Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of digestive system physiology (HP:0025032)help
Parent Node:
expand
Abdominal symptom (HP:0011458)help
..Starting node
..expand
Abdominal distention (HP:0003270)help
Term ID: 3270
Name: Abdominal distention
Synonym: Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen
Definition: Distention of the abdomen.
Comments:
Reference: HP:0003270
Genes and Diseases:
 
       Child Nodes:
........expandProtuberant abdomen (HP:0001538) help

 Sister Nodes: 
..expandAbdominal pain (HP:0002027) help
..expandAbnormal bowel sounds (HP:0030142) help
..expandAnorexia (HP:0002039) help
..expandConstipation (HP:0002019) help
..expandDiarrhea (HP:0002014) help
..expandFeeding difficulties (HP:0011968) help
..expandMalnutrition (HP:0004395) help
..expandNausea and vomiting (HP:0002017) help
..expandPoor appetite (HP:0004396) help
..expandProtein avoidance (HP:0002038) help
..expandScaphoid abdomen (HP:0025063) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003270HP:0003270Abdominal distention0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040282 - Frequent23
HP:0003270HP:0003270Abdominal distention0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent23
HP:0003270HP:0003270Abdominal distention0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 123
HP:0003270HP:0003270Abdominal distention0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0003270HP:0003270Abdominal distention0ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0003270HP:0003270Abdominal distention0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0003270HP:0003270Abdominal distention0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare150
HP:0003270HP:0003270Abdominal distention0ANO1 CL E G H5510721625OMIM:620045
HP:0003270HP:0003270Abdominal distention0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0003270HP:0003270Abdominal distention0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0003270HP:0003270Abdominal distention0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional253
HP:0003270HP:0003270Abdominal distention0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0003270HP:0003270Abdominal distention0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0003270HP:0003270Abdominal distention0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0003270HP:0003270Abdominal distention0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0003270HP:0003270Abdominal distention0BRCA1 CL E G H6721100ORPHA:168829Primary peritoneal carcinomaHP:0040281 - Very frequent5769
HP:0003270HP:0003270Abdominal distention0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003270HP:0003270Abdominal distention0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0003270HP:0003270Abdominal distention0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome7
HP:0003270HP:0003270Abdominal distention0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0003270HP:0003270Abdominal distention0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2222
HP:0003270HP:0003270Abdominal distention0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II.284
HP:0003270HP:0003270Abdominal distention0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0003270HP:0003270Abdominal distention0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0003270HP:0003270Abdominal distention0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0003270HP:0003270Abdominal distention0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0003270HP:0003270Abdominal distention0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:0003270HP:0003270Abdominal distention0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0003270HP:0003270Abdominal distention0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0003270HP:0003270Abdominal distention0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0003270HP:0003270Abdominal distention0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003270HP:0003270Abdominal distention0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003270HP:0003270Abdominal distention0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0003270HP:0003270Abdominal distention0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0003270HP:0003270Abdominal distention0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0003270HP:0003270Abdominal distention0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0003270HP:0003270Abdominal distention0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare51
HP:0003270HP:0003270Abdominal distention0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040282 - Frequent170
HP:0003270HP:0003270Abdominal distention0EPHB4 CL E G H20503395OMIM:617300Lymphatic malformation 7.3
HP:0003270HP:0003270Abdominal distention0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040281 - Very frequent
HP:0003270HP:0003270Abdominal distention0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0003270HP:0003270Abdominal distention0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0003270HP:0003270Abdominal distention0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0003270HP:0003270Abdominal distention0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.493
HP:0003270HP:0003270Abdominal distention0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0003270HP:0003270Abdominal distention0FOCAD CL E G H5491423377OMIM:6199913
HP:0003270HP:0003270Abdominal distention0FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040281 - Very frequent9
HP:0003270HP:0003270Abdominal distention0FREM2 CL E G H34164025396OMIM:617666Fraser syndrome 2.263
HP:0003270HP:0003270Abdominal distention0FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndromeHP:0040281 - Very frequent50
HP:0003270HP:0003270Abdominal distention0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0003270HP:0003270Abdominal distention0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II
