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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002019HP:0002019Constipation0ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent135
HP:0002019HP:0002019Constipation0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0002019HP:0002019Constipation0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 123
HP:0002019HP:0002019Constipation0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0002019HP:0002019Constipation0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0002019HP:0002019Constipation0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0002019HP:0002019Constipation0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0002019HP:0002019Constipation0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002019HP:0002019Constipation0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040282 - Frequent6
HP:0002019HP:0002019Constipation0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0002019HP:0002019Constipation0ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0002019HP:0002019Constipation0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0002019HP:0002019Constipation0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0002019HP:0002019Constipation0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040282 - Frequent3179
HP:0002019HP:0002019Constipation0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 2.75
HP:0002019HP:0002019Constipation0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent75
HP:0002019HP:0002019Constipation0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0002019HP:0002019Constipation0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002019HP:0002019Constipation0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002019HP:0002019Constipation0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0002019HP:0002019Constipation0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0002019HP:0002019Constipation0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0002019HP:0002019Constipation0ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent192
HP:0002019HP:0002019Constipation0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0002019HP:0002019Constipation0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0002019HP:0002019Constipation0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0002019HP:0002019Constipation0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0002019HP:0002019Constipation0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0002019HP:0002019Constipation0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent67
HP:0002019HP:0002019Constipation0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040282 - Frequent18
HP:0002019HP:0002019Constipation0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002019HP:0002019Constipation0BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040281 - Very frequent385
HP:0002019HP:0002019Constipation0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0002019HP:0002019Constipation0BRCA1 CL E G H6721100ORPHA:168829Primary peritoneal carcinomaHP:0040281 - Very frequent5769
HP:0002019HP:0002019Constipation0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0002019HP:0002019Constipation0CACNA1C CL E G H7751390OMIM:620029572
HP:0002019HP:0002019Constipation0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent247
HP:0002019HP:0002019Constipation0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54.
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0002019HP:0002019Constipation0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0002019HP:0002019Constipation0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0002019HP:0002019Constipation0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0002019HP:0002019Constipation0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0002019HP:0002019Constipation0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0002019HP:0002019Constipation0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0002019HP:0002019Constipation0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0002019HP:0002019Constipation0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002019HP:0002019Constipation0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0002019HP:0002019Constipation0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0002019HP:0002019Constipation0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0002019HP:0002019Constipation0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0002019HP:0002019Constipation0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0002019HP:0002019Constipation0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002019HP:0002019Constipation0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0002019HP:0002019Constipation0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002019HP:0002019Constipation0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002019HP:0002019Constipation0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0002019HP:0002019Constipation0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0002019HP:0002019Constipation0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0002019HP:0002019Constipation0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040282 - Frequent4
HP:0002019HP:0002019Constipation0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0002019HP:0002019Constipation0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0002019HP:0002019Constipation0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0002019HP:0002019Constipation0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0002019HP:0002019Constipation0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002019HP:0002019Constipation0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0002019HP:0002019Constipation0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0002019HP:0002019Constipation0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0002019HP:0002019Constipation0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0002019HP:0002019Constipation0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0002019HP:0002019Constipation0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0002019HP:0002019Constipation0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002019HP:0002019Constipation0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002019HP:0002019Constipation0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0CPOX CL E G H13712321OMIM:121300Coproporphyria.72
HP:0002019HP:0002019Constipation0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0002019HP:0002019Constipation0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002019HP:0002019Constipation0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0002019HP:0002019Constipation0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0002019HP:0002019Constipation0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0002019HP:0002019Constipation0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040281 - Very frequent178
HP:0002019HP:0002019Constipation0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0002019HP:0002019Constipation0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0002019HP:0002019Constipation0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002019HP:0002019Constipation0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessiveHP:0040283 - Occasional29
HP:0002019HP:0002019Constipation0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0002019HP:0002019Constipation0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0002019HP:0002019Constipation0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040281 - Very frequent33
