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 SYNDROME617602C4539857OMIM1512776189980
HP:0002019HP:0002019Constipation0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002019HP:0002019Constipation0ALAD CL E G H210100924ORPHA112147395125270
HP:0002019HP:0002019Constipation0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0002019HP:0002019Constipation0AQP2 CL E G H359223ORPHA166176634107777
HP:0002019HP:0002019Constipation0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166176634107777
HP:0002019HP:0002019Constipation0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0002019HP:0002019Constipation0ARVCF CL E G H421567ORPHA12477728602269
HP:0002019HP:0002019Constipation0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0002019HP:0002019Constipation0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0002019HP:0002019Constipation0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554223ORPHA1286356897300538
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286356897300538
HP:0002019HP:0002019Constipation0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0002019HP:0002019Constipation0BCL10 CL E G H891552417ORPHA1362989603517
HP:0002019HP:0002019Constipation0BIRC3 CL E G H33052417ORPHA1119591601721
HP:0002019HP:0002019Constipation0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0002019HP:0002019Constipation0BRCA1 CL E G H672168829ORPHA12824114981100113705
HP:0002019HP:0002019Constipation0CACNA1S CL E G H77979102ORPHA1568411397114208
HP:0002019HP:0002019Constipation0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H23261314647ORPHA11123218806611501
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0002019HP:0002019Constipation0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0002019HP:0002019Constipation0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002019HP:0002019Constipation0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0002019HP:0002019Constipation0CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA18891952118494
HP:0002019HP:0002019Constipation0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0002019HP:0002019Constipation0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0002019HP:0002019Constipation0COL7A1 CL E G H129489842ORPHA18286912214120120
HP:0002019HP:0002019Constipation0COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0002019HP:0002019Constipation0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0002019HP:0002019Constipation0COMT CL E G H1312567ORPHA1155552228116790
HP:0002019HP:0002019Constipation0COQ2 CL E G H2723598933ORPHA13310225223609825
HP:0002019HP:0002019Constipation0COQ2 CL E G H27235227510ORPHA13310225223609825
HP:0002019HP:0002019Constipation0CPOX CL E G H137179273ORPHA1731362321612732
HP:0002019HP:0002019Constipation0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002019HP:0002019Constipation0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0002019HP:0002019Constipation0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0002019HP:0002019Constipation0CTNS CL E G H1497411629ORPHA11604182518606272
HP:0002019HP:0002019Constipation0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA185017748607861
HP:0002019HP:0002019Constipation0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM1591162719107930
HP:0002019HP:0002019Constipation0DDOST CL E G H1650300536ORPHA121062728602202
HP:0002019HP:0002019Constipation0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM121062728602202
HP:0002019HP:0002019Constipation0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0002019HP:0002019Constipation0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM11264942770125660
HP:0002019HP:0002019Constipation0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0002019HP:0002019Constipation0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0002019HP:0002019Constipation0DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0002019HP:0002019Constipation0DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0002019HP:0002019Constipation0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA17473146600423
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908897ORPHA1211173178131242
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0002019HP:0002019Constipation0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA1211173178131242
HP:0002019HP:0002019Constipation0EDNRB CL E G H1910897ORPHA1701913180131244
HP:0002019HP:0002019Constipation0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA1701913180131244
HP:0002019HP:0002019Constipation0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0002019HP:0002019Constipation0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0002019HP:0002019Constipation0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0002019HP:0002019Constipation0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0002019HP:0002019Constipation0EPCAM CL E G H4072144ORPHA18129311529185535
HP:0002019HP:0002019Constipation0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM12582753513608210
HP:0002019HP:0002019Constipation0FAN1 CL E G H22909144ORPHA12127329170613534
HP:0002019HP:0002019Constipation0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0002019HP:0002019Constipation0FLII CL E G H2314819ORPHA121533750600362
HP:0002019HP:0002019Constipation0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM127114723754300017
HP:0002019HP:0002019Constipation0FOXE1 CL E G H230495713ORPHA131483806602617
HP:0002019HP:0002019Constipation0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0002019HP:0002019Constipation0FOXP1 CL E G H2708652417ORPHA1762413823605515
HP:0002019HP:0002019Constipation0GABRA3 CL E G H255679102ORPHA182044077305660
HP:0002019HP:0002019Constipation0GABRD CL E G H25631606ORPHA172784084137163
HP:0002019HP:0002019Constipation0GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM1111194232600837
HP:0002019HP:0002019Constipation0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA1111194232600837
HP:0002019HP:0002019Constipation0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM15713317494608803
HP:0002019HP:0002019Constipation0GP1BB CL E G H2812567ORPHA1534044440138720
HP:0002019HP:0002019Constipation0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1393934584138249
HP:0002019HP:0002019Constipation0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0002019HP:0002019Constipation0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0002019HP:0002019Constipation0HESX1 CL E G H8820226307ORPHA127464877601802
