Human Phenotype Ontology 
Grandparent Node:
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Abnormality of digestive system physiology (HP:0025032)help
Parent Node:
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Abdominal symptom (HP:0011458)help
..Starting node
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Constipation (HP:0002019)help
Term ID: 2019
Name: Constipation
Synonym: Constipation; Costiveness; Dyschezia
Definition: Infrequent or difficult evacuation of feces.
Comments:
Reference: HP:0002019
Genes and Diseases:
 
       Child Nodes:
........expandChronic constipation (HP:0012450) help
........expandAcute constipation (HP:0012451) help

 Sister Nodes: 
..expandAbdominal distention (HP:0003270) help
..expandAbdominal pain (HP:0002027) help
..expandAbnormal bowel sounds (HP:0030142) help
..expandAnorexia (HP:0002039) 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002019HP:0002019Constipation0ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0002019HP:0002019Constipation0ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0002019HP:0002019Constipation0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM163145102545
HP:0002019HP:0002019Constipation0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM167145102545
HP:0002019HP:0002019Constipation0ALAD CL E G H210100924ORPHA1181395125270
HP:0002019HP:0002019Constipation0ALAD CL E G H210100924ORPHA1170395125270
HP:0002019HP:0002019Constipation0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1671438171760
HP:0002019HP:0002019Constipation0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1575438171760
HP:0002019HP:0002019Constipation0AQP2 CL E G H359223ORPHA1247634107777
HP:0002019HP:0002019Constipation0AQP2 CL E G H359223ORPHA1239634107777
HP:0002019HP:0002019Constipation0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1239634107777
HP:0002019HP:0002019Constipation0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1247634107777
HP:0002019HP:0002019Constipation0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0002019HP:0002019Constipation0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0002019HP:0002019Constipation0ARVCF CL E G H421567ORPHA1544728602269
HP:0002019HP:0002019Constipation0ARVCF CL E G H421567ORPHA1550728602269
HP:0002019HP:0002019Constipation0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM132738100790
HP:0002019HP:0002019Constipation0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0002019HP:0002019Constipation0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0002019HP:0002019Constipation0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0002019HP:0002019Constipation0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554223ORPHA1382897300538
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554223ORPHA1371897300538
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1382897300538
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1371897300538
HP:0002019HP:0002019Constipation0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0002019HP:0002019Constipation0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0002019HP:0002019Constipation0BCL10 CL E G H891552417ORPHA188989603517
HP:0002019HP:0002019Constipation0BCL10 CL E G H891552417ORPHA179989603517
HP:0002019HP:0002019Constipation0BIRC3 CL E G H33052417ORPHA121591601721
HP:0002019HP:0002019Constipation0BIRC3 CL E G H33052417ORPHA123591601721
HP:0002019HP:0002019Constipation0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0002019HP:0002019Constipation0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0002019HP:0002019Constipation0BRCA1 CL E G H672168829ORPHA1122071100113705
HP:0002019HP:0002019Constipation0BRCA1 CL E G H672168829ORPHA1125861100113705
HP:0002019HP:0002019Constipation0CACNA1S CL E G H77979102ORPHA113271397114208
HP:0002019HP:0002019Constipation0CACNA1S CL E G H77979102ORPHA111541397114208
HP:0002019HP:0002019Constipation0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002019HP:0002019Constipation0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H23261314647ORPHA129818806611501
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H23261314647ORPHA128418806611501
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0002019HP:0002019Constipation0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0002019HP:0002019Constipation0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0002019HP:0002019Constipation0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002019HP:0002019Constipation0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002019HP:0002019Constipation0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002019HP:0002019Constipation0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002019HP:0002019Constipation0CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA1941952118494
HP:0002019HP:0002019Constipation0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0002019HP:0002019Constipation0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0002019HP:0002019Constipation0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0002019HP:0002019Constipation0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0002019HP:0002019Constipation0COL7A1 CL E G H129489842ORPHA120282214120120
HP:0002019HP:0002019Constipation0COL7A1 CL E G H129489842ORPHA116582214120120
HP:0002019HP:0002019Constipation0COL7A1 CL E G H129479408ORPHA120282214120120
HP:0002019HP:0002019Constipation0COL7A1 CL E G H129479408ORPHA116582214120120
HP:0002019HP:0002019Constipation0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0002019HP:0002019Constipation0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0002019HP:0002019Constipation0COMT CL E G H1312567ORPHA15872228116790
HP:0002019HP:0002019Constipation0COMT CL E G H1312567ORPHA15792228116790
HP:0002019HP:0002019Constipation0COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002019HP:0002019Constipation0COQ2 CL E G H2723598933ORPHA117125223609825
HP:0002019HP:0002019Constipation0COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002019HP:0002019Constipation0COQ2 CL E G H2723598933ORPHA113725223609825
HP:0002019HP:0002019Constipation0CPOX CL E G H137179273ORPHA11972321612732
HP:0002019HP:0002019Constipation0CPOX CL E G H137179273ORPHA11692321612732
HP:0002019HP:0002019Constipation0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11972321612732
HP:0002019HP:0002019Constipation0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11692321612732
HP:0002019HP:0002019Constipation0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0002019HP:0002019Constipation0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0002019HP:0002019Constipation0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0002019HP:0002019Constipation0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0002019HP:0002019Constipation0CTNS CL E G H1497411629ORPHA15502518606272
HP:0002019HP:0002019Constipation0CTNS CL E G H1497411629ORPHA15912518606272
HP:0002019HP:0002019Constipation0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA15617748607861
HP:0002019HP:0002019Constipation0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0002019HP:0002019Constipation0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0002019HP:0002019Constipation0DDOST CL E G H1650300536ORPHA11542728602202
HP:0002019HP:0002019Constipation0DDOST CL E G H1650300536ORPHA11792728602202
HP:0002019HP:0002019Constipation0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11792728602202
HP:0002019HP:0002019Constipation0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11542728602202
HP:0002019HP:0002019Constipation0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0002019HP:0002019Constipation0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0002019HP:0002019Constipation0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0002019HP:0002019Constipation0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0002019HP:0002019Constipation0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0002019HP:0002019Constipation0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0002019HP:0002019Constipation0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1459964601671
