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Gene: Kcne2 MGI:1891123

Gene Summary

Name:

potassium voltage-gated channel, Isk-related subfamily, gene 2

Synonyms:

2200002I16Rik, MiRP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased hemoglobin content	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.80×10^-06
decreased circulating bilirubin level	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.41×10^-06
decreased circulating iron level	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.33×10^-09
decreased mean corpuscular hemoglobin	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.18×10^-08
decreased circulating serum albumin level	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.16×10^-05
decreased circulating total protein level	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.16×10^-06
increased circulating magnesium level	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.49×10^-06
decreased hematocrit	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.46×10^-05
decreased mean corpuscular volume	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.36×10^-05
thrombocytosis	Kcne2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.42×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
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 tissue	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	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	Ambiguous
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Kcne2^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

Kcne2^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Kcne2^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Kcne2^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

View all 72 images

Kcne2^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Kcne2 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.

Human diseases associated with Kcne2 (4 diseases)
Human diseases predicted to be associated with Kcne2 (843 diseases)

The table below shows human diseases associated to Kcne2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Atrial Fibrillation, Familial, 4		OMIM:611493
Long Qt Syndrome 6		OMIM:613693
Familial Atrial Fibrillation		ORPHA:334

The table below shows human diseases predicted to be associated to Kcne2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomac...	ORPHA:2494
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat...	OMIM:604416
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pan...	OMIM:618963
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Thrombocytopenia, Anemia, Hypochromic microcytic anemia, Refract...	OMIM:619523
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the s...	ORPHA:398063
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts	OMIM:182170
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Myelodysplasia, Abnormal...	ORPHA:86841
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc...	OMIM:619398
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Diarrhea, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased i...	OMIM:209950
Plummer-Vinson Syndrome	Decreased circulating ferritin concentration, Iron deficiency anemia, Esophageal web, Dysphagia, ...	ORPHA:54028
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb...	OMIM:616576
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M...	ORPHA:2575
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym...	OMIM:617780
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Hy...	ORPHA:848
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru...	ORPHA:37042
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Melena, Increased mean corpuscular volume, Increased to...	ORPHA:98870
Atransferrinemia	Hypochromic anemia, Abnormality of the liver, Atransferrinemia	OMIM:209300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Diarrhea, Vomiting, Intestinal lymphangiectasia, Intestinal obstruction, Abnorma...	OMIM:226300
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Viscer...	ORPHA:1059
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Gast...	OMIM:618108
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho...	OMIM:616100
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Gastrointestinal carcinoma, Hematochezia, Xerostomia, Diarrhea, Vomit...	OMIM:175500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Vomiting, Diarrhea, Increased circulating ferritin concentration, Thrombocytop...	ORPHA:3240
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration...	OMIM:619868
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto...	OMIM:619281
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Hypomagne...	ORPHA:90362
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, In...	ORPHA:97283
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Majeed Syndrome	Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth...	OMIM:609628
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Hepatomegaly, Arthritis, Hypochromic microcytic anemia, Elevated...	OMIM:619423
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hepatomegaly, ...	OMIM:614034
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Juvenile Arthritis	Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentra...	OMIM:619632
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Elev...	OMIM:619750
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Microcytic anemia, Abnormal circulating porphyrin concentr...	ORPHA:79278
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Vomiting, Hypothyroidism, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum...	OMIM:619147
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni...	OMIM:243150