HP:0002019HP:0002019Constipation0HIRA CL E G H7290567ORPHA153994916600237
HP:0002019HP:0002019Constipation0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM1151444921143054
HP:0002019HP:0002019Constipation0HMBS CL E G H314579276ORPHA14232104982609806
HP:0002019HP:0002019Constipation0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0002019HP:0002019Constipation0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0002019HP:0002019Constipation0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0002019HP:0002019Constipation0HPSE2 CL E G H604952704ORPHA1154718374613469
HP:0002019HP:0002019Constipation0HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM1154718374613469
HP:0002019HP:0002019Constipation0IGH CL E G H349252417ORPHA11625477146910
HP:0002019HP:0002019Constipation0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM11436835542600502
HP:0002019HP:0002019Constipation0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0002019HP:0002019Constipation0IYD CL E G H38943495716ORPHA154621071612025
HP:0002019HP:0002019Constipation0JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0002019HP:0002019Constipation0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0002019HP:0002019Constipation0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0002019HP:0002019Constipation0KCNJ18 CL E G H10013444479102ORPHA1171439080613236
HP:0002019HP:0002019Constipation0KIT CL E G H381544890ORPHA112111046342164920
HP:0002019HP:0002019Constipation0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM112111046342164920
HP:0002019HP:0002019Constipation0KRAS CL E G H3845144ORPHA1452746407190070
HP:0002019HP:0002019Constipation0LHX3 CL E G H8022226307ORPHA1181756595600577
HP:0002019HP:0002019Constipation0LHX4 CL E G H89884226307ORPHA12311621734602146
HP:0002019HP:0002019Constipation0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0002019HP:0002019Constipation0LMNB1 CL E G H400199027ORPHA1351026637150340
HP:0002019HP:0002019Constipation0LRIG2 CL E G H98602704ORPHA165520889608869
HP:0002019HP:0002019Constipation0LRIG2 CL E G H9860615112Urofacial syndrome 2615112C3554520OMIM165520889608869
HP:0002019HP:0002019Constipation0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0002019HP:0002019Constipation0MALT1 CL E G H1089252417ORPHA171496819604860
HP:0002019HP:0002019Constipation0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0002019HP:0002019Constipation0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19676971154100
HP:0002019HP:0002019Constipation0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0002019HP:0002019Constipation0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105014426990300005
HP:0002019HP:0002019Constipation0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0002019HP:0002019Constipation0MEFV CL E G H4210342ORPHA11895616998608107
HP:0002019HP:0002019Constipation0MLH1 CL E G H4292144ORPHA1120331857127120436
HP:0002019HP:0002019Constipation0MLH3 CL E G H27030144ORPHA1324877128604395
HP:0002019HP:0002019Constipation0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0002019HP:0002019Constipation0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0002019HP:0002019Constipation0MMP1 CL E G H431279408ORPHA18337155120353
HP:0002019HP:0002019Constipation0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM145816618611994
HP:0002019HP:0002019Constipation0MSH2 CL E G H4436144ORPHA1126440967325609309
HP:0002019HP:0002019Constipation0MSH6 CL E G H2956144ORPHA160250967329600678
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 1615419C3809454OMIM16524719082611549
HP:0002019HP:0002019Constipation0NKX2-1 CL E G H708095713ORPHA114313611825600635
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H148295713ORPHA11122152488600584
HP:0002019HP:0002019Constipation0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM123797981601828
HP:0002019HP:0002019Constipation0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA13158007602018
HP:0002019HP:0002019Constipation0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM134510778008600565
HP:0002019HP:0002019Constipation0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0002019HP:0002019Constipation0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0002019HP:0002019Constipation0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995720ORPHA1511438622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995712ORPHA1511438622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H784995713ORPHA1511438622167415
HP:0002019HP:0002019Constipation0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0002019HP:0002019Constipation0PCCA CL E G H509535ORPHA11493878653232000
HP:0002019HP:0002019Constipation0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0002019HP:0002019Constipation0PCCB CL E G H509635ORPHA11313018654232050
HP:0002019HP:0002019Constipation0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0002019HP:0002019Constipation0PDGFRA CL E G H515644890ORPHA12812488803173490
HP:0002019HP:0002019Constipation0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM12812488803173490
HP:0002019HP:0002019Constipation0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0002019HP:0002019Constipation0PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1883879143603851
HP:0002019HP:0002019Constipation0PIK3CA CL E G H5290144ORPHA1573798975171834
HP:0002019HP:0002019Constipation0PMS1 CL E G H5378144ORPHA136659121600258
HP:0002019HP:0002019Constipation0PMS2 CL E G H5395144ORPHA136327589122600259
HP:0002019HP:0002019Constipation0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0002019HP:0002019Constipation0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM130011969179174763
HP:0002019HP:0002019Constipation0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM130011969179174763
HP:0002019HP:0002019Constipation0POU1F1 CL E G H5449226307ORPHA146729210173110
HP:0002019HP:0002019Constipation0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0002019HP:0002019Constipation0PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM1185939280600923
HP:0002019HP:0002019Constipation0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0002019HP:0002019Constipation0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11091269449176640
HP:0002019HP:0002019Constipation0PROP1 CL E G H5626226307ORPHA1421509455601538
HP:0002019HP:0002019Constipation0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0002019HP:0002019Constipation0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM11164049834607642