HP:0002019HP:0002019Constipation0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1379964601671
HP:0002019HP:0002019Constipation0DUOX2 CL E G H5050695716ORPHA166813273606759
HP:0002019HP:0002019Constipation0DUOX2 CL E G H5050695716ORPHA143413273606759
HP:0002019HP:0002019Constipation0DUOXA2 CL E G H40575395716ORPHA16932698612772
HP:0002019HP:0002019Constipation0DUOXA2 CL E G H40575395716ORPHA17032698612772
HP:0002019HP:0002019Constipation0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA1513146600423
HP:0002019HP:0002019Constipation0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA1523146600423
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908897ORPHA11493178131242
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908897ORPHA11383178131242
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM11383178131242
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM11493178131242
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA11493178131242
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA11383178131242
HP:0002019HP:0002019Constipation0EDNRB CL E G H1910897ORPHA12333180131244
HP:0002019HP:0002019Constipation0EDNRB CL E G H1910897ORPHA12583180131244
HP:0002019HP:0002019Constipation0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA12333180131244
HP:0002019HP:0002019Constipation0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA12583180131244
HP:0002019HP:0002019Constipation0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0002019HP:0002019Constipation0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0002019HP:0002019Constipation0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002019HP:0002019Constipation0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002019HP:0002019Constipation0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0002019HP:0002019Constipation0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0002019HP:0002019Constipation0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0002019HP:0002019Constipation0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0002019HP:0002019Constipation0EPCAM CL E G H4072144ORPHA137411529185535
HP:0002019HP:0002019Constipation0EPCAM CL E G H4072144ORPHA136011529185535
HP:0002019HP:0002019Constipation0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0002019HP:0002019Constipation0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0002019HP:0002019Constipation0FAN1 CL E G H22909144ORPHA136129170613534
HP:0002019HP:0002019Constipation0FAN1 CL E G H22909144ORPHA135129170613534
HP:0002019HP:0002019Constipation0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11743749193067
HP:0002019HP:0002019Constipation0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11723749193067
HP:0002019HP:0002019Constipation0FLII CL E G H2314819ORPHA11583750600362
HP:0002019HP:0002019Constipation0FLII CL E G H2314819ORPHA11553750600362
HP:0002019HP:0002019Constipation0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM121303754300017
HP:0002019HP:0002019Constipation0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM118933754300017
HP:0002019HP:0002019Constipation0FOXE1 CL E G H230495713ORPHA1703806602617
HP:0002019HP:0002019Constipation0FOXE1 CL E G H230495713ORPHA1693806602617
HP:0002019HP:0002019Constipation0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002019HP:0002019Constipation0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002019HP:0002019Constipation0FOXP1 CL E G H2708652417ORPHA13693823605515
HP:0002019HP:0002019Constipation0FOXP1 CL E G H2708652417ORPHA13523823605515
HP:0002019HP:0002019Constipation0GABRA3 CL E G H255679102ORPHA12144077305660
HP:0002019HP:0002019Constipation0GABRA3 CL E G H255679102ORPHA12184077305660
HP:0002019HP:0002019Constipation0GABRD CL E G H25631606ORPHA13614084137163
HP:0002019HP:0002019Constipation0GABRD CL E G H25631606ORPHA13404084137163
HP:0002019HP:0002019Constipation0GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM11284232600837
HP:0002019HP:0002019Constipation0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA11284232600837
HP:0002019HP:0002019Constipation0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM117417494608803
HP:0002019HP:0002019Constipation0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM122117494608803
HP:0002019HP:0002019Constipation0GP1BB CL E G H2812567ORPHA14304440138720
HP:0002019HP:0002019Constipation0GP1BB CL E G H2812567ORPHA14384440138720
HP:0002019HP:0002019Constipation0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002019HP:0002019Constipation0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002019HP:0002019Constipation0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0002019HP:0002019Constipation0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0002019HP:0002019Constipation0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0002019HP:0002019Constipation0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0002019HP:0002019Constipation0HESX1 CL E G H8820226307ORPHA1744877601802
HP:0002019HP:0002019Constipation0HESX1 CL E G H8820226307ORPHA1634877601802
HP:0002019HP:0002019Constipation0HIRA CL E G H7290567ORPHA14424916600237
HP:0002019HP:0002019Constipation0HIRA CL E G H7290567ORPHA14374916600237
HP:0002019HP:0002019Constipation0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12234921143054
HP:0002019HP:0002019Constipation0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12034921143054
HP:0002019HP:0002019Constipation0HMBS CL E G H314579276ORPHA13194982609806
HP:0002019HP:0002019Constipation0HMBS CL E G H314579276ORPHA12484982609806
HP:0002019HP:0002019Constipation0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM13194982609806
HP:0002019HP:0002019Constipation0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM12484982609806
HP:0002019HP:0002019Constipation0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11915042300610
HP:0002019HP:0002019Constipation0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0002019HP:0002019Constipation0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11115044600712
HP:0002019HP:0002019Constipation0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11085044600712
HP:0002019HP:0002019Constipation0HPSE2 CL E G H604952704ORPHA19318374613469
HP:0002019HP:0002019Constipation0HPSE2 CL E G H604952704ORPHA19818374613469
HP:0002019HP:0002019Constipation0HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19818374613469
HP:0002019HP:0002019Constipation0HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19318374613469
HP:0002019HP:0002019Constipation0IGH CL E G H349252417ORPHA11625477146910
HP:0002019HP:0002019Constipation0IGH CL E G H349252417ORPHA11655477146910
HP:0002019HP:0002019Constipation0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM18405542600502
HP:0002019HP:0002019Constipation0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19105542600502
HP:0002019HP:0002019Constipation0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0002019HP:0002019Constipation0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0002019HP:0002019Constipation0IYD CL E G H38943495716ORPHA16521071612025
HP:0002019HP:0002019Constipation0JMJD1C CL E G H221037567ORPHA181012313604503
HP:0002019HP:0002019Constipation0JMJD1C CL E G H221037567ORPHA189912313604503
HP:0002019HP:0002019Constipation0KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0002019HP:0002019Constipation0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002019HP:0002019Constipation0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0002019HP:0002019Constipation0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0002019HP:0002019Constipation0KCNJ18 CL E G H10013444479102ORPHA11639080613236