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro...	OMIM:613845
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Alpha-Heavy Chain Disease	Lymphoma, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphade...	ORPHA:100025
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu...	ORPHA:77297
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Diarrhea, Vomiting, Eczematoid dermatitis, Lymphoma, Recurrent aphthous...	OMIM:212750
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea	OMIM:618805
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of...	ORPHA:227990
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Ele...	OMIM:619381
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Peptic ulcer, Multiple lipomas, Pancreatitis, Hypercalcemia, Primary hyperparath...	OMIM:145981
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypot...	OMIM:619013
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia...	ORPHA:227982
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c...	ORPHA:3261
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thro...	OMIM:112200
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti...	OMIM:600462
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc...	ORPHA:507
Kenny-Caffey Syndrome, Type 1	Anemia, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia	OMIM:244460
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Splenomegaly, H...	OMIM:615234
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Gitelman Syndrome	Hypermagnesemia, Type I diabetes mellitus, Diarrhea, Graves disease, Hypomagnesemia, Gout, Hypoca...	ORPHA:358
Syndromic Diarrhea	Hepatic fibrosis, Intractable diarrhea, Lymphopenia, Abnormality of the liver, Villous atrophy, S...	ORPHA:84064
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Peptic ulcer, Multiple lipomas, Hypophosphatemia, Pancreatitis, Hypercalcemia, P...	OMIM:600740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Congenital Atransferrinemia	Anemia, Hypothyroidism, Arthritis, Abnormality of the pancreas	ORPHA:1195
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ...	ORPHA:1876
Dilated Cardiomyopathy With Ataxia	Elevated circulating glutaric acid concentration, Bilateral cryptorchidism, Normochromic microcyt...	ORPHA:66634
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Immunodeficiency 92	Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp...	OMIM:619652
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate	OMIM:137215
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Pyloric Stenosis, Infantile Hypertrophic, 1	Projectile vomiting, Pyloric stenosis	OMIM:179010
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Skin rash, Pustule, M...	OMIM:615934
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Decreased circulating carnitine concentration	OMIM:611283
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lymphoma, Acute m...	ORPHA:158057
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,...	OMIM:259720
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia	OMIM:145980
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hodgkin lymphoma, Hepatomeg...	OMIM:619573
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Autoim...	OMIM:603909
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia...	OMIM:240300
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome...	OMIM:615688
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Hepatomegaly, Atrophic gastritis, Hypothyr...	OMIM:615846
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen...	OMIM:613313
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc...	ORPHA:2070
Acatalasemia	Type I diabetes mellitus, Neoplasm of the larynx, Microcytic anemia, Type II diabetes mellitus, S...	ORPHA:926
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia	OMIM:613752
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski...	OMIM:603552
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia...	OMIM:302060
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp...	OMIM:620044
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Monosomy 22	Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Seborrheic d...	ORPHA:96123
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Zygomycosis	Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Endo...	ORPHA:73263
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis	ORPHA:160148
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Peutz-Jeghers Syndrome	Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Bile duct pol...	OMIM:175200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, HbH hemoglobin, Protruding tongue, Cryptorchidism, Constipation, Hypochr...	OMIM:301040
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, High palate, HbH hemoglobin, Cryptorchidism	ORPHA:98791
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal erythrocyte...	ORPHA:324636
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Interstitial Lung And Liver Disease	Hepatic fibrosis, Vomiting, Intraalveolar phospholipid accumulation, Cholestasis, Hyperammonemia,...	OMIM:615486
Hereditary Fructose Intolerance	Hypermagnesemia, Diarrhea, Vomiting, Hyperuricemia, Nausea, Hypophosphatemia, Constipation, Hepat...	ORPHA:469
Niemann-Pick Disease, Type A	Vomiting, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Constipation, Ly...	OMIM:257200
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoar...	OMIM:606069
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia, Hydrocele testis	OMIM:618972
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Von Willebrand Disease	Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Gastrointestinal ang...	ORPHA:903
