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
decreased hematocrit Ercc5tm2b(EUCOMM)Hmgu HET Early adult 2.18×10-24
preweaning lethality, complete penetrance Ercc5tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
thrombocytosis Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
increased fasting circulating glucose level Ercc5tm2b(EUCOMM)Hmgu HET Early adult 8.02×10-05
increased mean corpuscular hemoglobin Ercc5tm2b(EUCOMM)Hmgu HET Early adult 0.00
decreased erythrocyte cell number Ercc5tm2b(EUCOMM)Hmgu HET Early adult 4.43×10-38
increased mean corpuscular hemoglobin concentration Ercc5tm2b(EUCOMM)Hmgu HET Early adult 7.57×10-36

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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 4.03% (15 of 372)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Forepaw

10 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
Cleft palate, Intrauterine growth retardation 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
Skin rash, Short stature 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
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Thrombocythemia 3
Thrombocytosis OMIM:614521
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
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
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Growth delay, Lymphadenopathy, Anemia, Malabsor... ORPHA:100025
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia OMIM:604416
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Intestinal malrotation, ... ORPHA:3032
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Abnormal intestine morphology, Villous atrophy, Growth delay OMIM:251850
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Short stature, Pruritus, Splenomegaly, Cirrhosis, Intrahe... OMIM:601847
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Immunodeficiency 31C
Eczema, Abnormal intestine morphology, Villous atrophy, Growth delay, Short stature, Chronic muco... OMIM:614162
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia, Growth delay OMIM:243320
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Diarrhea, Autoimmune ... OMIM:618495
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Histiocytosis OMIM:209950
Bile Acid Malabsorption, Primary, 1
Growth delay, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Congenital Short Bowel Syndrome
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... OMIM:615237
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Malabsorption, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... ORPHA:103907
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic f... OMIM:602579
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Pruritus, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neon... ORPHA:79301
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus OMIM:618858
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Pruritus, Anemia, Gastric varix, Splenome... ORPHA:64743
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... ORPHA:70482
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... ORPHA:79168
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Pruritus, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic chol... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Pruritus, ... OMIM:602347
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Growth dela... ORPHA:95427
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Hepatic fibrosis, Growth delay, Cirrhosis, Cholestasis, Diarrhea OMIM:609313
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Villous atrophy, Vomiting OMIM:615863
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Atresia Of Small Intestine
Intrauterine growth retardation, Vomiting, Short stature, Jejunal atresia, Intestinal malrotation... ORPHA:1201
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Jejunal Atresia
Jejunal atresia OMIM:243600
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Heme Oxygenase 1 Deficiency
Coombs-positive hemolytic anemia, Thrombocytosis, Hemolytic anemia, Asplenia OMIM:614034
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... OMIM:607765
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... OMIM:214900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema, Postnatal growth retardation, Intrauterine growth retardation OMIM:233810
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Immunodeficiency 17
Eczema, Abnormal intestine morphology, Decreased proportion of CD8-positive T cells, Recurrent ga... OMIM:615607
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Microvillus inclusions, Microvillar PAS-positive secretory granules, S... OMIM:619445
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... ORPHA:79319
Feingold Syndrome 2
Intestinal atresia, Postnatal growth retardation, Short stature OMIM:614326
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insuffic... ORPHA:309108
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... ORPHA:157798
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Intrauterine growth re... OMIM:615710
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Vomiting, Anemia, Malabsorption, Steatorrhea, Abnorma... ORPHA:2070
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Anemia, Splenomegaly, Reduced natural killer cell count, Skin ras... OMIM:616050
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Intrauterine growth retardation, Hepatitis, Cirrhosis, Diarrhea, C... OMIM:614602
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Short stature, Celiac disease, Postnatal growth retardation, Delayed puberty OMIM:618985
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Intrauterine growth retardation, Vomiting, Anemia, Decreased liver function, Choles... OMIM:608104
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Intrauterine growth retardation, Annular pancreas, Jejun... OMIM:601346
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hypercholanemia, Familial 1
Pruritus, Steatorrhea, Fat malabsorption OMIM:607748
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morpholo... ORPHA:92050
Chylomicron Retention Disease
Growth delay, Vomiting, Acanthocytosis, Increased hepatocellular lipid droplets, Hepatic steatosi... ORPHA:71
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Increased mean platelet volume, Vomiting, Intestinal pseudo-obstruction, Congen... OMIM:300048
