Gene Summary

Name:
excision repair cross-complementing rodent repair deficiency, complementation group 5
Synonyms:
Xpg

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 Ercc5tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
thrombocytosis Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
increased mean corpuscular hemoglobin Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
increased fasting circulating glucose level Ercc5tm2b(EUCOMM)Hmgu HET Early adult 8.11×10-05
decreased erythrocyte cell number Ercc5tm2b(EUCOMM)Hmgu HET Early adult 1.41×10-38
increased mean corpuscular hemoglobin concentration Ercc5tm2b(EUCOMM)Hmgu HET Early adult 2.74×10-36
decreased hematocrit Ercc5tm2b(EUCOMM)Hmgu HET Early adult 1.87×10-24

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
Kidney  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
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)
Cecum N/A heterozygote 0.0% (0 of 1)
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 Not available
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)
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)
Mesenteric lymph node 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)
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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote Ambiguous
Intestine N/A heterozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 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%
cecum 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%
mesenteric lymph node
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%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain Ambiguous
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver Ambiguous
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
stomach Ambiguous
tail Ambiguous
tail somite group Ambiguous
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Forepaw

10 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left fundus

16 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Ercc5 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.

The table below shows human diseases associated to Ercc5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Cleft palate OMIM:616570
Xeroderma Pigmentosum
Short stature, Thin skin ORPHA:910
Cofs Syndrome
Intrauterine growth retardation, Short stature ORPHA:1466
Xeroderma Pigmentosum, Complementation Group G
Growth delay OMIM:278780
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Skin rash ORPHA:220295