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia	OMIM:608104
Rhabdoid Tumor	Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia, Renal neoplasm, Sarcoma, Hyperc...	ORPHA:69077
Johanson-Blizzard Syndrome	Anemia, Hypoproteinemia	ORPHA:2315
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t...	OMIM:618213
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp...	OMIM:601775
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia, Elevated circulating creatine kinase concentration, Gastroesophageal reflux, M...	OMIM:612073
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration	OMIM:245900
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:611783
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Iron deficiency anemia, Hypothyroidism, Hepatomegaly, High palate	OMIM:607906
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Pancreatitis, Lipoma, Hypocalcemic seizure...	ORPHA:405
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Iron deficiency anemia	ORPHA:89937
Nephronophthisis	Anemia	ORPHA:655
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp...	ORPHA:729
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote...	OMIM:615895
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuff...	ORPHA:2905
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti...	OMIM:612714
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Dysphagia, Eczematoid dermatitis	OMIM:612379
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine p...	ORPHA:1667
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:617907
Helix Syndrome	Hypokalemia, Hypermagnesemia, Hyperparathyroidism, Xerostomia	OMIM:617671
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastr...	OMIM:174900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia	OMIM:614082
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Srd5A3-Cdg	Microcytic anemia, Hypothyroidism, Decreased response to growth hormone stimulation test	ORPHA:324737
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Neuroleptic Malignant Syndrome	Vomiting, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Leukocytosis, Hypocalcemia, Hy...	ORPHA:94093
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Bifid uvula, Hepat...	OMIM:222470
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,...	ORPHA:699
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary...	OMIM:269200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Glutamate Formiminotransferase Deficiency	Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Klippel-Trénaunay Syndrome	Microcytic anemia, Hepatomegaly, Hemangioma, Gastrointestinal hemorrhage	ORPHA:90308
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Hypothyroidism, Neutropeni...	OMIM:251900
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hemangiomatosis, Thrombocytopenia, Anemia, Hypercalcemia, Visceral angiomatosis	ORPHA:2123
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver...	ORPHA:157798
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Colchicine Poisoning	Diarrhea, Vomiting, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Nausea...	ORPHA:31824
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hyperparathyroidism, Hypercalcemia	ORPHA:2668
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Dermatitis Herpetiformis	Microcytic anemia, Abnormality of the thyroid gland, Eczematoid dermatitis	ORPHA:1656
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Lipid accumulation in hepatocy...	ORPHA:20
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Vomiting, Increased circulating fe...	OMIM:618892
Wiskott-Aldrich Syndrome	Acute leukemia, Abnormal eosinophil morphology, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Protracted diarrhea, Bloody diarrhea, Increased circulating ACTH level...	ORPHA:100075
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Decreased serum estradiol, Gastroesophageal reflux, Insulin-resistant diabetes melli...	ORPHA:2959
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Neoplasm of the skin, Leukopenia, Erythroid hyperplasia, Abnormal circul...	ORPHA:79277
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Osteosarcoma, Persistence of hemoglobin F, Elevated red cell a...	OMIM:105650
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism, Hypomagnesemia	OMIM:619908
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Diarrhea, Vomiting, Hypocholesterolemia, Villous atrophy, Hepa...	OMIM:212065
Aceruloplasminemia	Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri...	OMIM:604290
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti...	OMIM:620501
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Iron deficiency anemia, Pineal cyst, Constipation, Decreased HDL cholesterol...	OMIM:618885
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia	ORPHA:51208
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocyto...	OMIM:618278
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Cryptorchidism, Microvesicular hepatic steatosis, Decreased testi...	OMIM:610198
Acquired Von Willebrand Syndrome	Normocytic anemia, Gastrointestinal hemorrhage, Hypochromic anemia, Gastrointestinal angiodysplas...	ORPHA:99147
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di...	OMIM:598500
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal...	OMIM:620603
Peutz-Jeghers Syndrome	Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Rectal pro...	ORPHA:2869
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic diarrhea, Chronic ora...	OMIM:616740
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Elevated circulating parathyroid hormone level, Leukocytosis, Hypocalcemia, S...	ORPHA:289157