HP:0002019HP:0002019Constipation0RERE CL E G H4731606ORPHA1251619965605226
HP:0002019HP:0002019Constipation0RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143214969967164761
HP:0002019HP:0002019Constipation0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA143214969967164761
HP:0002019HP:0002019Constipation0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0002019HP:0002019Constipation0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0002019HP:0002019Constipation0RREB1 CL E G H6239567ORPHA11217110449602209
HP:0002019HP:0002019Constipation0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA18818210524602218
HP:0002019HP:0002019Constipation0SCN10A CL E G H633646348ORPHA18563810582604427
HP:0002019HP:0002019Constipation0SCN11A CL E G H1128046348ORPHA12045410583604385
HP:0002019HP:0002019Constipation0SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12045410583604385
HP:0002019HP:0002019Constipation0SCN9A CL E G H633546348ORPHA1129109210597603415
HP:0002019HP:0002019Constipation0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1129109210597603415
HP:0002019HP:0002019Constipation0SCNN1A CL E G H6337526Acute myeloblastic leukemia type 1ORPHA14917110599600228
HP:0002019HP:0002019Constipation0SCNN1B CL E G H6338526Acute myeloblastic leukemia type 1ORPHA15014510600600760
HP:0002019HP:0002019Constipation0SCNN1G CL E G H6340526Acute myeloblastic leukemia type 1ORPHA12312110602600761
HP:0002019HP:0002019Constipation0SDHA CL E G H638944890ORPHA191127910680600857
HP:0002019HP:0002019Constipation0SDHB CL E G H639044890ORPHA127966710681185470
HP:0002019HP:0002019Constipation0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM127966710681185470
HP:0002019HP:0002019Constipation0SDHC CL E G H639144890ORPHA16241510682602413
HP:0002019HP:0002019Constipation0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM16241510682602413
HP:0002019HP:0002019Constipation0SEC24C CL E G H9632567ORPHA12410705607185
HP:0002019HP:0002019Constipation0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA144210725602645
HP:0002019HP:0002019Constipation0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA1144810726609907
HP:0002019HP:0002019Constipation0SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM123229165614776
HP:0002019HP:0002019Constipation0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1919010889603714
HP:0002019HP:0002019Constipation0SKI CL E G H64971606ORPHA12450210896164780
HP:0002019HP:0002019Constipation0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM19018410910600839
HP:0002019HP:0002019Constipation0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM150440710912600968
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H517295713ORPHA15645608818605646
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H517295720ORPHA15645608818605646
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H652895716ORPHA11813811040601843
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H6531238455ORPHA14625911049126455
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM14625911049126455
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H653552503ORPHA113954211055300036
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0002019HP:0002019Constipation0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0002019HP:0002019Constipation0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM1611511139603779
HP:0002019HP:0002019Constipation0SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0002019HP:0002019Constipation0SOX10 CL E G H6663897ORPHA115119211190602229
HP:0002019HP:0002019Constipation0SPART CL E G H23111101000ORPHA1718318514607111
HP:0002019HP:0002019Constipation0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0002019HP:0002019Constipation0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0002019HP:0002019Constipation0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0002019HP:0002019Constipation0TBX1 CL E G H6899567ORPHA18255311592602054
HP:0002019HP:0002019Constipation0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0002019HP:0002019Constipation0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0002019HP:0002019Constipation0TG CL E G H703895716ORPHA117242911764188450
HP:0002019HP:0002019Constipation0TGFBR2 CL E G H7048144ORPHA114857211773190182
HP:0002019HP:0002019Constipation0TH CL E G H7054101150ORPHA17734511782191290
HP:0002019HP:0002019Constipation0THRA CL E G H706797927ORPHA1143411796190120
HP:0002019HP:0002019Constipation0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0002019HP:0002019Constipation0THRB CL E G H706897927ORPHA117129511799190160
HP:0002019HP:0002019Constipation0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0002019HP:0002019Constipation0TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0002019HP:0002019Constipation0TNXB CL E G H7148285Impossible syndromeORPHA13824411976600985
HP:0002019HP:0002019Constipation0TPO CL E G H717395716ORPHA114725012015606765
HP:0002019HP:0002019Constipation0TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM132412298613879
HP:0002019HP:0002019Constipation0TRHR CL E G H720199832ORPHA174912299188545
HP:0002019HP:0002019Constipation0TSHB CL E G H725290674ORPHA1142512372188540
HP:0002019HP:0002019Constipation0TSHR CL E G H725395713ORPHA116117812373603372
HP:0002019HP:0002019Constipation0TSHR CL E G H725395720ORPHA116117812373603372
HP:0002019HP:0002019Constipation0TSHR CL E G H725390673ORPHA116117812373603372
HP:0002019HP:0002019Constipation0TTR CL E G H727685447ORPHA115124012405176300
HP:0002019HP:0002019Constipation0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0002019HP:0002019Constipation0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM1953813148131222
HP:0002019HP:0002019Constipation0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0002019HP:0002019Constipation0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0002019HP:0002019Constipation0UFD1 CL E G H7353567ORPHA1436812520601754
HP:0002019HP:0002019Constipation0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0002019HP:0002019Constipation0VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM12024015512610132
HP:0002019HP:0002019Constipation0VPS11 CL E G H55823466934ORPHA135414583608549
HP:0002019HP:0002019Constipation0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0002019HP:0002019Constipation0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0002019HP:0002019Constipation0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM126229316615951