The table below shows human diseases predicted to be associated to Ercc5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocythemia 3
Thrombocytosis OMIM:614521
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Growth delay, Splenomegaly, Abnormal small intestine morph... ORPHA:100025
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, ... ORPHA:3032
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog... OMIM:619079
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytosis, Histiocytosis OMIM:209950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Hepatocellular carcinoma, Intermitte... OMIM:601847
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Abnormal intestine morphology, Protracted diarrhea, Villous atrophy OMIM:251850
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... ORPHA:3318
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase c... ORPHA:64743
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Chronic diarrhea, Growth delay, Fat malabsorption OMIM:613291
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind... OMIM:619130
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular... OMIM:613490
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:606176
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level, Chr... ORPHA:103907
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Jejunal Atresia
Jejunal atresia OMIM:243600
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Small Bowel Atresia
Intestinal hypoplasia, Intestinal malrotation, Vomiting, Short stature, Intrauterine growth retar... ORPHA:1201
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy OMIM:615863
Gastroschisis
Intestinal perforation, Intestinal malrotation, Volvulus, Abnormal mesentery morphology, Intraute... ORPHA:2368
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod... OMIM:211600
Congenital Short Bowel Syndrome
Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm... OMIM:615237
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility, Cholestasis, Vomiting... ORPHA:95427
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, Asplenia OMIM:614034
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Crypt hyperplasia, Villous atrophy OMIM:613217
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy, Cirrhosis, Hepatomegaly, Lymphangiectas... OMIM:602579
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hepatomegaly, ... ORPHA:79319
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Diarrhea, Pancreatic hypoplasia, Cholesta... OMIM:615710
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:237800
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c OMIM:616511
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he... OMIM:607765
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne... ORPHA:157798
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Anemia, Iron deficiency anemia OMIM:226300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Delayed puberty, Eczematoid dermatitis, Short stature, Celiac disease OMIM:618985
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Chronic diarrhea, Megaloblastic anemia, Exocrine pancreatic insuffic... ORPHA:309108
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Anemia, Diarr... ORPHA:2070
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillus inclusions... OMIM:619445
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Immunodeficiency 31C
Delayed puberty, Chronic oral candidiasis, Autoimmune hemolytic anemia, Protein-losing enteropath... OMIM:614162
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Short stature, Enterocolitis, Secretory diarr... OMIM:616050
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Growt... OMIM:246700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... ORPHA:234
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform... OMIM:243150
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Short stature, Eosinophilia, Hepatosplenomega... OMIM:618999
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Anemia, Lymphopenia OMIM:615934
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Beta-Ketothiolase Deficiency
Hypoglycemia, Thrombocytosis, Hyperglycemia, Leukocytosis ORPHA:134
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Chronic hepatitis,... OMIM:614602
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Pruritus OMIM:607748
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... ORPHA:398063
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Hepatomegaly ORPHA:1759
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Leukocytosis, Nonketotic hypoglycemia, Leukopenia, Recurrent hypoglycemia, Thrombocytosis ORPHA:20
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Protein-losing enteropathy, Hepatomegaly, Anemia, Diarrhea, Cholestasis... OMIM:608104
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intermittent diarrhea, Intestinal lymphangiectasia, Anemia, Superfi... OMIM:620632
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarrhea, Acanthocytosis, V... ORPHA:71
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Duodenitis, Pustule, Erythroderma, Villous atrophy OMIM:614328
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly, Hepatic failure ORPHA:664
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Increased T cell count, Abnormal gastric mucos... ORPHA:263665
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co... ORPHA:79303
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Polycythemia Vera
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:729
Alg6-Cdg
Abnormality of the liver, Jaundice, Protein-losing enteropathy, Macroglossia ORPHA:79320
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Cleft palate, Leukopenia, Splenomegaly... OMIM:620210
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia, Abnormal mesentery morphology, Abdominal situs ... ORPHA:1198
Poems Syndrome
Thrombocytosis, Polycythemia, Diabetes mellitus, Splenomegaly ORPHA:2905
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Absence of intrinsic factor, Megaloblast... OMIM:261000
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Alg1-Cdg
Decreased liver function, Chronic diarrhea, Protein-losing enteropathy, Abnormality of the gastro... ORPHA:79327
Immunodeficiency 85 And Autoimmunity
Chronic diarrhea, Eczematoid dermatitis, Vomiting, Growth delay, T lymphocytopenia, Decreased pro... OMIM:619510
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Bone marrow hypocellularity, Leukopenia, Intrauterine growth retard... OMIM:615190
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:214950
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Portal fibrosis, Anemia, Episodic vomiting, Microvesicular hep... OMIM:619377
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ... OMIM:155310
Medullary Thyroid Carcinoma
Diarrhea, Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy ORPHA:1332
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Lymphadenopathy, Chronic diarrhea, Decreased FOXP3-expressing T cell count, ... OMIM:304790
Spherocytosis, Type 2
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of memory B cells, Re... OMIM:301074
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, Ty... OMIM:615688
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Mednik Syndrome
Cirrhosis, Diarrhea, Cholestasis, Microcolon, Growth delay, Volvulus, Hepatic fibrosis, Jejunal a... OMIM:609313
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Acute leukemia, Short stature ORPHA:281090
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Skin rash, Abnormal gastric mucosa mo... ORPHA:779
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Abnorma... OMIM:112200
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis OMIM:618213
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Anemia, Glossitis, Diarrhea, Hamartomatous polyposis, Vomiting, Hemat... OMIM:175500
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Colitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Biliary tr... OMIM:209920
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Diarrhea, Pruritus, Villous atrophy ORPHA:2290
Mednik Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology ORPHA:171851
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... ORPHA:552
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... ORPHA:2357
Glycogen Storage Disease Ixc
Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:613027
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Lymphadenopathy, Chronic diarrhea, B lymph... OMIM:606367
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hepatomegaly, Short stature, Splenomegaly, Macroglossia OMIM:618440
Hardikar Syndrome
Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Irida Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology ORPHA:209981
Spherocytosis, Type 1
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Functional abnormality of the gastroint... ORPHA:90362
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Dysphagia ORPHA:89844
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Mediastinal lymphadenopathy, Tracheoesophageal fistula, Eczematoid d... ORPHA:379
