024HP:0002630Fat malabsorption1B2M CL E G H567314652ORPHA132914109700
HP:0002024HP:0041049Starch intolerance1B2M CL E G H567314652ORPHA139914109700
HP:0002024HP:0041049Starch intolerance1B2M CL E G H567314652ORPHA132914109700
HP:0002024HP:0004789Lactose intolerance1B2M CL E G H567314652ORPHA139914109700
HP:0002024HP:0002630Fat malabsorption1B2M CL E G H567314652ORPHA139914109700
HP:0002024HP:0041049Starch intolerance1CAV1 CL E G H857220393ORPHA1851527601047
HP:0002024HP:0041049Starch intolerance1CAV1 CL E G H857220393ORPHA1811527601047
HP:0002024HP:0004789Lactose intolerance1CAV1 CL E G H857220393ORPHA1851527601047
HP:0002024HP:0002630Fat malabsorption1CAV1 CL E G H857220393ORPHA1851527601047
HP:0002024HP:0004789Lactose intolerance1CAV1 CL E G H857220393ORPHA1811527601047
HP:0002024HP:0002630Fat malabsorption1CAV1 CL E G H857220393ORPHA1811527601047
HP:0002024HP:0041049Starch intolerance1CBLIF CL E G H2694261000Intrinsic factor deficiency261000C1394891OMIM1824268609342
HP:0002024HP:0004789Lactose intolerance1CBLIF CL E G H2694261000Intrinsic factor deficiency261000C1394891OMIM1824268609342
HP:0002024HP:0002630Fat malabsorption1CBLIF CL E G H2694261000Intrinsic factor deficiency261000C1394891OMIM1824268609342
HP:0002024HP:0041049Starch intolerance1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0002024HP:0004789Lactose intolerance1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0002024HP:0002630Fat malabsorption1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0002024HP:0004789Lactose intolerance1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0002024HP:0002630Fat malabsorption1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0002024HP:0041049Starch intolerance1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0002024HP:0002630Fat malabsorption1CCN2 CL E G H1490220393ORPHA1242500121009
HP:0002024HP:0004789Lactose intolerance1CCN2 CL E G H1490220393ORPHA1242500121009
HP:0002024HP:0002630Fat malabsorption1CCN2 CL E G H1490220393ORPHA1222500121009
HP:0002024HP:0004789Lactose intolerance1CCN2 CL E G H1490220393ORPHA1222500121009
HP:0002024HP:0041049Starch intolerance1CCN2 CL E G H1490220393ORPHA1242500121009
HP:0002024HP:0041049Starch intolerance1CCN2 CL E G H1490220393ORPHA1222500121009
HP:0002024HP:0041049Starch intolerance1CCR6 CL E G H1235220393ORPHA1491607601835
HP:0002024HP:0041049Starch intolerance1CCR6 CL E G H1235220393ORPHA1481607601835
HP:0002024HP:0004789Lactose intolerance1CCR6 CL E G H1235220393ORPHA1491607601835
HP:0002024HP:0002630Fat malabsorption1CCR6 CL E G H1235220393ORPHA1491607601835
HP:0002024HP:0004789Lactose intolerance1CCR6 CL E G H1235220393ORPHA1481607601835
HP:0002024HP:0002630Fat malabsorption1CCR6 CL E G H1235220393ORPHA1481607601835
HP:0002024HP:0041049Starch intolerance1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0002024HP:0041049Starch intolerance1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0002024HP:0004789Lactose intolerance1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0002024HP:0002630Fat malabsorption1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1982665125240
HP:0002024HP:0002630Fat malabsorption1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0002024HP:0004789Lactose intolerance1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM1492665125240
HP:0002024HP:0041049Starch intolerance1CDCA7 CL E G H838792268ORPHA15614628609937
HP:0002024HP:0002630Fat malabsorption1CDCA7 CL E G H838792268ORPHA110314628609937
HP:0002024HP:0004789Lactose intolerance1CDCA7 CL E G H838792268ORPHA110314628609937
HP:0002024HP:0004789Lactose intolerance1CDCA7 CL E G H838792268ORPHA15614628609937
HP:0002024HP:0002630Fat malabsorption1CDCA7 CL E G H838792268ORPHA15614628609937
HP:0002024HP:0041049Starch intolerance1CDCA7 CL E G H838792268ORPHA110314628609937
HP:0002024HP:0002630Fat malabsorption1CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA127131884602421
HP:0002024HP:0004789Lactose intolerance1CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA127131884602421
HP:0002024HP:0041049Starch intolerance1CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA128541884602421
HP:0002024HP:0041049Starch intolerance1CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA127131884602421
HP:0002024HP:0002630Fat malabsorption1CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA128541884602421
HP:0002024HP:0004789Lactose intolerance1CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA128541884602421
HP:0002024HP:0002630Fat malabsorption1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM18837067600005
HP:0002024HP:0004789Lactose intolerance1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM18837067600005
HP:0002024HP:0002630Fat malabsorption1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM17637067600005