HP:0002019HP:0002019Constipation0KIT CL E G H381544890ORPHA117356342164920
HP:0002019HP:0002019Constipation0KIT CL E G H381544890ORPHA114906342164920
HP:0002019HP:0002019Constipation0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0002019HP:0002019Constipation0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0002019HP:0002019Constipation0KRAS CL E G H3845144ORPHA13416407190070
HP:0002019HP:0002019Constipation0KRAS CL E G H3845144ORPHA13316407190070
HP:0002019HP:0002019Constipation0LHX3 CL E G H8022226307ORPHA12826595600577
HP:0002019HP:0002019Constipation0LHX3 CL E G H8022226307ORPHA13006595600577
HP:0002019HP:0002019Constipation0LHX4 CL E G H89884226307ORPHA113521734602146
HP:0002019HP:0002019Constipation0LHX4 CL E G H89884226307ORPHA113121734602146
HP:0002019HP:0002019Constipation0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0002019HP:0002019Constipation0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0002019HP:0002019Constipation0LMNB1 CL E G H400199027ORPHA11516637150340
HP:0002019HP:0002019Constipation0LMNB1 CL E G H400199027ORPHA11296637150340
HP:0002019HP:0002019Constipation0LRIG2 CL E G H98602704ORPHA16120889608869
HP:0002019HP:0002019Constipation0LRIG2 CL E G H9860615112Urofacial syndrome 2615112C3554520OMIM16120889608869
HP:0002019HP:0002019Constipation0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0002019HP:0002019Constipation0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0002019HP:0002019Constipation0MALT1 CL E G H1089252417ORPHA12806819604860
HP:0002019HP:0002019Constipation0MALT1 CL E G H1089252417ORPHA12186819604860
HP:0002019HP:0002019Constipation0MBD5 CL E G H55777228402ORPHA199320444611472
HP:0002019HP:0002019Constipation0MBD5 CL E G H55777228402ORPHA187820444611472
HP:0002019HP:0002019Constipation0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM11696971154100
HP:0002019HP:0002019Constipation0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM1906971154100
HP:0002019HP:0002019Constipation0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116846990300005
HP:0002019HP:0002019Constipation0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116036990300005
HP:0002019HP:0002019Constipation0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116846990300005
HP:0002019HP:0002019Constipation0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116036990300005
HP:0002019HP:0002019Constipation0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1103411957300188
HP:0002019HP:0002019Constipation0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM194111957300188
HP:0002019HP:0002019Constipation0MEFV CL E G H4210342ORPHA17956998608107
HP:0002019HP:0002019Constipation0MEFV CL E G H4210342ORPHA17376998608107
HP:0002019HP:0002019Constipation0MLH1 CL E G H4292144ORPHA137637127120436
HP:0002019HP:0002019Constipation0MLH1 CL E G H4292144ORPHA135407127120436
HP:0002019HP:0002019Constipation0MLH3 CL E G H27030144ORPHA17637128604395
HP:0002019HP:0002019Constipation0MLH3 CL E G H27030144ORPHA16347128604395
HP:0002019HP:0002019Constipation0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0002019HP:0002019Constipation0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0002019HP:0002019Constipation0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM13407150606761
HP:0002019HP:0002019Constipation0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM13027150606761
HP:0002019HP:0002019Constipation0MMP1 CL E G H431279408ORPHA1657155120353
HP:0002019HP:0002019Constipation0MMP1 CL E G H431279408ORPHA1637155120353
HP:0002019HP:0002019Constipation0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16916618611994
HP:0002019HP:0002019Constipation0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16316618611994
HP:0002019HP:0002019Constipation0MSH2 CL E G H4436144ORPHA149647325609309
HP:0002019HP:0002019Constipation0MSH2 CL E G H4436144ORPHA146077325609309
HP:0002019HP:0002019Constipation0MSH6 CL E G H2956144ORPHA162197329600678
HP:0002019HP:0002019Constipation0MSH6 CL E G H2956144ORPHA157177329600678
HP:0002019HP:0002019Constipation0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0002019HP:0002019Constipation0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0002019HP:0002019Constipation0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0002019HP:0002019Constipation0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM159019082611549
HP:0002019HP:0002019Constipation0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM157319082611549
HP:0002019HP:0002019Constipation0NKX2-1 CL E G H708095713ORPHA117011825600635
HP:0002019HP:0002019Constipation0NKX2-1 CL E G H708095713ORPHA119411825600635
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H148295713ORPHA13552488600584
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H148295712ORPHA13552488600584
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H148295713ORPHA12912488600584
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H148295712ORPHA12912488600584
HP:0002019HP:0002019Constipation0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM1957981601828
HP:0002019HP:0002019Constipation0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM1897981601828
HP:0002019HP:0002019Constipation0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA1168007602018
HP:0002019HP:0002019Constipation0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA1158007602018
HP:0002019HP:0002019Constipation0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM115838008600565
HP:0002019HP:0002019Constipation0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM114138008600565
HP:0002019HP:0002019Constipation0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0002019HP:0002019Constipation0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0002019HP:0002019Constipation0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14758108300535
HP:0002019HP:0002019Constipation0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14258108300535
HP:0002019HP:0002019Constipation0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM124530032607492
HP:0002019HP:0002019Constipation0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM121930032607492
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995712ORPHA11878622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995713ORPHA11878622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995720ORPHA11918622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995720ORPHA11878622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995712ORPHA11918622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995713ORPHA11918622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM11918622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM11878622167415
HP:0002019HP:0002019Constipation0PCCA CL E G H509535ORPHA17498653232000
HP:0002019HP:0002019Constipation0PCCA CL E G H509535ORPHA16068653232000
HP:0002019HP:0002019Constipation0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16068653232000
HP:0002019HP:0002019Constipation0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17498653232000
HP:0002019HP:0002019Constipation0PCCB CL E G H509635ORPHA16188654232050
HP:0002019HP:0002019Constipation0PCCB CL E G H509635ORPHA14808654232050
HP:0002019HP:0002019Constipation0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16188654232050
HP:0002019HP:0002019Constipation0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM14808654232050
HP:0002019HP:0002019Constipation0PDGFRA CL E G H515644890ORPHA116808803173490
HP:0002019HP:0002019Constipation0PDGFRA CL E G H515644890ORPHA119298803173490
HP:0002019HP:0002019Constipation0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0002019HP:0002019Constipation0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0002019HP:0002019Constipation0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12828857603360