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectas... ORPHA:1655
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mungan Syndrome
Gastroparesis, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis, Megaduodenum OMIM:611376
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Anemia of inadequate production, Leukocytosis, Persistence of hemog... ORPHA:231222
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Gastrointestinal atresia, Rectal abscess, Peritoneal abscess, Bloody... ORPHA:436252
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Abnormal... ORPHA:1876
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati... ORPHA:731
Dextrocardia
Webbed neck, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Abnormality of a... ORPHA:1666
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Syndromic Diarrhea
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytosis ORPHA:84064
Trigonocephaly 1
Meckel diverticulum, High, narrow palate OMIM:190440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High palate, Cleft palate,... OMIM:235255
Cog8-Cdg
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration ORPHA:95428
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr... ORPHA:210122
Mirage Syndrome
Anemia, Gastroesophageal reflux, Chronic diarrhea, Short stature, Hypoplastic spleen, Leukopenia,... OMIM:617053
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastroparesis, Gastrointestin... ORPHA:90291
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal B cell morphology, Anoperineal fi... OMIM:615607
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe... ORPHA:2538
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Anal atresia, Intestinal mal... OMIM:115470
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Bowel incontinence, Abnormal duodenum morphology, Abnorma... ORPHA:512
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Netherton Syndrome
Hypereosinophilia, Eczematoid dermatitis, Recurrent infection of the gastrointestinal tract, Eryt... OMIM:256500
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Brucellosis
Anemia, Leukocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Thrombocytosis, Hypersplenism ORPHA:1304
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... ORPHA:2929
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis, Short stature, Lymphopenia, Intrauterine growth retardatio... OMIM:616395
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hypoplasia of the small intestine, Hypoplastic colon, Hepatic fibrosis, Pancreatic ... OMIM:200995
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Autoimmune hemolytic anemia, Diarrhea, B lymphocytopenia, Chronic mucocutaneous ... ORPHA:391487
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobi... ORPHA:231226
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Abcd Syndrome
Polycythemia OMIM:600501
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean ... ORPHA:231214
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Gracile Bone Dysplasia
Short stature, Hypoplastic spleen, Ankyloglossia, Asplenia OMIM:602361
Serkal Syndrome
Malrotation of small bowel, Growth delay ORPHA:139466
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Pericard... OMIM:235510
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, High palate, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Intrauterine growth retardation, Decreased CD4:CD8 ratio, Hepatic steat... OMIM:619573
Mosaic Trisomy 9
Abnormal liver lobulation, Webbed neck, High palate, Asplenia, Intestinal malrotation, Cleft pala... ORPHA:99776
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy OMIM:600955
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Pustule, Hematochezia, Neutropenia, Splenic abscess, Na... ORPHA:73263
Diaphanospondylodysostosis
Abnormal liver lobulation, Webbed neck, Cleft palate, Disproportionate short-trunk short stature,... OMIM:608022
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia, ... OMIM:557000
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Reticuloc... ORPHA:699
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, B lymphocytopenia, Hypoplas... OMIM:619313
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Splenomegaly, Villous atrophy OMIM:608776
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... ORPHA:2968
Duodenal Atresia
Duodenal atresia OMIM:223400
Scedosporiosis
Unusual skin infection, Abnormal jejunum morphology ORPHA:449280
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Kawasaki Disease
Thrombocytosis, Leukocytosis ORPHA:2331
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Reduced natural kill... OMIM:619381
Argininemia
Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activit... OMIM:207800
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Glycosuria, Hyperglycemia,... ORPHA:2298
Immunodeficiency 55
Postnatal growth retardation, Lymphadenopathy, Diarrhea, Eczematoid dermatitis, Short stature, Ly... OMIM:617827
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Plague
Hematemesis, Carbuncle, Hepatomegaly, Glossitis, Diarrhea, Skin rash, Bloody diarrhea, Erythema n... ORPHA:707
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Whim Syndrome
Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m... ORPHA:51636
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Biliary hyperplasia, Leuk... OMIM:619991
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Cleft palate, Intrauterine growth retardation, To... OMIM:311900
Maternal Uniparental Disomy Of Chromosome 4
Postnatal growth retardation, Abnormal erythrocyte morphology, Diarrhea, Short stature, Fat malab... ORPHA:96180
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Doors Syndrome
Thrombocytosis ORPHA:79500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Musculocontractural Ehlers-Danlos Syndrome
High palate, Constipation, Cleft palate, Abnormal mesentery morphology, Malrotation of small bowe... ORPHA:2953
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Diabetes mellitus, Hyperglycemia, Anemia OMIM:609069
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Abetalipoproteinemia
Steatorrhea, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, An... ORPHA:14
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, ... OMIM:265380
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea OMIM:618183
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Abnormality of the gastrointestin... ORPHA:797
Tarp Syndrome
Extramedullary hematopoiesis, Glossoptosis, Cleft palate, Abnormal duodenum morphology, Intrauter... ORPHA:2886
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Meier-Gorlin Syndrome 7
Meconium peritonitis, Anal stenosis, High palate, Anal atresia, Short stature, Growth delay, Clef... OMIM:617063
Fryns Syndrome
Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intestinal malrotat... OMIM:229850
Junctional Epidermolysis Bullosa With Pyloric Atresia
Recurrent skin infections, Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Fanconi Anemia
Aganglionic megacolon, Anemia, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, High palate,... ORPHA:84
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Intestinal malrotation, Constipation, Cleft palate, Abnormal duodenum morphology, Re... OMIM:601776
Microphthalmia, Syndromic 9
Multilobulated spleen, Short stature, Hypoplastic spleen, Severe short stature, Intrauterine grow... OMIM:601186
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Pancreatitis, Splenic cyst, High palate, Short stature, Hepatic sinusoidal dilatation OMIM:620371
Thrombocytopenia-Absent Radius Syndrome
Anemia, Meckel diverticulum, Seborrheic dermatitis, Leukocytosis, Short stature, Cleft palate, He... OMIM:274000
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Accessory spleen, Webbed neck, Severe postnatal growth retardation, Shor... OMIM:194190
Mosaic Trisomy 16
Meckel diverticulum, Abnormality of the gastrointestinal tract, Anteriorly placed anus, Intrauter... ORPHA:1708
Trisomy 8P
Annular pancreas, Constipation, Bifid uvula, Cleft palate, Malrotation of small bowel, Aplasia/Hy... ORPHA:264450
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula, Intrauterine growth retardation ORPHA:90349
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormal thymus morphology, Abnormality of the... OMIM:219000
Autosomal Dominant Cutis Laxa
Vomiting, Postnatal growth retardation, Small bowel diverticula, Intrauterine growth retardation ORPHA:90348
Down Syndrome
Aganglionic megacolon, Myeloproliferative disorder, Anal atresia, Protruding tongue, Short statur... OMIM:190685
Viss Syndrome
Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Hyp... OMIM:619472
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Hepatomegaly, Meckel diverticulum, Exaggerated median tongue furrow, Anal atresia,... OMIM:312870
Genitopatellar Syndrome
Anal stenosis, Anal atresia, Dysphagia, Malrotation of small bowel, Anteriorly placed anus OMIM:606170
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, Hi... ORPHA:79318