HP:0003270HP:0003270Abdominal distention0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0003270HP:0003270Abdominal distention0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0003270HP:0003270Abdominal distention0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0003270HP:0003270Abdominal distention0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0003270HP:0003270Abdominal distention0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0003270HP:0003270Abdominal distention0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0003270HP:0003270Abdominal distention0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003270HP:0003270Abdominal distention0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0003270HP:0003270Abdominal distention0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0003270HP:0003270Abdominal distention0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0003270HP:0003270Abdominal distention0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional46
HP:0003270HP:0003270Abdominal distention0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0003270HP:0003270Abdominal distention0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0003270HP:0003270Abdominal distention0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0003270HP:0003270Abdominal distention0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0003270HP:0003270Abdominal distention0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional4
HP:0003270HP:0003270Abdominal distention0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040281 - Very frequent79
HP:0003270HP:0003270Abdominal distention0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040282 - Frequent124
HP:0003270HP:0003270Abdominal distention0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040281 - Very frequent124
HP:0003270HP:0003270Abdominal distention0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0003270HP:0003270Abdominal distention0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0003270HP:0003270Abdominal distention0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0003270HP:0003270Abdominal distention0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003270HP:0003270Abdominal distention0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003270HP:0003270Abdominal distention0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0003270HP:0003270Abdominal distention0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003270HP:0003270Abdominal distention0LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040281 - Very frequent73
HP:0003270HP:0003270Abdominal distention0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent
HP:0003270HP:0003270Abdominal distention0LMOD1 CL E G H258026647OMIM:619362MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0003270HP:0003270Abdominal distention0LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver diseaseHP:0040281 - Very frequent125
HP:0003270HP:0003270Abdominal distention0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003270HP:0003270Abdominal distention0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003270HP:0003270Abdominal distention0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003270HP:0003270Abdominal distention0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0MNX1 CL E G H31104979OMIM:176450Currarino syndrome.17
HP:0003270HP:0003270Abdominal distention0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0003270HP:0003270Abdominal distention0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0003270HP:0003270Abdominal distention0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent418
HP:0003270HP:0003270Abdominal distention0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0003270HP:0003270Abdominal distention0MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0003270HP:0003270Abdominal distention0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent326
HP:0003270HP:0003270Abdominal distention0MYO5B CL E G H46457603ORPHA:2290Microvillus inclusion diseaseHP:0040282 - Frequent192
HP:0003270HP:0003270Abdominal distention0NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040281 - Very frequent51
HP:0003270HP:0003270Abdominal distention0NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040281 - Very frequent90
HP:0003270HP:0003270Abdominal distention0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent90
HP:0003270HP:0003270Abdominal distention0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0003270HP:0003270Abdominal distention0NPHS1 CL E G H48687908OMIM:256300Nephrotic syndrome, type 1.241
HP:0003270HP:0003270Abdominal distention0PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040281 - Very frequent63
HP:0003270HP:0003270Abdominal distention0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0003270HP:0003270Abdominal distention0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent63
HP:0003270HP:0003270Abdominal distention0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent63
HP:0003270HP:0003270Abdominal distention0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040282 - Frequent
HP:0003270HP:0003270Abdominal distention0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040282 - Frequent11
HP:0003270HP:0003270Abdominal distention0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040282 - Frequent759
HP:0003270HP:0003270Abdominal distention0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0003270HP:0003270Abdominal distention0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0003270HP:0003270Abdominal distention0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0003270HP:0003270Abdominal distention0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver diseaseHP:0040281 - Very frequent63
HP:0003270HP:0003270Abdominal distention0PRKCSH CL E G H55899411OMIM:174050Polycystic liver disease 1 with or without kidney cysts.63
HP:0003270HP:0003270Abdominal distention0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0003270HP:0003270Abdominal distention0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0003270HP:0003270Abdominal distention0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional81