HP:0002024HP:0004789Lactose intolerance1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM17637067600005
HP:0002024HP:0041049Starch intolerance1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM18837067600005
HP:0002024HP:0041049Starch intolerance1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM17637067600005
HP:0002024HP:0041049Starch intolerance1CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1212018616857
HP:0002024HP:0004789Lactose intolerance1CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1222018616857
HP:0002024HP:0002630Fat malabsorption1CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1222018616857
HP:0002024HP:0004789Lactose intolerance1CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1212018616857
HP:0002024HP:0002630Fat malabsorption1CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1212018616857
HP:0002024HP:0041049Starch intolerance1CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA1222018616857
HP:0002024HP:0041049Starch intolerance1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0002024HP:0002630Fat malabsorption1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0002024HP:0004789Lactose intolerance1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0002024HP:0002630Fat malabsorption1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0002024HP:0004789Lactose intolerance1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0002024HP:0041049Starch intolerance1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0002024HP:0041049Starch intolerance1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA13642514116806
HP:0002024HP:0041049Starch intolerance1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA12692514116806
HP:0002024HP:0004789Lactose intolerance1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA13642514116806
HP:0002024HP:0002630Fat malabsorption1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA13642514116806
HP:0002024HP:0004789Lactose intolerance1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA12692514116806
HP:0002024HP:0002630Fat malabsorption1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA12692514116806
HP:0002024HP:0041049Starch intolerance1CYBA CL E G H1535379ORPHA13422577608508
HP:0002024HP:0041049Starch intolerance1CYBA CL E G H1535379ORPHA13052577608508
HP:0002024HP:0002630Fat malabsorption1CYBA CL E G H1535379ORPHA13422577608508
HP:0002024HP:0004789Lactose intolerance1CYBA CL E G H1535379ORPHA13422577608508
HP:0002024HP:0004789Lactose intolerance1CYBA CL E G H1535379ORPHA13052577608508
HP:0002024HP:0002630Fat malabsorption1CYBA CL E G H1535379ORPHA13052577608508
HP:0002024HP:0002630Fat malabsorption1CYBB CL E G H1536379ORPHA15682578300481
HP:0002024HP:0004789Lactose intolerance1CYBB CL E G H1536379ORPHA15682578300481
HP:0002024HP:0002630Fat malabsorption1CYBB CL E G H1536379ORPHA15282578300481
HP:0002024HP:0004789Lactose intolerance1CYBB CL E G H1536379ORPHA15282578300481
HP:0002024HP:0041049Starch intolerance1CYBB CL E G H1536379ORPHA15682578300481
HP:0002024HP:0041049Starch intolerance1CYBB CL E G H1536379ORPHA15282578300481
HP:0002024HP:0041049Starch intolerance1CYBC1 CL E G H79415379ORPHA157286720
HP:0002024HP:0041049Starch intolerance1CYBC1 CL E G H79415379ORPHA156286720
HP:0002024HP:0002630Fat malabsorption1CYBC1 CL E G H79415379ORPHA157286720
HP:0002024HP:0004789Lactose intolerance1CYBC1 CL E G H79415379ORPHA157286720
HP:0002024HP:0002630Fat malabsorption1CYBC1 CL E G H79415379ORPHA156286720
HP:0002024HP:0004789Lactose intolerance1CYBC1 CL E G H79415379ORPHA156286720
HP:0002024HP:0002630Fat malabsorption1DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA11615518614758
HP:0002024HP:0041049Starch intolerance1DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA11615518614758
HP:0002024HP:0004789Lactose intolerance1DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA11615518614758
HP:0002024HP:0004789Lactose intolerance1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0002024HP:0002630Fat malabsorption1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0002024HP:0041049Starch intolerance1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0002024HP:0041049Starch intolerance1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0002024HP:0004789Lactose intolerance1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0002024HP:0002630Fat malabsorption1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0002024HP:0002630Fat malabsorption1DMP1 CL E G H1758289176ORPHA11252932600980
HP:0002024HP:0004789Lactose intolerance1DMP1 CL E G H1758289176ORPHA11252932600980
HP:0002024HP:0041049Starch intolerance1DMP1 CL E G H1758289176ORPHA11392932600980
HP:0002024HP:0041049Starch intolerance1DMP1 CL E G H1758289176ORPHA11252932600980
HP:0002024HP:0004789Lactose intolerance1DMP1 CL E G H1758289176ORPHA11392932600980