HP:0002019HP:0002019Constipation1ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM1512776189980
HP:0002019HP:0002019Constipation1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002019HP:0002019Constipation1ALAD CL E G H210100924ORPHA112147395125270
HP:0002019HP:0002019Constipation1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0002019HP:0002019Constipation1AQP2 CL E G H359223ORPHA166176634107777
HP:0002019HP:0002019Constipation1AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166176634107777
HP:0002019HP:0002019Constipation1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0002019HP:0002019Constipation1ARVCF CL E G H421567ORPHA12477728602269
HP:0002019HP:0002019Constipation1ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0002019HP:0002019Constipation1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0002019HP:0002019Constipation1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0002019HP:0002019Constipation1AVPR2 CL E G H554223ORPHA1286356897300538
HP:0002019HP:0002019Constipation1AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286356897300538
HP:0002019HP:0002019Constipation1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0002019HP:0002019Constipation1BCL10 CL E G H891552417ORPHA1362989603517
HP:0002019HP:0002019Constipation1BIRC3 CL E G H33052417ORPHA1119591601721
HP:0002019HP:0002019Constipation1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0002019HP:0002019Constipation1BRCA1 CL E G H672168829ORPHA12824114981100113705
HP:0002019HP:0002019Constipation1CACNA1S CL E G H77979102ORPHA1568411397114208
HP:0002019HP:0002019Constipation1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0002019HP:0002019Constipation1CAMTA1 CL E G H23261314647ORPHA11123218806611501
HP:0002019HP:0002019Constipation1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0002019HP:0002019Constipation1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0002019HP:0002019Constipation1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002019HP:0002019Constipation1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0002019HP:0002019Constipation1CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA18891952118494
HP:0002019HP:0002019Constipation1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0002019HP:0002019Constipation1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0002019HP:0002019Constipation1COL7A1 CL E G H129489842ORPHA18286912214120120
HP:0002019HP:0002019Constipation1COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0002019HP:0002019Constipation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0002019HP:0002019Constipation1COMT CL E G H1312567ORPHA1155552228116790
HP:0002019HP:0002019Constipation1COQ2 CL E G H27235227510ORPHA13310225223609825
HP:0002019HP:0002019Constipation1COQ2 CL E G H2723598933ORPHA13310225223609825
HP:0002019HP:0002019Constipation1CPOX CL E G H137179273ORPHA1731362321612732
HP:0002019HP:0002019Constipation1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002019HP:0002019Constipation1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0002019HP:0002019Constipation1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0002019HP:0002019Constipation1CTNS CL E G H1497411629ORPHA11604182518606272
HP:0002019HP:0002019Constipation1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA185017748607861
HP:0002019HP:0002019Constipation1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM1591162719107930
HP:0002019HP:0002019Constipation1DDOST CL E G H1650300536ORPHA121062728602202
HP:0002019HP:0002019Constipation1DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM121062728602202
HP:0002019HP:0002019Constipation1DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0002019HP:0002019Constipation1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM11264942770125660
HP:0002019HP:0002019Constipation1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0002019HP:0002019Constipation1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0002019HP:0002019Constipation1DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0002019HP:0002019Constipation1DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0002019HP:0002019Constipation1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA17473146600423
HP:0002019HP:0002019Constipation1EDN3 CL E G H1908897ORPHA1211173178131242
HP:0002019HP:0002019Constipation1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0002019HP:0002019Constipation1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA1211173178131242
HP:0002019HP:0002019Constipation1EDNRB CL E G H1910897ORPHA1701913180131244
HP:0002019HP:0002019Constipation1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA1701913180131244
HP:0002019HP:0002019Constipation1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0002019HP:0002019Constipation1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0002019HP:0002019Constipation1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0002019HP:0002019Constipation1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0002019HP:0002019Constipation1EPCAM CL E G H4072144ORPHA18129311529185535
HP:0002019HP:0002019Constipation1EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM12582753513608210
HP:0002019HP:0002019Constipation1FAN1 CL E G H22909144ORPHA12127329170613534
HP:0002019HP:0002019Constipation1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0002019HP:0002019Constipation1FLII CL E G H2314819ORPHA121533750600362
HP:0002019HP:0002019Constipation1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM127114723754300017
HP:0002019HP:0002019Constipation1FOXE1 CL E G H230495713ORPHA131483806602617
HP:0002019HP:0002019Constipation1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0002019HP:0002019Constipation1FOXP1 CL E G H2708652417ORPHA1762413823605515
HP:0002019HP:0002019Constipation1GABRA3 CL E G H255679102ORPHA182044077305660
HP:0002019HP:0002019Constipation1GABRD CL E G H25631606ORPHA172784084137163
HP:0002019HP:0002019Constipation1GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM1111194232600837
HP:0002019HP:0002019Constipation1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA1111194232600837
HP:0002019HP:0002019Constipation1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM15713317494608803
HP:0002019HP:0002019Constipation1GP1BB CL E G H2812567ORPHA1534044440138720
HP:0002019HP:0002019Constipation1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1393934584138249
