| children | - Ablepharon macrostomia syndrome 718575002
- Achalasia microcephaly syndrome 718573009
- Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein 720461006
- Acute infantile liver failure with multisystemic involvement syndrome 774207004
- Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome 1187643003
- Alpha-1-antitrypsin deficiency 30188007
- Alstrom syndrome 63702009
- Aplasia of lacrimal and salivary gland 715656004
- Arteriohepatic dysplasia 31742004
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009
- Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome 722288007
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 717045004
- Autosomal dominant hyperinsulinism due to SUR1 deficiency 717046003
- Autosomal dominant polycystic liver disease 890229002
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 783768006
- Autosomal recessive hyperinsulinism due to SUR1 deficiency 783767001
- Beckwith-Wiedemann syndrome 81780002
- Benign recurrent intrahepatic cholestasis 31155007
- Boder syndrome 716180009
- Boichis syndrome 717187000
- Carney Stratakis syndrome 722377004
- Caroli syndrome 1237346001
- Choanal atresia with radial ray hypoplasia 232373003
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome 720640005
- Cholestasis-edema syndrome, Norwegian type 28724005
- Chronic atrial and intestinal dysrhythmia 720507006
- Chronic enteropathy associated with SLCO2A1 gene 1187194006
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity 785727000
- Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome 719456001
- Cleft lip retinopathy syndrome 732247000
- Combined immunodeficiency, enteropathy spectrum 1197428008
- Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome 1279887007
- Congenital chronic diarrhea with protein-losing enteropathy 773579007
- Congenital junctional epidermolysis bullosa-pyloric atresia syndrome 53748002
- Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 722392003
- Congenital palmoplantar and perioral keratoderma of Olmsted 239072003
- Congenital secretory diarrhea, chloride type 24412005
- Contiguous ABCD1 DXS1357E deletion syndrome 773415005
- Cowden syndrome 58037000
- Crigler-Najjar syndrome, type I 8933000
- Cutaneous photosensitivity and lethal colitis syndrome 720820000
- Cystic fibrosis of pancreas 235978006
- Cystic fibrosis with gastritis and megaloblastic anemia syndrome 720401009
- Cystic fibrosis with meconium ileus 86092005
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 1172901009
- Deafness, small bowel diverticulosis, neuropathy syndrome 733071009
- Deafness, vitiligo, achalasia syndrome 733069009
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 783741006
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 783740007
- Dubin-Johnson syndrome 44553005
- Epidermolysis bullosa simplex with pyloric atresia 716701004
- Exercise-induced hyperinsulinism 715830008
- Familial arthrogryposis-cholestatic hepatorenal syndrome 62216007
- Familial gastric type 1 neuroendocrine neoplasm 1264340007
- Familial median cleft of upper and lower lip 718552009
- Familial multiple polyposis syndrome 72900001
- Familial omphalocele syndrome with facial dysmorphism 770900000
- Familial porphyria cutanea tarda 59229005
- Familial visceral neuropathy 20725005
- Ferro-cerebro-cutaneous syndrome 774151000
- Fever-associated acute infantile liver failure syndrome 1208726006
- Flat face, microstomia, ear anomaly syndrome 773750003
- Focal palmoplantar and gingival keratoderma 764963007
- FTH1-related iron overload 1230310007
- Gastric adenocarcinoma and proximal polyposis of stomach 771474005
- Gastrocutaneous syndrome 782946000
- GCGR-related hyperglucagonemia 1228875006
- Glucocorticoid deficiency with achalasia 45414006
- Glycogen phosphorylase kinase deficiency 235908005
- Glycogen storage disease, hepatic form 6075009
- Glycogen synthase deficiency 237964009
- Glycogenosis with glucoaminophosphaturia 61598006
- Goldberg Shprintzen megacolon syndrome 717822006
- Growth delay, intellectual disability, hepatopathy syndrome 1186713004
- Growth retardation, mild developmental delay, chronic hepatitis syndrome 774204006
- Harlequin ichthyosis 205548006
- HELIX syndrome 1217380005
- Hepatic veno-occlusive disease with immunodeficiency syndrome 724361001
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 764962002
- Hereditary benign intraepithelial dyskeratosis 400014002
- Hereditary coproporphyria 7425008
- Hereditary diffuse carcinoma of stomach 716859000
- Hereditary disorder of tooth 1148766007
- Hereditary gastrogenic lactose intolerance 25744000
- Hereditary gingival fibromatosis 109620006
- Hereditary hemorrhagic telangiectasia of gingiva 1197033002
- Hereditary hollow viscus myopathy 63684002
- Hereditary malignant neuroendocrine neoplasm of small intestine 1222643003
- Hereditary mixed polyposis syndrome 787410005
- Hereditary mucoepithelial dysplasia 403442005
- Hereditary pancreatitis 68072000
- Hereditary splenic hypoplasia 302961007
- Hirschsprung disease with deafness and polydactyly syndrome 721221000