Diamond-Blackfan Anemia 6	Bifid uvula, Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, C...	OMIM:612561
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt...	ORPHA:1467
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
Thiamine-Responsive Megaloblastic Anemia Syndrome	Gastroesophageal reflux, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ...	OMIM:249270
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired...	ORPHA:811
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re...	ORPHA:247353
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell cou...	OMIM:304790
Beta-Ketothiolase Deficiency	Diarrhea, Vomiting, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hepatomegaly	ORPHA:134
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Neoplasm, Hypocalcemia, Chronic di...	ORPHA:47
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gas...	OMIM:147060
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Anemia, Inter...	ORPHA:209964
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume, Osteosarcoma	ORPHA:2760
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulati...	OMIM:618183
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration, Acne	ORPHA:1551
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Ollier Disease	Precocious puberty, Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosi...	ORPHA:296
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormality of the ...	ORPHA:229717
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophage...	ORPHA:44890
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Diarrhea, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anem...	ORPHA:54251
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,...	OMIM:616871
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Panni...	OMIM:618398
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Diarrhea, Adrenal calcification, Increased LDL cholesterol concentrati...	OMIM:278000
Desmoplastic Small Round Cell Tumor	Ileus, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anemia...	ORPHA:83469
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Methylmalonic ac...	OMIM:236270
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Folate Malabsorption, Hereditary	Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased T3/T4 ratio, Constipation, Anemia, Macroglossia, Impaired se...	OMIM:614450
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Erythrocytosis, Familial, 2	Elevated circulating erythropoietin concentration, Increased hematocrit, Increased red blood cell...	OMIM:263400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl...	ORPHA:99867
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, High palate, Delayed puberty	ORPHA:2598
Lesch-Nyhan Syndrome	Anemia, Gout, Hyperuricemia	ORPHA:510
Ileal Neuroendocrine Tumor	Increased serum serotonin, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison sy...	ORPHA:100078
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto...	ORPHA:35858
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Gracile Syndrome	Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti...	OMIM:603358
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthritis, Elevated c...	OMIM:620321
Wolman Disease	Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foa...	ORPHA:75233
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Bifid uvula, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased testicular size, C...	ORPHA:293967
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M...	OMIM:614742
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Anemia, Leukocytosis	ORPHA:67
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration, Seborrheic dermatitis	OMIM:121270
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia	ORPHA:71493
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Dysphagia	OMIM:613561
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Hypogo...	ORPHA:168569
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormality of neutrop...	ORPHA:33355
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Anemia, Lymphadenopathy, Arthritis, El...	OMIM:607115
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Diarrhea, Pituitary adenoma, Hepatitis, Graves disea...	ORPHA:199299
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Neutrophili...	ORPHA:98849
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Methylcobalamin Deficiency Type Cble	Vomiting, Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic a...	ORPHA:2169
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f...	OMIM:251880
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:618858
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ...	OMIM:242150
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Hyperammonemia	ORPHA:28
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Ethylene Glycol Poisoning	Vomiting, Hypocalcemia, Gastritis, Nausea, Hyperkalemia	ORPHA:31826
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Elevated circulating propionylcarnitine concentration, Cryptorchidism, H...	OMIM:614857
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Schnitzler Syndrome	Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology	ORPHA:779
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neop...	ORPHA:2930
Kawasaki Disease	Hypoalbuminemia, Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Cervical lymphadenopathy...	ORPHA:2331
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus	ORPHA:49827
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia	OMIM:617575
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia, High palate	ORPHA:2720