HP:0002019HP:0002019Constipation1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0002019HP:0002019Constipation1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0002019HP:0002019Constipation1HESX1 CL E G H8820226307ORPHA127464877601802
HP:0002019HP:0002019Constipation1HIRA CL E G H7290567ORPHA153994916600237
HP:0002019HP:0002019Constipation1HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM1151444921143054
HP:0002019HP:0002019Constipation1HMBS CL E G H314579276ORPHA14232104982609806
HP:0002019HP:0002019Constipation1HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0002019HP:0002019Constipation1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0002019HP:0002019Constipation1HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0002019HP:0002019Constipation1HPSE2 CL E G H604952704ORPHA1154718374613469
HP:0002019HP:0002019Constipation1HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM1154718374613469
HP:0002019HP:0002019Constipation1IGH CL E G H349252417ORPHA11625477146910
HP:0002019HP:0002019Constipation1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM11436835542600502
HP:0002019HP:0002019Constipation1IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0002019HP:0002019Constipation1IYD CL E G H38943495716ORPHA154621071612025
HP:0002019HP:0002019Constipation1JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0002019HP:0002019Constipation1KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0002019HP:0002019Constipation1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0002019HP:0002019Constipation1KCNJ18 CL E G H10013444479102ORPHA1171439080613236
HP:0002019HP:0002019Constipation1KIT CL E G H381544890ORPHA112111046342164920
HP:0002019HP:0002019Constipation1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM112111046342164920
HP:0002019HP:0002019Constipation1KRAS CL E G H3845144ORPHA1452746407190070
HP:0002019HP:0002019Constipation1LHX3 CL E G H8022226307ORPHA1181756595600577
HP:0002019HP:0002019Constipation1LHX4 CL E G H89884226307ORPHA12311621734602146
HP:0002019HP:0002019Constipation1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0002019HP:0002019Constipation1LMNB1 CL E G H400199027ORPHA1351026637150340
HP:0002019HP:0002019Constipation1LRIG2 CL E G H98602704ORPHA165520889608869
HP:0002019HP:0002019Constipation1LRIG2 CL E G H9860615112Urofacial syndrome 2615112C3554520OMIM165520889608869
HP:0002019HP:0002019Constipation1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0002019HP:0002019Constipation1MALT1 CL E G H1089252417ORPHA171496819604860
HP:0002019HP:0002019Constipation1MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0002019HP:0002019Constipation1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19676971154100
HP:0002019HP:0002019Constipation1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0002019HP:0002019Constipation1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105014426990300005
HP:0002019HP:0002019Constipation1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0002019HP:0002019Constipation1MEFV CL E G H4210342ORPHA11895616998608107
HP:0002019HP:0002019Constipation1MLH1 CL E G H4292144ORPHA1120331857127120436
HP:0002019HP:0002019Constipation1MLH3 CL E G H27030144ORPHA1324877128604395
HP:0002019HP:0002019Constipation1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0002019HP:0002019Constipation1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0002019HP:0002019Constipation1MMP1 CL E G H431279408ORPHA18337155120353
HP:0002019HP:0002019Constipation1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM145816618611994
HP:0002019HP:0002019Constipation1MSH2 CL E G H4436144ORPHA1126440967325609309
HP:0002019HP:0002019Constipation1MSH6 CL E G H2956144ORPHA160250967329600678
HP:0002019HP:0002019Constipation1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0002019HP:0002019Constipation1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0002019HP:0002019Constipation1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0002019HP:0002019Constipation1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0002019HP:0002019Constipation1NKX2-1 CL E G H708095713ORPHA114313611825600635
HP:0002019HP:0002019Constipation1NKX2-5 CL E G H148295713ORPHA11122152488600584
HP:0002019HP:0002019Constipation1NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0002019HP:0002019Constipation1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM123797981601828
HP:0002019HP:0002019Constipation1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA13158007602018
HP:0002019HP:0002019Constipation1NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM134510778008600565
HP:0002019HP:0002019Constipation1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0002019HP:0002019Constipation1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0002019HP:0002019Constipation1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0002019HP:0002019Constipation1PAX8 CL E G H784995712ORPHA1511438622167415
HP:0002019HP:0002019Constipation1PAX8 CL E G H784995713ORPHA1511438622167415
HP:0002019HP:0002019Constipation1PAX8 CL E G H784995720ORPHA1511438622167415
HP:0002019HP:0002019Constipation1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0002019HP:0002019Constipation1PCCA CL E G H509535ORPHA11493878653232000
HP:0002019HP:0002019Constipation1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0002019HP:0002019Constipation1PCCB CL E G H509635ORPHA11313018654232050
HP:0002019HP:0002019Constipation1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0002019HP:0002019Constipation1PDGFRA CL E G H515644890ORPHA12812488803173490
HP:0002019HP:0002019Constipation1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM12812488803173490
HP:0002019HP:0002019Constipation1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0002019HP:0002019Constipation1PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1883879143603851
HP:0002019HP:0002019Constipation1PIK3CA CL E G H5290144ORPHA1573798975171834
HP:0002019HP:0002019Constipation1PMS1 CL E G H5378144ORPHA136659121600258
HP:0002019HP:0002019Constipation1PMS2 CL E G H5395144ORPHA136327589122600259
HP:0002019HP:0002019Constipation1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0002019HP:0002019Constipation1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM130011969179174763
HP:0002019HP:0002019Constipation1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM130011969179174763
HP:0002019HP:0002019Constipation1POU1F1 CL E G H5449226307ORPHA146729210173110