HP:0002019HP:0002019Constipation0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12038857603360
HP:0002019HP:0002019Constipation0PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM16099143603851
HP:0002019HP:0002019Constipation0PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM15129143603851
HP:0002019HP:0002019Constipation0PIK3CA CL E G H5290144ORPHA16138975171834
HP:0002019HP:0002019Constipation0PIK3CA CL E G H5290144ORPHA15448975171834
HP:0002019HP:0002019Constipation0PMS1 CL E G H5378144ORPHA1929121600258
HP:0002019HP:0002019Constipation0PMS1 CL E G H5378144ORPHA1859121600258
HP:0002019HP:0002019Constipation0PMS2 CL E G H5395144ORPHA134219122600259
HP:0002019HP:0002019Constipation0PMS2 CL E G H5395144ORPHA131549122600259
HP:0002019HP:0002019Constipation0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM139718801614787
HP:0002019HP:0002019Constipation0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM138118801614787
HP:0002019HP:0002019Constipation0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM114709179174763
HP:0002019HP:0002019Constipation0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM117129179174763
HP:0002019HP:0002019Constipation0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0002019HP:0002019Constipation0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0002019HP:0002019Constipation0POU1F1 CL E G H5449226307ORPHA1889210173110
HP:0002019HP:0002019Constipation0POU1F1 CL E G H5449226307ORPHA1909210173110
HP:0002019HP:0002019Constipation0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0002019HP:0002019Constipation0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0002019HP:0002019Constipation0PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM11469280600923
HP:0002019HP:0002019Constipation0PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM11249280600923
HP:0002019HP:0002019Constipation0PRDM16 CL E G H639761606ORPHA198614000605557
HP:0002019HP:0002019Constipation0PRDM16 CL E G H639761606ORPHA188614000605557
HP:0002019HP:0002019Constipation0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11469449176640
HP:0002019HP:0002019Constipation0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11319449176640
HP:0002019HP:0002019Constipation0PROP1 CL E G H5626226307ORPHA12059455601538
HP:0002019HP:0002019Constipation0PROP1 CL E G H5626226307ORPHA11959455601538
HP:0002019HP:0002019Constipation0RAI1 CL E G H10743819ORPHA18069834607642
HP:0002019HP:0002019Constipation0RAI1 CL E G H10743819ORPHA15159834607642
HP:0002019HP:0002019Constipation0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM18069834607642
HP:0002019HP:0002019Constipation0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM15159834607642
HP:0002019HP:0002019Constipation0RERE CL E G H4731606ORPHA12299965605226
HP:0002019HP:0002019Constipation0RERE CL E G H4731606ORPHA12579965605226
HP:0002019HP:0002019Constipation0RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM120509967164761
HP:0002019HP:0002019Constipation0RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM118079967164761
HP:0002019HP:0002019Constipation0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA120509967164761
HP:0002019HP:0002019Constipation0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA118079967164761
HP:0002019HP:0002019Constipation0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM118079967164761
HP:0002019HP:0002019Constipation0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM120509967164761
HP:0002019HP:0002019Constipation0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0002019HP:0002019Constipation0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0002019HP:0002019Constipation0RREB1 CL E G H6239567ORPHA117410449602209
HP:0002019HP:0002019Constipation0RREB1 CL E G H6239567ORPHA117210449602209
HP:0002019HP:0002019Constipation0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA125110524602218
HP:0002019HP:0002019Constipation0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA127010524602218
HP:0002019HP:0002019Constipation0SCN10A CL E G H633646348ORPHA188210582604427
HP:0002019HP:0002019Constipation0SCN10A CL E G H633646348ORPHA1104310582604427
HP:0002019HP:0002019Constipation0SCN11A CL E G H1128046348ORPHA185110583604385
HP:0002019HP:0002019Constipation0SCN11A CL E G H1128046348ORPHA171310583604385
HP:0002019HP:0002019Constipation0SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM185110583604385
HP:0002019HP:0002019Constipation0SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM171310583604385
HP:0002019HP:0002019Constipation0SCN9A CL E G H633546348ORPHA1143810597603415
HP:0002019HP:0002019Constipation0SCN9A CL E G H633546348ORPHA1170810597603415
HP:0002019HP:0002019Constipation0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1170810597603415
HP:0002019HP:0002019Constipation0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1143810597603415
HP:0002019HP:0002019Constipation0SCNN1A CL E G H6337526Acute myeloblastic leukemia type 1ORPHA121410599600228
HP:0002019HP:0002019Constipation0SCNN1A CL E G H6337526Acute myeloblastic leukemia type 1ORPHA120710599600228
HP:0002019HP:0002019Constipation0SCNN1B CL E G H6338526Acute myeloblastic leukemia type 1ORPHA120110600600760
HP:0002019HP:0002019Constipation0SCNN1B CL E G H6338526Acute myeloblastic leukemia type 1ORPHA120510600600760
HP:0002019HP:0002019Constipation0SCNN1G CL E G H6340526Acute myeloblastic leukemia type 1ORPHA116310602600761
HP:0002019HP:0002019Constipation0SCNN1G CL E G H6340526Acute myeloblastic leukemia type 1ORPHA116210602600761
HP:0002019HP:0002019Constipation0SDHA CL E G H638944890ORPHA1177810680600857
HP:0002019HP:0002019Constipation0SDHA CL E G H638944890ORPHA1154510680600857
HP:0002019HP:0002019Constipation0SDHB CL E G H639044890ORPHA182410681185470
HP:0002019HP:0002019Constipation0SDHB CL E G H639044890ORPHA192610681185470
HP:0002019HP:0002019Constipation0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0002019HP:0002019Constipation0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0002019HP:0002019Constipation0SDHC CL E G H639144890ORPHA157510682602413
HP:0002019HP:0002019Constipation0SDHC CL E G H639144890ORPHA152610682602413
HP:0002019HP:0002019Constipation0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0002019HP:0002019Constipation0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0002019HP:0002019Constipation0SEC24C CL E G H9632567ORPHA12510705607185
HP:0002019HP:0002019Constipation0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA14310725602645
HP:0002019HP:0002019Constipation0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA14210725602645
HP:0002019HP:0002019Constipation0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA14910726609907
HP:0002019HP:0002019Constipation0SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM14229165614776
HP:0002019HP:0002019Constipation0SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM13529165614776
HP:0002019HP:0002019Constipation0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM111810889603714
HP:0002019HP:0002019Constipation0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM110410889603714
HP:0002019HP:0002019Constipation0SKI CL E G H64971606ORPHA168610896164780
HP:0002019HP:0002019Constipation0SKI CL E G H64971606ORPHA162910896164780
HP:0002019HP:0002019Constipation0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM128110910600839
HP:0002019HP:0002019Constipation0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM132710910600839
HP:0002019HP:0002019Constipation0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM186810912600968
HP:0002019HP:0002019Constipation0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM178510912600968
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H517295720ORPHA18388818605646