HP:0002019HP:0002019Constipation0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0002019HP:0002019Constipation0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0002019HP:0002019Constipation0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002019HP:0002019Constipation0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0002019HP:0002019Constipation0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002019HP:0002019Constipation0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0002019HP:0002019Constipation0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002019HP:0002019Constipation0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002019HP:0002019Constipation0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002019HP:0002019Constipation0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0002019HP:0002019Constipation0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002019HP:0002019Constipation0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002019HP:0002019Constipation0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0002019HP:0002019Constipation0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002019HP:0002019Constipation0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0002019HP:0002019Constipation0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0002019HP:0002019Constipation0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0002019HP:0002019Constipation0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent121
HP:0002019HP:0002019Constipation0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040283 - Occasional121
HP:0002019HP:0002019Constipation0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent11
HP:0002019HP:0002019Constipation0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0002019HP:0002019Constipation0ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent13
HP:0002019HP:0002019Constipation0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0002019HP:0002019Constipation0EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent67
HP:0002019HP:0002019Constipation0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent67
HP:0002019HP:0002019Constipation0EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent55
HP:0002019HP:0002019Constipation0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent55
HP:0002019HP:0002019Constipation0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002019HP:0002019Constipation0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0002019HP:0002019Constipation0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0002019HP:0002019Constipation0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0002019HP:0002019Constipation0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0002019HP:0002019Constipation0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0002019HP:0002019Constipation0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0002019HP:0002019Constipation0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002019HP:0002019Constipation0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0002019HP:0002019Constipation0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040281 - Very frequent170
HP:0002019HP:0002019Constipation0ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent77
HP:0002019HP:0002019Constipation0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0002019HP:0002019Constipation0ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent12
HP:0002019HP:0002019Constipation0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0002019HP:0002019Constipation0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0002019HP:0002019Constipation0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040281 - Very frequent15
HP:0002019HP:0002019Constipation0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002019HP:0002019Constipation0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002019HP:0002019Constipation0FBXW7 CL E G H5529416712OMIM:62001222
HP:0002019HP:0002019Constipation0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0002019HP:0002019Constipation0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 473
HP:0002019HP:0002019Constipation0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002019HP:0002019Constipation0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002019HP:0002019Constipation0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0002019HP:0002019Constipation0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002019HP:0002019Constipation0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002019HP:0002019Constipation0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0002019HP:0002019Constipation0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002019HP:0002019Constipation0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0002019HP:0002019Constipation0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0002019HP:0002019Constipation0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0FLNA CL E G H23163754OMIM:300321Fg syndrome 2493
HP:0002019HP:0002019Constipation0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040281 - Very frequent9
HP:0002019HP:0002019Constipation0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0002019HP:0002019Constipation0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002019HP:0002019Constipation0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0002019HP:0002019Constipation0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002019HP:0002019Constipation0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002019HP:0002019Constipation0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0002019HP:0002019Constipation0FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040282 - Frequent184
HP:0002019HP:0002019Constipation0FRMD5 CL E G H8497828214OMIM:620094
HP:0002019HP:0002019Constipation0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0002019HP:0002019Constipation0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0002019HP:0002019Constipation0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002019HP:0002019Constipation0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0002019HP:0002019Constipation0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002019HP:0002019Constipation0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002019HP:0002019Constipation0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0002019HP:0002019Constipation0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0002019HP:0002019Constipation0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0002019HP:0002019Constipation0GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent59
HP:0002019HP:0002019Constipation0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0002019HP:0002019Constipation0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessiveHP:0040282 - Frequent37
HP:0002019HP:0002019Constipation0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002019HP:0002019Constipation0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional173
HP:0002019HP:0002019Constipation0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0002019HP:0002019Constipation0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002019HP:0002019Constipation0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002019HP:0002019Constipation0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0002019HP:0002019Constipation0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002019HP:0002019Constipation0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0002019HP:0002019Constipation0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0002019HP:0002019Constipation0GRIA1 CL E G H28904571OMIM:6199313