HP:0002019HP:0002019Constipation1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0002019HP:0002019Constipation1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM1185939280600923
HP:0002019HP:0002019Constipation1PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0002019HP:0002019Constipation1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11091269449176640
HP:0002019HP:0002019Constipation1PROP1 CL E G H5626226307ORPHA1421509455601538
HP:0002019HP:0002019Constipation1RAI1 CL E G H10743819ORPHA11164049834607642
HP:0002019HP:0002019Constipation1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM11164049834607642
HP:0002019HP:0002019Constipation1RERE CL E G H4731606ORPHA1251619965605226
HP:0002019HP:0002019Constipation1RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143214969967164761
HP:0002019HP:0002019Constipation1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA143214969967164761
HP:0002019HP:0002019Constipation1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0002019HP:0002019Constipation1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0002019HP:0002019Constipation1RREB1 CL E G H6239567ORPHA11217110449602209
HP:0002019HP:0002019Constipation1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA18818210524602218
HP:0002019HP:0002019Constipation1SCN10A CL E G H633646348ORPHA18563810582604427
HP:0002019HP:0002019Constipation1SCN11A CL E G H1128046348ORPHA12045410583604385
HP:0002019HP:0002019Constipation1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12045410583604385
HP:0002019HP:0002019Constipation1SCN9A CL E G H633546348ORPHA1129109210597603415
HP:0002019HP:0002019Constipation1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1129109210597603415
HP:0002019HP:0002019Constipation1SCNN1A CL E G H6337526Acute myeloblastic leukemia type 1ORPHA14917110599600228
HP:0002019HP:0002019Constipation1SCNN1B CL E G H6338526Acute myeloblastic leukemia type 1ORPHA15014510600600760
HP:0002019HP:0002019Constipation1SCNN1G CL E G H6340526Acute myeloblastic leukemia type 1ORPHA12312110602600761
HP:0002019HP:0002019Constipation1SDHA CL E G H638944890ORPHA191127910680600857
HP:0002019HP:0002019Constipation1SDHB CL E G H639044890ORPHA127966710681185470
HP:0002019HP:0002019Constipation1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM127966710681185470
HP:0002019HP:0002019Constipation1SDHC CL E G H639144890ORPHA16241510682602413
HP:0002019HP:0002019Constipation1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM16241510682602413
HP:0002019HP:0002019Constipation1SEC24C CL E G H9632567ORPHA12410705607185
HP:0002019HP:0002019Constipation1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA144210725602645
HP:0002019HP:0002019Constipation1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA1144810726609907
HP:0002019HP:0002019Constipation1SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM123229165614776
HP:0002019HP:0002019Constipation1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1919010889603714
HP:0002019HP:0002019Constipation1SKI CL E G H64971606ORPHA12450210896164780
HP:0002019HP:0002019Constipation1SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM19018410910600839
HP:0002019HP:0002019Constipation1SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM150440710912600968
HP:0002019HP:0002019Constipation1SLC26A4 CL E G H517295713ORPHA15645608818605646
HP:0002019HP:0002019Constipation1SLC26A4 CL E G H517295720ORPHA15645608818605646
HP:0002019HP:0002019Constipation1SLC5A5 CL E G H652895716ORPHA11813811040601843
HP:0002019HP:0002019Constipation1SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0002019HP:0002019Constipation1SLC6A3 CL E G H6531238455ORPHA14625911049126455
HP:0002019HP:0002019Constipation1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM14625911049126455
HP:0002019HP:0002019Constipation1SLC6A8 CL E G H653552503ORPHA113954211055300036
HP:0002019HP:0002019Constipation1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0002019HP:0002019Constipation1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0002019HP:0002019Constipation1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM1611511139603779
HP:0002019HP:0002019Constipation1SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0002019HP:0002019Constipation1SOX10 CL E G H6663897ORPHA115119211190602229
HP:0002019HP:0002019Constipation1SPART CL E G H23111101000ORPHA1718318514607111
HP:0002019HP:0002019Constipation1SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0002019HP:0002019Constipation1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0002019HP:0002019Constipation1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0002019HP:0002019Constipation1TBX1 CL E G H6899567ORPHA18255311592602054
HP:0002019HP:0002019Constipation1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0002019HP:0002019Constipation1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0002019HP:0002019Constipation1TG CL E G H703895716ORPHA117242911764188450
HP:0002019HP:0002019Constipation1TGFBR2 CL E G H7048144ORPHA114857211773190182
HP:0002019HP:0002019Constipation1TH CL E G H7054101150ORPHA17734511782191290
HP:0002019HP:0002019Constipation1THRA CL E G H706797927ORPHA1143411796190120
HP:0002019HP:0002019Constipation1THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0002019HP:0002019Constipation1THRB CL E G H706897927ORPHA117129511799190160
HP:0002019HP:0002019Constipation1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0002019HP:0002019Constipation1TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0002019HP:0002019Constipation1TNXB CL E G H7148285Impossible syndromeORPHA13824411976600985
HP:0002019HP:0002019Constipation1TPO CL E G H717395716ORPHA114725012015606765
HP:0002019HP:0002019Constipation1TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM132412298613879
HP:0002019HP:0002019Constipation1TRHR CL E G H720199832ORPHA174912299188545
HP:0002019HP:0002019Constipation1TSHB CL E G H725290674ORPHA1142512372188540
HP:0002019HP:0002019Constipation1TSHR CL E G H725395720ORPHA116117812373603372
HP:0002019HP:0002019Constipation1TSHR CL E G H725390673ORPHA116117812373603372
HP:0002019HP:0002019Constipation1TSHR CL E G H725395713ORPHA116117812373603372
HP:0002019HP:0002019Constipation1TTR CL E G H727685447ORPHA115124012405176300
HP:0002019HP:0002019Constipation1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0002019HP:0002019Constipation1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM1953813148131222