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H517295713ORPHA19198818605646
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H517295713ORPHA18388818605646
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H517295720ORPHA19198818605646
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H652895716ORPHA114711040601843
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H652895716ORPHA114911040601843
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM114911040601843
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM114711040601843
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM177011055300036
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM171611055300036
HP:0002019HP:0002019Constipation0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM165211120607608
HP:0002019HP:0002019Constipation0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM160511120607608
HP:0002019HP:0002019Constipation0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM111611139603779
HP:0002019HP:0002019Constipation0SOX10 CL E G H6663163746ORPHA127311190602229
HP:0002019HP:0002019Constipation0SOX10 CL E G H6663897ORPHA127311190602229
HP:0002019HP:0002019Constipation0SOX10 CL E G H6663163746ORPHA124711190602229
HP:0002019HP:0002019Constipation0SOX10 CL E G H6663897ORPHA124711190602229
HP:0002019HP:0002019Constipation0SPART CL E G H23111101000ORPHA121518514607111
HP:0002019HP:0002019Constipation0SPART CL E G H23111101000ORPHA124618514607111
HP:0002019HP:0002019Constipation0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA132016974611421
HP:0002019HP:0002019Constipation0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA146516974611421
HP:0002019HP:0002019Constipation0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM136211581604649
HP:0002019HP:0002019Constipation0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM130311581604649
HP:0002019HP:0002019Constipation0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116211586605842
HP:0002019HP:0002019Constipation0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116111586605842
HP:0002019HP:0002019Constipation0TBX1 CL E G H6899567ORPHA180411592602054
HP:0002019HP:0002019Constipation0TBX1 CL E G H6899567ORPHA172111592602054
HP:0002019HP:0002019Constipation0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA181211634602272
HP:0002019HP:0002019Constipation0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA175611634602272
HP:0002019HP:0002019Constipation0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM175611634602272
HP:0002019HP:0002019Constipation0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM181211634602272
HP:0002019HP:0002019Constipation0TG CL E G H703895716ORPHA153311764188450
HP:0002019HP:0002019Constipation0TG CL E G H703895716ORPHA153011764188450
HP:0002019HP:0002019Constipation0TGFBR2 CL E G H7048144ORPHA175011773190182
HP:0002019HP:0002019Constipation0TGFBR2 CL E G H7048144ORPHA169411773190182
HP:0002019HP:0002019Constipation0TH CL E G H7054101150ORPHA165511782191290
HP:0002019HP:0002019Constipation0TH CL E G H7054101150ORPHA155011782191290
HP:0002019HP:0002019Constipation0THRA CL E G H706797927ORPHA14411796190120
HP:0002019HP:0002019Constipation0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM14411796190120
HP:0002019HP:0002019Constipation0THRB CL E G H706897927ORPHA132211799190160
HP:0002019HP:0002019Constipation0THRB CL E G H706897927ORPHA131711799190160
HP:0002019HP:0002019Constipation0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM110511842608439
HP:0002019HP:0002019Constipation0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM19911842608439
HP:0002019HP:0002019Constipation0TNFRSF1A CL E G H713232960ORPHA135211916191190
HP:0002019HP:0002019Constipation0TNFRSF1A CL E G H713232960ORPHA139611916191190
HP:0002019HP:0002019Constipation0TNXB CL E G H7148285Impossible syndromeORPHA173911976600985
HP:0002019HP:0002019Constipation0TNXB CL E G H7148285Impossible syndromeORPHA175211976600985
HP:0002019HP:0002019Constipation0TPO CL E G H717395716ORPHA128912015606765
HP:0002019HP:0002019Constipation0TPO CL E G H717395716ORPHA129512015606765
HP:0002019HP:0002019Constipation0TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM12712298613879
HP:0002019HP:0002019Constipation0TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM12612298613879
HP:0002019HP:0002019Constipation0TRHR CL E G H720199832ORPHA14912299188545
HP:0002019HP:0002019Constipation0TSHB CL E G H725290674ORPHA12912372188540
HP:0002019HP:0002019Constipation0TSHR CL E G H725395713ORPHA120312373603372
HP:0002019HP:0002019Constipation0TSHR CL E G H725395720ORPHA120412373603372
HP:0002019HP:0002019Constipation0TSHR CL E G H725395720ORPHA120312373603372
HP:0002019HP:0002019Constipation0TSHR CL E G H725390673ORPHA120412373603372
HP:0002019HP:0002019Constipation0TSHR CL E G H725395713ORPHA120412373603372
HP:0002019HP:0002019Constipation0TSHR CL E G H725390673ORPHA120312373603372
HP:0002019HP:0002019Constipation0TTR CL E G H727685447ORPHA130612405176300
HP:0002019HP:0002019Constipation0TTR CL E G H727685447ORPHA128212405176300
HP:0002019HP:0002019Constipation0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM128212405176300
HP:0002019HP:0002019Constipation0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM130612405176300
HP:0002019HP:0002019Constipation0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM16653148131222
HP:0002019HP:0002019Constipation0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM15503148131222
HP:0002019HP:0002019Constipation0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM194812496601623
HP:0002019HP:0002019Constipation0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM189712496601623
HP:0002019HP:0002019Constipation0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM12226941610554
HP:0002019HP:0002019Constipation0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM12026941610554
HP:0002019HP:0002019Constipation0UFD1 CL E G H7353567ORPHA140712520601754
HP:0002019HP:0002019Constipation0UFD1 CL E G H7353567ORPHA140212520601754
HP:0002019HP:0002019Constipation0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM176526582612636
HP:0002019HP:0002019Constipation0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM126326582612636
HP:0002019HP:0002019Constipation0VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM126015512610132
HP:0002019HP:0002019Constipation0VPS11 CL E G H55823466934ORPHA110514583608549
HP:0002019HP:0002019Constipation0VPS11 CL E G H55823466934ORPHA17214583608549
HP:0002019HP:0002019Constipation0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM110514583608549
HP:0002019HP:0002019Constipation0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM17214583608549
HP:0002019HP:0002019Constipation0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM110321208617424
HP:0002019HP:0002019Constipation0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM19921208617424
HP:0002019HP:0002019Constipation0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM125829316615951
HP:0002019HP:0002019Constipation0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM111629316615951
HP:0002019HP:0012450Chronic constipation1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0002019HP:0012450Chronic constipation1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0002019HP:0012451Acute constipation1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM118876189980
HP:0002019HP:0012451Acute constipation1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM114776189980
HP:0002019HP:0012451Acute constipation1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM163145102545
HP:0002019HP:0012450Chronic constipation1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM167145102545
HP:0002019HP:0012450Chronic constipation1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM163145102545