HP:0002019HP:0002019Constipation0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0002019HP:0002019Constipation0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0002019HP:0002019Constipation0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002019HP:0002019Constipation0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002019HP:0002019Constipation0H4C5 CL E G H83674790OMIM:619950
HP:0002019HP:0002019Constipation0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional21
HP:0002019HP:0002019Constipation0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0002019HP:0002019Constipation0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0002019HP:0002019Constipation0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002019HP:0002019Constipation0HFE CL E G H30774886OMIM:176200Porphyria variegata.38
HP:0002019HP:0002019Constipation0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0002019HP:0002019Constipation0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0002019HP:0002019Constipation0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040282 - Frequent81
HP:0002019HP:0002019Constipation0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0002019HP:0002019Constipation0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0002019HP:0002019Constipation0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0002019HP:0002019Constipation0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0002019HP:0002019Constipation0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0002019HP:0002019Constipation0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndromeHP:0040282 - Frequent9
HP:0002019HP:0002019Constipation0HPSE2 CL E G H6049518374OMIM:236730Urofacial syndrome.9
HP:0002019HP:0002019Constipation0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002019HP:0002019Constipation0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0002019HP:0002019Constipation0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0002019HP:0002019Constipation0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0002019HP:0002019Constipation0IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040282 - Frequent7
HP:0002019HP:0002019Constipation0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0002019HP:0002019Constipation0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002019HP:0002019Constipation0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0002019HP:0002019Constipation0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent130
HP:0002019HP:0002019Constipation0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0002019HP:0002019Constipation0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0002019HP:0002019Constipation0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0002019HP:0002019Constipation0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0002019HP:0002019Constipation0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent10
HP:0002019HP:0002019Constipation0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0002019HP:0002019Constipation0KIT CL E G H38156342OMIM:606764Gastrointestinal stromal tumor.327
HP:0002019HP:0002019Constipation0KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent327
HP:0002019HP:0002019Constipation0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0002019HP:0002019Constipation0KMT2B CL E G H975715840OMIM:61993411
HP:0002019HP:0002019Constipation0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0002019HP:0002019Constipation0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040281 - Very frequent196
HP:0002019HP:0002019Constipation0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0002019HP:0002019Constipation0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0002019HP:0002019Constipation0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0002019HP:0002019Constipation0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002019HP:0002019Constipation0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0002019HP:0002019Constipation0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional43
HP:0002019HP:0002019Constipation0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0002019HP:0002019Constipation0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002019HP:0002019Constipation0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0002019HP:0002019Constipation0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002019HP:0002019Constipation0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0002019HP:0002019Constipation0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0002019HP:0002019Constipation0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040282 - Frequent165
HP:0002019HP:0002019Constipation0LRIG2 CL E G H986020889ORPHA:2704Ochoa syndromeHP:0040282 - Frequent5
HP:0002019HP:0002019Constipation0LRIG2 CL E G H986020889OMIM:615112Urofacial syndrome 2.5
HP:0002019HP:0002019Constipation0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0002019HP:0002019Constipation0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0002019HP:0002019Constipation0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002019HP:0002019Constipation0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0002019HP:0002019Constipation0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0002019HP:0002019Constipation0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0002019HP:0002019Constipation0MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040282 - Frequent6
HP:0002019HP:0002019Constipation0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0002019HP:0002019Constipation0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0002019HP:0002019Constipation0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0002019HP:0002019Constipation0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent94
HP:0002019HP:0002019Constipation0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0002019HP:0002019Constipation0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002019HP:0002019Constipation0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002019HP:0002019Constipation0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0002019HP:0002019Constipation0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0002019HP:0002019Constipation0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0002019HP:0002019Constipation0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002019HP:0002019Constipation0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0002019HP:0002019Constipation0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0002019HP:0002019Constipation0MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040281 - Very frequent281
HP:0002019HP:0002019Constipation0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002019HP:0002019Constipation0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0002019HP:0002019Constipation0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent91
HP:0002019HP:0002019Constipation0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040281 - Very frequent1819
HP:0002019HP:0002019Constipation0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040281 - Very frequent131
HP:0002019HP:0002019Constipation0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0002019HP:0002019Constipation0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency.80
HP:0002019HP:0002019Constipation0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0002019HP:0002019Constipation0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0MNX1 CL E G H31104979OMIM:176450Currarino syndrome17
HP:0002019HP:0002019Constipation0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0002019HP:0002019Constipation0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent26