HP:0002019HP:0002019Constipation1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0002019HP:0002019Constipation1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0002019HP:0002019Constipation1UFD1 CL E G H7353567ORPHA1436812520601754
HP:0002019HP:0002019Constipation1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0002019HP:0002019Constipation1VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM12024015512610132
HP:0002019HP:0002019Constipation1VPS11 CL E G H55823466934ORPHA135414583608549
HP:0002019HP:0002019Constipation1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0002019HP:0002019Constipation1WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0002019HP:0002019Constipation1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002019HP:0002019Constipation0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA064916876606036
HP:0002019HP:0002019Constipation0ATRX CL E G H546847ORPHA0170663886300032
HP:0002019HP:0002019Constipation0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA034716892606037
HP:0002019HP:0002019Constipation0CDC73 CL E G H7957799880ORPHA010452616783607393
HP:0002019HP:0002019Constipation0CDC73 CL E G H79577143ORPHA010452616783607393
HP:0002019HP:0002019Constipation0CISD2 CL E G H4938563463ORPHA042324212611507
HP:0002019HP:0002019Constipation0COL7A1 CL E G H129479409ORPHA08286912214120120
HP:0002019HP:0002019Constipation0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM01915229106615003
HP:0002019HP:0002019Constipation0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA02653883688136350
HP:0002019HP:0002019Constipation0FTL CL E G H2512157846ORPHA064913999134790
HP:0002019HP:0002019Constipation0GLI2 CL E G H273695494ORPHA0883724318165230
HP:0002019HP:0002019Constipation0HESX1 CL E G H882095494ORPHA027464877601802
HP:0002019HP:0002019Constipation0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA027464877601802
HP:0002019HP:0002019Constipation0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM0173729079609132
HP:0002019HP:0002019Constipation0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM01273797132159555
HP:0002019HP:0002019Constipation0KRT14 CL E G H386179396ORPHA01181356416148066
HP:0002019HP:0002019Constipation0KRT5 CL E G H385279396ORPHA01552236442148040
HP:0002019HP:0002019Constipation0LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0002019HP:0002019Constipation0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0002019HP:0002019Constipation0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0002019HP:0002019Constipation0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0002019HP:0002019Constipation0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0002019HP:0002019Constipation0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0002019HP:0002019Constipation0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0002019HP:0002019Constipation0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0002019HP:0002019Constipation0MT-TF CL E G H4558550ORPHA07481590070
HP:0002019HP:0002019Constipation0MT-TH CL E G H4564550ORPHA07487590040
HP:0002019HP:0002019Constipation0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0002019HP:0002019Constipation0MT-TQ CL E G H4572550ORPHA07495590030
HP:0002019HP:0002019Constipation0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0002019HP:0002019Constipation0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0002019HP:0002019Constipation0MT-TW CL E G H4578550ORPHA07501590095
HP:0002019HP:0002019Constipation0OTX2 CL E G H501595494ORPHA078988522600037
HP:0002019HP:0002019Constipation0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA078988522600037
HP:0002019HP:0002019Constipation0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM052014937610271
HP:0002019HP:0002019Constipation0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM01611226031610274
HP:0002019HP:0002019Constipation0POLG CL E G H5428254892ORPHA030011969179174763
HP:0002019HP:0002019Constipation0POLG2 CL E G H11232254892ORPHA0141019180604983
HP:0002019HP:0002019Constipation0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM0141019180604983
HP:0002019HP:0002019Constipation0POU1F1 CL E G H544995494ORPHA046729210173110
HP:0002019HP:0002019Constipation0PPOX CL E G H549879473ORPHA0185939280600923
HP:0002019HP:0002019Constipation0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA0839815836607123
HP:0002019HP:0002019Constipation0PROP1 CL E G H562695494ORPHA0421509455601538
HP:0002019HP:0002019Constipation0PROP1 CL E G H562690695ORPHA0421509455601538
HP:0002019HP:0002019Constipation0RRM2B CL E G H50484254892ORPHA04321617296604712
HP:0002019HP:0002019Constipation0SLC25A4 CL E G H291254892ORPHA01723410990103220
HP:0002019HP:0002019Constipation0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA010510511195184429
HP:0002019HP:0002019Constipation0SOX3 CL E G H665890695ORPHA02821811199313430
HP:0002019HP:0002019Constipation0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA02821811199313430
HP:0002019HP:0002019Constipation0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0002019HP:0002019Constipation0TWNK CL E G H56652254892ORPHA0831941160606075
HP:0002019HP:0002019Constipation0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM0255413478608047
HP:0002019HP:0002019Constipation0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM0257717327615049
HP:0002019HP:0002019Constipation0WFS1 CL E G H74663463ORPHA039371412762606201
HP:0002019HP:0002019Constipation0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM029861314881605802
HP:0002019HP:0002019Constipation1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA064916876606036
HP:0002019HP:0002019Constipation1ATRX CL E G H546847ORPHA0170663886300032
HP:0002019HP:0002019Constipation1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA034716892606037
HP:0002019HP:0002019Constipation1CDC73 CL E G H7957799880ORPHA010452616783607393
HP:0002019HP:0002019Constipation1CDC73 CL E G H79577143ORPHA010452616783607393
HP:0002019HP:0002019Constipation1CISD2 CL E G H4938563463ORPHA042324212611507
HP:0002019HP:0002019Constipation1COL7A1 CL E G H129479409ORPHA08286912214120120
HP:0002019HP:0002019Constipation1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM01915229106615003
HP:0002019HP:0002019Constipation1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA02653883688136350
HP:0002019HP:0002019Constipation1FTL CL E G H2512157846ORPHA064913999134790
