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Gene: Khdrbs2 MGI:2159649

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
KH domain containing, RNA binding, signal transduction associated 2
Synonyms:
6330586C16Rik,  SLM-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Khdrbs2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Khdrbs2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Waddling gait, Broad-based gait, Unsteady gait, Gait ataxia, Feeding difficulties, Tip-toe gait, ... ORPHA:468620
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Diastasis Recti And Weakness Of The Linea Alba
Constipation OMIM:612198
Paroxysmal Extreme Pain Disorder
Constipation ORPHA:46348
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:616410
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Constipation, Gait disturbance OMIM:616710
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Bradykinesia, Falls, Gait imbalance, Loss of ambulatio... ORPHA:240094
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Hypokinesia OMIM:609161
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Abdominal distention, Diarrhea, Vomiting ORPHA:35122
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Lewy bodies, Akinesia OMIM:616840
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Bradykinesia, Akinesia OMIM:619911
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Congenital Myopathy 9A
Akinesia OMIM:618822
Corticobasal Syndrome
Bradykinesia, Gait disturbance, Akinesia ORPHA:454887
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia OMIM:300894
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Bradykinesia, Gait disturbance, Hypokinesia OMIM:606693
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Ataxia, Feeding difficulties OMIM:620270
Perry Syndrome
Bradykinesia, Short stepped shuffling gait, Akinesia OMIM:168605
Hereditary Central Diabetes Insipidus
Lethargy, Diarrhea, Vomiting ORPHA:30925
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Abdominal distention, Gastrointestinal dys... OMIM:613662
Manganese Poisoning
Bradykinesia, Gait disturbance, Akinesia ORPHA:306682
Variegate Porphyria
Constipation, Vomiting, Abdominal pain OMIM:176200
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Brunner Syndrome
Diarrhea OMIM:300615
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia OMIM:605407
Sandhoff Disease, Juvenile Form
Ataxia, Diarrhea, Constipation, Gait disturbance, Dysphagia ORPHA:309162
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Spinocerebellar Ataxia Type 12
Ataxia, Unsteady gait, Bradykinesia, Gait disturbance, Limb dysmetria, Hypokinesia ORPHA:98762
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Fg Syndrome 2
Constipation OMIM:300321
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Falls, Gait imbalance, Akinesia ORPHA:240071
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Constipation, Ataxia, Feeding difficulties OMIM:620094
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Postencephalitic Parkinsonism
Bradykinesia, Diminished movement, Akinesia ORPHA:97349
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:613135
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Fetal Akinesia Deformation Sequence
Hypokinesia, Akinesia ORPHA:994
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Constipation, Gait disturbance ORPHA:2349
Coproporphyria, Hereditary
Constipation, Vomiting, Diarrhea, Abdominal pain OMIM:121300
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Gait ataxia, Bradykinesia, Feeding difficulties, Constipation, Lethargy ORPHA:101150
Thyroid Dyshormonogenesis 1
Lethargy, Constipation OMIM:274400
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Infantile Dystonia-Parkinsonism
Bradykinesia, Gastroesophageal reflux, Constipation, Feeding difficulties ORPHA:238455
Glutathionuria
Dysdiadochokinesis, Constipation OMIM:231950
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Ataxia, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea OMIM:619971
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Hypokinesia OMIM:618184
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Lewy bodies, Shuffling gait, Akinesia ORPHA:411602
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Hypokinesia OMIM:620007
Thyrotropin-Releasing Hormone Deficiency
Constipation OMIM:275120
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Inability to walk, Gait ataxia, Constipation, Gastroesophageal r... DECIPHER:45
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:606528
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Ataxia, Gait disturbance ORPHA:29822
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Athetosis, Diarrhea, Ataxia OMIM:229050
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation OMIM:301033
Seizures-Scoliosis-Macrocephaly Syndrome
Broad-based gait, Gastroesophageal reflux, Nausea, Constipation ORPHA:466926
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Parkinson Disease, Late-Onset
Bradykinesia, Constipation, Dysphagia, Lewy bodies, Short stepped shuffling gait OMIM:168600
Solitary Rectal Ulcer Syndrome
Abdominal pain, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid diarrhea, Epis... ORPHA:209964
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Neurodevelopmental Disorder With Dystonia And Seizures
Athetosis, Constipation, Feeding difficulties OMIM:619922
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Chronic constipation OMIM:618906
Typhoid
Gastrointestinal hemorrhage, Ataxia, Abdominal pain, Diarrhea, Constipation, Lethargy ORPHA:99745
Diarrhea 9
Diarrhea OMIM:618168
Congenital Myopathy 12
Akinesia OMIM:612540
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Gait disturbance, Hypokinesia OMIM:616981
Supranuclear Palsy, Progressive, 2
Akinesia, Neurofibrillary tangles, Bradykinesia, Falls, Gait imbalance OMIM:609454
Maternally-Inherited Diabetes And Deafness
Constipation, Ataxia ORPHA:225
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Functional abnormality of ... ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Akinesia OMIM:619147
Developmental And Epileptic Encephalopathy 47
Ataxia, Inability to walk, Limb ataxia, Feeding difficulties, Chronic constipation, Gait disturbance OMIM:617166
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Constipation, Feeding difficulties OMIM:614254
Behr Syndrome
Ataxia, Unsteady gait, Dysmetria, Dysphagia, Chronic constipation, Gait disturbance, Truncal ataxia OMIM:210000
Central Diabetes Insipidus
Nausea and vomiting, Lethargy, Diarrhea, Anorexia ORPHA:178029
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Foxg1 Syndrome
Inability to walk, Feeding difficulties, Choreoathetosis, Constipation, Gastroesophageal reflux, ... ORPHA:561854
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux OMIM:608971
Aceruloplasminemia
Diabetes mellitus, Ataxia, Akinesia, Limb ataxia, Gait ataxia ORPHA:48818
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Spastic Paraplegia 44, Autosomal Recessive
Constipation, Ataxia, Spastic gait, Dysmetria OMIM:613206
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Constipation OMIM:614450
Peroxisome Biogenesis Disorder 8B
Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Tip-toe gait, Constipation, Decreased liver functi... OMIM:614877
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Feeding difficulties, Vomiting, Gait ataxia OMIM:612075
Fetal Akinesia Syndrome, X-Linked
Hypokinesia OMIM:300073
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Gait disturbance ORPHA:589905
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Hypokinesia OMIM:619063
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Supranuclear Palsy, Progressive, 1
Akinesia, Neurofibrillary tangles, Bradykinesia, Falls, Gait imbalance OMIM:601104
Muscular Hypertonia, Lethal
Hypokinesia OMIM:254120
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Feeding difficulties, Choreoathetosis, Constipation, Gastroesophageal reflux, ... OMIM:617664
Hijazi-Reis Syndrome
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Gait disturbance, Chronic constipation OMIM:301094
Skraban-Deardorff Syndrome
Broad-based gait, Constipation, Spastic gait, Feeding difficulties OMIM:617616
Developmental Delay, Hypotonia, And Impaired Language
Gastroesophageal reflux, Constipation, Ataxia, Feeding difficulties OMIM:620012
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Diarrhea, Vomiting OMIM:615863
Combined Oxidative Phosphorylation Deficiency 6
Hypokinesia OMIM:300816
Jansen-De Vries Syndrome
Broad-based gait, Feeding difficulties, Gastroesophageal reflux, Vomiting, Constipation OMIM:617450
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Lethargy, Constipation ORPHA:95717
Thyroid Hemiagenesis
Abdominal distention, Constipation ORPHA:95719
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Limb ataxia, Gait ataxia, Bradykinesia, Progressive ce... ORPHA:227510
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Developmental And Epileptic Encephalopathy 102
Inability to walk, Gastroesophageal reflux, Chronic constipation OMIM:619881
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Let... ORPHA:927
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Broad-based gait, Constipation, Feeding difficulties OMIM:614325
Gaucher Disease, Perinatal Lethal
Hypokinesia, Akinesia OMIM:608013
Intellectual Developmental Disorder, Autosomal Recessive 76
Chronic constipation, Feeding difficulties OMIM:619931
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Difficulty walking, Episodic vomiti... ORPHA:100924
Al-Raqad Syndrome
Inability to walk, Chronic constipation, Gait ataxia OMIM:616459
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Gait disturbance, Shuffling gait, Loss of ambulation, Lewy bodies, Hypokinesia OMIM:168601
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Constipation, Gait ataxia ORPHA:102
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Immunodeficiency 48
Diarrhea OMIM:269840
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Chronic constipation, Ataxia, Dysmetria OMIM:619352
Congenital Disorder Of Glycosylation, Type Ir
Chronic constipation, Gastroesophageal reflux, Decreased liver function OMIM:614507
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diarrhea, Anorexia ORPHA:49827
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... ORPHA:100082