HP:0002019HP:0012451Acute constipation1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM167145102545
HP:0002019HP:0012450Chronic constipation1ALAD CL E G H210100924ORPHA1170395125270
HP:0002019HP:0012451Acute constipation1ALAD CL E G H210100924ORPHA1181395125270
HP:0002019HP:0012451Acute constipation1ALAD CL E G H210100924ORPHA1170395125270
HP:0002019HP:0012450Chronic constipation1ALAD CL E G H210100924ORPHA1181395125270
HP:0002019HP:0012450Chronic constipation1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1671438171760
HP:0002019HP:0012450Chronic constipation1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1575438171760
HP:0002019HP:0012451Acute constipation1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1671438171760
HP:0002019HP:0012451Acute constipation1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1575438171760
HP:0002019HP:0012451Acute constipation1AQP2 CL E G H359223ORPHA1247634107777
HP:0002019HP:0012451Acute constipation1AQP2 CL E G H359223ORPHA1239634107777
HP:0002019HP:0012450Chronic constipation1AQP2 CL E G H359223ORPHA1247634107777
HP:0002019HP:0012450Chronic constipation1AQP2 CL E G H359223ORPHA1239634107777
HP:0002019HP:0012451Acute constipation1AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1239634107777
HP:0002019HP:0012450Chronic constipation1AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1247634107777
HP:0002019HP:0012450Chronic constipation1AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1239634107777
HP:0002019HP:0012451Acute constipation1AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1247634107777
HP:0002019HP:0012450Chronic constipation1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0002019HP:0012450Chronic constipation1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0002019HP:0012451Acute constipation1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0002019HP:0012451Acute constipation1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0002019HP:0012451Acute constipation1ARVCF CL E G H421567ORPHA1544728602269
HP:0002019HP:0012450Chronic constipation1ARVCF CL E G H421567ORPHA1550728602269
HP:0002019HP:0012450Chronic constipation1ARVCF CL E G H421567ORPHA1544728602269
HP:0002019HP:0012451Acute constipation1ARVCF CL E G H421567ORPHA1550728602269
HP:0002019HP:0012450Chronic constipation1ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM132738100790
HP:0002019HP:0012451Acute constipation1ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM132738100790
HP:0002019HP:0012450Chronic constipation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0002019HP:0012450Chronic constipation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0002019HP:0012451Acute constipation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0002019HP:0012451Acute constipation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0002019HP:0012450Chronic constipation1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0002019HP:0012450Chronic constipation1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0002019HP:0012451Acute constipation1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0002019HP:0012451Acute constipation1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0002019HP:0012450Chronic constipation1AVPR2 CL E G H554223ORPHA1382897300538
HP:0002019HP:0012450Chronic constipation1AVPR2 CL E G H554223ORPHA1371897300538
HP:0002019HP:0012451Acute constipation1AVPR2 CL E G H554223ORPHA1382897300538
HP:0002019HP:0012451Acute constipation1AVPR2 CL E G H554223ORPHA1371897300538
HP:0002019HP:0012451Acute constipation1AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1382897300538
HP:0002019HP:0012451Acute constipation1AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1371897300538
HP:0002019HP:0012450Chronic constipation1AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1382897300538
HP:0002019HP:0012450Chronic constipation1AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1371897300538
HP:0002019HP:0012451Acute constipation1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0002019HP:0012450Chronic constipation1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0002019HP:0012450Chronic constipation1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0002019HP:0012451Acute constipation1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0002019HP:0012450Chronic constipation1BCL10 CL E G H891552417ORPHA179989603517
HP:0002019HP:0012451Acute constipation1BCL10 CL E G H891552417ORPHA188989603517
HP:0002019HP:0012451Acute constipation1BCL10 CL E G H891552417ORPHA179989603517
HP:0002019HP:0012450Chronic constipation1BCL10 CL E G H891552417ORPHA188989603517
HP:0002019HP:0012451Acute constipation1BIRC3 CL E G H33052417ORPHA121591601721
HP:0002019HP:0012450Chronic constipation1BIRC3 CL E G H33052417ORPHA123591601721
HP:0002019HP:0012450Chronic constipation1BIRC3 CL E G H33052417ORPHA121591601721
HP:0002019HP:0012451Acute constipation1BIRC3 CL E G H33052417ORPHA123591601721
HP:0002019HP:0012451Acute constipation1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0002019HP:0012450Chronic constipation1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0002019HP:0012450Chronic constipation1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0002019HP:0012451Acute constipation1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0002019HP:0012451Acute constipation1BRCA1 CL E G H672168829ORPHA1122071100113705
HP:0002019HP:0012450Chronic constipation1BRCA1 CL E G H672168829ORPHA1125861100113705
HP:0002019HP:0012450Chronic constipation1BRCA1 CL E G H672168829ORPHA1122071100113705
HP:0002019HP:0012451Acute constipation1BRCA1 CL E G H672168829ORPHA1125861100113705
HP:0002019HP:0012450Chronic constipation1CACNA1S CL E G H77979102ORPHA111541397114208
HP:0002019HP:0012451Acute constipation1CACNA1S CL E G H77979102ORPHA113271397114208
HP:0002019HP:0012451Acute constipation1CACNA1S CL E G H77979102ORPHA111541397114208
HP:0002019HP:0012450Chronic constipation1CACNA1S CL E G H77979102ORPHA113271397114208
HP:0002019HP:0012451Acute constipation1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002019HP:0012451Acute constipation1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002019HP:0012450Chronic constipation1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002019HP:0012450Chronic constipation1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002019HP:0012450Chronic constipation1CAMTA1 CL E G H23261314647ORPHA128418806611501
HP:0002019HP:0012451Acute constipation1CAMTA1 CL E G H23261314647ORPHA129818806611501
HP:0002019HP:0012451Acute constipation1CAMTA1 CL E G H23261314647ORPHA128418806611501
HP:0002019HP:0012450Chronic constipation1CAMTA1 CL E G H23261314647ORPHA129818806611501
HP:0002019HP:0012450Chronic constipation1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0002019HP:0012450Chronic constipation1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0002019HP:0012451Acute constipation1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0002019HP:0012451Acute constipation1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0002019HP:0012451Acute constipation1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0002019HP:0012451Acute constipation1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0002019HP:0012450Chronic constipation1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0002019HP:0012450Chronic constipation1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0002019HP:0012450Chronic constipation1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002019HP:0012451Acute constipation1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002019HP:0012451Acute constipation1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002019HP:0012450Chronic constipation1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002019HP:0012451Acute constipation1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002019HP:0012451Acute constipation1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002019HP:0012450Chronic constipation1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002019HP:0012450Chronic constipation1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002019HP:0012450Chronic constipation1CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA1941952118494