HP:0002019HP:0002019Constipation0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0002019HP:0002019Constipation0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040281 - Very frequent2162
HP:0002019HP:0002019Constipation0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040281 - Very frequent2232
HP:0002019HP:0002019Constipation0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002019HP:0002019Constipation0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002019HP:0002019Constipation0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002019HP:0002019Constipation0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0002019HP:0002019Constipation0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0002019HP:0002019Constipation0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0002019HP:0002019Constipation0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0002019HP:0002019Constipation0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0002019HP:0002019Constipation0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0002019HP:0002019Constipation0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002019HP:0002019Constipation0NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040281 - Very frequent51
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040281 - Very frequent90
HP:0002019HP:0002019Constipation0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent90
HP:0002019HP:0002019Constipation0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent13
HP:0002019HP:0002019Constipation0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002019HP:0002019Constipation0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0002019HP:0002019Constipation0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002019HP:0002019Constipation0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002019HP:0002019Constipation0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0002019HP:0002019Constipation0NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent4
HP:0002019HP:0002019Constipation0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0002019HP:0002019Constipation0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0002019HP:0002019Constipation0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0002019HP:0002019Constipation0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0002019HP:0002019Constipation0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0002019HP:0002019Constipation0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0002019HP:0002019Constipation0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0002019HP:0002019Constipation0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002019HP:0002019Constipation0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0002019HP:0002019Constipation0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0002019HP:0002019Constipation0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional41
HP:0002019HP:0002019Constipation0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0002019HP:0002019Constipation0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0002019HP:0002019Constipation0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0002019HP:0002019Constipation0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0002019HP:0002019Constipation0PAK2 CL E G H50628591OMIM:618458
HP:0002019HP:0002019Constipation0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0002019HP:0002019Constipation0PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040281 - Very frequent63
HP:0002019HP:0002019Constipation0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0002019HP:0002019Constipation0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent63
HP:0002019HP:0002019Constipation0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent63
HP:0002019HP:0002019Constipation0PCCA CL E G H50958653ORPHA:35Propionic acidemiaHP:0040281 - Very frequent96
HP:0002019HP:0002019Constipation0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0002019HP:0002019Constipation0PCCB CL E G H50968654ORPHA:35Propionic acidemiaHP:0040281 - Very frequent92
HP:0002019HP:0002019Constipation0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0002019HP:0002019Constipation0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0002019HP:0002019Constipation0PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent337
HP:0002019HP:0002019Constipation0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0002019HP:0002019Constipation0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0002019HP:0002019Constipation0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0002019HP:0002019Constipation0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002019HP:0002019Constipation0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0002019HP:0002019Constipation0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040281 - Very frequent162
HP:0002019HP:0002019Constipation0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0002019HP:0002019Constipation0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0002019HP:0002019Constipation0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040281 - Very frequent56
HP:0002019HP:0002019Constipation0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040281 - Very frequent1121
HP:0002019HP:0002019Constipation0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0002019HP:0002019Constipation0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0002019HP:0002019Constipation0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0002019HP:0002019Constipation0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002019HP:0002019Constipation0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0002019HP:0002019Constipation0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0002019HP:0002019Constipation0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002019HP:0002019Constipation0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4HP:0040283 - Occasional45
HP:0002019HP:0002019Constipation0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0002019HP:0002019Constipation0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040284 - Very rare76
HP:0002019HP:0002019Constipation0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional36
HP:0002019HP:0002019Constipation0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0002019HP:0002019Constipation0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002019HP:0002019Constipation0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0002019HP:0002019Constipation0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040282 - Frequent41
HP:0002019HP:0002019Constipation0PPOX CL E G H54989280OMIM:176200Porphyria variegata.41
HP:0002019HP:0002019Constipation0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0002019HP:0002019Constipation0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002019HP:0002019Constipation0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0002019HP:0002019Constipation0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0002019HP:0002019Constipation0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002019HP:0002019Constipation0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0002019HP:0002019Constipation0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0002019HP:0002019Constipation0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0002019HP:0002019Constipation0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional54
HP:0002019HP:0002019Constipation0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0002019HP:0002019Constipation0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional54