HP:0002024HP:0002630Fat malabsorption1DMP1 CL E G H1758289176ORPHA11392932600980
HP:0002024HP:0002630Fat malabsorption1DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0002024HP:0004789Lactose intolerance1DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0002024HP:0002630Fat malabsorption1DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0002024HP:0004789Lactose intolerance1DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0002024HP:0041049Starch intolerance1DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0002024HP:0041049Starch intolerance1DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0002024HP:0002630Fat malabsorption1DNMT3B CL E G H17892268ORPHA13392979602900
HP:0002024HP:0004789Lactose intolerance1DNMT3B CL E G H17892268ORPHA13392979602900
HP:0002024HP:0041049Starch intolerance1DNMT3B CL E G H17892268ORPHA14022979602900
HP:0002024HP:0041049Starch intolerance1DNMT3B CL E G H17892268ORPHA13392979602900
HP:0002024HP:0002630Fat malabsorption1DNMT3B CL E G H17892268ORPHA14022979602900
HP:0002024HP:0004789Lactose intolerance1DNMT3B CL E G H17892268ORPHA14022979602900
HP:0002024HP:0002630Fat malabsorption1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002024HP:0004789Lactose intolerance1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002024HP:0002630Fat malabsorption1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002024HP:0004789Lactose intolerance1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002024HP:0041049Starch intolerance1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002024HP:0041049Starch intolerance1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002024HP:0041049Starch intolerance1EFL1 CL E G H79631811Balo diseaseORPHA119625789617538
HP:0002024HP:0041049Starch intolerance1EFL1 CL E G H79631811Balo diseaseORPHA18825789617538
HP:0002024HP:0004789Lactose intolerance1EFL1 CL E G H79631811Balo diseaseORPHA119625789617538
HP:0002024HP:0002630Fat malabsorption1EFL1 CL E G H79631811Balo diseaseORPHA119625789617538
HP:0002024HP:0002630Fat malabsorption1EFL1 CL E G H79631811Balo diseaseORPHA18825789617538
HP:0002024HP:0004789Lactose intolerance1EFL1 CL E G H79631811Balo diseaseORPHA18825789617538
HP:0002024HP:0041049Starch intolerance1ENPP1 CL E G H5167289176ORPHA13703356173335
HP:0002024HP:0002630Fat malabsorption1ENPP1 CL E G H5167289176ORPHA13863356173335
HP:0002024HP:0004789Lactose intolerance1ENPP1 CL E G H5167289176ORPHA13863356173335
HP:0002024HP:0002630Fat malabsorption1ENPP1 CL E G H5167289176ORPHA13703356173335
HP:0002024HP:0004789Lactose intolerance1ENPP1 CL E G H5167289176ORPHA13703356173335
HP:0002024HP:0041049Starch intolerance1ENPP1 CL E G H5167289176ORPHA13863356173335
HP:0002024HP:0041049Starch intolerance1EPCAM CL E G H4072144ORPHA137411529185535
HP:0002024HP:0041049Starch intolerance1EPCAM CL E G H4072144ORPHA136011529185535
HP:0002024HP:0002630Fat malabsorption1EPCAM CL E G H4072144ORPHA137411529185535
HP:0002024HP:0004789Lactose intolerance1EPCAM CL E G H4072144ORPHA137411529185535
HP:0002024HP:0002630Fat malabsorption1EPCAM CL E G H4072144ORPHA136011529185535
HP:0002024HP:0004789Lactose intolerance1EPCAM CL E G H4072144ORPHA136011529185535
HP:0002024HP:0004789Lactose intolerance1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0002024HP:0002630Fat malabsorption1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0002024HP:0041049Starch intolerance1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0002024HP:0041049Starch intolerance1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0002024HP:0004789Lactose intolerance1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0002024HP:0002630Fat malabsorption1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0002024HP:0002630Fat malabsorption1FAN1 CL E G H22909144ORPHA136129170613534
HP:0002024HP:0004789Lactose intolerance1FAN1 CL E G H22909144ORPHA136129170613534
HP:0002024HP:0002630Fat malabsorption1FAN1 CL E G H22909144ORPHA135129170613534
HP:0002024HP:0004789Lactose intolerance1FAN1 CL E G H22909144ORPHA135129170613534
HP:0002024HP:0041049Starch intolerance1FAN1 CL E G H22909144ORPHA136129170613534
HP:0002024HP:0041049Starch intolerance1FAN1 CL E G H22909144ORPHA135129170613534
HP:0002024HP:0002630Fat malabsorption1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0002024HP:0004789Lactose intolerance1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0002024HP:0041049Starch intolerance1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0002024HP:0041049Starch intolerance1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0002024HP:0002630Fat malabsorption1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0002024HP:0004789Lactose intolerance1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0002024HP:0041049Starch intolerance1FLNA CL E G H231699811ORPHA121303754300017