HP:0002019HP:0012451Acute constipation1CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA1941952118494
HP:0002019HP:0012450Chronic constipation1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0002019HP:0012451Acute constipation1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0002019HP:0012451Acute constipation1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0002019HP:0012450Chronic constipation1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0002019HP:0012450Chronic constipation1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0002019HP:0012451Acute constipation1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0002019HP:0012451Acute constipation1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0002019HP:0012450Chronic constipation1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0002019HP:0012451Acute constipation1COL7A1 CL E G H129489842ORPHA120282214120120
HP:0002019HP:0012450Chronic constipation1COL7A1 CL E G H129479408ORPHA120282214120120
HP:0002019HP:0012451Acute constipation1COL7A1 CL E G H129489842ORPHA116582214120120
HP:0002019HP:0012450Chronic constipation1COL7A1 CL E G H129479408ORPHA116582214120120
HP:0002019HP:0012450Chronic constipation1COL7A1 CL E G H129489842ORPHA120282214120120
HP:0002019HP:0012451Acute constipation1COL7A1 CL E G H129479408ORPHA120282214120120
HP:0002019HP:0012450Chronic constipation1COL7A1 CL E G H129489842ORPHA116582214120120
HP:0002019HP:0012451Acute constipation1COL7A1 CL E G H129479408ORPHA116582214120120
HP:0002019HP:0012450Chronic constipation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0002019HP:0012450Chronic constipation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0002019HP:0012451Acute constipation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0002019HP:0012451Acute constipation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0002019HP:0012450Chronic constipation1COMT CL E G H1312567ORPHA15792228116790
HP:0002019HP:0012451Acute constipation1COMT CL E G H1312567ORPHA15872228116790
HP:0002019HP:0012451Acute constipation1COMT CL E G H1312567ORPHA15792228116790
HP:0002019HP:0012450Chronic constipation1COMT CL E G H1312567ORPHA15872228116790
HP:0002019HP:0012451Acute constipation1COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002019HP:0012450Chronic constipation1COQ2 CL E G H2723598933ORPHA117125223609825
HP:0002019HP:0012450Chronic constipation1COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002019HP:0012450Chronic constipation1COQ2 CL E G H2723598933ORPHA113725223609825
HP:0002019HP:0012450Chronic constipation1COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002019HP:0012451Acute constipation1COQ2 CL E G H2723598933ORPHA117125223609825
HP:0002019HP:0012451Acute constipation1COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002019HP:0012451Acute constipation1COQ2 CL E G H2723598933ORPHA113725223609825
HP:0002019HP:0012450Chronic constipation1CPOX CL E G H137179273ORPHA11972321612732
HP:0002019HP:0012450Chronic constipation1CPOX CL E G H137179273ORPHA11692321612732
HP:0002019HP:0012451Acute constipation1CPOX CL E G H137179273ORPHA11972321612732
HP:0002019HP:0012451Acute constipation1CPOX CL E G H137179273ORPHA11692321612732
HP:0002019HP:0012450Chronic constipation1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11692321612732
HP:0002019HP:0012451Acute constipation1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11972321612732
HP:0002019HP:0012451Acute constipation1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11692321612732
HP:0002019HP:0012450Chronic constipation1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11972321612732
HP:0002019HP:0012451Acute constipation1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0002019HP:0012451Acute constipation1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0002019HP:0012450Chronic constipation1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0002019HP:0012450Chronic constipation1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0002019HP:0012450Chronic constipation1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0002019HP:0012450Chronic constipation1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0002019HP:0012451Acute constipation1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0002019HP:0012451Acute constipation1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0002019HP:0012451Acute constipation1CTNS CL E G H1497411629ORPHA15502518606272
HP:0002019HP:0012450Chronic constipation1CTNS CL E G H1497411629ORPHA15912518606272
HP:0002019HP:0012450Chronic constipation1CTNS CL E G H1497411629ORPHA15502518606272
HP:0002019HP:0012451Acute constipation1CTNS CL E G H1497411629ORPHA15912518606272
HP:0002019HP:0012450Chronic constipation1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA15617748607861
HP:0002019HP:0012451Acute constipation1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA15617748607861
HP:0002019HP:0012451Acute constipation1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0002019HP:0012450Chronic constipation1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0002019HP:0012450Chronic constipation1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0002019HP:0012451Acute constipation1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0002019HP:0012451Acute constipation1DDOST CL E G H1650300536ORPHA11542728602202
HP:0002019HP:0012450Chronic constipation1DDOST CL E G H1650300536ORPHA11792728602202
HP:0002019HP:0012450Chronic constipation1DDOST CL E G H1650300536ORPHA11542728602202
HP:0002019HP:0012451Acute constipation1DDOST CL E G H1650300536ORPHA11792728602202
HP:0002019HP:0012451Acute constipation1DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11792728602202
HP:0002019HP:0012451Acute constipation1DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11542728602202
HP:0002019HP:0012450Chronic constipation1DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11792728602202
HP:0002019HP:0012450Chronic constipation1DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11542728602202
HP:0002019HP:0012451Acute constipation1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0002019HP:0012451Acute constipation1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0002019HP:0012450Chronic constipation1DEAF1 CL E G H10522819ORPHA131114677602635
HP:0002019HP:0012450Chronic constipation1DEAF1 CL E G H10522819ORPHA117914677602635
HP:0002019HP:0012450Chronic constipation1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0002019HP:0012451Acute constipation1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0002019HP:0012451Acute constipation1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0002019HP:0012450Chronic constipation1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0002019HP:0012451Acute constipation1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0002019HP:0012451Acute constipation1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0002019HP:0012450Chronic constipation1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0002019HP:0012450Chronic constipation1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0002019HP:0012450Chronic constipation1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1459964601671
HP:0002019HP:0012450Chronic constipation1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1379964601671
HP:0002019HP:0012451Acute constipation1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1459964601671
HP:0002019HP:0012451Acute constipation1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1379964601671
