Gene Summary

Name:
RUNX1 translocation partner 1
Synonyms:
MTG8,  Cbfa2t1h,  ETO

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
preweaning lethality, complete penetrance Runx1t1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating triglyceride level Runx1t1tm1b(EUCOMM)Hmgu HET Early adult 1.50×10-05

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Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 50% (1 of 2)
Brainstem N/A heterozygote 50% (1 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 50% (1 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 Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

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.

Adult LacZ

LacZ Images Wholemount

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

4 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

Human diseases caused by Runx1t1 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 Runx1t1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Dec... ORPHA:209964
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Villous atrophy, Death in infancy, Abnormal intestine morpholo... OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa... OMIM:613217
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Diarrhea 9
Diarrhea, Villous atrophy, Failure to thrive OMIM:618168
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Vascular Hyalinosis
Chorioretinal scar, Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption, Subarachno... OMIM:277175
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Villous atrophy OMIM:615863
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intrauteri... OMIM:243150
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Smal... ORPHA:329971
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Abnormal small in... ORPHA:95427
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Abnormality of the g... ORPHA:2070
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention ORPHA:103910
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, Growth delay OMIM:613148
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Congenital Factor V Deficiency
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... ORPHA:326
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormality of connective tissue, Abnormal rectum mo... ORPHA:70475
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Perioral erythema, Bloody diarrhea, Villous atrophy, Duodenitis, Perianal eryt... OMIM:614328
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper... ORPHA:251992
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... OMIM:246700
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro... ORPHA:100082
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Hereditary Mixed Polyposis Syndrome
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarci... ORPHA:157794
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Gastrointestinal hemorrhage, Intestinal bleeding... ORPHA:79076
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Intrauterine growth retardation, Villous atrophy, C... OMIM:614602
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Skin ulcer, Neoplasm of the liver, Neoplasm of the rectum, An... ORPHA:424019
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Increased body weight, Constipation, Omphalocele, Increased body mass index, Macrogloss... OMIM:614450
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Dry skin, Severe postnatal growth retardation, Omphalocele, Macroglossia, Feedi... OMIM:275100
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to thrive, Villous atrophy, Feeding diff... OMIM:616050
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy, Omphalocele OMIM:258320
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Failure to thrive, Prolonged prothrombin time, Fat malabsorption OMIM:214950
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:600955
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Abnormal blee... OMIM:602579
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat... ORPHA:464321
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Abdominal distention, Gastroschisis ORPHA:1198
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Testicular atrophy OMIM:601163
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive, Anorexia ORPHA:79283
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hernia ORPHA:101009
Bile Acid Malabsorption, Primary, 1
Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat ma... OMIM:613291
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Diarrhea, Vomiting, Failure to thrive, Villous atroph... OMIM:601110
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Omphalocele OMIM:190440
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multip... ORPHA:2929
Cyclic Vomiting Syndrome
Vomiting, Cardiomyopathy, Pallor, Nausea, Attention deficit hyperactivity disorder, Gastrointesti... OMIM:500007
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Prolonged prothrombin time, Acholic s... OMIM:613812
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology, Hyp... ORPHA:2290
Immunodeficiency 85 And Autoimmunity
Vomiting, Failure to thrive in infancy, Villous atrophy, Tube feeding, Chronic diarrhea, Growth d... OMIM:619510