HP:0003270HP:0003270Abdominal distention0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 227
HP:0003270HP:0003270Abdominal distention0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003270HP:0003270Abdominal distention0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasia58
HP:0003270HP:0003270Abdominal distention0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040283 - Occasional71
HP:0003270HP:0003270Abdominal distention0RET CL E G H59799967OMIM:142623Hirschsprung disease, susceptibility to, 1.572
HP:0003270HP:0003270Abdominal distention0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0003270HP:0003270Abdominal distention0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003270HP:0003270Abdominal distention0SAR1B CL E G H5112810535ORPHA:71Chylomicron retention diseaseHP:0040282 - Frequent8
HP:0003270HP:0003270Abdominal distention0SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver diseaseHP:0040281 - Very frequent137
HP:0003270HP:0003270Abdominal distention0SI CL E G H647610856ORPHA:35122Congenital sucrase-isomaltase deficiencyHP:0040283 - Occasional98
HP:0003270HP:0003270Abdominal distention0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0003270HP:0003270Abdominal distention0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0003270HP:0003270Abdominal distention0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0003270HP:0003270Abdominal distention0SLC26A3 CL E G H18113018OMIM:214700Diarrhea 1, secretory chloride, congenital.89
HP:0003270HP:0003270Abdominal distention0SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040281 - Very frequent274
HP:0003270HP:0003270Abdominal distention0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent274
HP:0003270HP:0003270Abdominal distention0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040282 - Frequent71
HP:0003270HP:0003270Abdominal distention0SLC2A2 CL E G H651411006OMIM:227810Fanconi-Bickel syndrome.71
HP:0003270HP:0003270Abdominal distention0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0003270HP:0003270Abdominal distention0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0003270HP:0003270Abdominal distention0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0003270HP:0003270Abdominal distention0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare109
HP:0003270HP:0003270Abdominal distention0SLC5A1 CL E G H652311036ORPHA:35710Glucose-galactose malabsorptionHP:0040282 - Frequent74
HP:0003270HP:0003270Abdominal distention0SLC5A1 CL E G H652311036OMIM:606824Glucose/galactose malabsorption.74
HP:0003270HP:0003270Abdominal distention0SLC9A3 CL E G H655011073OMIM:616868Diarrhea 8, secretory sodium, congenital7
HP:0003270HP:0003270Abdominal distention0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0003270HP:0003270Abdominal distention0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0003270HP:0003270Abdominal distention0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0003270HP:0003270Abdominal distention0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.6
HP:0003270HP:0003270Abdominal distention0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare228
HP:0003270HP:0003270Abdominal distention0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare156
HP:0003270HP:0003270Abdominal distention0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional2
HP:0003270HP:0003270Abdominal distention0STX3 CL E G H680911438OMIM:619445DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR121
HP:0003270HP:0003270Abdominal distention0STX3 CL E G H680911438ORPHA:2290Microvillus inclusion diseaseHP:0040282 - Frequent1
HP:0003270HP:0003270Abdominal distention0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0003270HP:0003270Abdominal distention0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003270HP:0003270Abdominal distention0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional71
HP:0003270HP:0003270Abdominal distention0TREH CL E G H1118112266ORPHA:103909Trehalase deficiency2
HP:0003270HP:0003270Abdominal distention0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0003270HP:0003270Abdominal distention0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0003270HP:0003270Abdominal distention0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0003270HP:0003270Abdominal distention0TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040281 - Very frequent97
HP:0003270HP:0003270Abdominal distention0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent97
HP:0003270HP:0003270Abdominal distention0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003270HP:0003270Abdominal distention0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040282 - Frequent26
HP:0003270HP:0003270Abdominal distention0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0003270HP:0003270Abdominal distention0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0003270HP:0003270Abdominal distention0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:0003270HP:0003270Abdominal distention0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent136
HP:0003270HP:0003270Abdominal distention0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040281 - Very frequent177
HP:0003270HP:0003270Abdominal distention0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0003270HP:0001538Protuberant abdomen1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0003270HP:0001538Protuberant abdomen1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0003270HP:0001538Protuberant abdomen1COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0003270HP:0001538Protuberant abdomen1COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0003270HP:0001538Protuberant abdomen1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0003270HP:0001538Protuberant abdomen1COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0003270HP:0001538Protuberant abdomen1CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional41