Severe X-Linked Mitochondrial Encephalomyopathy
Hypokinesia ORPHA:238329
Diarrhea 13
Secretory diarrhea, Vomiting OMIM:620357
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Constipation, Ataxia, Pseudobulbar paralysis, Bowel incontinence OMIM:169500
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Hinman Syndrome
Constipation, Bowel incontinence ORPHA:84085
Propionic Acidemia
Constipation ORPHA:35
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Constipation, Gait ataxia ORPHA:98933
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abdo... ORPHA:2494
Mercaptolactate-Cysteine Disulfiduria
Hypokinesia OMIM:249650
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Unsteady gait, Constipation OMIM:618480
Niemann-Pick Disease, Type A
Feeding difficulties in infancy, Inability to walk, Athetosis, Constipation, Vomiting, Protuberan... OMIM:257200
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Feeding difficulties, Gastroesophageal reflux, Chronic constipation OMIM:616577
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Bradykinesia, Constipation, Gait imbalance, Nausea ORPHA:2828
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Diminished movement ORPHA:240103
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Feeding difficulties, Gait ataxia, Constipation, Decreased liver function OMIM:618606
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Enterokinase Deficiency
Diarrhea OMIM:226200
Ethylmalonic Encephalopathy
Diarrhea, Ataxia ORPHA:51188
Intellectual Developmental Disorder With Autism And Macrocephaly
Constipation OMIM:615032
Central Hypoventilation Syndrome, Congenital, 3
Chronic constipation, Episodic vomiting, Feeding difficulties OMIM:619483
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Constipation OMIM:273390
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Hypokinesia OMIM:610498
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis OMIM:619079
Classic Galactosemia
Ataxia, Diarrhea, Feeding difficulties, Gait disturbance, Gait imbalance, Vomiting, Lethargy, Hep... ORPHA:79239
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Abdominal pain OMIM:620137
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Fatal Familial Insomnia
Constipation, Ataxia, Dysphagia OMIM:600072
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Chronic constipation OMIM:619465
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Ataxia, Unsteady gait, Feeding difficulties, Gastroesophageal reflux, Constipation OMIM:617865
Developmental And Epileptic Encephalopathy 90
Constipation, Abdominal pain OMIM:301058
Liddle Syndrome
Constipation ORPHA:526
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Chronic constipation, Broad-based gait, Feeding difficulties OMIM:618707
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Schaaf-Yang Syndrome
Inability to walk, Feeding difficulties, Constipation, Gastroesophageal reflux, Poor suck OMIM:615547
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:615419
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Hypokinesia OMIM:614707
Chylomicron Retention Disease
Diarrhea, Malnutrition, Vomiting, Steatorrhea OMIM:246700
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Constipation, Feeding difficulties OMIM:616801
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... ORPHA:319218
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Intermediate Nemaline Myopathy
Hypokinesia, Difficulty walking ORPHA:171433
2Q23.1 Microdeletion Syndrome
Constipation, Ataxia ORPHA:228402
Developmental And Epileptic Encephalopathy 51
Inability to walk, Constipation, Feeding difficulties OMIM:617339
Congenital Disorder Of Glycosylation, Type Iij
Ataxia, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent infection of the gastr... OMIM:613489
X-Linked Creatine Transporter Deficiency
Athetosis, Constipation, Ileus, Ataxia ORPHA:52503
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea OMIM:613291
Alzheimer Disease 3
Neurofibrillary tangles, Gait disturbance, Optic ataxia OMIM:607822
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Choreoathetosis, Athetosis, Constipation, Gastroesopha... OMIM:608643
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure ORPHA:75234
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Enteric Anendocrinosis
Diarrhea, Vomiting ORPHA:83620
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Hypokinesia ORPHA:157941
Encephalopathy, Ethylmalonic
Chronic diarrhea, Ataxia, Feeding difficulties OMIM:602473
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Rett Syndrome
Gait apraxia, Gait ataxia, Constipation, Gastroesophageal reflux, Truncal ataxia OMIM:312750
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Diarrhea, Vomiting, Decreased liver function, Lethargy ORPHA:42
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Choreoathetosis, Bradykinesia, Gait disturbance OMIM:234200
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Peritonitis, Diarrhe... ORPHA:343
Temple-Baraitser Syndrome
Constipation, Gastroesophageal reflux OMIM:611816
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Unsteady gait, Feeding difficulties, Dysphagia ORPHA:79101
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Ataxia, Inability to walk, Bradykinesia, Hypokinesia OMIM:617854
Huntington Disease
Inability to walk, Bradykinesia, Gait disturbance, Gait imbalance, Difficulty walking, Hypokinesia ORPHA:399
Erythroderma Desquamativum
Diarrhea ORPHA:314
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Athetosis, Constipation OMIM:617302
Cog7-Cdg
Diarrhea, Feeding difficulties ORPHA:79333
Propionic Acidemia
Poor appetite, Feeding difficulties in infancy, Constipation, Vomiting, Lethargy OMIM:606054
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea OMIM:613501
Desanto-Shinawi Syndrome
Constipation, Feeding difficulties OMIM:616708
Familial Thyroid Dyshormonogenesis
Feeding difficulties in infancy, Lethargy, Constipation ORPHA:95716
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Lethargy ORPHA:99828
Pontocerebellar Hypoplasia, Type 8
Feeding difficulties, Gait ataxia, Constipation, Gastroesophageal reflux, Dysphagia OMIM:614961
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Chronic diarrhea OMIM:618805
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Feeding difficulties, Constipation, Gait imbalance, Dysphagia, Poor suck ORPHA:98794
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Feeding difficulties, Bloody diarrhea OMIM:615119
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Spastic Paraplegia 20, Autosomal Recessive
Dysmetria, Chronic constipation, Difficulty walking, Dysphagia, Spastic gait OMIM:275900
48,Xxyy Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Ataxia ORPHA:10
Immunodeficiency 19
Chronic diarrhea OMIM:615617
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Chronic constipation, Ataxia OMIM:618060
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea OMIM:176000
Vascular Hyalinosis
Hematochezia, Diarrhea OMIM:277175
Combined Oxidative Phosphorylation Deficiency 1
Hypokinesia OMIM:609060
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Gerstmann-Straussler Disease
Neurofibrillary tangles, Limb ataxia, Gait ataxia, Bradykinesia, Truncal ataxia OMIM:137440
Rheumatic Fever
Nausea and vomiting, Anorexia, Abdominal pain, Constipation, Gait disturbance ORPHA:3099
Cataracts, Spastic Paraparesis, And Speech Delay
Chronic constipation OMIM:619338
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Diarrhea, Encopresis, Gastroesophageal reflux, Constipation, Dysphagia ORPHA:589821
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Constipation, Ataxia, Feeding difficulties OMIM:618430
Waisman Syndrome
Bradykinesia, Lewy bodies, Shuffling gait OMIM:311510
Leukodystrophy, Hypomyelinating, 20
Chronic constipation, Feeding difficulties OMIM:619071
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Ataxia, Cerebral amyloid angiopathy OMIM:117300
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Consti... ORPHA:95427
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Diarrhea, Limb ataxia, Constipation, Truncal ataxia, Episodic vomiting OMIM:105210
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Diarrhea, Feeding difficulties OMIM:255120
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Diarrhea, Gast... ORPHA:298
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Ataxia, Vomiting OMIM:560000
Primary Progressive Freezing Gait
Dysphagia, Bradykinesia, Shuffling gait, Gait imbalance, Difficulty walking, Lewy bodies ORPHA:75567
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Constipation, Unsteady gait, Gastroesophageal reflux, Nasogastric tube feeding ORPHA:329224
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Diarrhea, Gastrointestinal dysmotil... OMIM:603041
Ddost-Cdg
Constipation, Gastroesophageal reflux ORPHA:300536
Alpha-N-Acetylgalactosaminidase Deficiency
Constipation, Gastroesophageal reflux ORPHA:3137
Cog4-Cdg
Fatal liver failure in infancy, Ataxia, Feeding difficulties, Intermittent diarrhea, Recurrent in... ORPHA:263501
Developmental And Epileptic Encephalopathy 83
Feeding difficulties in infancy, Chronic constipation, Poor suck OMIM:618744
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic constipation, Chronic diarrhea, Poor suck, Feeding difficulties OMIM:617788
Immunodeficiency 69
Diarrhea OMIM:618963
Polymyositis
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Gastroesophageal reflux, Constipation, Gai... ORPHA:732
Infantile Neuroaxonal Dystrophy
Constipation, Unsteady gait, Ataxia, Gait disturbance ORPHA:35069
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Inability to walk, Constipation, Gastroesophageal reflux, Dysphagia OMIM:618494
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis OMIM:617638
Angelman Syndrome
Broad-based gait, Ataxia, Feeding difficulties in infancy, Progressive gait ataxia, Constipation OMIM:105830
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Waardenburg-Shah Syndrome
Intestinal obstruction, Constipation, Abdominal pain ORPHA:897
Necrotizing Enterocolitis
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy ORPHA:391673
Trichohepatoenteric Syndrome 2
Chronic diarrhea, Diarrhea, Colitis, Bloody diarrhea OMIM:614602
Williams-Beuren Region Duplication Syndrome
Chronic constipation, Gait disturbance, Feeding difficulties OMIM:609757
Ochoa Syndrome