HP:0002019HP:0002019Constipation0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0002019HP:0002019Constipation0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0002019HP:0002019Constipation0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0002019HP:0002019Constipation0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0002019HP:0002019Constipation0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0002019HP:0002019Constipation0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0002019HP:0002019Constipation0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0002019HP:0002019Constipation0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0002019HP:0002019Constipation0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0002019HP:0002019Constipation0RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent572
HP:0002019HP:0002019Constipation0RET CL E G H59799967OMIM:142623Hirschsprung disease, susceptibility to, 1.572
HP:0002019HP:0002019Constipation0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0002019HP:0002019Constipation0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0002019HP:0002019Constipation0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0002019HP:0002019Constipation0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040281 - Very frequent1
HP:0002019HP:0002019Constipation0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002019HP:0002019Constipation0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0002019HP:0002019Constipation0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002019HP:0002019Constipation0SCN10A CL E G H633610582ORPHA:46348Paroxysmal extreme pain disorderHP:0040282 - Frequent146
HP:0002019HP:0002019Constipation0SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII.19
HP:0002019HP:0002019Constipation0SCN11A CL E G H1128010583ORPHA:46348Paroxysmal extreme pain disorderHP:0040282 - Frequent19
HP:0002019HP:0002019Constipation0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary.318
HP:0002019HP:0002019Constipation0SCN9A CL E G H633510597ORPHA:46348Paroxysmal extreme pain disorderHP:0040282 - Frequent318
HP:0002019HP:0002019Constipation0SCNN1A CL E G H633710599ORPHA:526Liddle syndromeHP:0040281 - Very frequent67
HP:0002019HP:0002019Constipation0SCNN1B CL E G H633810600ORPHA:526Liddle syndromeHP:0040281 - Very frequent61
HP:0002019HP:0002019Constipation0SCNN1G CL E G H634010602ORPHA:526Liddle syndromeHP:0040281 - Very frequent57
HP:0002019HP:0002019Constipation0SDHA CL E G H638910680ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent304
HP:0002019HP:0002019Constipation0SDHB CL E G H639010681OMIM:606764Gastrointestinal stromal tumor.237
HP:0002019HP:0002019Constipation0SDHB CL E G H639010681ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent237
HP:0002019HP:0002019Constipation0SDHC CL E G H639110682OMIM:606764Gastrointestinal stromal tumor.147
HP:0002019HP:0002019Constipation0SDHC CL E G H639110682ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent147
HP:0002019HP:0002019Constipation0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent1
HP:0002019HP:0002019Constipation0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent2
HP:0002019HP:0002019Constipation0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040281 - Very frequent48
HP:0002019HP:0002019Constipation0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0002019HP:0002019Constipation0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0002019HP:0002019Constipation0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0002019HP:0002019Constipation0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0002019HP:0002019Constipation0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0002019HP:0002019Constipation0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0002019HP:0002019Constipation0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0002019HP:0002019Constipation0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0002019HP:0002019Constipation0SHQ1 CL E G H5516425543OMIM:619922
HP:0002019HP:0002019Constipation0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0002019HP:0002019Constipation0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0002019HP:0002019Constipation0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0002019HP:0002019Constipation0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0002019HP:0002019Constipation0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0002019HP:0002019Constipation0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0002019HP:0002019Constipation0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0002019HP:0002019Constipation0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0002019HP:0002019Constipation0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0002019HP:0002019Constipation0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040281 - Very frequent274
HP:0002019HP:0002019Constipation0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent274
HP:0002019HP:0002019Constipation0SLC38A3 CL E G H1099118044OMIM:619881
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent59
HP:0002019HP:0002019Constipation0SLC5A5 CL E G H652811040OMIM:274400Thyroid hormonogenesis, genetic defect in, 1.59
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0002019HP:0002019Constipation0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0002019HP:0002019Constipation0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0002019HP:0002019Constipation0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0002019HP:0002019Constipation0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0002019HP:0002019Constipation0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0002019HP:0002019Constipation0SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent22
HP:0002019HP:0002019Constipation0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0002019HP:0002019Constipation0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0002019HP:0002019Constipation0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0002019HP:0002019Constipation0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0002019HP:0002019Constipation0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0002019HP:0002019Constipation0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0002019HP:0002019Constipation0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent61
HP:0002019HP:0002019Constipation0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0002019HP:0002019Constipation0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional24
HP:0002019HP:0002019Constipation0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0002019HP:0002019Constipation0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0002019HP:0002019Constipation0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome19
HP:0002019HP:0002019Constipation0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0002019HP:0002019Constipation0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0002019HP:0002019Constipation0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0002019HP:0002019Constipation0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002019HP:0002019Constipation0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002019HP:0002019Constipation0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0002019HP:0002019Constipation0SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent1
HP:0002019HP:0002019Constipation0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent45