Schisis Association
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omphalocele, Anal atresia, Small for ... ORPHA:63862
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr... ORPHA:1201
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Diarrhea, Erythema, Esophagitis, Intesti... ORPHA:913
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Neopla... ORPHA:2869
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Small for gestati... ORPHA:95706
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Hypertrophic cardiomyopathy, Pallor, Dysphagia OMIM:613561
Distal Duplication 15Q
Camptodactyly of finger, Intrauterine growth retardation, Anal atresia, Omphalocele, High palate ORPHA:1707
Fanconi Anemia, Complementation Group O
Death in infancy, Neonatal death, Rectal atresia, Short stature, Anal atresia, Miscarriage OMIM:613390
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Feeding difficulties in i... ORPHA:1199
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Refractory Celiac Disease
Protein-losing enteropathy, Jejunitis, Malnutrition, Villous atrophy, Malabsorption, Weight loss,... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Hematochezia, Inflammation of the large intestine, Vasculitis, Failure to thrive, Col... OMIM:617718
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Failure to thrive, Car... OMIM:615895
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormal gastrointestinal tract morphology, Congenita... ORPHA:1834
Monosomy 13Q34
Hematochezia, Epistaxis, Obesity, Metrorrhagia, Prolonged prothrombin time, Growth delay, Pulmoni... ORPHA:96168
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Self-injurious behavior, Head-banging, Failure to thrive, Freq... OMIM:619575
Primary Lateral Sclerosis, Juvenile
Dysphagia, Pallor, Pseudobulbar paralysis OMIM:606353
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... ORPHA:93930
Zygomycosis
Cellulitis, Hematochezia, Gastrointestinal hemorrhage, Colon perforation, Diarrhea, Vomiting, Epi... ORPHA:73263
Caudal Duplication
Intestinal duplication, Omphalocele ORPHA:1756
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Wiskott-Aldrich Syndrome
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Vasculitis, Epistaxis, Brui... ORPHA:906
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Umbilical hernia, Intestinal malrotation, Nausea and vomiting, Death in infancy, Abno... ORPHA:2241
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia OMIM:614326
Plummer-Vinson Syndrome
Pallor, Esophageal web, Dysphagia, Abdominal pain, Glossitis, Tongue atrophy, Geophagia, Poor app... ORPHA:54028
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Death in infancy, Feeding difficulties OMIM:618183
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... OMIM:606528
Mhc Class Ii Deficiency 1
Failure to thrive, Protracted diarrhea, Malabsorption, Villous atrophy, Colitis OMIM:209920
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia, Failure t... OMIM:256500
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Cleft palate, Omphalocele OMIM:603194
Neuroendocrine Tumor Of The Colon
Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Protracted diarrhea, Hypoac... ORPHA:100080
20Q13.33 Microdeletion Syndrome
Failure to thrive in infancy, Hematochezia, Growth delay, Small for gestational age ORPHA:261311
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Weight... OMIM:619377
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Lipodystrophy, Failure to thrive OMIM:608776
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Intrauterine growth retardation, Omphalocele ORPHA:3035
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Postnatal growth retardation, Large for gestational age, Diastasis recti, Feedi... ORPHA:254534
Omphalocele
Omphalocele ORPHA:660
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Restrictive Dermopathy 2
Intrauterine growth retardation, Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Villou... OMIM:557000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Villous atrophy, Psor... OMIM:614700
Congenital Bile Acid Synthesis Defect Type 4
Hypogonadism, Hematochezia ORPHA:79095
Alpha-Heavy Chain Disease
Abdominal pain, Abnormal small intestine morphology, Growth delay, Malabsorption ORPHA:100025
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Glanzmann Thrombasthenia
Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci... ORPHA:849
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Intrauterine growth retardation, Paralytic ileus, Short stature, Celiac disease OMIM:620565
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Camptodactyly of toe, Omphaloce... OMIM:175700
Acalvaria
Cleft palate, Omphalocele ORPHA:945
Neuroendocrine Tumor Of Stomach
Melena, Hepatic failure, Right ventricular failure, Hypotension, Lack of bowel sounds, Protracted... ORPHA:100075
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Villous atrophy, Failure to thrive, Ileus OMIM:304790
Pseudodiastrophic Dysplasia
Rhizomelia, Omphalocele ORPHA:85174
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Villous atrophy, Death in childhood, Death... OMIM:212065
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Intrauterine growth retardation, Gastrointestinal hemorrhage, Death in childhood, Feeding difficu... OMIM:620368