HP:0002024HP:0041049Starch intolerance1FLNA CL E G H231699811ORPHA118933754300017
HP:0002024HP:0002630Fat malabsorption1FLNA CL E G H231699811ORPHA121303754300017
HP:0002024HP:0004789Lactose intolerance1FLNA CL E G H231699811ORPHA121303754300017
HP:0002024HP:0002630Fat malabsorption1FLNA CL E G H231699811ORPHA118933754300017
HP:0002024HP:0004789Lactose intolerance1FLNA CL E G H231699811ORPHA118933754300017
HP:0002024HP:0041049Starch intolerance1GLA CL E G H2717324Slti Salem syndromeORPHA19484296300644
HP:0002024HP:0041049Starch intolerance1GLA CL E G H2717324Slti Salem syndromeORPHA18994296300644
HP:0002024HP:0004789Lactose intolerance1GLA CL E G H2717324Slti Salem syndromeORPHA19484296300644
HP:0002024HP:0002630Fat malabsorption1GLA CL E G H2717324Slti Salem syndromeORPHA19484296300644
HP:0002024HP:0004789Lactose intolerance1GLA CL E G H2717324Slti Salem syndromeORPHA18994296300644
HP:0002024HP:0002630Fat malabsorption1GLA CL E G H2717324Slti Salem syndromeORPHA18994296300644
HP:0002024HP:0041049Starch intolerance1HBB CL E G H3043231214ORPHA112704827141900
HP:0002024HP:0002630Fat malabsorption1HBB CL E G H3043231214ORPHA112834827141900
HP:0002024HP:0004789Lactose intolerance1HBB CL E G H3043231214ORPHA112834827141900
HP:0002024HP:0002630Fat malabsorption1HBB CL E G H3043231214ORPHA112704827141900
HP:0002024HP:0004789Lactose intolerance1HBB CL E G H3043231214ORPHA112704827141900
HP:0002024HP:0041049Starch intolerance1HBB CL E G H3043231214ORPHA112834827141900
HP:0002024HP:0041049Starch intolerance1HELLS CL E G H30702268ORPHA1664861603946
HP:0002024HP:0002630Fat malabsorption1HELLS CL E G H30702268ORPHA11254861603946
HP:0002024HP:0004789Lactose intolerance1HELLS CL E G H30702268ORPHA11254861603946
HP:0002024HP:0002630Fat malabsorption1HELLS CL E G H30702268ORPHA1664861603946
HP:0002024HP:0004789Lactose intolerance1HELLS CL E G H30702268ORPHA1664861603946
HP:0002024HP:0041049Starch intolerance1HELLS CL E G H30702268ORPHA11254861603946
HP:0002024HP:0002630Fat malabsorption1HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0002024HP:0041049Starch intolerance1HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0002024HP:0004789Lactose intolerance1HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0002024HP:0002630Fat malabsorption1HSD3B7 CL E G H8027079301ORPHA110218324607764
HP:0002024HP:0004789Lactose intolerance1HSD3B7 CL E G H8027079301ORPHA110218324607764
HP:0002024HP:0041049Starch intolerance1HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0002024HP:0041049Starch intolerance1HSD3B7 CL E G H8027079301ORPHA110218324607764
HP:0002024HP:0002630Fat malabsorption1HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0002024HP:0004789Lactose intolerance1HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0002024HP:0002630Fat malabsorption1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM120216931601746
HP:0002024HP:0004789Lactose intolerance1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM120216931601746
HP:0002024HP:0002630Fat malabsorption1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM18916931601746
HP:0002024HP:0004789Lactose intolerance1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM18916931601746
HP:0002024HP:0041049Starch intolerance1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM120216931601746
HP:0002024HP:0041049Starch intolerance1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM18916931601746
HP:0002024HP:0002630Fat malabsorption1IRF5 CL E G H3663220393ORPHA1396120607218
HP:0002024HP:0004789Lactose intolerance1IRF5 CL E G H3663220393ORPHA1396120607218
HP:0002024HP:0041049Starch intolerance1IRF5 CL E G H3663220393ORPHA1406120607218
HP:0002024HP:0041049Starch intolerance1IRF5 CL E G H3663220393ORPHA1396120607218
HP:0002024HP:0002630Fat malabsorption1IRF5 CL E G H3663220393ORPHA1406120607218
HP:0002024HP:0004789Lactose intolerance1IRF5 CL E G H3663220393ORPHA1406120607218
HP:0002024HP:0002630Fat malabsorption1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0002024HP:0004789Lactose intolerance1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0002024HP:0004789Lactose intolerance1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0002024HP:0002630Fat malabsorption1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0002024HP:0041049Starch intolerance1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0002024HP:0041049Starch intolerance1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0002024HP:0041049Starch intolerance1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0002024HP:0041049Starch intolerance1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0002024HP:0002630Fat malabsorption1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0002024HP:0004789Lactose intolerance1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0002024HP:0002630Fat malabsorption1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0002024HP:0004789Lactose intolerance1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0002024HP:0041049Starch intolerance1KRAS CL E G H3845144ORPHA13416407190070