HP:0002019HP:0002019Constipation0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0002019HP:0002019Constipation0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0002019HP:0002019Constipation0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0002019HP:0002019Constipation0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0002019HP:0002019Constipation0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0002019HP:0002019Constipation0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0002019HP:0002019Constipation0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002019HP:0002019Constipation0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0002019HP:0002019Constipation0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0002019HP:0002019Constipation0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002019HP:0002019Constipation0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002019HP:0002019Constipation0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0002019HP:0002019Constipation0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002019HP:0002019Constipation0TBL1X CL E G H690711585OMIM:301033Hypothyroidism, congenital, nongoitrous, 8.1
HP:0002019HP:0002019Constipation0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0002019HP:0002019Constipation0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0002019HP:0002019Constipation0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0002019HP:0002019Constipation0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0002019HP:0002019Constipation0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002019HP:0002019Constipation0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent155
HP:0002019HP:0002019Constipation0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040281 - Very frequent253
HP:0002019HP:0002019Constipation0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002019HP:0002019Constipation0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002019HP:0002019Constipation0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0002019HP:0002019Constipation0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0002019HP:0002019Constipation0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0002019HP:0002019Constipation0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0002019HP:0002019Constipation0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040282 - Frequent131
HP:0002019HP:0002019Constipation0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent92
HP:0002019HP:0002019Constipation0TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency.5
HP:0002019HP:0002019Constipation0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002019HP:0002019Constipation0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0002019HP:0002019Constipation0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0002019HP:0002019Constipation0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0002019HP:0002019Constipation0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0002019HP:0002019Constipation0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0002019HP:0002019Constipation0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0002019HP:0002019Constipation0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0002019HP:0002019Constipation0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0002019HP:0002019Constipation0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0002019HP:0002019Constipation0TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040281 - Very frequent97
HP:0002019HP:0002019Constipation0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040283 - Occasional97
HP:0002019HP:0002019Constipation0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent97
HP:0002019HP:0002019Constipation0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002019HP:0002019Constipation0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0002019HP:0002019Constipation0TTR CL E G H727612405ORPHA:85447ATTRV30M amyloidosisHP:0040282 - Frequent107
HP:0002019HP:0002019Constipation0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002019HP:0002019Constipation0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent85
HP:0002019HP:0002019Constipation0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0002019HP:0002019Constipation0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0002019HP:0002019Constipation0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0002019HP:0002019Constipation0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0002019HP:0002019Constipation0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0002019HP:0002019Constipation0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0002019HP:0002019Constipation0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0002019HP:0002019Constipation0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002019HP:0002019Constipation0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0002019HP:0002019Constipation0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0002019HP:0002019Constipation0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0002019HP:0002019Constipation0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0002019HP:0002019Constipation0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0002019HP:0002019Constipation0VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele.111
HP:0002019HP:0002019Constipation0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0002019HP:0002019Constipation0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0002019HP:0002019Constipation0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0002019HP:0002019Constipation0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0002019HP:0002019Constipation0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002019HP:0002019Constipation0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002019HP:0002019Constipation0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0002019HP:0002019Constipation0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040282 - Frequent20
HP:0002019HP:0002019Constipation0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040282 - Frequent20
HP:0002019HP:0002019Constipation0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002019HP:0002019Constipation0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0002019HP:0002019Constipation0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0002019HP:0002019Constipation0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0002019HP:0002019Constipation0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0002019HP:0002019Constipation0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0002019HP:0002019Constipation0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0002019HP:0002019Constipation0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0002019HP:0002019Constipation0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0002019HP:0002019Constipation0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0002019HP:0002019Constipation0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0002019HP:0002019Constipation0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002019HP:0002019Constipation0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0002019HP:0002019Constipation0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0002019HP:0012451Acute constipation1 CL E G H
HP:0002019HP:0012450Chronic constipation1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040284 - Very rare9