Constipation, Bowel incontinence ORPHA:2704
Hogue-Janssen Syndrome 2
Inability to walk, Chronic constipation, Gait ataxia OMIM:616362
Urofacial Syndrome 1
Constipation OMIM:236730
Hypermanganesemia With Dystonia 2
Inability to walk, Scissor gait, Bradykinesia, Tip-toe gait, Gait disturbance, Hypokinesia OMIM:617013
Carnitine Deficiency, Systemic Primary
Lethargy, Diarrhea, Vomiting OMIM:212140
Fg Syndrome 5
Chronic constipation OMIM:300581
Dpagt1-Cdg
Inability to walk, Ataxia, Akinesia ORPHA:86309
Visceral Myopathy 1
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Lewy bodies OMIM:619133
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen ORPHA:226313
Coffin-Siris Syndrome 6
Constipation, Gastroesophageal reflux OMIM:617808
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Transcobalamin Ii Deficiency
Lethargy, Diarrhea, Ataxia, Vomiting OMIM:275350
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Feeding difficulties in infancy, Ileus, Gait disturbance, Vomiting, Constipation OMIM:300352
Immunodeficiency 9
Stomatitis, Chronic diarrhea, Recurrent aphthous stomatitis, Difficulty walking OMIM:612782
Immunodeficiency 76
Chronic diarrhea, Colitis OMIM:619164
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Nasogastric tube feeding ORPHA:289504
Toxin-Mediated Infectious Botulism
Constipation, Dysphagia ORPHA:230800
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Nk-Cell Enteropathy
Abdominal pain, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipation ORPHA:263665
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea OMIM:601457
Genetic Transient Congenital Hypothyroidism
Lethargy, Constipation, Feeding difficulties ORPHA:226316
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Diarrhea, Ataxia, Poor appetite OMIM:201100
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:264350
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Lewy bodies OMIM:614251
Cutaneous Mastocytoma
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79455
Angelman Syndrome
Broad-based gait, Ataxia, Gastrostomy tube feeding in infancy, Inability to walk, Feeding difficu... ORPHA:72
Eosinophilic Gastroenteritis
Abdominal pain, Diarrhea, Steatorrhea, Hematochezia, Vomiting, Dysphagia ORPHA:2070
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Constipation, Feeding difficulties ORPHA:391372
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Constipation, Feeding difficulties ORPHA:95715
Parkinson Disease 21
Bradykinesia, Lewy bodies OMIM:616361
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal pseudo-obstruction, ... OMIM:619350
Inflammatory Skin And Bowel Disease, Neonatal, 2
Secretory diarrhea, Vomiting OMIM:616069
Microcephaly 27, Primary, Autosomal Dominant
Chronic constipation OMIM:619180
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Gastroesophageal reflux, Constipation, Ataxia, Feeding difficulties ORPHA:562528
Infant Botulism
Anorexia, Bowel incontinence, Abdominal pain, Xerostomia, Constipation, Dysphagia ORPHA:178478
Iatrogenic Botulism
Constipation, Xerostomia, Dysphagia ORPHA:254509
Hyperinsulinemic Hypoglycemia, Familial, 8
Chronic constipation OMIM:620211
Congenital Toxoplasmosis
Diarrhea ORPHA:858
Biotinidase Deficiency
Ataxia, Feeding difficulties in infancy, Diarrhea, Vomiting, Lethargy OMIM:253260
Intellectual Developmental Disorder, Autosomal Dominant 61
Chronic constipation OMIM:618009
Intellectual Developmental Disorder, Autosomal Dominant 43
Gastroesophageal reflux, Feeding difficulties, Ataxia, Chronic constipation OMIM:616977
Gastrointestinal Stromal Tumor
Intestinal obstruction, Constipation, Dysphagia OMIM:606764
African Trypanosomiasis
Akinesia, Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Choreoath... ORPHA:3385
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Neurodegeneration With Brain Iron Accumulation 2B
Neurofibrillary tangles, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Lewy bodies OMIM:610217
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Spastic Paraplegia 54, Autosomal Recessive
Constipation, Bowel incontinence, Dysphagia OMIM:615033
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Constipation, Vomiting OMIM:125800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Constipation, Vomiting OMIM:304800
Reticular Dysgenesis
Diarrhea ORPHA:33355
Immunodeficiency 15B
Chronic diarrhea OMIM:615592
Rahman Syndrome
Chronic constipation, Feeding difficulties OMIM:617537
Schuurs-Hoeijmakers Syndrome
Constipation, Feeding difficulties OMIM:615009
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Intellectual Developmental Disorder, X-Linked 99
Chronic constipation, Gastroesophageal reflux OMIM:300919
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function ORPHA:79319
Adiposis Dolorosa
Constipation, Xerostomia, Diarrhea ORPHA:36397
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea ORPHA:309108
Proximal Spinal Muscular Atrophy
Gastroparesis, Inability to walk, Constipation, Gastroesophageal reflux, Difficulty walking, Dysp... ORPHA:70
Radio-Tartaglia Syndrome
Ataxia, Gastroesophageal reflux, Constipation, Gait imbalance, Dysphagia OMIM:619312
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Immunodeficiency 46
Chronic diarrhea OMIM:616740
Fg Syndrome 3
Chronic constipation, Feeding difficulties OMIM:300406
Developmental And Epileptic Encephalopathy 2
Inability to walk, Constipation, Gastroesophageal reflux OMIM:300672
Yuan-Harel-Lupski Syndrome
Broad-based gait, Unsteady gait, Feeding difficulties, Gait ataxia, Chronic constipation OMIM:616652
Immunodeficiency 57 With Autoinflammation
Diarrhea, Gastritis, Inflammation of the large intestine OMIM:618108
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Melena, Blood... ORPHA:100080
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Chronic constipation, Ataxia OMIM:619428
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Immunodeficiency, Common Variable, 2
Diarrhea OMIM:240500
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Gait disturbance OMIM:300986
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Congenital Disorder Of Glycosylation, Type Iu
Hypokinesia OMIM:615042
Familial Hypoaldosteronism
Nausea and vomiting, Lethargy, Diarrhea, Feeding difficulties ORPHA:427
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation OMIM:608654
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ataxia, Bowel incontinence, Inability to walk, Feeding difficulties, Constipation OMIM:617193
Early-Onset Lafora Body Disease
Ataxia, Lafora bodies ORPHA:324290
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Feeding difficulties in infancy, Constipation OMIM:618659
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Diarrhea, Gait ataxia, Vomiting, Lethargy, Episodic vomiting OMIM:618321
Wound Botulism
Constipation, Dysphagia ORPHA:178475
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Inability to walk, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, D... OMIM:300260
Qazi-Markouizos Syndrome
Chronic constipation, Abdominal distention ORPHA:3010
Smith-Magenis Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Gait disturbance ORPHA:819
Alg8-Cdg
Diarrhea, Ataxia, Vomiting, Feeding difficulties ORPHA:79325
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Chronic constipation OMIM:300676
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Inability to walk, Feeding difficulties, Gait ataxia, Chronic constipation, Poor suck OMIM:619383
Urofacial Syndrome 2
Constipation OMIM:615112
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Constipation, Feeding difficulties ORPHA:284169
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea OMIM:615285
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Chronic diarrhea, Anorexia, Abdominal pain ORPHA:65682
19P13.3 Microduplication Syndrome
Gastroesophageal reflux, Constipation, Episodic vomiting ORPHA:447980
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Tip-toe gait, Constipation, Intermittent diarrhea OMIM:618050
Developmental And Epileptic Encephalopathy 28
Hypokinesia OMIM:616211
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Neuroblastoma, Susceptibility To, 1
Diarrhea, Ataxia, Abdominal pain OMIM:256700
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Inability to walk, Feeding difficulties, Ataxia, Chronic constipation ORPHA:505237
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Thyroid Hypoplasia
Abdominal distention, Constipation ORPHA:95720
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea ORPHA:277
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Inability to walk, Chronic constipation, Feeding difficulties OMIM:617452
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent aphthous stomatitis OMIM:150550
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Unsteady gait, Constipation OMIM:618493
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Feeding difficulties in infancy, Chronic constipation OMIM:618825
Angiostrongyliasis
Projectile vomiting, Poor appetite, Abdominal pain, Constipation, Vomiting, Nausea ORPHA:74
Smith-Magenis Syndrome
Constipation OMIM:182290
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Galactosemia I
Diarrhea, Vomiting, Decreased liver function OMIM:230400
Houge-Janssens Syndrome 1
Chronic diarrhea, Gait ataxia OMIM:616355
Coffin-Siris Syndrome 7
Constipation, Feeding difficulties OMIM:618027
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Diarrhea, Gastrointestinal dysmotility, Protracted diarrh... ORPHA:67
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Vomiting OMIM:175500
13Q12.3 Microdeletion Syndrome
Constipation, Vomiting ORPHA:412035
Stevenson-Carey Syndrome
Constipation, Gastroesophageal reflux OMIM:611961
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Nasogastric tube feeding in infancy, Constipation, Feeding difficulties ORPHA:371364
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Diarrhea, Vomiting ORPHA:263455
Progressive Non-Fluent Aphasia
Neurofibrillary tangles, Abnormal lower motor neuron morphology, Lewy bodies ORPHA:100070
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Ataxia ORPHA:1020
Immunodeficiency 27A
Diarrhea, Anorexia OMIM:209950
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Chronic diarrhea, Gait ataxia OMIM:300953
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Colitis OMIM:619281