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis	ORPHA:99931
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Gastroesophageal reflux, Persistence of hemoglobin F, Hiatus hernia, Increas...	OMIM:619769
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, B lymphoc...	OMIM:614172
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia...	OMIM:127550
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277410
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastroesophageal reflux, Abnormal circulating selenium concentration, Cutaneous melanoma, Anal fi...	ORPHA:79408
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Hypogonadism	ORPHA:281090
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly	OMIM:608776
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Glucagonoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac...	ORPHA:97280
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Verrucae, Increased...	OMIM:301082
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp...	OMIM:301000
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca...	OMIM:613280
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate	OMIM:619046
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Abnormal leukoc...	ORPHA:169105
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia	OMIM:617303
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:268150
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:610582
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop...	OMIM:619151
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Cutaneous abs...	ORPHA:101330
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Anemia, Reduced circulating cortisol-binding g...	OMIM:611489
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitr...	ORPHA:231111
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Hypothyroidism, Thrombocytopenia, Anemia, High palat...	OMIM:620184
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Congenital Toxoplasmosis	Diarrhea, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Mirage Syndrome	Gastroesophageal reflux, Hyperkalemia, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased t...	OMIM:617053
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro...	OMIM:612562
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Infantile Liver Failure Syndrome 1	Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia	OMIM:615438
Neonatal Hemochromatosis	Increased circulating iron concentration, Increased circulating ferritin concentration	ORPHA:446
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Intestinal bleeding, Adenomatous colonic polyposis, Duodenal polyposis, Hepatoblastoma, Iron defi...	ORPHA:261584
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia	ORPHA:71272
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocyto...	ORPHA:98850
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Elevated circulating dihydroxyphenylacetic acid co...	OMIM:223360
Wolfram Syndrome 1	Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,...	OMIM:222300
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Birk-Aharoni Syndrome	Cryptorchidism, Macrocytic anemia	OMIM:620071
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic anemia, Panc...	OMIM:557000
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma...	OMIM:617052
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Tularemia	Pneumonia, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morpholog...	ORPHA:3392
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:606176
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Adenohypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:95512
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Leukocytosis, Protrudi...	ORPHA:99843
Osteopetrosis, Autosomal Recessive 9	Anemia, Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia	OMIM:620366
Tufted Angioma	Neoplasm of the skin, Hemangioma of the lip, Facial hemangioma, Thrombocytopenia, Anemia	ORPHA:1063
Transcobalamin Ii Deficiency	Diarrhea, Vomiting, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulo...	OMIM:275350
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Intestinal atresia, Duodenal atresia	ORPHA:3405
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Diarrhea, Vomiting, Hypogonadotropic hypogonadism, Gastrointestinal dysm...	ORPHA:298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Squamous cell carcinoma of the skin, Lymphopenia, Portal hypertension, ...	OMIM:620365
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Abnormality of thrombocytes	ORPHA:3204
Hereditary Folate Malabsorption	Gastroesophageal reflux, Diarrhea, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytop...	ORPHA:90045
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Oslam Syndrome	Anemia, Neoplasm, Osteosarcoma	OMIM:165660
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc	OMIM:617093
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Reduced haptoglobin level, Congenital hypopla...	OMIM:105600
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor...	OMIM:619824
Esophageal Ring, Lower	Hiatus hernia, Dysphagia	OMIM:133240
Relapsing Fever	Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creatinine concentration, Leu...	ORPHA:91547
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration	OMIM:618838
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Panhypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:95513
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Anemia, Increased circulating NT-proBNP concentration	ORPHA:85443
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Skin rash,...	OMIM:277380