HP:0002019HP:0012450Chronic constipation1DUOX2 CL E G H5050695716ORPHA143413273606759
HP:0002019HP:0012451Acute constipation1DUOX2 CL E G H5050695716ORPHA166813273606759
HP:0002019HP:0012451Acute constipation1DUOX2 CL E G H5050695716ORPHA143413273606759
HP:0002019HP:0012450Chronic constipation1DUOX2 CL E G H5050695716ORPHA166813273606759
HP:0002019HP:0012451Acute constipation1DUOXA2 CL E G H40575395716ORPHA16932698612772
HP:0002019HP:0012450Chronic constipation1DUOXA2 CL E G H40575395716ORPHA17032698612772
HP:0002019HP:0012450Chronic constipation1DUOXA2 CL E G H40575395716ORPHA16932698612772
HP:0002019HP:0012451Acute constipation1DUOXA2 CL E G H40575395716ORPHA17032698612772
HP:0002019HP:0012451Acute constipation1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA1513146600423
HP:0002019HP:0012450Chronic constipation1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA1523146600423
HP:0002019HP:0012450Chronic constipation1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA1513146600423
HP:0002019HP:0012451Acute constipation1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA1523146600423
HP:0002019HP:0012450Chronic constipation1EDN3 CL E G H1908897ORPHA11383178131242
HP:0002019HP:0012451Acute constipation1EDN3 CL E G H1908897ORPHA11493178131242
HP:0002019HP:0012451Acute constipation1EDN3 CL E G H1908897ORPHA11383178131242
HP:0002019HP:0012450Chronic constipation1EDN3 CL E G H1908897ORPHA11493178131242
HP:0002019HP:0012451Acute constipation1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM11383178131242
HP:0002019HP:0012450Chronic constipation1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM11493178131242
HP:0002019HP:0012450Chronic constipation1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM11383178131242
HP:0002019HP:0012451Acute constipation1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM11493178131242
HP:0002019HP:0012450Chronic constipation1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA11383178131242
HP:0002019HP:0012451Acute constipation1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA11493178131242
HP:0002019HP:0012451Acute constipation1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA11383178131242
HP:0002019HP:0012450Chronic constipation1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA11493178131242
HP:0002019HP:0012451Acute constipation1EDNRB CL E G H1910897ORPHA12333180131244
HP:0002019HP:0012450Chronic constipation1EDNRB CL E G H1910897ORPHA12583180131244
HP:0002019HP:0012450Chronic constipation1EDNRB CL E G H1910897ORPHA12333180131244
HP:0002019HP:0012451Acute constipation1EDNRB CL E G H1910897ORPHA12583180131244
HP:0002019HP:0012451Acute constipation1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA12333180131244
HP:0002019HP:0012450Chronic constipation1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA12583180131244
HP:0002019HP:0012450Chronic constipation1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA12333180131244
HP:0002019HP:0012451Acute constipation1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA12583180131244
HP:0002019HP:0012451Acute constipation1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0002019HP:0012450Chronic constipation1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0002019HP:0012450Chronic constipation1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0002019HP:0012451Acute constipation1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0002019HP:0012450Chronic constipation1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002019HP:0012450Chronic constipation1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002019HP:0012451Acute constipation1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002019HP:0012451Acute constipation1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002019HP:0012451Acute constipation1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0002019HP:0012451Acute constipation1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0002019HP:0012450Chronic constipation1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0002019HP:0012450Chronic constipation1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0002019HP:0012450Chronic constipation1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0002019HP:0012450Chronic constipation1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0002019HP:0012451Acute constipation1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0002019HP:0012451Acute constipation1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0002019HP:0012450Chronic constipation1EPCAM CL E G H4072144ORPHA137411529185535
HP:0002019HP:0012450Chronic constipation1EPCAM CL E G H4072144ORPHA136011529185535
HP:0002019HP:0012451Acute constipation1EPCAM CL E G H4072144ORPHA137411529185535
HP:0002019HP:0012451Acute constipation1EPCAM CL E G H4072144ORPHA136011529185535
HP:0002019HP:0012450Chronic constipation1EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0002019HP:0012450Chronic constipation1EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0002019HP:0012451Acute constipation1EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0002019HP:0012451Acute constipation1EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0002019HP:0012451Acute constipation1FAN1 CL E G H22909144ORPHA136129170613534
HP:0002019HP:0012451Acute constipation1FAN1 CL E G H22909144ORPHA135129170613534
HP:0002019HP:0012450Chronic constipation1FAN1 CL E G H22909144ORPHA136129170613534
HP:0002019HP:0012450Chronic constipation1FAN1 CL E G H22909144ORPHA135129170613534
HP:0002019HP:0012450Chronic constipation1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11723749193067
HP:0002019HP:0012451Acute constipation1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11743749193067
HP:0002019HP:0012451Acute constipation1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11723749193067
HP:0002019HP:0012450Chronic constipation1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11743749193067
HP:0002019HP:0012450Chronic constipation1FLII CL E G H2314819ORPHA11583750600362
HP:0002019HP:0012450Chronic constipation1FLII CL E G H2314819ORPHA11553750600362
HP:0002019HP:0012451Acute constipation1FLII CL E G H2314819ORPHA11583750600362
HP:0002019HP:0012451Acute constipation1FLII CL E G H2314819ORPHA11553750600362
HP:0002019HP:0012451Acute constipation1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM121303754300017
HP:0002019HP:0012451Acute constipation1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM118933754300017
HP:0002019HP:0012450Chronic constipation1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM121303754300017
HP:0002019HP:0012450Chronic constipation1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM118933754300017
HP:0002019HP:0012450Chronic constipation1FOXE1 CL E G H230495713ORPHA1693806602617
HP:0002019HP:0012451Acute constipation1FOXE1 CL E G H230495713ORPHA1703806602617
HP:0002019HP:0012451Acute constipation1FOXE1 CL E G H230495713ORPHA1693806602617
HP:0002019HP:0012450Chronic constipation1FOXE1 CL E G H230495713ORPHA1703806602617
HP:0002019HP:0012451Acute constipation1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002019HP:0012450Chronic constipation1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002019HP:0012450Chronic constipation1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002019HP:0012451Acute constipation1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002019HP:0012450Chronic constipation1FOXP1 CL E G H2708652417ORPHA13523823605515
HP:0002019HP:0012451Acute constipation1FOXP1 CL E G H2708652417ORPHA13693823605515
HP:0002019HP:0012451Acute constipation1FOXP1 CL E G H2708652417ORPHA13523823605515
HP:0002019HP:0012450Chronic constipation1FOXP1 CL E G H2708652417ORPHA13693823605515
HP:0002019HP:0012451Acute constipation1GABRA3 CL E G H255679102ORPHA12144077305660
HP:0002019HP:0012450