HP:0002024HP:0041049Starch intolerance1KRAS CL E G H3845144ORPHA13316407190070
HP:0002024HP:0002630Fat malabsorption1KRAS CL E G H3845144ORPHA13416407190070
HP:0002024HP:0004789Lactose intolerance1KRAS CL E G H3845144ORPHA13416407190070
HP:0002024HP:0002630Fat malabsorption1KRAS CL E G H3845144ORPHA13316407190070
HP:0002024HP:0004789Lactose intolerance1KRAS CL E G H3845144ORPHA13316407190070
HP:0002024HP:0002630Fat malabsorption1MLH1 CL E G H4292144ORPHA137637127120436
HP:0002024HP:0004789Lactose intolerance1MLH1 CL E G H4292144ORPHA137637127120436
HP:0002024HP:0002630Fat malabsorption1MLH1 CL E G H4292144ORPHA135407127120436
HP:0002024HP:0004789Lactose intolerance1MLH1 CL E G H4292144ORPHA135407127120436
HP:0002024HP:0041049Starch intolerance1MLH1 CL E G H4292144ORPHA137637127120436
HP:0002024HP:0041049Starch intolerance1MLH1 CL E G H4292144ORPHA135407127120436
HP:0002024HP:0041049Starch intolerance1MLH3 CL E G H27030144ORPHA17637128604395
HP:0002024HP:0041049Starch intolerance1MLH3 CL E G H27030144ORPHA16347128604395
HP:0002024HP:0002630Fat malabsorption1MLH3 CL E G H27030144ORPHA17637128604395
HP:0002024HP:0004789Lactose intolerance1MLH3 CL E G H27030144ORPHA17637128604395
HP:0002024HP:0002630Fat malabsorption1MLH3 CL E G H27030144ORPHA16347128604395
HP:0002024HP:0004789Lactose intolerance1MLH3 CL E G H27030144ORPHA16347128604395
HP:0002024HP:0002630Fat malabsorption1MPI CL E G H435179319ORPHA12557216154550
HP:0002024HP:0004789Lactose intolerance1MPI CL E G H435179319ORPHA12557216154550
HP:0002024HP:0041049Starch intolerance1MPI CL E G H435179319ORPHA12827216154550
HP:0002024HP:0041049Starch intolerance1MPI CL E G H435179319ORPHA12557216154550
HP:0002024HP:0002630Fat malabsorption1MPI CL E G H435179319ORPHA12827216154550
HP:0002024HP:0004789Lactose intolerance1MPI CL E G H435179319ORPHA12827216154550
HP:0002024HP:0002630Fat malabsorption1MSH2 CL E G H4436144ORPHA149647325609309
HP:0002024HP:0004789Lactose intolerance1MSH2 CL E G H4436144ORPHA149647325609309
HP:0002024HP:0002630Fat malabsorption1MSH2 CL E G H4436144ORPHA146077325609309
HP:0002024HP:0004789Lactose intolerance1MSH2 CL E G H4436144ORPHA146077325609309
HP:0002024HP:0041049Starch intolerance1MSH2 CL E G H4436144ORPHA149647325609309
HP:0002024HP:0041049Starch intolerance1MSH2 CL E G H4436144ORPHA146077325609309
HP:0002024HP:0004789Lactose intolerance1MSH6 CL E G H2956144ORPHA157177329600678
HP:0002024HP:0041049Starch intolerance1MSH6 CL E G H2956144ORPHA162197329600678
HP:0002024HP:0041049Starch intolerance1MSH6 CL E G H2956144ORPHA157177329600678
HP:0002024HP:0002630Fat malabsorption1MSH6 CL E G H2956144ORPHA162197329600678
HP:0002024HP:0004789Lactose intolerance1MSH6 CL E G H2956144ORPHA162197329600678
HP:0002024HP:0002630Fat malabsorption1MSH6 CL E G H2956144ORPHA157177329600678
HP:0002024HP:0002630Fat malabsorption1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0002024HP:0041049Starch intolerance1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0002024HP:0004789Lactose intolerance1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0002024HP:0041049Starch intolerance1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0002024HP:0004789Lactose intolerance1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0002024HP:0002630Fat malabsorption1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0002024HP:0004789Lactose intolerance1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0002024HP:0002630Fat malabsorption1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0002024HP:0041049Starch intolerance1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0002024HP:0002630Fat malabsorption1MTTP CL E G H454714Bilateral squintCN228276ORPHA14427467157147
HP:0002024HP:0004789Lactose intolerance1MTTP CL E G H454714Bilateral squintCN228276ORPHA14427467157147
HP:0002024HP:0041049Starch intolerance1MTTP CL E G H454714Bilateral squintCN228276ORPHA15507467157147
HP:0002024HP:0041049Starch intolerance1MTTP CL E G H454714Bilateral squintCN228276ORPHA14427467157147
HP:0002024HP:0002630Fat malabsorption1MTTP CL E G H454714Bilateral squintCN228276ORPHA15507467157147
HP:0002024HP:0004789Lactose intolerance1MTTP CL E G H454714Bilateral squintCN228276ORPHA15507467157147
HP:0002024HP:0002630Fat malabsorption1NCF1 CL E G H653361379ORPHA1997660608512
HP:0002024HP:0041049Starch intolerance1NCF1 CL E G H653361379ORPHA1997660608512
HP:0002024HP:0004789Lactose intolerance1NCF1 CL E G H653361379ORPHA1997660608512
HP:0002024HP:0004789Lactose intolerance1NCF2 CL E G H4688379ORPHA12777661608515
HP:0002024HP:0002630Fat malabsorption1NCF2 CL E G H4688379ORPHA12777661608515