HP:0002019HP:0012450Chronic constipation1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0002019HP:0012450Chronic constipation1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0002019HP:0012450Chronic constipation1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002019HP:0012450Chronic constipation1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002019HP:0012450Chronic constipation1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002019HP:0012450Chronic constipation1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002019HP:0012450Chronic constipation1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0002019HP:0012450Chronic constipation1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002019HP:0012450Chronic constipation1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0002019HP:0012450Chronic constipation1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent660
HP:0002019HP:0012450Chronic constipation1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent325
HP:0002019HP:0012450Chronic constipation1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0002019HP:0012450Chronic constipation1DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR62
HP:0002019HP:0012450Chronic constipation1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002019HP:0012450Chronic constipation1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002019HP:0012450Chronic constipation1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0002019HP:0012450Chronic constipation1ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0002019HP:0012450Chronic constipation1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome.172
HP:0002019HP:0012450Chronic constipation1EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0002019HP:0012450Chronic constipation1ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0002019HP:0012450Chronic constipation1FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002019HP:0012450Chronic constipation1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002019HP:0012450Chronic constipation1FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0002019HP:0012450Chronic constipation1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0002019HP:0012450Chronic constipation1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0002019HP:0012450Chronic constipation1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0002019HP:0012450Chronic constipation1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002019HP:0012450Chronic constipation1GRIA1 CL E G H28904571OMIM:6199313
HP:0002019HP:0012450Chronic constipation1H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0002019HP:0012450Chronic constipation1H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002019HP:0012450Chronic constipation1H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002019HP:0012450Chronic constipation1H4C5 CL E G H83674790OMIM:619950
HP:0002019HP:0012450Chronic constipation1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002019HP:0012450Chronic constipation1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0002019HP:0012450Chronic constipation1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002019HP:0012450Chronic constipation1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0002019HP:0012450Chronic constipation1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002019HP:0012450Chronic constipation1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0002019HP:0012450Chronic constipation1LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002019HP:0012450Chronic constipation1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002019HP:0012450Chronic constipation1LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0002019HP:0012450Chronic constipation1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0002019HP:0012450Chronic constipation1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002019HP:0012450Chronic constipation1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0002019HP:0012450Chronic constipation1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0002019HP:0012450Chronic constipation1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002019HP:0012450Chronic constipation1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0002019HP:0012450Chronic constipation1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002019HP:0012450Chronic constipation1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome.1
HP:0002019HP:0012450Chronic constipation1MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency.80
HP:0002019HP:0012450Chronic constipation1MNX1 CL E G H31104979OMIM:176450Currarino syndrome.17
HP:0002019HP:0012450Chronic constipation1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0002019HP:0012450Chronic constipation1MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002019HP:0012450Chronic constipation1MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002019HP:0012450Chronic constipation1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002019HP:0012450Chronic constipation1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0002019HP:0012450Chronic constipation1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0002019HP:0012450Chronic constipation1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0002019HP:0012450Chronic constipation1OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002019HP:0012450Chronic constipation1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0002019HP:0012450Chronic constipation1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0002019HP:0012450Chronic constipation1PAK2 CL E G H50628591OMIM:618458
HP:0002019HP:0012450Chronic constipation1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0002019HP:0012450Chronic constipation1PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0002019HP:0012450Chronic constipation1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0002019HP:0012450Chronic constipation1POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002019HP:0012450Chronic constipation1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0002019HP:0012450Chronic constipation1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002019HP:0012450Chronic constipation1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0002019HP:0012450Chronic constipation1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002019HP:0012450Chronic constipation1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0002019HP:0012450Chronic constipation1RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0002019HP:0012450Chronic constipation1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0002019HP:0012450Chronic constipation1SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0002019HP:0012450Chronic constipation1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0002019HP:0012450Chronic constipation1SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0002019HP:0012450Chronic constipation1SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0002019HP:0012450Chronic constipation1SLC38A3 CL E G H1099118044OMIM:619881
HP:0002019HP:0012450Chronic constipation1SMO CL E G H660811119OMIM:601707Curry-Jones syndromeHP:0040283 - Occasional22
HP:0002019HP:0012450Chronic constipation1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0002019HP:0012450Chronic constipation1SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome19