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Failure to thrive in infancy, Villous atrophy, Scaling skin, Chronic diarrhea OMIM:606367
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Anal atresia, Omphalocele OMIM:601389
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Turcot Syndrome With Polyposis
Hematochezia, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Nausea, He... ORPHA:99818
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Growth delay, Villous atrophy, Weight loss, Delayed puberty... OMIM:614162
Congenital Contractural Arachnodactyly
Congenital contracture, Camptodactyly of finger, Intestinal malrotation, Slender build, Tracheoes... ORPHA:115
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia, Neonatal death OMIM:612138
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Anorexia, Short statur... ORPHA:49827
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Syndromic Diarrhea
Aortic regurgitation, Intractable diarrhea, Bloody diarrhea, Dry skin, Intrauterine growth retard... ORPHA:84064
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Intrauterine growth retardation, Neonatal death, Death in adolescence, ... OMIM:619751
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Feeding difficulties, Pallo... ORPHA:276556
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Feeding difficulties, Pallor, Polyphagia, Syncope, Tachy... ORPHA:324575
Miller-Dieker Syndrome
Growth delay, Omphalocele ORPHA:531
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Triploidy
Intestinal malrotation, Intrauterine growth retardation, Omphalocele, Macroglossia, Cleft palate ORPHA:3376
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Intrauterine growth retarda... ORPHA:436252
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Hypertrophic cardiomyopathy, Intrauterine... OMIM:615846
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Gastroesophageal reflux, Omphalocele OMIM:618316
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Feeding difficulties, Pallo... ORPHA:276575
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Diastasis recti,... ORPHA:254528
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Pallor, Aganglionic megacolon, Arrhythmia, Ac... ORPHA:3386
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Auriculocondylar Syndrome 2B
Failure to thrive, Postnatal growth retardation, Chronic constipation, Omphalocele, Feeding diffi... OMIM:620458
Martinez-Frias Syndrome
Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Tracheoesophageal fistu... OMIM:601346
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Feeding difficulties, Pallo... ORPHA:276580
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Failure to thrive, Nausea and vomiting, Pallor, Anorexia, Glos... ORPHA:90045
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Skin ulcer, Neoplasm of the liver, Neoplasm of the rectum, An... ORPHA:424016
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac... ORPHA:536516
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Intrauterine growt... OMIM:615710
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Acute Myelomonocytic Leukemia
Weight loss, Abnormal bleeding, Pallor ORPHA:517
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Intrauterine growth retardation, Redundant neck skin, Feeding difficulties in infancy... OMIM:301056
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Erythema, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, Hi... OMIM:147060
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Intr... OMIM:608104
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Peripheral Cone Dystrophy
Pallor OMIM:609021
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Neonatal death OMIM:615524
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia, Pallor, Agitation ORPHA:276608
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Multiple gastric polyps, Abdomi... OMIM:175200
Benign Paroxysmal Torticollis Of Infancy
Vomiting, Pallor ORPHA:71518
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, D... ORPHA:79319
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti... OMIM:175050
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Failure to thrive, Intrauterine growth retardation, Inguinal herni... OMIM:247200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility OMIM:261550
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Congenital diaphragmatic hernia, Aganglionic meg... ORPHA:2059
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... OMIM:187300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ... OMIM:239300
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Oral cavity bleeding, Pallor, Melena, Short stature, Post-partum hemorrhage ORPHA:98870
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Gastroesophageal reflux, Umbilical hernia, Redundant skin, Inguina... OMIM:613177
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Kagami-Ogata Syndrome
Postnatal growth retardation, Large for gestational age, Diastasis recti, Inguinal hernia, Hepato... ORPHA:254519
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Severe short-limb dwarfism, Omphalocele ORPHA:1263