HP:0002024HP:0041049Starch intolerance1NCF2 CL E G H4688379ORPHA13307661608515
HP:0002024HP:0041049Starch intolerance1NCF2 CL E G H4688379ORPHA12777661608515
HP:0002024HP:0004789Lactose intolerance1NCF2 CL E G H4688379ORPHA13307661608515
HP:0002024HP:0002630Fat malabsorption1NCF2 CL E G H4688379ORPHA13307661608515
HP:0002024HP:0041049Starch intolerance1NCF4 CL E G H4689379ORPHA12037662601488
HP:0002024HP:0002630Fat malabsorption1NCF4 CL E G H4689379ORPHA12477662601488
HP:0002024HP:0004789Lactose intolerance1NCF4 CL E G H4689379ORPHA12477662601488
HP:0002024HP:0002630Fat malabsorption1NCF4 CL E G H4689379ORPHA12037662601488
HP:0002024HP:0004789Lactose intolerance1NCF4 CL E G H4689379ORPHA12037662601488
HP:0002024HP:0041049Starch intolerance1NCF4 CL E G H4689379ORPHA12477662601488
HP:0002024HP:0041049Starch intolerance1NEUROG3 CL E G H5067483620ORPHA13213806604882
HP:0002024HP:0004789Lactose intolerance1NEUROG3 CL E G H5067483620ORPHA16313806604882
HP:0002024HP:0002630Fat malabsorption1NEUROG3 CL E G H5067483620ORPHA16313806604882
HP:0002024HP:0004789Lactose intolerance1NEUROG3 CL E G H5067483620ORPHA13213806604882
HP:0002024HP:0002630Fat malabsorption1NEUROG3 CL E G H5067483620ORPHA13213806604882
HP:0002024HP:0041049Starch intolerance1NEUROG3 CL E G H5067483620ORPHA16313806604882
HP:0002024HP:0041049Starch intolerance1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0002024HP:0002630Fat malabsorption1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0002024HP:0004789Lactose intolerance1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0002024HP:0002630Fat malabsorption1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0002024HP:0004789Lactose intolerance1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0002024HP:0041049Starch intolerance1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0002024HP:0004789Lactose intolerance1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0002024HP:0002630Fat malabsorption1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0002024HP:0041049Starch intolerance1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0002024HP:0041049Starch intolerance1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0002024HP:0002630Fat malabsorption1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0002024HP:0004789Lactose intolerance1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0002024HP:0041049Starch intolerance1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0002024HP:0002630Fat malabsorption1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0002024HP:0004789Lactose intolerance1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0002024HP:0002630Fat malabsorption1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0002024HP:0004789Lactose intolerance1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0002024HP:0041049Starch intolerance1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0002024HP:0041049Starch intolerance1PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11728743162150
HP:0002024HP:0002630Fat malabsorption1PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11888743162150
HP:0002024HP:0004789Lactose intolerance1PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11888743162150
HP:0002024HP:0002630Fat malabsorption1PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11728743162150
HP:0002024HP:0004789Lactose intolerance1PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11728743162150
HP:0002024HP:0041049Starch intolerance1PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM11888743162150
HP:0002024HP:0002630Fat malabsorption1PEX1 CL E G H5189912ORPHA17938850602136
HP:0002024HP:0004789Lactose intolerance1PEX1 CL E G H5189912ORPHA17938850602136
HP:0002024HP:0041049Starch intolerance1PEX1 CL E G H5189912ORPHA19518850602136
HP:0002024HP:0041049Starch intolerance1PEX1 CL E G H5189912ORPHA17938850602136
HP:0002024HP:0002630Fat malabsorption1PEX1 CL E G H5189912ORPHA19518850602136
HP:0002024HP:0004789Lactose intolerance1PEX1 CL E G H5189912ORPHA19518850602136
HP:0002024HP:0041049Starch intolerance1PEX10 CL E G H5192912ORPHA14808851602859
HP:0002024HP:0004789Lactose intolerance1PEX10 CL E G H5192912ORPHA15788851602859
HP:0002024HP:0002630Fat malabsorption1PEX10 CL E G H5192912ORPHA15788851602859
HP:0002024HP:0004789Lactose intolerance1PEX10 CL E G H5192912ORPHA14808851602859
HP:0002024HP:0002630Fat malabsorption1PEX10 CL E G H5192912ORPHA14808851602859
HP:0002024HP:0041049Starch intolerance1PEX10 CL E G H5192912ORPHA15788851602859
HP:0002024HP:0002630Fat malabsorption1PEX11B CL E G H8799912ORPHA12848853603867
HP:0002024HP:0004789Lactose intolerance1PEX11B CL E G H8799912ORPHA12848853603867
HP:0002024HP:0041049Starch intolerance1PEX11B CL E G H8799912ORPHA13328853603867
HP:0002024HP:0041049Starch intolerance1PEX11B CL E G H8799912ORPHA12848853603867