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Refractory Celiac Disease
Inflammatory abnormality of the skin, Jejunitis, Macrocytic anemia, Villous atrophy, Normocytic a... ORPHA:398063
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Increased hepatic glyc... OMIM:232700
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... ORPHA:234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis OMIM:226300
Enteric Anendocrinosis
Portal hypertension, Vomiting, Malabsorption, Cholestatic liver disease, Diarrhea ORPHA:83620
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Ileal ulcer, Skin rash, Lymphopenia, Thrombocytopenia, Colitis OMIM:616744
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Immunodeficiency 55
Eczema, Neutropenia, Intrauterine growth retardation, Short stature, Lymphadenopathy, Recurrent s... OMIM:617827
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Lymphopenia, Leukopenia OMIM:615934
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Short stature, Hepatic cysts, Colonic eosinophilia, Hepatosplenomegaly, Eosino... OMIM:618999
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Beta-Ketothiolase Deficiency
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis ORPHA:134
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet adhesion, Thrombo... ORPHA:324636
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... ORPHA:131
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Villous atrophy, Neutropenia, Biliary tract abnormality, Protracted diarrhea, Malabs... OMIM:209920
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Villous atrophy, Vomiting, Growth delay, Chronic diarrhea, Reduced natural ... OMIM:619510
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Splenomegaly ORPHA:664
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Portal fibrosis, He... OMIM:619377
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Erythroderma, Villous atrophy, Pustule, Duodenitis OMIM:614328
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Recurrent hypoglycemia, Nonketotic hypoglycemia ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Poems Syndrome
Polycythemia, Thrombocytosis, Diabetes mellitus ORPHA:2905
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Neutropenia, Villous atrophy, Lymphadenopathy, Coombs-positive hemolytic an... OMIM:304790
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Type I diabetes mellitus, Macrocytic anemia OMIM:212750
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Alg6-Cdg
Macroglossia, Protein-losing enteropathy, Abnormality of the liver, Jaundice ORPHA:79320
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Abnormal intestine morphology, Celiac disease, Neutropenia in presence of anti-neutropil ... OMIM:615952
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Medullary Thyroid Carcinoma
Lymphadenopathy, Dysphagia, Diarrhea, Abnormal liver parenchyma morphology ORPHA:1332
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Intrauterine growth retardation, Hypoplasia of the ... OMIM:243150
Microvillus Inclusion Disease
Pruritus, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... ORPHA:1198
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... ORPHA:567983
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Pruritus, Bile ... ORPHA:30391
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... OMIM:615688
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glossitis, Diarrhea, Ham... OMIM:175500
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Leukopenia, Bone marrow hypocellularity, Postnatal growth retard... OMIM:615190
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Alg1-Cdg
Chronic diarrhea, Decreased liver function, Protein-losing enteropathy, Abnormality of the gastro... ORPHA:79327
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Eczema, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly,... ORPHA:379
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Pruritus, Cirrhosis, Ski... ORPHA:779
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Villous atrophy, Lymphadenopath... OMIM:606367
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency ORPHA:586
Hepatocellular Carcinoma
Thrombocytosis, Hypoglycemia, Type II diabetes mellitus, Polycythemia, Anemia, Thrombocytopenia ORPHA:88673
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Short stature, Abnormal stomach morphology ORPHA:281090
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption OMIM:600955
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Primary Intestinal Lymphangiectasia
Growth delay, Abnormal lymphatic vessel morphology, Increased stool alpha1-antitrypsin concentrat... ORPHA:90362
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... OMIM:112200
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Bloody diarrhea, Intrauterine growth retardation, Peritoneal abscess, Hy... ORPHA:436252
Porphyria Cutanea Tarda
Increased fecal porphyrin, Hepatocellular carcinoma, Elevated hepatic iron concentration, Chronic... ORPHA:101330
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185000
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:182900
Mednik Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology ORPHA:171851
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Short stature, Lymphadenopathy, Hepatitis, Bone marro... ORPHA:381
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... OMIM:614700
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Pancreat... OMIM:155310
Bronchogenic Cyst
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Oculoskeletodental Syndrome
Hepatomegaly, Short stature, Macroglossia, Splenomegaly, Protein-losing enteropathy OMIM:618440
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Netherton Syndrome
Abnormal intestine morphology, Erythroderma, Villous atrophy, Hypereosinophilia, Intestinal atresia OMIM:256500
Hardikar Syndrome
Cholangitis, Esophageal varix, Short stature, Intrahepatic bile duct cysts, Splenomegaly, Hepatos... OMIM:301068
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Hypochromic anemia OMIM:618213
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Growth delay, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, D... ORPHA:329971
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Irida Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology ORPHA:209981