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Gastrointestinal dys... ORPHA:2131
Rett Syndrome, Congenital Variant
Athetosis, Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:613454
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, P... ORPHA:100075
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation, Lethargy ORPHA:199299
Isolated Agammaglobulinemia
Diarrhea ORPHA:229717
Snakebite Envenomation
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea ORPHA:449285
Immunodeficiency, Common Variable, 1
Diarrhea OMIM:607594
Lynch Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Constipation, Gait disturbance ORPHA:144
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Diarrhea, Ataxia, Abdominal pain ORPHA:36412
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Constipation OMIM:604320
Hypothyroidism Due To Tsh Receptor Mutations
Feeding difficulties in infancy, Lethargy, Constipation ORPHA:90673
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Diarrhea, Anorexia, Protracted diarrhea ORPHA:169160
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Progressive cerebellar ataxia, Ataxia, Lafora bodies OMIM:616640
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea OMIM:614069
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting ORPHA:79456
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Chronic constipation, Feeding difficulties OMIM:619056
Squalene Synthase Deficiency
Constipation, Gastrostomy tube feeding in infancy OMIM:618156
Pure Autonomic Failure
Constipation ORPHA:441
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea OMIM:618495
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Constipation, Gastrostomy tube feeding in infancy ORPHA:457351
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Constipation, Feeding difficulties OMIM:239300
Aa Amyloidosis
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Celiac Disease, Susceptibility To, 1
Ataxia, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stomatitis, ... OMIM:212750
Wiedemann-Steiner Syndrome
Broad-based gait, Constipation, Feeding difficulties OMIM:605130
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Vomiting, Decreased liver function OMIM:608104
Dpm1-Cdg
Diarrhea, Ataxia, Gastrostomy tube feeding in infancy ORPHA:79322
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Constipation, Anorexia, Feeding difficulties ORPHA:223
Cronkhite-Canada Syndrome
Diarrhea, Anorexia, Abdominal pain ORPHA:2930
Yao Syndrome
Diarrhea, Xerostomia, Abdominal pain OMIM:617321
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intestinal pseudo-obstruction, Constipation ORPHA:73246
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Episodic vomiting, Secretory diarrhea, Enterocolitis OMIM:616050
Legionnaires Disease
Nausea and vomiting, Ataxia, Anorexia, Abdominal pain, Diarrhea ORPHA:549
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Ataxia, Gait disturbance, Loss of ambulation, Lewy bodies OMIM:614298
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,... ORPHA:500055
Typical Nemaline Myopathy
Waddling gait, Gait disturbance, Hypokinesia ORPHA:171436
Blue Diaper Syndrome
Diarrhea ORPHA:94086
Developmental And Epileptic Encephalopathy 95
Ataxia, Inability to walk, Feeding difficulties, Constipation, Gait disturbance OMIM:618143
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Colitis, Recurrent aphthous stomatitis, Abdominal pain OMIM:613960
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Constipation, Gastroesophageal reflux OMIM:616266
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... OMIM:619482
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Constipation, Gait disturbance ORPHA:440437
Temple-Baraitser Syndrome
Constipation ORPHA:420561
Basilicata-Akhtar Syndrome
Chronic constipation, Gastroesophageal reflux, Feeding difficulties OMIM:301032
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Vomiting OMIM:223900
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, Vomiting OMIM:601110
Developmental And Epileptic Encephalopathy 50
Broad-based gait, Diarrhea, Dysphagia OMIM:616457
Autoinflammatory-Pancytopenia Syndrome
Chronic diarrhea, Intestinal inflammation OMIM:619858
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea ORPHA:1842
Hypophosphatasia, Infantile
Constipation, Vomiting, Anorexia OMIM:241500
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Malnutrition, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Constipation,... ORPHA:99027
Boutonneuse Fever
Diarrhea, Nausea, Abdominal pain ORPHA:83313
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Recurrent infection of the gastrointestinal tract, Protracted diarrhea, Gait ataxia ORPHA:572
Lead Poisoning
Anorexia, Abdominal pain, Abdominal distention, Constipation, Vomiting, Abdominal cramps, Nausea ORPHA:330015
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Chronic diarrhea OMIM:618523
Congenital Disorder Of Glycosylation, Type Ib
Diarrhea, Hepatic failure, Vomiting, Steatorrhea OMIM:602579
Caspase 8 Deficiency
Chronic diarrhea OMIM:607271
Nizon-Isidor Syndrome
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux OMIM:618872
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97278
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Vomiting, Abdominal cramps, Lethargy ORPHA:173
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
American Trypanosomiasis
Achalasia, Abnormal large intestine physiology, Diarrhea, Abdominal pain ORPHA:3386
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Proprotein Convertase 1/3 Deficiency
Diarrhea OMIM:600955
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Ataxia, Gait ataxia OMIM:257220
Hereditary Folate Malabsorption
Nausea and vomiting, Diarrhea, Gastroesophageal reflux, Anorexia ORPHA:90045
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting, Lethargy ORPHA:71212
Developmental And Epileptic Encephalopathy 31B
Feeding difficulties, Constipation, Tube feeding OMIM:620352
Leukodystrophy, Hypomyelinating, 12
Constipation OMIM:616683
White-Sutton Syndrome
Waddling gait, Feeding difficulties, Constipation, Gastroesophageal reflux, Poor suck OMIM:616364
Turcot Syndrome With Polyposis
Ataxia, Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea ORPHA:99818
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Constipation ORPHA:466934
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Lewy bodies OMIM:607060
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Diarrhea, Malnutrition, Dysmetria, Spastic gait ORPHA:96180
Satoyoshi Syndrome
Diarrhea OMIM:600705
Intellectual Disability-Strabismus Syndrome
Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Gait disturbance, Recurrent ... ORPHA:363528
Prune Belly Syndrome
Constipation ORPHA:2970
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Constipation, Gastroesophageal reflux, Gastroparesis OMIM:610131
Intellectual Developmental Disorder, Autosomal Dominant 1
Gastroesophageal reflux, Constipation, Ataxia, Feeding difficulties OMIM:156200
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea ORPHA:71
Autosomal Dominant Progressive External Ophthalmoplegia
Ataxia, Gastroparesis, Gait ataxia, Bradykinesia, Gait disturbance, Gastroesophageal reflux, Cons... ORPHA:254892
Nabais Sa-De Vries Syndrome, Type 2
Feeding difficulties in infancy, Chronic constipation, Gastroesophageal reflux OMIM:618829
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Gastroesophageal reflux, Constipation, Episodic vomiting, Feeding difficulties OMIM:617360
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Abdominal cramps, Decreased live... ORPHA:98850
Alg1-Cdg
Chronic diarrhea, Decreased liver function ORPHA:79327
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite ORPHA:2221
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis OMIM:618394
Severe Combined Immunodeficiency, X-Linked
Chronic diarrhea OMIM:300400
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Episodic abdominal pain, Constipation, Vomiting ORPHA:361
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Dysphagia ORPHA:99824
Alg11-Cdg
Ataxia, Hypokinesia ORPHA:280071
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Inability to walk, Gastroesophageal reflux, Constipation, Dysphagia OMIM:619229
German Syndrome
Hypokinesia ORPHA:2077
Emanuel Syndrome
Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:609029
Cerebrotendinous Xanthomatosis
Diarrhea, Pseudobulbar paralysis, Ataxia, Difficulty walking OMIM:213700
Whipple Disease
Gastrointestinal hemorrhage, Ataxia, Anorexia, Abdominal pain, Diarrhea ORPHA:3452
Congenital Disorder Of Glycosylation, Type Iit
Constipation, Feeding difficulties OMIM:618885
Fg Syndrome Type 1
Broad-based gait, Gastroesophageal reflux, Constipation ORPHA:93932
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia ORPHA:1332
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... ORPHA:486
Immunodeficiency 7
Diarrhea OMIM:615387
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Constipation, Dysphagia ORPHA:44890
Kaposi Sarcoma
Diarrhea ORPHA:33276
Alexander Disease
Nausea and vomiting, Ataxia, Bowel incontinence, Constipation, Gait disturbance, Dysphagia ORPHA:58
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea ORPHA:411703
Beta-Ketothiolase Deficiency
Diarrhea, Ataxia, Vomiting, Anorexia ORPHA:134
Emanuel Syndrome
Constipation, Feeding difficulties, Gastroesophageal reflux, Dysphagia ORPHA:96170
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Malnutrition, Constipation, Dysphagia OMIM:226600
Bile Acid Synthesis Defect, Congenital, 1
Diarrhea, Hepatic failure, Steatorrhea OMIM:607765
Gitelman Syndrome
Constipation, Ataxia, Vomiting, Abdominal pain OMIM:263800
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Vomiting, Nausea, Poor appetite ORPHA:542323
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles OMIM:608907
Porphyria Variegata
Ileus, Constipation, Nausea, Abdominal pain ORPHA:79473
Autosomal Recessive Spastic Paraplegia Type 20
Constipation, Spastic gait, Dysphagia ORPHA:101000
B4Galt1-Cdg
Diarrhea ORPHA:79332
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea OMIM:601847
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Melas
Ataxia, Intestinal pseudo-obstruction, Diarrhea, Gastrointestinal dysmotility, Gait disturbance, ... ORPHA:550
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation ORPHA:261222