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int... ORPHA:44890
Chromosome 10Q26 Deletion Syndrome
Postnatal growth retardation, Aggressive behavior, Hyperactivity, Omphalocele, Short stature, Hig... OMIM:609625
X-Linked Ehlers-Danlos Syndrome
Gastroesophageal reflux, Bruising susceptibility, Umbilical hernia, Inguinal hernia, Hernia, Shor... ORPHA:75497
Desmoid Tumor
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Abnorma... ORPHA:873
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia OMIM:222448
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Omphalocele ORPHA:93267
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Gastrointest... OMIM:600376
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Myocardial infarction, Peritonitis, Abdomin... ORPHA:90038
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Focal Dermal Hypoplasia
Erythema, Gastroesophageal reflux, Camptodactyly of finger, Umbilical hernia, Abnormal dental ena... ORPHA:2092
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Nausea, Melena, Abdominal pai... ORPHA:319218
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Reduced progressive sperm motility, Duodenal atresia OMIM:619608
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Duodenal Atresia
Duodenal atresia OMIM:223400
Mednik Syndrome
Erythema, Microcolon, Diarrhea, Volvulus, Death in childhood, Death in infancy, Jejunal atresia, ... OMIM:609313
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Diastasis recti, Omphalocele, Scaling skin, Short stature, Anal atresia, Small for gest... OMIM:618419
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Small for gestational age, Growth delay, Third degree atriov... OMIM:619573
Vacterl/Vater Association
Anorectal anomaly, Intrauterine growth retardation, Congenital diaphragmatic hernia, Tracheoesoph... ORPHA:887
Sepsis In Premature Infants
Hypotension, Diarrhea, Vomiting, Abnormal bleeding, Decreased liver function, Functional abnormal... ORPHA:90051
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Growth delay, Duodenal atresia OMIM:617784
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess OMIM:620534
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Fanconi Anemia, Complementation Group B
Hypogonadism, Intrauterine growth retardation, Death in infancy, Tracheoesophageal fistula, Esoph... OMIM:300514
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Umbilical hernia, Intestinal lymphangi... OMIM:235510
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Umbilical hernia, Intestinal malrotation, Pulmonic ... OMIM:115470
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Duodenal atresia ORPHA:3004
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Bifid uvula, Hepatic failure, Intractable diarrhea, Failure to thrive, Intr... OMIM:222470
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation OMIM:618985
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate OMIM:601357
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive, Death in childhood, Short stature, Fat malabsorption, Hepatocellular... OMIM:601847
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Intestinal malrotation, Intrauterine growth retardation, Median cleft palate... OMIM:269860
Cystic Fibrosis
Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Steatorrh... OMIM:219700
Spontaneous Periodic Hypothermia
Arrhythmia, Diarrhea, Nausea and vomiting, Pallor ORPHA:29822
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... ORPHA:85450
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer ORPHA:3217
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Congestive heart failure, Villous atrophy, Renovascular hypertension, Abnormal intestin... ORPHA:391487
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Cleft palate ORPHA:261344
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor, Failure to thrive, Anorexia OMIM:611590
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607748
Trisomy 18
Narrow palate, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragmatic... ORPHA:3380
Cloacal Exstrophy
Intestinal duplication, Intestinal malrotation, Cloacal exstrophy, Omphalocele, Anal atresia, Bla... ORPHA:93929
C Syndrome
Failure to thrive, Cutis laxa, Omphalocele, Short stature, High palate OMIM:211750
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Inguinal hernia OMIM:235760
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Leishmaniasis
Abnormal bleeding, Skin ulcer, Pallor, Weight loss, Anorexia ORPHA:507
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Fryns Syndrome
Joint contracture of the hand, Meckel diverticulum, Intestinal malrotation, Large for gestational... OMIM:229850
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Hemoglobin D Disease
Abdominal pain, Pallor ORPHA:90039
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Pallor, Delayed puberty, High palate, Growth delay OMIM:600462
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Rheumatic Fever
Epistaxis, Erythema, Nausea and vomiting, Pallor, Arrhythmia, Aplasia/Hypoplasia of the abdominal... ORPHA:3099
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Obesity, Omphalocele, Camptodactyly, High palate... OMIM:201000