HP:0003270HP:0001538Protuberant abdomen1CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0003270HP:0001538Protuberant abdomen1CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional5
HP:0003270HP:0001538Protuberant abdomen1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003270HP:0001538Protuberant abdomen1DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003270HP:0001538Protuberant abdomen1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0003270HP:0001538Protuberant abdomen1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0003270HP:0001538Protuberant abdomen1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0003270HP:0001538Protuberant abdomen1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0003270HP:0001538Protuberant abdomen1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0003270HP:0001538Protuberant abdomen1GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0003270HP:0001538Protuberant abdomen1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0003270HP:0001538Protuberant abdomen1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0003270HP:0001538Protuberant abdomen1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0003270HP:0001538Protuberant abdomen1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003270HP:0001538Protuberant abdomen1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0003270HP:0001538Protuberant abdomen1IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0003270HP:0001538Protuberant abdomen1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0003270HP:0001538Protuberant abdomen1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0003270HP:0001538Protuberant abdomen1KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0003270HP:0001538Protuberant abdomen1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003270HP:0001538Protuberant abdomen1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003270HP:0001538Protuberant abdomen1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003270HP:0001538Protuberant abdomen1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003270HP:0001538Protuberant abdomen1MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003270HP:0001538Protuberant abdomen1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0003270HP:0001538Protuberant abdomen1NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0003270HP:0001538Protuberant abdomen1PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 227
HP:0003270HP:0001538Protuberant abdomen1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003270HP:0001538Protuberant abdomen1PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0003270HP:0001538Protuberant abdomen1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0003270HP:0001538Protuberant abdomen1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0003270HP:0001538Protuberant abdomen1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0003270HP:0001538Protuberant abdomen1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040281 - Very frequent110
HP:0003270HP:0001538Protuberant abdomen1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0003270HP:0001538Protuberant abdomen1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0003270HP:0001538Protuberant abdomen1SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0003270HP:0001538Protuberant abdomen1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0003270HP:0001538Protuberant abdomen1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0003270HP:0001538Protuberant abdomen1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104


Genes (137) :ACTG2 ALAD ALDOB ALG8 ANK1 ANO1 ARSA ATP1A2 ATP1A3 ATP7B BMPER BRCA1 C2ORF69 CACNA1A CLMP COL11A1 COL11A2 COL2A1 CYP27B1 CYP2R1 DDRGK1 DHCR7 DLK1 DLL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 EPB42 EPCAM EPHB4 EWSR1 FBN1 FGFR3 FLI1 FLNA FLNB FOCAD FOXE1 FREM2 FSHR G6PC1 GBA1 GNE GNPTAB HLA-DQA1 HLA-DQB1 HMBS IDUA IFT122 IFT52 IFT80 IL12A IL12RB1 INPPL1 INSR IPO8 IRAK1 IRF5 ITGA6 ITGB4 KAT6A KIAA0753 KRT18 LBR LIG3 LIPA LMOD1 LRP5 LYSET MEG3 MESP2 MMEL1 MNX1 MPV17 MTOR MYH11 MYL9 MYLK MYO5B NKX2-1 NKX2-5 NKX3-2 NPHS1 PAX8 PERCC1 PI4KA PLEC POLG POLG2 POU2AF1 PRKCSH PSAP PSAT1 PSMB8 PTH1R PYGL RET RRM2B RTL1 SAR1B SEC63 SI SLC1A3 SLC26A2 SLC26A3 SLC26A4 SLC2A2 SLC35D1 SLC37A4 SLC4A1 SLC5A1 SLC9A3 SMARCAL1 SMPD1 SPIB SPINT2 SPP1 SPTA1 SPTB STAT4 STX3 TCTN2 TNFSF15 TNPO3 TREH TRIP11 TRMU TSHR TTC26 TTC7A TXNDC15 TYMP VDR WDR35 WT1 ZEB2

Diseases (120) :ORPHA:2604 ORPHA:2241 OMIM:155310 ORPHA:100924 ORPHA:469 OMIM:608104 ORPHA:822 OMIM:620045 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:2131 OMIM:277900 OMIM:608022 ORPHA:168829 OMIM:619423 OMIM:615237 OMIM:228520 OMIM:614524 OMIM:200610 ORPHA:85166 OMIM:151210 OMIM:184250 ORPHA:289157 OMIM:264700 ORPHA:93352 OMIM:602557 OMIM:270400 ORPHA:96334 OMIM:277300 ORPHA:239 ORPHA:93271 ORPHA:92050 OMIM:617300 ORPHA:83469 OMIM:608328 OMIM:187600 ORPHA:370348 OMIM:300048 OMIM:108720 OMIM:619991 ORPHA:95713 OMIM:617666 ORPHA:64739 OMIM:232200 OMIM:230900 OMIM:269921 OMIM:252500 ORPHA:576 OMIM:212750 ORPHA:79276 OMIM:607014 OMIM:218330 OMIM:617102 ORPHA:186 OMIM:258480 OMIM:246200 ORPHA:508 OMIM:619472 ORPHA:93552 ORPHA:79403 ORPHA:158684 OMIM:616268 OMIM:619479 OMIM:215600 OMIM:215140 OMIM:618019 ORPHA:298 OMIM:278000 ORPHA:75233 OMIM:619362 ORPHA:2924 OMIM:619345 OMIM:176450 OMIM:256810 ORPHA:457485 OMIM:619351 OMIM:619365 ORPHA:2290 ORPHA:95712 OMIM:613330 OMIM:256300 OMIM:218700 ORPHA:95720 ORPHA:436252 OMIM:613662 OMIM:618528 OMIM:174050 OMIM:616038 OMIM:256040 ORPHA:50945 ORPHA:369 OMIM:142623 ORPHA:71 ORPHA:35122 OMIM:600972 ORPHA:56304 OMIM:214700 ORPHA:2088 OMIM:227810 OMIM:269250 ORPHA:79259 OMIM:232220 ORPHA:35710 OMIM:606824 OMIM:616868 OMIM:242900 ORPHA:1830 OMIM:257200 OMIM:270420 OMIM:619445 OMIM:613885 ORPHA:103909 ORPHA:93299 OMIM:200600 OMIM:613070 OMIM:619534 OMIM:619879 OMIM:277440 OMIM:235730
 

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