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Chronic constipation, Gastroesophageal reflux OMIM:619721
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Feeding difficulties in infancy, Chronic constipation, Broad-based gait ORPHA:477817
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Dyspepsia, Intestinal obstruction, Abdominal pain, Diarrhea, Gastroe... ORPHA:85450
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97283
Mevalonic Aciduria
Progressive cerebellar ataxia, Diarrhea, Ataxia, Vomiting OMIM:610377
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Gait imbalance, Gait disturbance, Con... OMIM:300966
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Vomiting, Diarrhea, Abdominal pain OMIM:226300
9Q33.3Q34.11 Microdeletion Syndrome
Inability to walk, Constipation, Esophagitis, Dysphagia ORPHA:495818
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence ORPHA:330001
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Lewy bodies, Shuffling gait ORPHA:171695
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea OMIM:211600
Immunodeficiency, Common Variable, 14
Chronic diarrhea OMIM:617765
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Atrophic gastritis, Crohn's disease OMIM:616100
Axial Mesodermal Dysplasia Spectrum
Constipation, Gastroesophageal reflux ORPHA:1834
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97280
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Relapsing Fever
Diarrhea, Vomiting, Abdominal pain ORPHA:91547
Eales Disease
Constipation ORPHA:40923
Kapur-Toriello Syndrome
Constipation ORPHA:2328
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea OMIM:301500
Radiation Proctitis
Hematochezia, Intestinal obstruction, Diarrhea, Tenesmus ORPHA:70475
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97261
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Feeding difficulties in infancy, Gait ataxia, Chronic constipation, Poor suck, Gastrostomy tube f... ORPHA:476126
Congenital Myopathy 20
Chronic diarrhea OMIM:620310
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Anorexia, Reye syndrome-like episodes, Diarrhea, Lethargy, Episodic vomiting ORPHA:20
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Bowel incontinence, Feeding difficulties, Chronic constipation, Dysphagia ORPHA:496641
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Abdominal pain OMIM:106100
Chromosome Xq13 Duplication Syndrome
Chronic constipation OMIM:301069
Pitt-Hopkins Syndrome
Constipation, Gastroesophageal reflux, Gait ataxia OMIM:610954
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Constipation, Ileus, Ataxia, Abdominal pain ORPHA:163746
Wolfram Syndrome
Gastrointestinal hemorrhage, Feeding difficulties in infancy, Constipation, Ataxia ORPHA:3463
Autosomal Agammaglobulinemia
Diarrhea ORPHA:33110
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Chronic constipation, Feeding difficulties ORPHA:363686
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Diarrhea, Hepatic failure, Steatorrhea OMIM:613812
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Vomiting, Protuberant abdomen, Steatorrhea, Hepatic failure OMIM:278000
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea ORPHA:100093
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Chronic diarrhea, Abdominal pain OMIM:617099
Vesicoureteral Reflux 3
Chronic constipation OMIM:613674
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Constipation, Nonprogressive cerebellar ataxia ORPHA:314647
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abdominal pain ORPHA:54251
Isolated Thyroid-Stimulating Hormone Deficiency
Feeding difficulties in infancy, Lethargy, Constipation ORPHA:90674
Imerslund-Gräsbeck Syndrome
Constipation, Vomiting, Poor appetite ORPHA:35858
Pontocerebellar Hypoplasia, Type 10
Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:615803
Citrullinemia Type Ii
Lethargy, Diarrhea, Vomiting ORPHA:247585
Intellectual Developmental Disorder, Autosomal Dominant 64
Chronic constipation, Feeding difficulties OMIM:619188
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypokinesia OMIM:613320
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Encopresis, Unsteady gait, Feeding difficulties, Gastroesophageal reflux, Constipation, Loss of a... OMIM:616682
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Lethargy, Constipation, Abdominal distention OMIM:218700
Kilquist Syndrome
Gastroesophageal reflux, Feeding difficulties, Xerostomia, Chronic constipation OMIM:619080
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting, Steatorrhea ORPHA:92050
Silver-Russell Syndrome
Constipation, Gastroesophageal reflux, Feeding difficulties ORPHA:813
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Chronic diarrhea, Feeding difficulties, Dysphagia OMIM:620358
Specific Granule Deficiency 2
Intractable diarrhea OMIM:617475
Basel-Vanagaite-Smirin-Yosef Syndrome
Constipation, Gastroesophageal reflux OMIM:616449
Graft Versus Host Disease
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroenteritis, Sto... ORPHA:39812
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Vomiting OMIM:618076
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Peritonitis, Gastroin... ORPHA:727
Pitt-Hopkins Syndrome
Ataxia, Gait ataxia, Feeding difficulties, Gastroesophageal reflux, Constipation, Esophagitis ORPHA:2896
Intellectual Developmental Disorder, Autosomal Dominant 52
Chronic constipation, Feeding difficulties OMIM:617796
48,Xxxy Syndrome
Constipation, Gastroesophageal reflux ORPHA:96263
Immunodeficiency 85 And Autoimmunity
Chronic diarrhea, Vomiting, Tube feeding OMIM:619510
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Poor appetite, Inability to walk, Gastrointestinal dysmotility, Feeding difficulties, Chr... OMIM:617799
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Myopathy, Centronuclear, X-Linked
Hypokinesia OMIM:310400
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Constipation, Difficulty walking ORPHA:464738
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting ORPHA:3240
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles OMIM:606688
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea OMIM:614328
49,Xxxxy Syndrome
Constipation, Gastroesophageal reflux ORPHA:96264
Caribbean Parkinsonism
Bradykinesia, Progressive gait ataxia, Lewy bodies ORPHA:97355
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea OMIM:619824
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea OMIM:602347
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Chronic constipation, Feeding difficulties, Dysphagia OMIM:617061
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Broad-based gait, Ataxia, Reye syndrome-like episodes, Diarrhea, Abdominal... OMIM:256810
Dementia, Lewy Body
Lewy bodies OMIM:127750
Lipodystrophy, Congenital Generalized, Type 4
Feeding difficulties, Ileus, Constipation, Dysphagia OMIM:613327
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Feeding difficulties in infancy, Diarrhea, Dysmetria, Vomiting, Steatorrhea OMIM:212065
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Sandhoff Disease
Chronic diarrhea, Ataxia, Episodic abdominal pain OMIM:268800
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Peritonitis, ... ORPHA:342
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Diarrhea, Ataxia, Anorexia ORPHA:33226
Familial Mediterranean Fever
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... OMIM:249100
16P12.1P12.3 Triplication Syndrome
Chronic constipation ORPHA:485405
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Lethargy, Diarrhea, Vomiting OMIM:608836
Hereditary Angioedema Type 1
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea ORPHA:100050
Poliomyelitis
Diminished movement, Inability to walk ORPHA:2912
Immunodeficiency 40
Intermittent diarrhea, Focal active colitis, Chronic diarrhea OMIM:616433
Immunodeficiency 56
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic failure OMIM:615207
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Malnutrition, Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia, Gastrostomy... ORPHA:89842
Rubinstein-Taybi Syndrome
Feeding difficulties in infancy, Constipation ORPHA:783
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Inflammation of the large intestine, Chronic diarrhea ORPHA:98813
Systemic Capillary Leak Syndrome
Diarrhea, Abdominal pain ORPHA:188
Shigellosis
Anorexia, Abdominal pain, Peritonitis, Ulcerative colitis, Bloody diarrhea, Paralytic ileus, Bloo... ORPHA:810
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Atrophic gastritis, Crohn's disease, Inflammation of the large intestine ORPHA:436159
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea OMIM:242860
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Chronic constipation, Feeding difficulties ORPHA:404440
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Ataxia OMIM:607625
Okur-Chung Neurodevelopmental Syndrome
Constipation, Ataxia, Feeding difficulties OMIM:617062
Immunodeficiency 97 With Autoinflammation
Diarrhea, Colitis, Enterocolitis, Abdominal pain OMIM:619802
Septo-Optic Dysplasia Spectrum
Constipation ORPHA:3157
Cockayne Syndrome Type 1
Diarrhea, Difficulty walking, Ataxia, Gait disturbance ORPHA:90321
Familial Pancreatic Carcinoma
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Poor appet... ORPHA:1333
Solitary Fibrous Tumor
Constipation ORPHA:2126
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Chronic constipation, Gastroesophageal reflux OMIM:619720
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Abdominal pain, Diarrhea, Peritonitis, Constipation, Vomiting ORPHA:32960
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Poor appetite, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Vomiting, ... ORPHA:96182
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal reflux, Lethargy OMIM:620233
Leiomyomatosis, Diffuse, With Alport Syndrome
Constipation, Vomiting, Dysphagia OMIM:308940
Hyperparathyroidism, Neonatal Severe
Feeding difficulties in infancy, Constipation OMIM:239200
Malt Lymphoma
Nausea and vomiting, Constipation, Abdominal pain ORPHA:52417
Acute Radiation Syndrome
Diarrhea, Vomiting ORPHA:454831
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:93552
Mucopolysaccharidosis Type 3
Ataxia, Gait disturbance, Constipation, Protuberant abdomen, Dysphagia, Loss of ambulation, Inter... ORPHA:581
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Abdominal pain, Diarrhea, Chronic constipation, Inflammation of the large inte... OMIM:301074
Sepsis In Premature Infants
Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Enterocolitis, Functional abnormali... ORPHA:90051
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lewy bodies OMIM:607485
Kleefstra Syndrome
Constipation, Gastroesophageal reflux, Bowel incontinence ORPHA:261494
Cardiofaciocutaneous Syndrome 1
Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Vomiting, Gastrostomy tub... OMIM:115150
Microcephaly 26, Primary, Autosomal Dominant
Chronic constipation, Feeding difficulties OMIM:619179
Magel2-Related Prader-Willi-Like Syndrome
Xerostomia, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Lethargy, Poor s... ORPHA:398069
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea ORPHA:100085
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Vomiting OMIM:610768
Avian Influenza
Diarrhea, Vomiting, Abdominal pain ORPHA:454836
Kapur-Toriello Syndrome
Constipation OMIM:244300
Hyperekplexia 1
Hypokinesia OMIM:149400
Alobar Holoprosencephaly
Inability to walk, Feeding difficulties, Constipation, Vomiting, Gastroesophageal reflux, Dysphag... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Feeding difficulties, Constipation, Vomiting, Gastroesophageal reflux, Dysphag... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Feeding difficulties, Constipation, Vomiting, Gastroesophageal reflux, Dysphag... ORPHA:93924
Semilobar Holoprosencephaly
Inability to walk, Feeding difficulties, Constipation, Vomiting, Gastroesophageal reflux, Dysphag... ORPHA:220386
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Severe Congenital Nemaline Myopathy
Hypokinesia ORPHA:171430
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea ORPHA:139411
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea OMIM:614441
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... ORPHA:309031
Immunodeficiency 22
Diarrhea, Protracted diarrhea OMIM:615758
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Constipation, Gastroesophageal reflux, Dysphagia OMIM:620029
Immunodeficiency 25
Protracted diarrhea OMIM:610163
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Abdominal pain OMIM:174900
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Intermittent diarrhea OMIM:619644
Chromosome 6Pter-P24 Deletion Syndrome
Chronic constipation OMIM:612582
Pediatric-Onset Graves Disease
Nausea and vomiting, Diarrhea ORPHA:525731
Mucopolysaccharidosis, Type Iiid
Diarrhea, Tube feeding, Difficulty walking, Dysphagia OMIM:252940
Rauch-Steindl Syndrome
Chronic constipation, Feeding difficulties, Exocrine pancreatic insufficiency OMIM:619695
Acute Adrenal Insufficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation ORPHA:95409
Chops Syndrome
Constipation, Gastroesophageal reflux, Gastroparesis OMIM:616368
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea OMIM:619313
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Thyroid Ectopia
Abdominal distention, Constipation ORPHA:95712
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Nausea and vomiting ORPHA:847
Riddle Syndrome
Diarrhea, Ataxia, Gait disturbance, Abdominal pain ORPHA:420741
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea ORPHA:324636
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Inability to walk,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Inability to walk,... ORPHA:352665
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Gastroesophageal reflux, Diarrhea, Ataxia, Nasogastric tube feeding ORPHA:221139
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Feeding difficulties OMIM:616430
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea, Unsteady gait, Ataxia ORPHA:457279
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Constipation ORPHA:369950
Nail-Patella Syndrome
Tip-toe gait, Constipation ORPHA:2614
Combined Oxidative Phosphorylation Deficiency 55
Constipation OMIM:619743
Myoclonic Epilepsy Of Lafora
Gait disturbance, Lafora bodies OMIM:254780
Kagami-Ogata Syndrome
Feeding difficulties, Constipation, Poor suck, Dysphagia ORPHA:254519
Japanese Encephalitis
Anorexia, Abdominal pain, Diarrhea, Choreoathetosis, Vomiting ORPHA:79139
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Constipation, Gastroesophageal reflux, Poor suck OMIM:301040
Spondyloepimetaphyseal Dysplasia, Krakow Type
Constipation, Feeding difficulties OMIM:618162
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Abdominal pain, Constipation, Dysphagia ORPHA:93672
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Nasogastric tube feeding in infancy, Constipation, Gastrointestinal dysmotility, Gastroesophageal... ORPHA:453499
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Gastrointestinal dysmotility, Feeding difficulties, Constipation, Gastroesophageal reflux, Dyspha... ORPHA:466943
Lujo Hemorrhagic Fever
Fulminant hepatitis, Diarrhea, Odynophagia, Vomiting, Abdominal cramps, Dysphagia, Nausea ORPHA:319213
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... ORPHA:275761
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Constipation OMIM:162300
Bronchial Neuroendocrine Tumor
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure ORPHA:97287
Musculocontractural Ehlers-Danlos Syndrome
Constipation ORPHA:2953
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Nausea ORPHA:79240
Ohdo Syndrome, X-Linked
Constipation, Feeding difficulties OMIM:300895
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesopha... ORPHA:268261
Distal Renal Tubular Acidosis
Constipation, Poor appetite, Vomiting, Diarrhea ORPHA:18
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Feeding difficulties in infancy, Gait ataxia, Constipation, Gastroesophageal re... ORPHA:513456
Hyper-Igd Syndrome
Diarrhea, Chronic diarrhea, Vomiting, Abdominal pain OMIM:260920
Acute Transverse Myelitis
Paralytic ileus, Constipation, Gait disturbance, Gastroparesis ORPHA:139417
Cartilage-Hair Hypoplasia
Constipation OMIM:250250
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea OMIM:614576
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis ORPHA:90038
Refractory Celiac Disease
Chronic diarrhea, Malnutrition, Abdominal pain ORPHA:398063
Bacterial Toxic-Shock Syndrome
Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea ORPHA:36234
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Constipation, Anorexia, Abdominal pain ORPHA:49041
Lambert-Eaton Myasthenic Syndrome
Constipation, Xerostomia ORPHA:43393
Sheehan Syndrome
Constipation, Nausea, Poor appetite ORPHA:91355
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Choreoathetosis, Chronic constipation, Gastroesophageal reflux, Dysphagia OMIM:619777
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Constipation OMIM:613603
Multiple Endocrine Neoplasia Type 1
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Constipation, Vomiting, Gastroesophageal... ORPHA:652
Ataxia-Telangiectasia
Ataxia, Inability to walk, Chronic diarrhea, Choreoathetosis, Progressive cerebellar ataxia, Dysd... OMIM:208900
X-Linked Agammaglobulinemia
Chronic diarrhea ORPHA:47
Parkinson Disease 4, Autosomal Dominant
Lewy bodies OMIM:605543
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Nausea ORPHA:264580
Kaufman Oculocerebrofacial Syndrome
Feeding difficulties in infancy, Constipation OMIM:244450
Mucopolysaccharidosis, Type Ii
Diarrhea, Intestinal pseudo-obstruction OMIM:309900
Pudendal Neuralgia
Abdominal colic, Constipation, Episodic abdominal pain ORPHA:60039
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Constipation, Feeding difficulties OMIM:616728
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Gastrostomy tube feed... OMIM:613385
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Diarrhea OMIM:308230
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Diarrhea OMIM:240300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Nasogastric tube feeding, Constipation, Gastroesophageal reflux, Dysphagia ORPHA:466950
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea ORPHA:3217
Intellectual Developmental Disorder, Autosomal Dominant 68
Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:619934
Good Syndrome
Diarrhea, Dysphagia ORPHA:169105
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Shwachman-Diamond Syndrome 2
Diarrhea, Steatorrhea, Exocrine pancreatic insufficiency OMIM:617941
Infection-Related Hemolytic Uremic Syndrome
Abdominal pain, Diarrhea, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomi... ORPHA:544482
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Diarrhea... ORPHA:36426
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea ORPHA:276
Familial Gestational Hyperthyroidism
Diarrhea ORPHA:99819
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting ORPHA:230
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Intermi... ORPHA:100078
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Chronic constipation OMIM:300472
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Abdominal pain, Hematemesis, Diarrhea, Peritonitis, Enter... ORPHA:73263
Pearson Marrow-Pancreas Syndrome
Anorexia, Chronic diarrhea, Vomiting, Steatorrhea, Lethargy, Hepatic failure, Exocrine pancreatic... OMIM:557000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Ileus OMIM:304790
Colchicine Poisoning
Diarrhea, Vomiting, Nausea ORPHA:31824
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Feeding difficulties in infancy, Lethargy, Constipation ORPHA:226307
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Inabil... ORPHA:273
Immunodeficiency 92
Chronic diarrhea, Esophagitis OMIM:619652
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Hypokinesia ORPHA:258
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Diarrhea, Chronic hepatic failure, Recurrent gastroenteritis ORPHA:79124
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Hematochezia, Melena, Intestinal bleeding ORPHA:79076
White-Sutton Syndrome
Feeding difficulties in infancy, Chronic constipation, Gastroesophageal reflux, Feeding difficulties ORPHA:468678
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea ORPHA:424
Abetalipoproteinemia
Broad-based gait, Ataxia, Chronic diarrhea, Dysmetria, Gait ataxia, Steppage gait, Vomiting, Stea... ORPHA:14
Omenn Syndrome
Diarrhea OMIM:603554
Bare Lymphocyte Syndrome, Type Ii
Colitis, Protracted diarrhea OMIM:209920
Omenn Syndrome
Chronic diarrhea ORPHA:39041
Listeriosis
Ataxia, Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea ORPHA:533
Addison Disease
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation ORPHA:85138
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Intestinal obstruction, Enterocolitis, Bloody diarrhea OMIM:243150
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Nicolaides-Baraitser Syndrome
Feeding difficulties, Constipation, Gait ataxia OMIM:601358
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis OMIM:301220
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Ataxia, Abdominal pain, Feeding difficulties, Tip-toe gait, Falls, Vomiting, Co... OMIM:619475
Combined Immunodeficiency Due To Zap70 Deficiency
Stomatitis, Chronic diarrhea, Colitis, Recurrent infection of the gastrointestinal tract ORPHA:911
Infantile Nephropathic Cystinosis
Constipation, Vomiting ORPHA:411629
Osteootohepatoenteric Syndrome
Episodic vomiting, Secretory diarrhea, Increased intestinal transit time, Abdominal pain OMIM:619377
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Nausea, Abdominal pain ORPHA:98849
Plague
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Unsteady gait, Enterocolitis, Bloody diarrhea, I... ORPHA:707
Opitz-Kaveggia Syndrome
Constipation OMIM:305450
Au-Kline Syndrome
Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:616580
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... ORPHA:913
Congenital Heart Defects And Skeletal Malformations Syndrome
Chronic constipation OMIM:617602
Mitchell-Riley Syndrome
Diarrhea OMIM:615710
Helsmoortel-Van Der Aa Syndrome
Chronic diarrhea, Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia, Episodi... OMIM:615873
Lysinuric Protein Intolerance
Protein avoidance, Diarrhea, Malnutrition, Vomiting, Nausea OMIM:222700
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
T-Cell Immunodeficiency With Thymic Aplasia
Chronic diarrhea OMIM:242700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea ORPHA:169154
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Bradykinesia ORPHA:199351
Central Hypoventilation Syndrome, Congenital, 1
Chronic constipation, Ineffective esophageal peristalsis, Feeding difficulties OMIM:209880
Infantile Systemic Hyalinosis
Chronic diarrhea, Feeding difficulties, Steatorrhea ORPHA:2176
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Constipation, Episodic abdominal pain, Dysphagia ORPHA:99880
Primary Intestinal Lymphangiectasia
Chronic diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain ORPHA:90362
Isolated Posterior Meningocele
Hypokinesia, Difficulty walking ORPHA:268810
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Chronic constipation, Gait disturbance, Feeding difficulties OMIM:213980
Dominant Beta-Thalassemia
Diarrhea, Feeding difficulties ORPHA:231226
Mogs-Cdg
Chronic constipation, Nasogastric tube feeding ORPHA:79330
Holoprosencephaly
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux ORPHA:2162
Parathyroid Carcinoma
Nausea and vomiting, Constipation, Episodic abdominal pain, Dysphagia ORPHA:143
Aicardi Syndrome
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux ORPHA:50
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea OMIM:616005
7Q11.23 Microduplication Syndrome
Chronic constipation, Unsteady gait, Dysmetria ORPHA:96121
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Chronic diarrhea, Abdominal pain OMIM:615895
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Chronic constipation ORPHA:544488
Immunodeficiency 58
Helicobacter pylori infection, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis, Esophagi... OMIM:618131
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Athetosis, Chronic constipation, Impaired oropharyngeal swallow response, Impa... ORPHA:404454
Ramos-Arroyo Syndrome
Feeding difficulties in infancy, Chronic constipation, Xerostomia ORPHA:1051
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Atrophic gastritis, Colitis, Inflammation of the large intestine OMIM:614700
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Lewy bodies ORPHA:1320
Acrodermatitis Enteropathica
Poor appetite, Chronic diarrhea, Anorexia ORPHA:37
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic constipation, Chronic diarrhea OMIM:619005
Reactive Arthritis
Inflammation of the large intestine, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain ORPHA:29207
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Feeding difficulties OMIM:615846
Immunodeficiency 55
Diarrhea OMIM:617827
Mirage Syndrome
Achalasia, Chronic diarrhea, Gastroesophageal reflux OMIM:617053
Mednik Syndrome
Diarrhea OMIM:609313
Marburg Hemorrhagic Fever
Anorexia, Abdominal pain, Diarrhea, Odynophagia, Bloody diarrhea, Vomiting, Lethargy, Nausea ORPHA:99826
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea OMIM:307200
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Diarrhea, Constipation ORPHA:653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Chronic diarrhea OMIM:102700
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Recurrent infection of the gastrointestinal tract ORPHA:83471
Menke-Hennekam Syndrome 2
Chronic constipation OMIM:618333
Leukocyte Adhesion Deficiency Type Ii
Chronic diarrhea, Ataxia, Recurrent gastroenteritis, Impaired tandem gait ORPHA:99843
Curry-Jones Syndrome
Chronic constipation, Intestinal pseudo-obstruction OMIM:601707
Lipodystrophy, Familial Partial, Type 7
Diarrhea, Dysmetria, Gait ataxia, Feeding difficulties, Dysdiadochokinesis, Vomiting, Dysphagia OMIM:606721
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Chronic constipation, Feeding difficulties OMIM:619575
Osteogenesis Imperfecta
Intestinal obstruction, Ataxia, Gait disturbance, Constipation, Dysphagia, Loss of ambulation ORPHA:666
Danon Disease
Hypokinesia OMIM:300257
Acromesomelic Dysplasia 4
Chronic constipation OMIM:619636
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Chronic constipation, Gastroesop... OMIM:614756
Malakoplakia
Diarrhea, Abdominal pain ORPHA:556
Farber Disease
Hepatic failure, Chronic diarrhea, Feeding difficulties ORPHA:333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Ileus, Secretory diarrhea, Colitis, Vomiting, Recurrent gastroenteritis, Dependency on... ORPHA:37042
Beta-Thalassemia Major
Diarrhea, Feeding difficulties ORPHA:231214
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Constipation, Gastroesophageal reflux ORPHA:95699
Rubinstein-Taybi Syndrome 1
Feeding difficulties in infancy, Unsteady gait, Feeding difficulties, Constipation, Gastroesophag... OMIM:180849
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Feeding difficulties in infancy, Chronic constipation, Feeding difficulties OMIM:617506
Rothmund-Thomson Syndrome Type 1
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding ORPHA:221008
Bartter Syndrome, Type 1, Antenatal
Constipation, Vomiting, Diarrhea OMIM:601678
Adnp Syndrome
Oral-pharyngeal dysphagia, Chronic constipation, Gastroesophageal reflux, Vomiting, Gastrostomy t... ORPHA:404448
Lysinuric Protein Intolerance
Diarrhea, Feeding difficulties, Vomiting, Steatorrhea, Lethargy, Hepatic failure ORPHA:470
1P36 Deletion Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Gait disturbance, Dysphagia ORPHA:1606
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea OMIM:601675
Thyrotoxic Periodic Paralysis
Constipation ORPHA:79102
Gitelman Syndrome
Nausea and vomiting, Diarrhea, Constipation, Abdominal pain ORPHA:358
Scorpion Envenomation
Diarrhea, Ataxia, Vomiting, Abdominal pain ORPHA:466677
Deeah Syndrome
Chronic constipation, Chronic diarrhea, Dysphagia, Exocrine pancreatic insufficiency OMIM:619004
Smith-Lemli-Opitz Syndrome
Abdominal distention, Gastrointestinal dysmotility, Feeding difficulties, Gastroesophageal reflux... OMIM:270400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena ORPHA:464321
Rat-Bite Fever
Diarrhea, Vomiting, Parotitis ORPHA:31205
Acute Liver Failure
Gastrointestinal hemorrhage, Ataxia, Diarrhea, Vomiting, Nausea ORPHA:90062
Jacobsen Syndrome
Feeding difficulties in infancy, Constipation ORPHA:2308
Hemorrhagic Fever-Renal Syndrome
Abdominal pain, Hematemesis, Diarrhea, Melena, Vomiting, Nausea ORPHA:340
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea OMIM:606367
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Constipation OMIM:305100
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Diarrhea, Vomiting ORPHA:2909
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Feeding difficulties, Chronic constipation, Tip-toe gait, Gastroesophageal reflux OMIM:619950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Feeding difficulties, Constipation, Gastroesophageal reflux,... ORPHA:438213
Lafora Disease
Inability to walk, Ataxia, Gait disturbance, Lafora bodies ORPHA:501
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea OMIM:158310
Trisomy 8P
Constipation ORPHA:264450
Turnpenny-Fry Syndrome
Feeding difficulties in infancy, Chronic constipation, Constipation, Gastroesophageal reflux OMIM:618371
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Colonic eosinophilia, Bloody diarrhea OMIM:617718
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Bowel incontinence, Feeding difficulties in infancy, Constipation, G... ORPHA:567
Rothmund-Thomson Syndrome Type 2
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding ORPHA:221016
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Feeding difficulties, Gastroesophageal reflux, Decreased liver function, Steato... OMIM:618268
Congenital Disorder Of Glycosylation, Type It
Chronic diarrhea, Vomiting OMIM:614921
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritability, Colitis, Vomiting, Crohn's dis... OMIM:619381
Immunodeficiency 59 And Hypoglycemia
Chronic diarrhea, Recurrent aphthous stomatitis OMIM:233600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Protracted diarrhea ORPHA:331206
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea OMIM:613989
Wilson Disease
Hypoparathyroidism, Hypokinesia OMIM:277900
Alg9-Cdg
Gastroesophageal reflux, Diarrhea, Vomiting ORPHA:79328
Wiskott-Aldrich Syndrome
Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in... OMIM:301000
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Secretory diarrhea, Feeding difficulties OMIM:618183
Cystic Fibrosis
Meconium ileus, Diarrhea, Ileus, Steatorrhea, Exocrine pancreatic insufficiency OMIM:219700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Constipation, Gastroesophageal reflux, Gastrostomy tube feeding in infancy ORPHA:444077
Bartter Syndrome, Type 2, Antenatal
Constipation, Vomiting, Diarrhea OMIM:241200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Chronic diarrhea OMIM:602450
Peutz-Jeghers Syndrome
Abdominal pain, Intestinal bleeding, Bloody diarrhea OMIM:175200
Currarino Syndrome
Chronic constipation, Gastrointestinal obstruction, Abdominal distention OMIM:176450
Sacral Defect With Anterior Meningocele
Constipation OMIM:600145
Oculocerebrorenal Syndrome Of Lowe
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux ORPHA:534
Severe Generalized Junctional Epidermolysis Bullosa
Constipation, Malnutrition, Vomiting, Gastrointestinal inflammation ORPHA:79404
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Chronic diarrhea OMIM:600802
Kinsship Syndrome
Chronic constipation, Gastroesophageal reflux OMIM:619297
Vipoma
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Episodic abdominal pain, Hemato... ORPHA:97282
Immunodeficiency 17
Chronic diarrhea, Recurrent gastroenteritis OMIM:615607
Floating-Harbor Syndrome
Nasogastric tube feeding, Broad-based gait, Gastroesophageal reflux, Constipation ORPHA:2044
Diamond-Blackfan Anemia 21
Chronic diarrhea OMIM:620072
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Enterocolitis, Ulcerative colitis, Inflammation of the large intestine, Protuberant abd... ORPHA:79259
Nmda Receptor Encephalitis
Choreoathetosis, Diarrhea, Vomiting ORPHA:217253
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Nijmegen Breakage Syndrome
Diarrhea, Recurrent infection of the gastrointestinal tract OMIM:251260
Microsporidiosis
Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Vomiting, Intermittent diarrhea, Nausea ORPHA:2552
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Constipation OMIM:620330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Feeding difficulties OMIM:618278
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Leukocyte Adhesion Deficiency, Type I
Chronic diarrhea OMIM:116920
Pearson Syndrome
Ataxia, Chronic diarrhea, Dysphagia, Steatorrhea, Hepatic failure, Poor suck, Exocrine pancreatic... ORPHA:699
Sapho Syndrome
Abdominal pain, Inflammation of the large intestine, Chronic diarrhea, Steatorrhea ORPHA:793
Ectodermal Dysplasia-Skin Fragility Syndrome
Chronic diarrhea, Difficulty walking ORPHA:158668
Hurler Syndrome
Chronic diarrhea, Feeding difficulties ORPHA:93473
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Chronic constipation OMIM:301066
Cocaine Intoxication
Abdominal pain, Bloody diarrhea, Gastrointestinal infarctions, Colitis, Vomiting, Nausea ORPHA:90068
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux ORPHA:3164
Secondary Intestinal Lymphangiectasia
Abdominal colic, Intestinal obstruction, Chronic diarrhea, Intestinal bleeding, Vomiting ORPHA:90363
Immunodeficiency 31C
Diarrhea OMIM:614162
Kawasaki Disease
Nausea and vomiting, Diarrhea, Abdominal pain ORPHA:2331
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Chronic constipation, Feeding difficulties OMIM:619194
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Poor appetite ORPHA:247598
Syndromic Diarrhea
Gastritis, Bloody diarrhea, Colitis, Intractable diarrhea, Dependency on intravenous nutrition ORPHA:84064
Dubowitz Syndrome
Feeding difficulties in infancy, Episodic vomiting, Chronic diarrhea, Gastroesophageal reflux OMIM:223370
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea OMIM:601495
Ogden Syndrome
Diarrhea, Dysphagia, Feeding difficulties, Vomiting, Tube feeding OMIM:300855
Mucopolysaccharidosis, Type Vi
Chronic constipation OMIM:253200
Williams Syndrome
Nausea and vomiting, Ataxia, Abdominal pain, Dysmetria, Gastroesophageal reflux, Gait disturbance... ORPHA:904
X-Linked Intellectual Disability, Nascimento Type
Chronic constipation ORPHA:163956
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Constipation OMIM:601776
Knobloch Syndrome 2
Chronic constipation OMIM:618458
Cerebrotendinous Xanthomatosis
Chronic diarrhea, Gait disturbance, Ataxia ORPHA:909
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... ORPHA:3260
Multiple Endocrine Neoplasia Type 4
Diarrhea, Esophagitis, Episodic abdominal pain ORPHA:276152
Selective Igm Deficiency
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Crohn's disease ORPHA:331235
Williams-Beuren Syndrome
Feeding difficulties in infancy, Chronic constipation, Constipation, Gastroesophageal reflux, Gai... OMIM:194050
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Hepatic failure, Pa... ORPHA:99827
Chronic Graft Versus Host Disease
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Gastroesophageal reflux, Dysphagia, Nausea, Abnor... ORPHA:99921
Faundes-Banka Syndrome
Feeding difficulties in infancy, Chronic constipation, Gastroesophageal reflux, Dysphagia OMIM:619376
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Enterocolitis ORPHA:391487
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Chronic constipation, Gastroesophageal reflux, Feeding difficulties OMIM:619480
Immunodeficiency 47
Chronic diarrhea, Exocrine pancreatic insufficiency OMIM:300972
Yellow Fever
Abdominal pain, Hematemesis, Diarrhea, Vomiting, Nausea ORPHA:99829
Mosaic Trisomy 20
Chronic constipation ORPHA:1724
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Pancolitis, Eosinophilic infiltration of the esophagus, Bloody diarrhea OMIM:618213
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Chikungunya
Diarrhea, Vomiting ORPHA:324625
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Hepatic failure OMIM:222470
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Constipation, Gastroesophageal reflux ORPHA:353281
Liver Disease, Severe Congenital
Chronic gastritis, Abdominal distention, Diarrhea, Peritonitis, Dependency on parenteral nutritio... OMIM:619991
Chromosome 1P36 Deletion Syndrome, Distal
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Dysphagia OMIM:607872
Dubowitz Syndrome
Chronic diarrhea ORPHA:235
Hypermobile Ehlers-Danlos Syndrome
Nausea and vomiting, Constipation, Gastrointestinal dysmotility, Gastroesophageal reflux ORPHA:285
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Constipation, Gastroesophag... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Constipation, Gastroesophag... ORPHA:353277
Proximal Renal Tubular Acidosis
Diarrhea, Vomiting ORPHA:47159
C Syndrome
Constipation ORPHA:1308
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Feeding difficulties, Chronic constipation, Tip-toe gait, Falls, Dysphagia, Poo... OMIM:619503
Witteveen-Kolk Syndrome
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Feeding difficulties OMIM:613406
Non-Acquired Panhypopituitarism
Constipation ORPHA:90695
Ectodermal Dysplasia And Immunodeficiency 2
Chronic diarrhea, Recurrent infection of the gastrointestinal tract OMIM:612132
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Chronic diarrhea, Hematemesis ORPHA:906
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic diarrhea, Recurrent infection of the gastrointestinal tract ORPHA:35078
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Bloody diarrhea ORPHA:436252
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Secretory diarrhea, Feeding difficulties, Hepatic ... OMIM:619573
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Bowel incontinence, Inability to walk, Gastrointestinal dysmotility, En... ORPHA:2152
Lowe Oculocerebrorenal Syndrome
Constipation OMIM:309000
Leptospirosis
Nausea and vomiting, Diarrhea, Anorexia, Abdominal pain ORPHA:509
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Gastroesophageal reflux, Constipation, Vomiting OMIM:309580
Agammaglobulinemia, X-Linked
Chronic diarrhea OMIM:300755
Mowat-Wilson Syndrome
Abdominal distention, Constipation, Vomiting OMIM:235730
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Gastrointestinal... ORPHA:95455
Classical Ehlers-Danlos Syndrome
Gastroesophageal reflux, Vomiting, Nausea, Chronic constipation ORPHA:287
Proteasome-Associated Autoinflammatory Syndrome 1
Chronic constipation, Protuberant abdomen, Parotitis OMIM:256040
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Bowel incontinence, Inability to walk, Constipation, Dysphagia, Episodic vomiting ORPHA:261537
Coffin-Siris Syndrome 12
Chronic constipation, Gastroesophageal reflux, Feeding difficulties OMIM:619325
Zttk Syndrome
Feeding difficulties in infancy, Chronic diarrhea, Feeding difficulties OMIM:617140
Nijmegen Breakage Syndrome
Chronic diarrhea ORPHA:647
Holoprosencephaly 2
Constipation OMIM:157170
Combined Pituitary Hormone Deficiencies, Genetic Forms
Constipation ORPHA:95494
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Bowel incontinence, Inability to walk, Constipation, Dysphagia, Episodic vomiting ORPHA:261552
Occipital Horn Syndrome
Chronic diarrhea OMIM:304150
Menke-Hennekam Syndrome 1
Chronic constipation, Gastroesophageal reflux, Feeding difficulties OMIM:618332
Townes-Brocks Syndrome
Constipation, Bowel incontinence ORPHA:857
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain ORPHA:2929
Viss Syndrome
Chronic gastritis, Abdominal distention, Chronic diarrhea, Feeding difficulties, Chronic constipa... OMIM:619472
Sotos Syndrome
Constipation, Gastroesophageal reflux, Feeding difficulties ORPHA:821
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, G... ORPHA:500150
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea ORPHA:217085
Mucopolysaccharidosis Type 2
Chronic diarrhea ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea ORPHA:217093
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Feeding difficulties, Exocrine pancreatic insufficiency ORPHA:2255
Aspartylglucosaminuria
Diarrhea OMIM:208400
Cushing Syndrome Due To Ectopic Acth Secretion
Diarrhea, Anorexia ORPHA:99889

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Khdrbs2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Khdrbs2.

No publications found that use IMPC mice or data for Khdrbs2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Khdrbs2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Khdrbs2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Khdrbs2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Khdrbs2tm115460(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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