HP:0002019HP:0002019Constipation1GLI2 CL E G H273695494ORPHA0883724318165230
HP:0002019HP:0002019Constipation1HESX1 CL E G H882095494ORPHA027464877601802
HP:0002019HP:0002019Constipation1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA027464877601802
HP:0002019HP:0002019Constipation1KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM0173729079609132
HP:0002019HP:0002019Constipation1KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM01273797132159555
HP:0002019HP:0002019Constipation1KRT14 CL E G H386179396ORPHA01181356416148066
HP:0002019HP:0002019Constipation1KRT5 CL E G H385279396ORPHA01552236442148040
HP:0002019HP:0002019Constipation1LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0002019HP:0002019Constipation1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0002019HP:0002019Constipation1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0002019HP:0002019Constipation1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0002019HP:0002019Constipation1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0002019HP:0002019Constipation1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0002019HP:0002019Constipation1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0002019HP:0002019Constipation1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0002019HP:0002019Constipation1MT-TF CL E G H4558550ORPHA07481590070
HP:0002019HP:0002019Constipation1MT-TH CL E G H4564550ORPHA07487590040
HP:0002019HP:0002019Constipation1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0002019HP:0002019Constipation1MT-TQ CL E G H4572550ORPHA07495590030
HP:0002019HP:0002019Constipation1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0002019HP:0002019Constipation1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0002019HP:0002019Constipation1MT-TW CL E G H4578550ORPHA07501590095
HP:0002019HP:0002019Constipation1OTX2 CL E G H501595494ORPHA078988522600037
HP:0002019HP:0002019Constipation1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA078988522600037
HP:0002019HP:0002019Constipation1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM052014937610271
HP:0002019HP:0002019Constipation1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM01611226031610274
HP:0002019HP:0002019Constipation1POLG CL E G H5428254892ORPHA030011969179174763
HP:0002019HP:0002019Constipation1POLG2 CL E G H11232254892ORPHA0141019180604983
HP:0002019HP:0002019Constipation1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM0141019180604983
HP:0002019HP:0002019Constipation1POU1F1 CL E G H544995494ORPHA046729210173110
HP:0002019HP:0002019Constipation1PPOX CL E G H549879473ORPHA0185939280600923
HP:0002019HP:0002019Constipation1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA0839815836607123
HP:0002019HP:0002019Constipation1PROP1 CL E G H562695494ORPHA0421509455601538
HP:0002019HP:0002019Constipation1PROP1 CL E G H562690695ORPHA0421509455601538
HP:0002019HP:0002019Constipation1RRM2B CL E G H50484254892ORPHA04321617296604712
HP:0002019HP:0002019Constipation1SLC25A4 CL E G H291254892ORPHA01723410990103220
HP:0002019HP:0002019Constipation1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA010510511195184429
HP:0002019HP:0002019Constipation1SOX3 CL E G H665890695ORPHA02821811199313430
HP:0002019HP:0002019Constipation1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA02821811199313430
HP:0002019HP:0002019Constipation1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0002019HP:0002019Constipation1TWNK CL E G H56652254892ORPHA0831941160606075
HP:0002019HP:0002019Constipation1UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM0255413478608047
HP:0002019HP:0002019Constipation1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM0257717327615049
HP:0002019HP:0002019Constipation1WFS1 CL E G H74663463ORPHA039371412762606201
HP:0002019HP:0002019Constipation1ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM029861314881605802


Genes (243) :ABL1 ACTG2 ALAD ALPL AQP2 ARID2 ARNT2 ARVCF ASCL1 ATRX AVPR2 B2M BAZ1B BCL10 BIRC3 BRAF BRCA1 CACNA1S CAMK2B CAMTA1 CASR CAVIN1 CD96 CDC73 CDKL5 CHRM3 CHST14 CISD2 CLIP2 COL7A1 COMT COQ2 COX1 COX2 COX3 CPOX CREBBP CSNK2A1 CTNS DACT1 DDC DDHD2 DDOST DEAF1 DES DHCR7 DNAJC13 DPF2 DUOX2 DUOXA2 ECE1 EDN3 EDNRB EIF4G1 ELN ELP1 EP300 EPCAM EXT2 FAN1 FGF12 FGFR1 FLI1 FLII FLNA FOXE1 FOXG1 FOXP1 FTL GABRA3 GABRD GBA GDNF GIGYF2 GJC2 GLI2 GP1BB GRIN1 GTF2I GTF2IRD1 HESX1 HIRA HIVEP2 HMBS HNRNPH2 HNRNPK HPSE2 IGH IGHMBP2 IQSEC2 IYD JMJD1C KCNAB2 KCNJ1 KCNJ18 KDM1A KIT KMT2A KRAS KRT14 KRT5 LHX3 LHX4 LIMK1 LMNB1 LRIG2 LRRK2 MAGEL2 MALT1 MBD5 MDH2 MECP2 MED12 MEFV MLH1 MLH3 MLXIPL MLYCD MMP1 MNX1 MRPS34 MSH2 MSH6 MT-TE MT-TK MT-TL1 NALCN ND1 ND4 ND5 ND6 NKX2-1 NKX2-5 NR4A2 NRTN NRXN1 OCRL OTUD6B OTX2 PACS1 PAX8 PCCA PCCB PDGFRA PEX16 PHOX2B PIGS PIGV PIK3CA PMS1 PMS2 POGZ POLG POLG2 POU1F1 PPM1D PPOX PRDM16 PRNP PROKR2 PROP1 RAI1 RERE RET RFC2 RREB1 RRM2B SALL1 SCN10A SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHB SDHC SEC24C SEMA3C SEMA3D SH2B1 SIK3 SIX3 SKI SLC12A1 SLC12A3 SLC25A4 SLC26A4 SLC5A5 SLC6A3 SLC6A8 SMO SMPD1 SNCA SNCAIP SOX10 SOX2 SOX3 SPART SRCAP TAF1 TBCD TBL2 TBX1 TCF4 TG TGFBR2 TH THRA THRB TLK2 TNFRSF1A TNXB TPO TRH TRHR TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNW TSHB TSHR TTR TWNK TYMP UBE3A UBE3B UFC1 UFD1 UNC80 VANGL1 VPS11 VPS35 WAC WDR26 WFS1 ZEB2 ZSWIM6

Diseases (172) :617602 155310 100924 241500 223 125800 617808 3157 567 209880 847 301040 309580 304800 904 52417 115150 168829 79102 617799 314647 614756 239200 613327 1308 143 99880 300672 2970 601776 3463 79409 79408 89842 226600 98933 227510 550 79273 121300 180849 617062 411629 857 608643 615033 300536 614507 819 601419 270400 618027 95716 388 897 194050 223900 144 616682 2308 300321 95713 613454 157846 1606 613206 95494 614254 226307 616977 79276 176000 300986 616580 2704 236730 604320 241200 616728 44890 606764 605130 79396 99027 615112 615547 228402 617339 300260 312750 305450 342 248360 617664 615419 95712 168600 614325 534 309000 615009 95720 218700 35 606054 614877 618143 239300 616364 254892 603041 613662 610131 617450 79473 176200 600072 90695 182290 162300 46348 615548 133020 526 618162 157170 601678 263800 274400 238455 613135 52503 300352 257200 163746 101000 2044 300966 617193 2896 610954 101150 97927 614450 618050 32960 285 275120 99832 225 90674 90673 85447 105210 105830 244450 618076 616801 600145 466934 616683 616708 617616 235730 617865 314652 411602 617166 176450 505237 261222 601707
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.