Human Phenotype Ontology 
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Abdominal symptom (HP:0011458)help
Parent Node:
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Constipation (HP:0002019)help
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Chronic constipation (HP:0012450)help
Term ID: 12450
Name: Chronic constipation
Synonym: Chronic constipation; Infrequent bowel movements
Definition: Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Comments:
Reference: HP:0012450
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcute constipation (HP:0012451) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012450HP:0012450Chronic constipation0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040284 - Very rare9
HP:0012450HP:0012450Chronic constipation0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0012450HP:0012450Chronic constipation0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0012450HP:0012450Chronic constipation0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0012450HP:0012450Chronic constipation0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0012450HP:0012450Chronic constipation0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0012450HP:0012450Chronic constipation0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0012450HP:0012450Chronic constipation0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0012450HP:0012450Chronic constipation0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0012450HP:0012450Chronic constipation0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0012450HP:0012450Chronic constipation0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent660
HP:0012450HP:0012450Chronic constipation0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent325
HP:0012450HP:0012450Chronic constipation0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0012450HP:0012450Chronic constipation0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR62
HP:0012450HP:0012450Chronic constipation0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0012450HP:0012450Chronic constipation0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0012450HP:0012450Chronic constipation0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0012450HP:0012450Chronic constipation0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0012450HP:0012450Chronic constipation0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome.172
HP:0012450HP:0012450Chronic constipation0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0012450HP:0012450Chronic constipation0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0012450HP:0012450Chronic constipation0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0012450HP:0012450Chronic constipation0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012450HP:0012450Chronic constipation0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0012450HP:0012450Chronic constipation0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0012450HP:0012450Chronic constipation0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0012450HP:0012450Chronic constipation0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0012450HP:0012450Chronic constipation0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012450HP:0012450Chronic constipation0GRIA1 CL E G H28904571OMIM:6199313
HP:0012450HP:0012450Chronic constipation0H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0012450HP:0012450Chronic constipation0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012450HP:0012450Chronic constipation0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0012450HP:0012450Chronic constipation0H4C5 CL E G H83674790OMIM:619950
HP:0012450HP:0012450Chronic constipation0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0012450HP:0012450Chronic constipation0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0012450HP:0012450Chronic constipation0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012450HP:0012450Chronic constipation0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0012450HP:0012450Chronic constipation0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0012450HP:0012450Chronic constipation0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0012450HP:0012450Chronic constipation0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0012450HP:0012450Chronic constipation0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0012450HP:0012450Chronic constipation0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0012450HP:0012450Chronic constipation0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0012450HP:0012450Chronic constipation0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0012450HP:0012450Chronic constipation0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0012450HP:0012450Chronic constipation0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0012450HP:0012450Chronic constipation0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0012450HP:0012450Chronic constipation0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0012450HP:0012450Chronic constipation0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0012450HP:0012450Chronic constipation0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome.1
HP:0012450HP:0012450Chronic constipation0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency.80
HP:0012450HP:0012450Chronic constipation0MNX1 CL E G H31104979OMIM:176450Currarino syndrome.17
HP:0012450HP:0012450Chronic constipation0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0012450HP:0012450Chronic constipation0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012450HP:0012450Chronic constipation0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0012450HP:0012450Chronic constipation0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012450HP:0012450Chronic constipation0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0012450HP:0012450Chronic constipation0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0012450HP:0012450Chronic constipation0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0012450HP:0012450Chronic constipation0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0012450HP:0012450Chronic constipation0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0012450HP:0012450Chronic constipation0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0012450HP:0012450Chronic constipation0PAK2 CL E G H50628591OMIM:618458
HP:0012450HP:0012450Chronic constipation0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0012450HP:0012450Chronic constipation0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0012450HP:0012450Chronic constipation0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0012450HP:0012450Chronic constipation0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0012450HP:0012450Chronic constipation0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0012450HP:0012450Chronic constipation0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012450HP:0012450Chronic constipation0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0012450HP:0012450Chronic constipation0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0012450HP:0012450Chronic constipation0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0012450HP:0012450Chronic constipation0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0012450HP:0012450Chronic constipation0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0012450HP:0012450Chronic constipation0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0012450HP:0012450Chronic constipation0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0012450HP:0012450Chronic constipation0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0012450HP:0012450Chronic constipation0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0012450HP:0012450Chronic constipation0SLC38A3 CL E G H1099118044OMIM:619881
HP:0012450HP:0012450Chronic constipation0SMO CL E G H660811119OMIM:601707Curry-Jones syndromeHP:0040283 - Occasional22
HP:0012450HP:0012450Chronic constipation0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0012450HP:0012450Chronic constipation0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome19
HP:0012450HP:0012450Chronic constipation0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0012450HP:0012450Chronic constipation0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012450HP:0012450Chronic constipation0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0012450HP:0012450Chronic constipation0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012450HP:0012450Chronic constipation0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0012450HP:0012450Chronic constipation0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012450HP:0012450Chronic constipation0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0012450HP:0012450Chronic constipation0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0012450HP:0012450Chronic constipation0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0012450HP:0012450Chronic constipation0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0012450HP:0012450Chronic constipation0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0012450HP:0012450Chronic constipation0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0012450HP:0012450Chronic constipation0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0012450HP:0012450Chronic constipation0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012450HP:0012450Chronic constipation0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0012450HP:0012450Chronic constipation0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0012450HP:0012450Chronic constipation0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0012450HP:0012450Chronic constipation0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0012450HP:0012450Chronic constipation0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012450HP:0012450Chronic constipation0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643