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Specific Granule Deficiency 2	Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media, Absent neutrophil specific gra...	OMIM:617475
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating arginine concentration, Abnormal circulating glycine concentration, Abnormal...	ORPHA:79096
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Addison Disease	Diarrhea, Adrenal calcification, Hypoparathyroidism, Celiac disease, Hyperkalemia, Thymoma, Andro...	ORPHA:85138
Hereditary Mixed Polyposis Syndrome	Hematochezia, Intussusception, Refractory anemia, Adenomatous colonic polyposis, Endometrial carc...	ORPHA:157794
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Villous atrophy, Increased in...	OMIM:619377
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Recurrent infection of th...	OMIM:301110
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Tempi Syndrome	Increased hematocrit, Hemangioma, Polycythemia	ORPHA:284227
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Iron deficiency anemia, Keratoconjunctivitis sicca, ...	ORPHA:309031
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Neoplasm, Leukocytosis, Predominantly dermal n...	ORPHA:3243
Maturity-Onset Diabetes Of The Young, Type 13	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:616329
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Eczematoid dermatitis, Hypertriglyceridemia	OMIM:177000
Proteasome-Associated Autoinflammatory Syndrome 1	Conjunctivitis, Elevated circulating thyroid-stimulating hormone concentration, Parotitis, Microc...	OMIM:256040
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci...	ORPHA:88618
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatosplenomegaly, Anemia, Hemolytic anemia	OMIM:619487
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Splenomegaly, Hepatomegaly, Hypophosphatemia, Con...	OMIM:239200
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocyt...	ORPHA:457077
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocyto...	OMIM:618886
Hypophosphatasia	Anemia, Hypercalcemia	ORPHA:436
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Dermotrichic Syndrome	Anemia, Aganglionic megacolon	ORPHA:99688
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute...	OMIM:260400
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ...	ORPHA:79230
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent otitis media, Increased mean corpuscular v...	OMIM:619774
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru...	ORPHA:294
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Diarrhea, Vomiting, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Ja...	OMIM:250940
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe...	OMIM:250790
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Cryptorchidism, Hypoparathyroidism, High palate	OMIM:611174
Omenn Syndrome	Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eo...	ORPHA:39041
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ...	OMIM:231100
Castleman Disease	Follicular hyperplasia, Intestinal obstruction, Anemia, Abnormality of the gastrointestinal tract...	ORPHA:160
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morphology, Arthritis, ...	ORPHA:53
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis...	OMIM:610377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Hyperuricemia	OMIM:613092
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia, Gastrointestinal inflammation, Esophageal stricture	ORPHA:79409
Cartilage-Hair Hypoplasia	Anal stenosis, Lymphoma, Lymphopenia, Macrocytic anemia, Aganglionic megacolon, Anemia, Constipat...	OMIM:250250
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Squamous cell carcinoma, Abnormal esophagus morphology, Spontaneous esophageal perforation, Const...	OMIM:226600
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Abnormal lymph node mor...	ORPHA:85450
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Pulmonary Arteriovenous Malformation	Gastrointestinal infarctions, Iron deficiency anemia, Bacterial endocarditis, Liver abscess	ORPHA:2038
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Elevated carcinoma antigen 125 lev...	ORPHA:370348
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ...	OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Increased circulating ferri...	ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Gastroesophageal reflux, Vomiting, Increased hepatic echogenicity, Micr...	OMIM:619525
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan...	ORPHA:139507
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Lymphoma, Abnormal lymphocyte morphology, Episc...	ORPHA:47612
Neutrophilic Dermatosis, Acute Febrile	Acne inversa, Panniculitis, Anemia, Elevated circulating C-reactive protein concentration, Cystic...	OMIM:608068
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Inflammatory abnor...	ORPHA:1451
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase conce...	OMIM:618775
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular a...	OMIM:618165
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter...	ORPHA:1578
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Hypomagnesemia, Constipation, Hyperthyroidism, Thyrotoxicos...	ORPHA:79102
Arteriosclerosis, Severe Juvenile	Anemia, Delayed puberty, Gastric ulcer	OMIM:208060
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cryptorchidism	OMIM:620135
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Cystinosis, Nephropathic	Male hypogonadism, Decreased circulating carnitine concentration, Hypomagnesemia, Exocrine pancre...	OMIM:219800