HP:0002024HP:0002630Fat malabsorption1PEX11B CL E G H8799912ORPHA13328853603867
HP:0002024HP:0004789Lactose intolerance1PEX11B CL E G H8799912ORPHA13328853603867
HP:0002024HP:0041049Starch intolerance1PEX12 CL E G H5193912ORPHA12458854601758
HP:0002024HP:0004789Lactose intolerance1PEX12 CL E G H5193912ORPHA13208854601758
HP:0002024HP:0002630Fat malabsorption1PEX12 CL E G H5193912ORPHA13208854601758
HP:0002024HP:0004789Lactose intolerance1PEX12 CL E G H5193912ORPHA12458854601758
HP:0002024HP:0002630Fat malabsorption1PEX12 CL E G H5193912ORPHA12458854601758
HP:0002024HP:0041049Starch intolerance1PEX12 CL E G H5193912ORPHA13208854601758
HP:0002024HP:0002630Fat malabsorption1PEX13 CL E G H5194912ORPHA12348855601789
HP:0002024HP:0004789Lactose intolerance1PEX13 CL E G H5194912ORPHA12348855601789
HP:0002024HP:0041049Starch intolerance1PEX13 CL E G H5194912ORPHA13428855601789
HP:0002024HP:0041049Starch intolerance1PEX13 CL E G H5194912ORPHA12348855601789
HP:0002024HP:0002630Fat malabsorption1PEX13 CL E G H5194912ORPHA13428855601789
HP:0002024HP:0004789Lactose intolerance1PEX13 CL E G H5194912ORPHA13428855601789
HP:0002024HP:0041049Starch intolerance1PEX14 CL E G H5195912ORPHA12348856601791
HP:0002024HP:0002630Fat malabsorption1PEX14 CL E G H5195912ORPHA13118856601791
HP:0002024HP:0004789Lactose intolerance1PEX14 CL E G H5195912ORPHA13118856601791
HP:0002024HP:0004789Lactose intolerance1PEX14 CL E G H5195912ORPHA12348856601791
HP:0002024HP:0002630Fat malabsorption1PEX14 CL E G H5195912ORPHA12348856601791
HP:0002024HP:0041049Starch intolerance1PEX14 CL E G H5195912ORPHA13118856601791
HP:0002024HP:0002630Fat malabsorption1PEX16 CL E G H9409912ORPHA12038857603360
HP:0002024HP:0004789Lactose intolerance1PEX16 CL E G H9409912ORPHA12038857603360
HP:0002024HP:0041049Starch intolerance1PEX16 CL E G H9409912ORPHA12828857603360
HP:0002024HP:0041049Starch intolerance1PEX16 CL E G H9409912ORPHA12038857603360
HP:0002024HP:0002630Fat malabsorption1PEX16 CL E G H9409912ORPHA12828857603360
HP:0002024HP:0004789Lactose intolerance1PEX16 CL E G H9409912ORPHA12828857603360
HP:0002024HP:0041049Starch intolerance1PEX19 CL E G H5824912ORPHA11819713600279
HP:0002024HP:0002630Fat malabsorption1PEX19 CL E G H5824912ORPHA12499713600279
HP:0002024HP:0004789Lactose intolerance1PEX19 CL E G H5824912ORPHA12499713600279
HP:0002024HP:0002630Fat malabsorption1PEX19 CL E G H5824912ORPHA11819713600279
HP:0002024HP:0004789Lactose intolerance1PEX19 CL E G H5824912ORPHA11819713600279
HP:0002024HP:0041049Starch intolerance1PEX19 CL E G H5824912ORPHA12499713600279
HP:0002024HP:0002630Fat malabsorption1PEX2 CL E G H5828912ORPHA12549717170993
HP:0002024HP:0004789Lactose intolerance1PEX2 CL E G H5828912ORPHA12549717170993
HP:0002024HP:0041049Starch intolerance1PEX2 CL E G H5828912ORPHA13199717170993
HP:0002024HP:0041049Starch intolerance1PEX2 CL E G H5828912ORPHA12549717170993
HP:0002024HP:0002630Fat malabsorption1PEX2 CL E G H5828912ORPHA13199717170993
HP:0002024HP:0004789Lactose intolerance1PEX2 CL E G H5828912ORPHA13199717170993
HP:0002024HP:0041049Starch intolerance1PEX26 CL E G H55670912ORPHA131522965608666
HP:0002024HP:0002630Fat malabsorption1PEX26 CL E G H55670912ORPHA139222965608666
HP:0002024HP:0004789Lactose intolerance1PEX26 CL E G H55670912ORPHA139222965608666
HP:0002024HP:0002630Fat malabsorption1PEX26 CL E G H55670912ORPHA131522965608666
HP:0002024HP:0004789Lactose intolerance1PEX26 CL E G H55670912ORPHA131522965608666
HP:0002024HP:0041049Starch intolerance1PEX26 CL E G H55670912ORPHA139222965608666
HP:0002024HP:0002630Fat malabsorption1PEX3 CL E G H8504912ORPHA11588858603164
HP:0002024HP:0004789Lactose intolerance1PEX3 CL E G H8504912ORPHA11588858603164
HP:0002024HP:0041049Starch intolerance1PEX3 CL E G H8504912ORPHA12198858603164
HP:0002024HP:0041049Starch intolerance1PEX3 CL E G H8504912ORPHA11588858603164
HP:0002024HP:0002630Fat malabsorption1PEX3 CL E G H8504912ORPHA12198858603164
HP:0002024HP:0004789Lactose intolerance1PEX3 CL E G H8504912ORPHA12198858603164
HP:0002024HP:0041049Starch intolerance1PEX5 CL E G H5830912ORPHA14069719600414
HP:0002024HP:0002630Fat malabsorption1PEX5 CL E G H5830912ORPHA15639719600414
HP:0002024HP:0004789Lactose intolerance1PEX5 CL E G H5830912ORPHA15639719600414
HP:0002024HP:0002630Fat malabsorption1PEX5 CL E G H5830912ORPHA14069719600414
HP:0002024HP:0004789Lactose intolerance1PEX5 CL E G H5830912ORPHA14069719600414
HP:0002024HP:0041049Starch intolerance1PEX5 CL E G H5830912ORPHA15639719600414
HP:0002024HP:0002630Fat malabsorption1PEX6 CL E G H5190912ORPHA16458859601498
HP:0002024HP:0004789Lactose intolerance1PEX6 CL E G H5190912ORPHA16458859601498
HP:0002024HP:0041049Starch intolerance1PEX6 CL E G H5190912ORPHA18558859601498
HP:0002024HP:0041049Starch intolerance1PEX6 CL E G H5190912ORPHA16458859601498
HP:0002024HP:0004789Lactose intolerance1PEX6 CL E G H5190912ORPHA18558859601498