Genes (98) :ADAT3 ADNP AFF3 ARSB ASH1L BICRA CAMK2B CAMTA1 CNP COL1A1 COL5A1 COL5A2 CREBBP DDOST DNAJC13 EIF4G1 EIF5A ELF4 ELN EP300 ERBB2 FAR1 FBXO28 FGF12 GATAD2B GBA1 GIGYF2 GNB2 GRIA1 H1-4 H3-3A H3-3B H4C5 HIVEP2 HNRNPH2 HS2ST1 IGBP1 IPO8 KMT5B LBX1 LMNB1 LMNB2 LRRK2 MADD MAGEL2 MECP2 MED13 MEFV MLXIPL MLYCD MNX1 MOGS MSL3 MYH11 MYO1H NGLY1 NSD2 ODC1 OPA1 OTUD6B PAK2 PCGF2 PHOX2B POGZ POU4F1 PPP1CB PPP1R21 PPP2R1A PRKG2 PSMB8 RAI1 RORA SETD1A SETD5 SH2B1 SLC12A2 SLC38A3 SMO SNCA SPATA5 SPOP SUPT16H TANC2 TAOK1 TBCD TFE3 TMCO1 TNFRSF1A TRIM8 TRIO UBE2A UGP2 UPF3B USP7 USP9X VPS35 WASF1 ZNF292

Diseases (93) :ORPHA:363528 ORPHA:404448 OMIM:619297 OMIM:253200 OMIM:617796 OMIM:619325 OMIM:617799 OMIM:614756 OMIM:619071 ORPHA:287 OMIM:618332 OMIM:614507 ORPHA:411602 OMIM:619376 OMIM:301074 OMIM:194050 OMIM:618333 OMIM:619465 OMIM:619338 OMIM:619777 OMIM:617166 ORPHA:363686 OMIM:619503 OMIM:619931 OMIM:617537 OMIM:619720 OMIM:619721 OMIM:619950 OMIM:616977 OMIM:300986 OMIM:619194 OMIM:300472 OMIM:619472 OMIM:617788 OMIM:619483 OMIM:619179 OMIM:619180 OMIM:619004 OMIM:619005 ORPHA:398069 OMIM:300260 OMIM:618009 OMIM:249100 OMIM:248360 OMIM:176450 ORPHA:79330 OMIM:301032 OMIM:619350 OMIM:619482 ORPHA:404454 OMIM:619695 ORPHA:544488 OMIM:210000 ORPHA:505237 OMIM:617452 OMIM:618458 OMIM:618371 OMIM:209880 ORPHA:468678 OMIM:619352 OMIM:617506 OMIM:619383 OMIM:616362 OMIM:619636 OMIM:256040 ORPHA:477817 OMIM:618060 OMIM:619056 ORPHA:404440 ORPHA:261222 OMIM:619080 OMIM:619881 OMIM:601707 OMIM:616577 OMIM:618829 OMIM:619480 OMIM:618906 OMIM:619575 ORPHA:496641 OMIM:301066 OMIM:213980 OMIM:142680 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 ORPHA:163956 OMIM:618744 OMIM:300676 ORPHA:500055 OMIM:300919 OMIM:618707 OMIM:619188
 

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