Disorders

A

Abetalipoproteinemia

Acrodermatitis enteropathica

Chronic atrial and intestinal dysrhythmia syndrome

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Enteric anendocrinosis

Small bowel atresia

Colonic atresia

Duodenal atresia

Multiple intestinal atresia

B

Bardet-Biedl syndrome

C

Cap polyposis

Cowden syndrome
CDG syndromes:
- ALG6-CDG
- ALG8-CDG

Undetermined colitis (in children)
Crohn's disease ( in children)

Chylomicron retention disease

Refractory celiac disease

Cutaneous photosensitivity-lethal colitis syndrome

D

Chronic diarrhea with villous atrophy

Congenital sucrase-isomaltase deficiency

Intractable diarrhea-choanal atresia-eye anomalies syndrome

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Congenital chloride diarrhea

Chronic diarrhea due to glucoamylase deficiency

Congenital chronic diarrhea with protein-losing enteropathy

Chronic infantile diarrhea due to guanylate cyclase 2C overactivity

Congenital sodium diarrhea

Syndromic congenital sodium diarrhea

Syndromic diarrhea

E

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

Mitochondrial neurogastrointestinal encephalomyopathy

NK cell enteropathy

Primary autoimmune enteropathy

Congenital enteropathy due to enteropeptidase deficiency

Combined immunodeficiency-enteropathy spectrum

Congenital tufting enteropathy

F

Hereditary fructose intolerance

Feingold syndrome

Feingold syndrome type 1

Feingold syndrome type 2

G

Eosinophilic gastroenteritis

Gräsbeck-Imerslund syndrome

Iopathic gastroparesis

Goldberg-Shprintzen megacolon syndrome

Chronic granulomatous disease

H

Congenital enterocyte heparan sulfate deficiency

Hirschsprung's disease

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Haddad syndrome

Hirschsprung disease-type D brachydactyly syndrome

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-ganglioneuroblastoma syndrome

i

Neonatal inflammatory skin and bowel disease

Idiopathic Exocrine Pancreatic Insufficiency ( no orpha code)

L

Laparoschisis (Gastroschisis)

Congenital lactase deficiency

Combined immunodeficiency due to LRBA deficiency

Primary intestinal lymphangiectasia

Syndromic multisystem autoimmune disease due to Itch deficiency

Secondary intestinal lymphangiectasia

M

Glucose-galactose malabsorption

Hereditary folate malabsorption

Idiopathic malabsorption due to bile acid synthesis defect

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Microvillous inclusion disease

Multisystemic smooth muscle dysfunction syndrome

Mowat-Wilson syndrome due to monosomy 2q22

Microgastria-limb anomaly syndrome

Mowat-Wilson syndrome

Mowat-Wilson syndrome due to a ZEB2 point mutation

Common mesentery

Malakoplakia

Familial intestinal malrotation

Congenital microgastria

MPI-CDG

Familial visceral myopathy

N

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

O

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

P

Autoimmune pancreatitis

Autoimmune pancreatitis type 1

Autoimmune pancreatitis type 2

Hereditary chronic pancreatitis

Follicular cholangitis and pancreatitis

Tropical pancreatitis

Familial adenomatous polyposis

Polymerase proofreading-related adenomatous polyposis

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

Pearson syndrome

Peutz-Jeghers syndrome

Attenuated familial adenomatous polyposis

MSH3-associated attenuated familial adenomatous polyposis

NTHL1-associated attenuated familial adenomatous polyposis

APC-linked attenuated familial adenomatous polyposis

AXIN2-linked attenuated familial adenomatous polyposis

MUTYH-linked attenuated familial adenomatous polyposis

Familial adenomatous polyposis due to a microdeletion 5q22.2

Congenital pancreatic cyst

Serrated polyposis syndrome

Juvenile polyposis syndrome

Generalized juvenile polyposis / Juvenile colorectal polyposis

Infantile juvenile polyposis

Radiation proctitis

Chronic intestinal pseudo-obstruction

Myopathic intestinal pseudo-obstruction

Unclassified intestinal pseudo-obstruction

Neuronal type intestinal pseudo-obstruction

Pancreatic triacylglycerol lipase deficiency

Pancreatic insufficiency-anemia-hyperostosis syndrome

R

Solitary rectal ulcer syndrome

S

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

Congenital short bowel syndrome

Secondary short bowel syndrome

Primary short bowel syndrome

Shwachman-Diamond syndrome

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

T

Trehalase deficiency

U

Ulcerative colitis (in children)

Umbilical cord ulceration-intestinal atresia syndrome

W

Waardenburg-Shah syndrome

Whipple disease