HP:0002019HP:0012450Chronic constipation1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002019HP:0012450Chronic constipation1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002019HP:0012450Chronic constipation1TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002019HP:0012450Chronic constipation1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002019HP:0012450Chronic constipation1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0002019HP:0012450Chronic constipation1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002019HP:0012450Chronic constipation1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0002019HP:0012450Chronic constipation1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0002019HP:0012450Chronic constipation1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002019HP:0012450Chronic constipation1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0002019HP:0012450Chronic constipation1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0002019HP:0012450Chronic constipation1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0002019HP:0012450Chronic constipation1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0002019HP:0012450Chronic constipation1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002019HP:0012450Chronic constipation1UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0002019HP:0012450Chronic constipation1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0002019HP:0012450Chronic constipation1USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0002019HP:0012450Chronic constipation1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0002019HP:0012450Chronic constipation1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002019HP:0012450Chronic constipation1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643


Genes (431) :ABCD1 ABL1 ACTG2 ADAT3 ADH1C ADNP AFF3 AFF4 ALAD ALDOB ALPL AMN APC APC2 AQP2 ARID2 ARNT2 ARSB ARVCF ASH1L ATN1 ATP1A2 ATP1A3 ATP7A ATRX ATXN2 ATXN8OS AVPR2 BAZ1B BCL10 BCL7B BICRA BIRC3 BMPR1A BRAF BRCA1 BUD23 CACNA1A CACNA1C CACNA1S CAMK2B CAMTA1 CASR CASZ1 CAVIN1 CD96 CDC73 CDK13 CDKL5 CDKN1A CDKN1B CDKN2B CDKN2C CDON CHCHD2 CHD8 CHMP1A CHRM3 CHST14 CISD2 CLCNKB CLIP2 CNP COL1A1 COL5A1 COL5A2 COL7A1 COMT COQ2 COX1 COX2 COX3 CPOX CREBBP CSNK2A1 CTNS CUBN DACT1 DDC DDHD2 DDOST DEAF1 DES DHCR7 DHPS DISP1 DLL1 DMPK DNAJC13 DNAJC30 DNAJC6 DPF2 DSE DUOX2 DUOXA2 DYRK1A ECE1 EDA EDN3 EDNRB EIF4G1 EIF4H EIF5A ELF4 ELN ELP1 EP300 EPCAM ERBB2 ERBB3 EXT2 FAN1 FAR1 FBXO28 FBXW7 FDFT1 FGF12 FGF13 FGF8 FGFR1 FKBP6 FLI1 FLII FLNA FOXA2 FOXE1 FOXG1 FOXH1 FOXP1 FRMD5 GABRA3 GABRD GALNT2 GAS1 GATAD2B GBA1 GDNF GIGYF2 GJC2 GLI2 GLUD2 GNB2 GP1BB GRB10 GRIA1 GRIN1 GTF2I GTF2IRD1 GTF2IRD2 H1-4 H3-3A H3-3B H4C5 HESX1 HEXB HFE HIRA HIVEP2 HMBS HNRNPH2 HNRNPK HPSE2 HS2ST1 HSPG2 HTRA2 IGBP1 IGH IGHMBP2 IPO8 IQSEC2 IYD JMJD1C KCNAB2 KCNH1 KCNJ1 KCNJ18 KDM1A KIT KMT2A KMT2B KMT5B KRAS LAMA3 LAMB3 LAMC2 LBX1 LHX3 LHX4 LIMK1 LMNB1 LMNB2 LMX1B LRIG2 LRRK2 LUZP1 MADD MAGEL2 MALT1 MAPT MBD5 MC2R MDH2 MECP2 MED12 MED12L MED13 MED25 MEFV MEN1 METTL27 MITF MLH1 MLH3 MLXIPL MLYCD MMP1 MMP23B MNX1 MOGS MRAP MRPS34 MSH2 MSH6 MSL3 MYH11 MYO1H NAB2 NALCN NCF1 ND1 ND4 ND5 ND6 NFIX NGLY1 NKX2-1 NKX2-5 NNT NODAL NR4A2 NRTN NRXN1 NSD1 NSD2 OCA2 OCRL ODC1 OPA1 OTUD6B OTX2 P4HTM PACS1 PAK2 PARK7 PAX8 PCCA PCCB PCGF2 PDGFRA PDPN PEX16 PHIP PHOX2B PIGS PIGV PIK3CA PINK1 PLA2G6 PLCH1 PMS1 PMS2 PODXL POGZ POLG POLG2 POLRMT POR POU1F1 POU4F1 PPM1D PPOX PPP1CB PPP1R21 PPP2R1A PRDM16 PRKCZ PRKG2 PRKN PRNP PROKR2 PROP1 PSMB8 PTCH1 RAI1 RERE RET RFC2 RMRP RORA RPS20 RREB1 RRM2B SALL1 SATB1 SCN10A SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHB SDHC SEC24C SEMA3C SEMA3D SEMA4A SETD1A SETD2 SETD5 SH2B1 SHH SHQ1 SIK3 SIN3A SIX3 SKI SLC12A1 SLC12A2 SLC12A3 SLC1A3 SLC25A4 SLC26A4 SLC38A3 SLC5A5 SLC6A3 SLC6A8 SMARCA2 SMC1A SMO SMPD1 SNCA SNCAIP SNRPN SOX10 SOX2 SOX3 SPART SPATA5 SPEN SPOP SPTBN1 SRCAP SREBF1 STAG2 STAR STAT6 STIL STX1A STXBP1 SUPT16H SYNJ1 TAF1 TANC2 TAOK1 TBCD TBL1X TBL2 TBP TBX1 TCF20 TCF4 TDGF1 TFE3 TG TGFBR2 TGIF1 TH THRA TLK2 TMCO1 TMEM270 TNFRSF1A TPO TRH TRIM8 TRIO TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT TRNW TSHB TSHR TSPOAP1 TTR TWNK TXNRD2 TYMP UBE2A UBE3A UBE3B UBE4B UCHL1 UFC1 UFD1 UGP2 UNC80 UPF3B USP7 USP9X VANGL1 VPS11 VPS13C VPS35 VPS37D VPS51 WAC WASF1 WDR26 WFS1 ZEB2 ZIC2 ZMIZ1 ZNF292 ZSWIM6

Diseases (325) :ORPHA:388 OMIM:617602 OMIM:155310 ORPHA:363528 OMIM:168600 ORPHA:404448 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:100924 ORPHA:469 OMIM:241500 ORPHA:35858 ORPHA:99818 ORPHA:821 OMIM:125800 ORPHA:223 OMIM:617808 ORPHA:3157 OMIM:253200 ORPHA:567 OMIM:617796 OMIM:618494 ORPHA:2131 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:304800 ORPHA:904 ORPHA:52417 OMIM:619325 ORPHA:440437 OMIM:115150 ORPHA:168829 OMIM:620029 ORPHA:79102 OMIM:617799 OMIM:614756 ORPHA:314647 OMIM:239200 ORPHA:1606 OMIM:613327 ORPHA:1308 ORPHA:99880 ORPHA:143 OMIM:617360 OMIM:300672 ORPHA:652 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:616710 OMIM:615032 OMIM:614961 ORPHA:2970 OMIM:601776 ORPHA:2953 ORPHA:3463 ORPHA:358 OMIM:619071 ORPHA:287 ORPHA:89842 OMIM:226600 ORPHA:227510 ORPHA:98933 ORPHA:550 OMIM:121300 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:617062 ORPHA:411629 ORPHA:857 OMIM:608643 OMIM:615033 OMIM:614507 ORPHA:300536 ORPHA:468620 ORPHA:819 OMIM:601419 OMIM:270400 OMIM:618480 ORPHA:589821 ORPHA:411602 ORPHA:2828 OMIM:618027 ORPHA:95716 ORPHA:226316 ORPHA:268261 OMIM:305100 ORPHA:897 OMIM:619376 OMIM:301074 OMIM:194050 OMIM:223900 OMIM:618333 ORPHA:353284 ORPHA:144 OMIM:619465 OMIM:616682 ORPHA:466926 OMIM:619338 OMIM:619777 OMIM:620012 OMIM:618156 OMIM:617166 OMIM:301058 ORPHA:2308 OMIM:300321 ORPHA:95494 ORPHA:95713 OMIM:613454 ORPHA:391372 OMIM:620094 OMIM:618885 ORPHA:363686 OMIM:613206 OMIM:619503 ORPHA:96182 OMIM:619931 OMIM:614254 OMIM:617537 OMIM:619720 OMIM:619721 OMIM:619950 ORPHA:226307 ORPHA:309162 OMIM:176200 OMIM:616977 ORPHA:79276 OMIM:176000 OMIM:300986 OMIM:616580 ORPHA:352665 ORPHA:453504 ORPHA:2704 OMIM:236730 OMIM:619194 OMIM:300472 OMIM:604320 OMIM:619472 ORPHA:420561 OMIM:611816 OMIM:241200 OMIM:616728 OMIM:606764 ORPHA:44890 OMIM:605130 OMIM:619934 OMIM:617788 ORPHA:79404 OMIM:619483 ORPHA:99027 OMIM:169500 OMIM:619179 OMIM:619180 ORPHA:495818 ORPHA:2614 OMIM:615112 OMIM:619004 OMIM:619005 ORPHA:398069 OMIM:615547 ORPHA:228402 OMIM:156200 ORPHA:361 OMIM:617339 OMIM:300260 OMIM:312750 ORPHA:93932 OMIM:300895 OMIM:305450 OMIM:618872 OMIM:618009 ORPHA:464738 ORPHA:342 OMIM:249100 OMIM:248360 OMIM:176450 ORPHA:79330 OMIM:617664 OMIM:301032 OMIM:619350 OMIM:619482 ORPHA:2126 OMIM:616266 OMIM:615419 ORPHA:371364 ORPHA:447980 ORPHA:404454 ORPHA:95712 OMIM:614325 OMIM:619695 ORPHA:98794 OMIM:309000 ORPHA:534 ORPHA:544488 OMIM:210000 ORPHA:505237 OMIM:617452 OMIM:618493 ORPHA:329224 OMIM:615009 OMIM:618458 OMIM:218700 ORPHA:95720 ORPHA:35 OMIM:606054 OMIM:618371 OMIM:614877 ORPHA:589905 OMIM:209880 OMIM:618143 OMIM:239300 ORPHA:35069 OMIM:616364 ORPHA:468678 ORPHA:254892 OMIM:603041 OMIM:613662 OMIM:610131 OMIM:619743 ORPHA:95699 OMIM:619352 OMIM:617450 ORPHA:79473 OMIM:617506 OMIM:619383 OMIM:616362 OMIM:619636 OMIM:600072 ORPHA:90695 OMIM:256040 ORPHA:477817 OMIM:182290 OMIM:142623 OMIM:162300 OMIM:250250 OMIM:618060 OMIM:619229 ORPHA:46348 OMIM:615548 OMIM:133020 ORPHA:526 OMIM:619056 ORPHA:404440 ORPHA:261222 OMIM:619922 OMIM:618162 OMIM:613406 OMIM:157170 OMIM:601678 OMIM:619080 OMIM:263800 OMIM:619881 OMIM:274400 ORPHA:238455 OMIM:613135 OMIM:300352 ORPHA:52503 OMIM:601358 OMIM:601707 OMIM:257200 OMIM:105830 ORPHA:163746 ORPHA:101000 OMIM:616577 ORPHA:457351 OMIM:619312 OMIM:618829 OMIM:619475 ORPHA:2044 OMIM:619480 OMIM:300966 OMIM:618906 OMIM:619575 ORPHA:496641 OMIM:617193 OMIM:301033 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:301066 ORPHA:101150 OMIM:614450 OMIM:618050 OMIM:213980 OMIM:142680 ORPHA:32960 OMIM:275120 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 ORPHA:225 ORPHA:90674 ORPHA:90673 OMIM:105210 ORPHA:85447 ORPHA:163956 OMIM:244450 OMIM:618076 OMIM:618744 OMIM:616801 OMIM:300676 ORPHA:500055 OMIM:300919 OMIM:600145 OMIM:616683 ORPHA:466934 OMIM:618606 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:618707 ORPHA:513456 OMIM:617616 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:619188 OMIM:617865
 

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