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- Hirschsprung disease with type D brachydactyly syndrome 721222007
- HNPCC - hereditary nonpolyposis colon cancer 315058005
- Holzgreve syndrome 783159001
- Hyperbiliverdinemia 771441005
- Hyperinsulinism and hyperammonemia syndrome 718106009
- Hyperinsulinism due to deficiency of glucokinase 717182006
- Hyperinsulinism due to HNF1A deficiency 721234004
- Hyperinsulinism due to HNF4A deficiency 717048002
- Hyperinsulinism due to insulin receptor deficiency 721235003
- Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency 721236002
- Hyperinsulinism due to uncoupling protein 2 deficiency 721834007
- Hypertelorism with microtia and facial clefting syndrome 721836009
- Hypoinsulinemic hypoglycemia and body hemihypertrophy 773666007
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome 773673002
- Ichthyosis congenita with biliary atresia 235916001
- Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome 771333006
- Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome 1186654001
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Inherited renal tubule insufficiency with cholestatic jaundice 236482006
- Intestinal enteropeptidase deficiency 56661000
- Intestinal epithelial dysplasia 715669000
- Intestinal lipofuscinosis 28212002
- Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency 733447005
- Isolated neonatal sclerosing cholangitis 1220580006
- Isolated polycystic liver disease 716196007
- Joubert syndrome with congenital hepatic fibrosis 721847002
- Joubert syndrome with orofaciodigital defect 721873007
- Juvenile polyposis syndrome 9273005
- Kapur Toriello syndrome 722031003
- Karandikar Maria Kamble syndrome 715989002
- Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome 1172591008
- Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome 1237470001
- Lowry Yong syndrome 716007007
- Lymphedema, posterior choanal atresia syndrome 1204421005
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- Median nodule of upper lip 722034006
- Megacystis, microcolon, hypoperistalsis syndrome 253781004
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Microbrachycephaly, ptosis, cleft lip syndrome 723403008
- Mitochondrial DNA depletion syndrome hepatocerebrorenal form 782771007
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome 718214007
- Mohr syndrome 1779005
- Mowat-Wilson syndrome 703535000
- Moyamoya disease with early onset achalasia 718551002
- Mucopolysaccharidosis, MPS-II 70737009
- Multiple gastrointestinal atresias 95472001
- Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome 773584001
- Navajo neurohepatopathy 784346006
- Neonatal inflammatory skin and bowel disease 773662009
- Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007
- Non-hypoproteinemic hypertrophic gastropathy 773397000
- NPHP3-related Meckel-like syndrome 773737004
- Oculogastrointestinal muscular dystrophy 722060007
- Oculopharyngeal muscular dystrophy 77097004
- Oculopharyngodistal myopathy 763829004
- Oro-facial digital syndrome type 14 763837007
- Oro-facial digital syndrome type 5 722105002
- Oro-facial digital syndrome type 8 722106001
- Oro-facial digital syndrome type 9 718680001
- Orofacial-digital syndrome III 239030004
- Orofacial-digital syndrome IV 239031000
- Pancreatic colipase deficiency 69478001
- Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome 722206009
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome 722207000
- Pancreatic triacylglycerol lipase deficiency 78960005
- Papillon-Lefèvre syndrome 40158001
- Partial pancreatic agenesis 719044008
- Periodic fever, infantile enterocolitis, autoinflammatory syndrome 1197594000
- Periodontitis co-occurrent with genetic disorder 710903001
- Peutz-Jeghers syndrome 54411001
- Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction 237612000
- PLACK syndrome 1237509001
- Progressive intrahepatic cholestasis 74162007
- Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome 723829000
- Renal hepatic pancreatic dysplasia 763891005
- Retinohepatoendocrinologic syndrome 724000006
- Rotor syndrome 32891000
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Shwachman syndrome 89454001
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009
- STAR syndrome 723581006
- Sucrase-isomaltase deficiency 78373000
- Syndromic congenital sodium diarrhea 1222709003
- Synthetic defect of bile acids 235915002
- Total intestinal aganglionosis 204745000
- Transient infantile hypertriglyceridemia and hepatosteatosis 773649005
- Tremor, nystagmus, duodenal ulcer syndrome 782935003
- Trichohepatoenteric syndrome 703406006
- Tungland Bellman syndrome 716239006
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome 719042007
- Waardenburg Shah syndrome 715952000
- White sponge nevus 389203001
- Wilson's disease 88518009
- X-linked cleft palate and ankyloglossia 766761000
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome 724276006
- XY type gonadal dysgenesis with associated anomalies syndrome 733605002
- Zlotogora Ogur syndrome 716248001
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