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Splenomegaly, Hepatosplenomegaly, Postnata... ORPHA:1655
Dextrocardia
Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia, Webbed neck, Abnormality o... ORPHA:1666
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Cleft palate, Splenomegaly, Thyroid lympha... OMIM:235255
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Abnormal intestine morphology, V... ORPHA:391487
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... ORPHA:210122
Abetalipoproteinemia
Acanthocytosis, Fat malabsorption OMIM:200100
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Pruritus, Gas... ORPHA:90291
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Short stature, Refractory an... ORPHA:79076
Cog8-Cdg
Elevated hepatic transaminase, Protein-losing enteropathy ORPHA:95428
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Matthew-Wood Syndrome
Intrauterine growth retardation, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the p... ORPHA:2470
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Bifid uvula, Diarrhea OMIM:601110
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Scleroderma
Abnormality of the small intestine, Abnormal large intestine morphology, Pruritus, Abnormal stoma... ORPHA:801
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Brucellosis
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia ORPHA:1304
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Duodenal atresia, Intestinal malrotation OMIM:619608
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... OMIM:174900
Mirage Syndrome
Intrauterine growth retardation, Leukopenia, Short stature, Anemia, Chronic diarrhea, Achalasia, ... OMIM:617053
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Vomiting, Nausea, Short stature, Hepato... ORPHA:79240
Juvenile Polyposis Syndrome
Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Diarrhea, Small in... ORPHA:2929
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Abse... OMIM:156810
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia, Short stature ORPHA:3004
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hypoplasia o... OMIM:200995
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula OMIM:223330
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Growth delay, Rectovagin... ORPHA:2538
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia... ORPHA:2968
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Anemia, Diabetes mellitus OMIM:609069
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Shwachman-Diamond Syndrome
Eczema, Neutropenia, Pancreatic hypoplasia, Short stature, Leukemia, Steatorrhea, Pancytopenia, B... ORPHA:811
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Severe short stature ORPHA:2617
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Diaphanospondylodysostosis
Cleft palate, Intrauterine growth retardation, Webbed neck, Abnormal liver lobulation, Disproport... OMIM:608022
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Immunodeficiency 87 And Autoimmunity
Cleft palate, Increased fecal calprotectin level, Hemolytic anemia, Jaundice, Autoimmune hemolyti... OMIM:619573
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Erysipelas, Intestinal lymphangiectasia, Narr... OMIM:235510
Mosaic Trisomy 9
Cleft palate, High palate, Intrauterine growth retardation, Asplenia, Webbed neck, Intestinal mal... ORPHA:99776
Gracile Bone Dysplasia
Ankyloglossia, Short stature, Hypoplastic spleen, Asplenia OMIM:602361
Pearson Syndrome
Neutropenia, Splenomegaly, Postnatal growth retardation, Steatorrhea, Pancytopenia, Bone marrow h... ORPHA:699
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum ORPHA:777
Duodenal Atresia
Duodenal atresia OMIM:223400
Scedosporiosis
Abnormal jejunum morphology, Unusual skin infection ORPHA:449280
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Thrombocytopenia ORPHA:391673
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Diarrhea, B... OMIM:619381
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Short stature, Macroglossia, Anal atresia, Myeloprolife... OMIM:190685
Zygomycosis
Colon perforation, Neutropenia, Hepatitis, Melena, Gastritis, Gastrointestinal hemorrhage, Diarrh... ORPHA:73263
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Acanthocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Dia... ORPHA:96180
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Leukopenia, Insulin resistance, Insulin-resistan... ORPHA:2298
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Argininemia
Hepatomegaly, Portal fibrosis, Vomiting, Micronodular cirrhosis, Postnatal growth retardation, Ch... OMIM:207800
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Postnatal gr... ORPHA:288
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Morphological abnormality of the gastrointestinal tract ORPHA:2847
Whim Syndrome
Abnormality of the small intestine, Neutropenia, Lymphadenitis, Parotitis, Lymphopenia, Abnormali... ORPHA:51636
Abetalipoproteinemia
Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Acanthocytosis, Anemia, ... ORPHA:14
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cleft palate, High palate, Intestinal malrotation, Recurrent skin infections, Hiatus hernia, Abno... OMIM:601776
Gaisböck Syndrome
Increased red blood cell count, Diabetes mellitus, Increased mean corpuscular hemoglobin concentr... ORPHA:90041
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Rhizomelia, Meckel diverticulum, Short stature OMIM:602613
Doors Syndrome
Thrombocytosis ORPHA:79500
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Musculocontractural Ehlers-Danlos Syndrome
Cleft palate, High palate, Abnormality of mesentery morphology, Malrotation of small bowel, Recur... ORPHA:2953
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Protein-losing enteropathy, Hematochezia OMIM:618183
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Meckel diverticulum, Pancreatic cysts, Short stature, Seborrheic dermatitis, Anemia... OMIM:274000
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Growth delay, Duodenal stenosis, Short stature, Anal atresia, Anal ste... OMIM:617063
Storm Syndrome
Fat malabsorption OMIM:185069
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Increased T cell count, Anemia, Abno... ORPHA:797
Tarp Syndrome