HP:0002024HP:0002630Fat malabsorption1PEX6 CL E G H5190912ORPHA18558859601498
HP:0002024HP:0041049Starch intolerance1PIK3CA CL E G H5290144ORPHA15448975171834
HP:0002024HP:0004789Lactose intolerance1PIK3CA CL E G H5290144ORPHA16138975171834
HP:0002024HP:0002630Fat malabsorption1PIK3CA CL E G H5290144ORPHA16138975171834
HP:0002024HP:0004789Lactose intolerance1PIK3CA CL E G H5290144ORPHA15448975171834
HP:0002024HP:0002630Fat malabsorption1PIK3CA CL E G H5290144ORPHA15448975171834
HP:0002024HP:0041049Starch intolerance1PIK3CA CL E G H5290144ORPHA16138975171834
HP:0002024HP:0041049Starch intolerance1PMPCA CL E G H232031170ORPHA112818667613036
HP:0002024HP:0002630Fat malabsorption1PMPCA CL E G H232031170ORPHA113418667613036
HP:0002024HP:0004789Lactose intolerance1PMPCA CL E G H232031170ORPHA113418667613036
HP:0002024HP:0002630Fat malabsorption1PMPCA CL E G H232031170ORPHA112818667613036
HP:0002024HP:0004789Lactose intolerance1PMPCA CL E G H232031170ORPHA112818667613036
HP:0002024HP:0041049Starch intolerance1PMPCA CL E G H232031170ORPHA113418667613036
HP:0002024HP:0002630Fat malabsorption1PMS1 CL E G H5378144ORPHA1859121600258
HP:0002024HP:0004789Lactose intolerance1PMS1 CL E G H5378144ORPHA1859121600258
HP:0002024HP:0041049Starch intolerance1PMS1 CL E G H5378144ORPHA1929121600258
HP:0002024HP:0041049Starch intolerance1PMS1 CL E G H5378144ORPHA1859121600258
HP:0002024HP:0002630Fat malabsorption1PMS1 CL E G H5378144ORPHA1929121600258
HP:0002024HP:0004789Lactose intolerance1PMS1 CL E G H5378144ORPHA1929121600258
HP:0002024HP:0041049Starch intolerance1PMS2 CL E G H5395144ORPHA131549122600259
HP:0002024HP:0004789Lactose intolerance1PMS2 CL E G H5395144ORPHA134219122600259
HP:0002024HP:0002630Fat malabsorption1PMS2 CL E G H5395144ORPHA134219122600259
HP:0002024HP:0004789Lactose intolerance1PMS2 CL E G H5395144ORPHA131549122600259
HP:0002024HP:0002630Fat malabsorption1PMS2 CL E G H5395144ORPHA131549122600259
HP:0002024HP:0041049Starch intolerance1PMS2 CL E G H5395144ORPHA134219122600259
HP:0002024HP:0004789Lactose intolerance1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM114709179174763
HP:0002024HP:0002630Fat malabsorption1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM114709179174763
HP:0002024HP:0041049Starch intolerance1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM117129179174763
HP:0002024HP:0041049Starch intolerance1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM114709179174763
HP:0002024HP:0004789Lactose intolerance1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM117129179174763
HP:0002024HP:0002630Fat malabsorption1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM117129179174763
HP:0002024HP:0041049Starch intolerance1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0002024HP:0002630Fat malabsorption1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0002024HP:0004789Lactose intolerance1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0002024HP:0002630Fat malabsorption1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0002024HP:0004789Lactose intolerance1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0002024HP:0041049Starch intolerance1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0002024HP:0004789Lactose intolerance1RECQL4 CL E G H94011225ORPHA127519949603780
HP:0002024HP:0002630Fat malabsorption1RECQL4 CL E G H94011225ORPHA127519949603780
HP:0002024HP:0041049Starch intolerance1RECQL4 CL E G H94011225ORPHA132749949603780
HP:0002024HP:0041049Starch intolerance1RECQL4 CL E G H94011225ORPHA127519949603780
HP:0002024HP:0004789Lactose intolerance1RECQL4 CL E G H94011225ORPHA132749949603780
HP:0002024HP:0002630Fat malabsorption1RECQL4 CL E G H94011225ORPHA132749949603780
HP:0002024HP:0041049Starch intolerance1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM12519986601863
HP:0002024HP:0041049Starch intolerance1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM11939986601863
HP:0002024HP:0002630Fat malabsorption1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM12519986601863
HP:0002024HP:0004789Lactose intolerance1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM12519986601863
HP:0002024HP:0002630Fat malabsorption1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM11939986601863
HP:0002024HP:0004789Lactose intolerance1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM11939986601863
HP:0002024HP:0002630Fat malabsorption1RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM113721478612659
HP:0002024HP:0004789Lactose intolerance1RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM113721478612659
HP:0002024HP:0041049Starch intolerance1RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM116121478612659
HP:0002024HP:0041049Starch intolerance1RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM113721478612659
HP: