Gene Summary

Name:
NLR family, pyrin domain containing 9B
Synonyms:
Nalp9b,  Nalp-delta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Nlrp9btm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged spleen Nlrp9btm1b(KOMP)Wtsi HOM Early adult 0.00
small testis Nlrp9btm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Nlrp9b 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 Nlrp9b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Lactose Intolerance, Adult Type
Lactose intolerance, Abdominal pain, Diarrhea, Flatulence OMIM:223100
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Diarrhea, Chronic diarrhea OMIM:614102
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Meningitis, Chronic diarrhea OMIM:614379
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thrive secondary... OMIM:608971
Rabies
Anorexia, Diarrhea, Nausea and vomiting, Recurrent pharyngitis ORPHA:770
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea OMIM:610370
Immunodeficiency 19
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea, Severe viral infection OMIM:615617
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial infections, Recurrent... OMIM:613501
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain ORPHA:160148
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Brunner Syndrome
Diarrhea OMIM:300615
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea OMIM:223000
Diarrhea 9
Diarrhea OMIM:618168
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti... OMIM:620045
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hirschsprung Disease
Diarrhea, Sepsis, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Inte... ORPHA:388
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:606528
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly, Se... OMIM:613313
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, ... OMIM:235200
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Chronic constipation, Episodic abdominal pain, Abdominal pain, Intermitte... ORPHA:209964
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Meningitis, Chronic diarrhea, Chronic oral candidiasis OMIM:616740
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Dracunculiasis
Diarrhea, Nausea and vomiting, Recurrent cutaneous abscess formation ORPHA:231
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial ... OMIM:612692
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Helicobac... ORPHA:2494
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Diarrhea, Abdominal colic OMIM:615863
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Coproporphyria, Hereditary
Abdominal pain, Vomiting, Diarrhea, Constipation OMIM:121300
Wolman Disease
Hepatomegaly, Adrenal calcification, Splenomegaly OMIM:620151
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Recurrent can... ORPHA:169160
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Recurrent upper respiratory tract infections, Vomiting OMIM:620137
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Immunodeficiency 15B
Recurrent infections, Chronic diarrhea, Chronic oral candidiasis OMIM:615592
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Inflammatory Bowel Disease (Crohn Disease) 30
Vomiting, Esophagitis, Pancolitis, Gastritis, Abdominal pain, Chronic diarrhea, Bloody diarrhea OMIM:619079
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Recurrent opportunistic infections, Diarrhea, Failure to thrive secondary to recurren... OMIM:601457
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Folate Malabsorption, Hereditary
Recurrent infections, Diarrhea, Malabsorption, Feeding difficulties in infancy OMIM:229050
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Colonic eosinophilia, Severe cytomegalovirus infection, Chron... OMIM:617638
Immunodeficiency 56
Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Hepatic failure, Recurrent respiratory inf... OMIM:615207
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Recurrent aphthous stomatitis, Recurrent sinusitis, Abdominal pain, Colitis, Recurrent ... OMIM:613960
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption ORPHA:83620
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Diarrhea 13
Vomiting, Secretory diarrhea OMIM:620357
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency, Common Variable, 7
Recurrent infections, Chronic diarrhea, Recurrent respiratory infections, Recurrent urinary tract... OMIM:614699
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Immunodeficiency, Common Variable, 11
Crohn's disease, Recurrent respiratory infections, Inflammation of the large intestine, Mucoid di... OMIM:615767
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis,... OMIM:240500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Immunodeficiency 48
Pneumocystis carinii pneumonia, Recurrent respiratory infections, Chronic diarrhea, Recurrent can... OMIM:269840
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Enterokinase Deficiency
Diarrhea OMIM:226200
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea, Recurrent bronchiolitis OMIM:619164
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Rec... OMIM:618495
Erythroderma Desquamativum
Diarrhea ORPHA:314
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Severe varicella zoster infection, Recurrent respiratory infect... OMIM:615387
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention OMIM:619445
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Vomiting, Diarrhea, Nausea ORPHA:79457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Diarrhea, Recurrent pneumonia, Recurrent otitis med... ORPHA:277
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition OMIM:619971
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain OMIM:248360
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Vascular Hyalinosis
Hematochezia, Diarrhea, Malabsorption OMIM:277175
Reticular Dysgenesis
Diarrhea, Recurrent respiratory infections, Sepsis, Malabsorption ORPHA:33355
Hyaline Fibromatosis Syndrome
Recurrent infections, Diarrhea OMIM:228600
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... OMIM:615237
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Diarrhea, Recurrent aphthous stomatitis, Recurrent infections, Chronic oral ... OMIM:150550
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Recurrent bronchiolitis OMIM:616069
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis,... OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Cog7-Cdg
Recurrent infections, Diarrhea, Feeding difficulties ORPHA:79333
Chylomicron Retention Disease
Diarrhea, Steatorrhea, Vomiting, Malnutrition OMIM:246700
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m... OMIM:612526
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea ORPHA:309108
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Portal hypertension... ORPHA:465508
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Recurrent respiratory infections, Vomiting, Feeding difficulties in infancy OMIM:264350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... OMIM:614069
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Isolated Agammaglobulinemia
Diarrhea, Sepsis, Malabsorption, Meningitis, Recurrent respiratory infections, Recurrent cutaneou... ORPHA:229717
Radiation Proctitis
Hematochezia, Diarrhea, Sepsis, Tenesmus, Intestinal obstruction, Abdominal pain, Constipation, C... ORPHA:70475
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100082
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... ORPHA:572
Immunodeficiency 57 With Autoinflammation
Diarrhea, Recurrent respiratory infections, Inflammation of the large intestine, Gastritis OMIM:618108
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Inflammation of the large intestine, Recurrent sinusitis, Candida esophagiti... OMIM:619281
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Recurrent bacterial meningitis, Recurrent fungal infections, Chronic diarrhe... OMIM:300400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Feeding difficulties OMIM:612075
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Recurrent infections, Dysphagia, Poor appetite ORPHA:352447
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m... OMIM:256550
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting ORPHA:75234
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Secondary Short Bowel Syndrome
Diarrhea, Sepsis, Vomiting, Malnutrition, Malabsorption, Small intestinal dysmotility, Enterocoli... ORPHA:95427
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Vomiting, Nausea, Melena, Abdominal pain, Dysphagi... ORPHA:319218
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Eosinophilic Gastroenteritis
Hematochezia, Diarrhea, Vomiting, Malabsorption, Steatorrhea, Abdominal pain, Dysphagia ORPHA:2070
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Coombs-posi... OMIM:619375
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Infectious encephalitis, Constipation, Abdominal pain ORPHA:99745
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia OMIM:618838
Paroxysmal Cold Hemoglobinuria
Recurrent respiratory infections, Diarrhea, Nausea and vomiting ORPHA:90035
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Central Diabetes Insipidus
Diarrhea, Nausea and vomiting, Anorexia ORPHA:178029
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Diarrhea, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutane... ORPHA:276
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea OMIM:615399
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections, Nausea and vomiting, Anore... ORPHA:90045
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Small intestin... ORPHA:298
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:1267
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Diarrhea, Recurrent aphthous stomatitis, Recurrent infection of the g... ORPHA:486
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Encopresis, Constipation, Abdominal pain, Dysphagia, Patent du... ORPHA:589821
Autosomal Agammaglobulinemia
Diarrhea, Sepsis, Recurrent respiratory infections, Malabsorption, Meningitis, Recurrent infections ORPHA:33110
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting ORPHA:29822
Amyloidosis, Hereditary Systemic 2
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infecti... OMIM:613489
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Severe ... OMIM:616433
Caspase 8 Deficiency
Recurrent herpes, Chronic diarrhea, Recurrent sinopulmonary infections OMIM:607271
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Foodborne Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:228371
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Trichohepatoenteric Syndrome 2
Colitis, Diarrhea, Chronic diarrhea, Bloody diarrhea OMIM:614602
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea OMIM:618523
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Anorex... ORPHA:100080
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Reye syndrome-like episodes, Nausea, Feeding difficulties, Poor appetite ORPHA:927
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding difficulties, Poor suck OMIM:617788
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Wolman Disease
Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Anemia, Hepatomegaly, Bone-m... ORPHA:75233
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Gastroesophageal reflux, Constipation, Dysphagia, Feeding difficulties ORPHA:35708
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Pancreatoblastoma
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:677
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel... OMIM:603041
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Malabsorption, Intestinal obstruction, Abdominal pain, Recurrent lower respir... OMIM:226300
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites OMIM:614702
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Diarrhea, Nausea and vomiting, Patent ductus arteriosus ORPHA:1842
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Peritonitis, Abdominal rigidity, Abdominal distentio... ORPHA:391673
Cutaneous Mastocytoma
Abdominal pain, Vomiting, Diarrhea, Nausea ORPHA:79455
Immunodeficiency 115 With Autoinflammation
Recurrent bacterial infections, Intermittent diarrhea, Recurrent viral infections, Candida esopha... OMIM:620632
Mulibrey Nanism
Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ... ORPHA:411703
Cog4-Cdg
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... ORPHA:263501
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdominal pain ORPHA:100924
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Alg1-Cdg
Recurrent infections, Sepsis, Chronic diarrhea, Decreased liver function ORPHA:79327
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otiti... OMIM:307200
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Nasogastric tube feeding ORPHA:289504
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Sepsis, Crohn's disea... OMIM:616100
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea ORPHA:54057
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial in... OMIM:617475
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain OMIM:176000
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Mpi-Cdg
Diarrhea, Gastrointestinal hemorrhage, Vomiting, Decreased liver function ORPHA:79319
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Mitochondrial Dna Depletion Syndrome 11
Nausea, Recurrent infections, Chronic diarrhea OMIM:615084
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Diarrhea, Gastritis ORPHA:2575
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Diarrhea, Decreased liver function, Abdominal distention, Patent ductus arteriosus OMIM:608104
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypothyroidism OMIM:601005
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent infections, Recurrent herpes, Re... ORPHA:331235
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Xerostomia, Vomiting, Malabsorption, Anorexia, Abdominal pain OMIM:175500
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Sepsis, Feeding difficulties ORPHA:79239
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Autoinflammatory-Pancytopenia Syndrome
Severe Epstein Barr virus infection, Chronic diarrhea, Intestinal inflammation OMIM:619858
Harderoporphyria
Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Hemolytic anemia OMIM:618892
Neuroendocrine Tumor Of Stomach
Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Episodic... ORPHA:100075
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Recurrent sinopulmonary infections, Colitis, Chronic diarrhea, Ulcerative colitis OMIM:618394
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Feeding difficulties in infancy, Enterocolitis, Episodic vomiting, Meningitis OMIM:616050
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit... ORPHA:67
Aa Amyloidosis
Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea ORPHA:85445
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... OMIM:155310
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Immunodeficiency 25
Recurrent herpes, Protracted diarrhea, Recurrent pneumonia, Recurrent candida infections OMIM:610163
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Pyoderma, Recurrent bronchopulmonary infections,... OMIM:242700
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Chronic diarrhea, Nausea and vomiting, Anorexia ORPHA:65682
American Trypanosomiasis
Diarrhea, Infectious encephalitis, Achalasia, Abdominal pain, Abnormal large intestine physiology ORPHA:3386
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Nk-Cell Enteropathy
Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation, Abdominal pain ORPHA:263665
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties ORPHA:79101
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Lassa Fever
Diarrhea, Sepsis, Nausea and vomiting, Abdominal pain, Dysphagia ORPHA:99824
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Recurrent upper respiratory tract infect... ORPHA:436159
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... OMIM:301078
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Recurrent sinusitis OMIM:617765
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Imerslund-Grasbeck Syndrome 2
Diarrhea, Recurrent urinary tract infections OMIM:618882
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Wolfram Syndrome 1
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Tes... OMIM:222300
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatic failure, Diarrhea OMIM:235555
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Immunodeficiency 85 And Autoimmunity
Vomiting, Tube feeding, Recurrent respiratory infections, Chronic diarrhea, Persistent EBV viremia OMIM:619510
Chylomicron Retention Disease
Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Feeding difficulties OMIM:250940
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption OMIM:600955
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Methanol Poisoning
Abdominal pain, Vomiting, Diarrhea ORPHA:31825
Immunodeficiency 22
Recurrent upper respiratory tract infections, Diarrhea, Protracted diarrhea, Recurrent lower resp... OMIM:615758
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hypo... ORPHA:79330
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Chronic diarrhea, Recurrent gram-negative bacterial infections... OMIM:116920
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:603909
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent infections, Chronic diarrhea, Recurrent pneumonia OMIM:619824
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Severe viral infection, Acute hepatic failure, BCGosis, Extrapulmonary tuber... OMIM:619644
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Micropenis, Hyposp... OMIM:616897
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Cronkhite-Canada Syndrome
Abdominal pain, Diarrhea, Malabsorption, Anorexia ORPHA:2930
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly OMIM:617713
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Sepsis, Diarrhea, Enteroviral encephalitis, Meningitis, Recurrent... OMIM:308230
Galactosemia I
Vomiting, Diarrhea, Decreased liver function OMIM:230400
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent enteroviral infections, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abdominal pain ORPHA:79456
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Sepsis In Premature Infants
Diarrhea, Invasive fungal infection, Vomiting, Decreased liver function, Functional abnormality o... ORPHA:90051
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:618131
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Kaposi Sarcoma
Recurrent herpes, Diarrhea ORPHA:33276
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Recurrent infections due to aspiration, Feeding diff... OMIM:223900
Familial Glucocorticoid Deficiency
Vomiting, Diarrhea, Recurrent urinary tract infections, Episodic abdominal pain, Constipation, An... ORPHA:361
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea OMIM:142680
Satoyoshi Syndrome
Di