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Absent uvula, Ventral hernia, Omphalocele, Camptodactyly, Short stature OMIM:618529
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Fibrochondrogenesis 1
Joint contracture of the hand, Rhizomelia, Stillbirth, Omphalocele, Protuberant abdomen, Camptoda... OMIM:228520
Parenteral Nutrition-Associated Cholestasis
Hepatic failure, Villous atrophy, Portal hypertension, Abdominal pain, Small for gestational age ORPHA:567983
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Intrauterine growth retardation, Retinal telangiectasia, Portal hype... OMIM:617341
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele OMIM:200995
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Restlessness, Dysphagia, Agitation ORPHA:13
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Villous atrophy, Bowel irritabilit... OMIM:619381
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Immunodeficiency 40
Focal active colitis, Chronic diarrhea, Rectal fistula, Intermittent diarrhea, Growth delay OMIM:616433
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Erythema, Recurrent aphthous stomatitis, Intes... ORPHA:343
Alg1-Cdg
Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Abnormality of the gastroin... ORPHA:79327
Alternating Hemiplegia Of Childhood
Diarrhea, Abdominal distention, Failure to thrive, Oral-pharyngeal dysphagia, Vomiting, Cardiomyo... ORPHA:2131
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Petechiae, Pallor, Ecchymosis, Cachexia, Anorexia, Purpura ORPHA:824
Alg6-Cdg
Protein-losing enteropathy, Macroglossia, Failure to thrive, Feeding difficulties ORPHA:79320
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding, Failure to thrive ORPHA:79301
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Alg9-Cdg
Bifid uvula, Rhizomelia, Gastroesophageal reflux, Diarrhea, Vomiting, Tricuspid regurgitation, Vi... ORPHA:79328
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Joint contracture of the hand, Gastroesophageal reflux, Anal stenosis, Failure to th... OMIM:300373
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Optic Atrophy 1
Pallor OMIM:165500
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Esophagitis, Pe... ORPHA:2538
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... OMIM:615947
Opitz Gbbb Syndrome
Umbilical hernia, Ankyloglossia, Inguinal hernia, Congenital diaphragmatic hernia, Ectopic anus, ... ORPHA:2745
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Attention deficit hyperactivity disorder, Tracheoesophageal fistula,... OMIM:619227
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Imerslund-Gräsbeck Syndrome
Vomiting, Abnormal bleeding, Failure to thrive, Pallor, Weight loss, Constipation, Tachycardia, G... ORPHA:35858
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Developmental And Epileptic Encephalopathy 89
Death in childhood, Neonatal death, Omphalocele, Flexion contracture, Cleft palate OMIM:619124
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Hamartoma of tongue, Omphalocele, Stillbirth, Bifid tongue, Anal atresia, Cleft palat... OMIM:616300
Burkitt Lymphoma
Abdominal pain, Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction ORPHA:543
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Congestive heart... ORPHA:33226
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Dubowitz Syndrome
Anal stenosis, Postnatal growth retardation, Intrauterine growth retardation, Malabsorption, Dry ... ORPHA:235
Chromosome 9P Deletion Syndrome
High, narrow palate, Inguinal hernia, Omphalocele, High palate, Heart murmur, Narrow palate OMIM:158170
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Systemic Sclerosis
Intestinal bleeding, Digital ulcer, Telangiectasia, Dysphagia, Bowel incontinence, Abnormal large... ORPHA:90291
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Cystic Fibrosis
Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Meconium ileus, Exocrine p... ORPHA:586
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Duodenal Atresia
Duodenal atresia ORPHA:1203
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Omphalocele OMIM:263210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Right-to-left shunt, Intestinal malrot... OMIM:265380
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Prolactinoma
Irregular menstruation, Hypotension, Vomiting, Male hypogonadism, Abnormality of the menstrual cy... ORPHA:2965
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope ORPHA:1959
Breath-Holding Spells
Pallor OMIM:607578
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Nausea and vomiting, Pallor, Weight loss, Intracranial hemorrhage, Prolo... ORPHA:3226
Iniencephaly
Rhizomelia, Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Arthrogryposis multiplex ... ORPHA:63259
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Neonatal death OMIM:619817
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Omphalocele OMIM:248450
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Malabsor... ORPHA:440437
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Umbilical hernia, Obesity, Decreased fertil... ORPHA:870
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Craniorachischisis
Anal atresia, Congenital diaphragmatic hernia, Omphalocele ORPHA:63260