Propionic Acidemia	Vomiting, Eczematoid dermatitis, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Con...	OMIM:606054
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Vomiting, Hypo...	OMIM:601678
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Female hypogonad...	ORPHA:91349
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Cholestasis, Splenomegaly, Hepatic steatos...	ORPHA:264580
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Elevated c...	ORPHA:90038
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production, Bilateral cleft palate	OMIM:614900
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Lymphopenia, Splenomegaly, Skin rash, Myositis, Hepatomegaly, Sinusitis, Lymphade...	OMIM:617591
Ornithine Transcarbamylase Deficiency	Pyloric stenosis	ORPHA:664
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Panc...	OMIM:613990
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Abcd Syndrome	Aganglionic megacolon, Total intestinal aganglionosis, Polycythemia	OMIM:600501
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration	OMIM:255125
Developmental And Epileptic Encephalopathy 50	Diarrhea, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia	OMIM:616457
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Prolonged neonatal jaundice, Hepatomega...	OMIM:170100
Porphyria Variegata	Abnormality of the liver, Ileus, Abnormal circulating porphyrin concentration, Hyponatremia, Cons...	ORPHA:79473
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Granulocytopenia, Cleft palate, Macrocytic anemia	OMIM:606164
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, High palate, Dysphagia, Chro...	ORPHA:261250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Skin rash, Reduced number of intrahepati...	ORPHA:79284
Juvenile Polyposis Of Infancy	Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, Protein-l...	ORPHA:79076
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Sheehan Syndrome	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:91355
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia	ORPHA:505248
Gitelman Syndrome	Vomiting, Hypomagnesemia, Hypokalemia, Constipation, Delayed puberty, Increased circulating renin...	OMIM:263800
Acquired Methemoglobinemia	Methemoglobinemia, Vomiting	ORPHA:464453
Lead Poisoning	Vomiting, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Decreased cir...	ORPHA:330015
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatome...	OMIM:617941
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Malar rash, Splenomegaly, Skin rash, Hep...	ORPHA:398124
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma citrulline, Hyper...	OMIM:620358
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Autosomal Dominant Optic Atrophy, Classic Form	Hypogonadism, Macrocytic anemia, Hypothyroidism, Dysphagia, Diabetes mellitus	ORPHA:98673
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Uveitis, Splenomegaly, Infectious encephalitis, Hyponatrem...	ORPHA:3452
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration	OMIM:618835
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Decreased serum testosterone concentration, Portal ...	ORPHA:465508
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma...	OMIM:246400
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration	OMIM:618839
Methylmalonic Aciduria, Cblb Type	Vomiting, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, E...	OMIM:251110
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Imerslund-Grasbeck Syndrome 2	Anemia, Diarrhea, Megaloblastic anemia	OMIM:618882
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Acute Adrenal Insufficiency	Normocytic anemia, Diarrhea, Androgen insufficiency, Increased circulating ACTH level, Primary ad...	ORPHA:95409
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Abnormal circulating calcium concentration, Hypomagnesemia	OMIM:248190
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Adrenal overactivity, Adrenocortical adenoma, Pheochromocy...	ORPHA:139411
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Abnorm...	ORPHA:247691
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology	ORPHA:85451
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Abnor...	ORPHA:2298
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia	OMIM:613658
Orthostatic Hypotension 2	Anemia	OMIM:618182
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Pituitary Apoplexy	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:95613
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Absence of lymph node germinal center, Chronic ...	ORPHA:79124
Neuroblastoma	Elevated circulating catecholamine level, Increased circulating ferritin concentration, Neoplasm ...	ORPHA:635
Lesch-Nyhan Syndrome	Vomiting, Podagra, Hyperuricemia, Megaloblastic anemia, Testicular atrophy, Dysphagia	OMIM:300322
Hemochromatosis, Type 1	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:235200
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Bazex Syndrome	Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Oral leukoplakia, Neoplasm, Abnormal leukocyte morphology, Thrombocy...	ORPHA:3322
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, Elevated hepa...	OMIM:614946
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Anal atresia	OMIM:617244
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Volvulus, Abnormal hemoglobin, Cryptorchidism, Infectious encephalitis, ...	ORPHA:847
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate	OMIM:614520
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Vomiting, Hypomagnesemia, Hyperaldo...	OMIM:241200
Degcags Syndrome	Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Cry...	OMIM:619488
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Elevated circulating creatine kinase concentration, Episodic vomiting, Anemia, Dysp...	OMIM:607426
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, Co...	ORPHA:186
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,...	ORPHA:90363
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Splenomegaly, Elevated circulating creatine kinase concentr...	ORPHA:79240
Kasabach-Merritt Phenomenon	Neoplasm of the skin, Microangiopathic hemolytic anemia, Capillary hemangioma, Leukopenia, Reticu...	ORPHA:2330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Atopic dermatitis, Hypomagnesemia, Decreased response to growth hormone st...	OMIM:619503
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Sepsis In Premature Infants	Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Leukocytosis, Splenomeg...	ORPHA:90051
Bartter Syndrome Type 4	Vomiting, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiot...	ORPHA:89938
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Esophageal spasms, Pancytopenia, Leukopenia, Erythroid ...	ORPHA:447
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Primary adrenal insufficiency, Diabetes mellitus	OMIM:530000
Hydatidiform Mole	Anemia, Hyperthyroidism	ORPHA:99927
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myeloma	OMIM:230800
Rat-Bite Fever	Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pus...	ORPHA:31205
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Cleft palate	OMIM:613309
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Diarrhea...	ORPHA:33226
Methylmalonic Aciduria, Cbla Type	Vomiting, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Neutropenia, Thrombocytope...	OMIM:251100
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis...	OMIM:614602
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypoparathyroidism, Hypocalcemia, Transient hypophosphatemia, Anemia	OMIM:127000
Viss Syndrome	Exostosis of the external auditory canal, Cleft soft palate, Chronic constipation, Celiac disease...	OMIM:619472
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia	OMIM:618329
Pachydermoperiostosis	Neoplasm of the skin, Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyel...	ORPHA:2796
Juvenile Polyposis Syndrome	Anemia, Hypoproteinemia	ORPHA:2929
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Gastroesophageal reflux, Vomiting, Hypogonadism, Esophagitis, Mega...	ORPHA:79351
Wolfram Syndrome	Gastrointestinal hemorrhage, Male hypogonadism, Abnormal mesentery morphology, Hypogonadism, Cons...	ORPHA:3463
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	High palate, Iron deficiency anemia, Abnormal circulating osteocalcin level	ORPHA:93315
Nephronophthisis 9	Anemia	OMIM:613824
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Dyskeratosis Congenita, Digenic	Gastroesophageal reflux, Oral leukoplakia, Squamous cell carcinoma of the skin, Decreased testicu...	OMIM:620040
Hypomagnesemia 3, Renal	Vomiting, Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Ele...	OMIM:248250
Immunodeficiency 22	Diarrhea, Protracted diarrhea, Decreased proportion of CD4-positive helper T cells, Thrombocytope...	OMIM:615758
Ogden Syndrome	Narrow palate, Diarrhea, Vomiting, Polycythemia, Eczematoid dermatitis, Recurrent otitis media, D...	OMIM:300855
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypergly...	ORPHA:470
Dopamine Beta-Hydroxylase Deficiency	Vomiting, Diarrhea, Elevated circulating creatinine concentration, Hyperinsulinemia, Increased bl...	ORPHA:230
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Re...	OMIM:193300
Tyrosinemia, Type I	Hypermethioninemia, Gastrointestinal hemorrhage, Melena, Hypophosphatemic rickets, Splenomegaly, ...	OMIM:276700
Malt Lymphoma	Posterior uveitis, Abnormality of the thyroid gland, B-cell lymphoma, Constipation, Lymphadenopat...	ORPHA:52417
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Icf Syndrome	Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils	ORPHA:2268
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Psoriasif...	ORPHA:49041
Doors Syndrome	Narrow palate, Gastroesophageal reflux, Capillary hemangioma, Aspiration pneumonia, Congenital hy...	ORPHA:79500
Gracile Syndrome	Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr...	ORPHA:53693
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspirati...	OMIM:230900
Lysinuric Protein Intolerance	Diarrhea, Intraalveolar phospholipid accumulation, Hemophagocytosis, Vomiting, Increased circulat...	OMIM:222700
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, B...	ORPHA:275761
Fanconi Anemia, Complementation Group P	Anemia, Squamous cell carcinoma, Pancytopenia, Cryptorchidism	OMIM:613951
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Abnormal circulating follicle-...	ORPHA:93325
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent otitis media, Py...	OMIM:300755
Fanconi Anemia, Complementation Group E	Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,...	OMIM:600901
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Hepatomegaly, Jaundice, Elevated circulating C-reactiv...	OMIM:620376
Trichorhinophalangeal Syndrome, Type Ii	Multiple long-bone exostoses, Rib exostoses, Gastroesophageal reflux, Recurrent pneumonia, Vomiti...	OMIM:150230
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Otitis media, Erythroi...	OMIM:612541
Renal Hypoplasia, Bilateral	Hyponatremia, Anemia, Hyperkalemia, Cryptorchidism	ORPHA:97362
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl...	ORPHA:512
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Le...	OMIM:603467
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neona...	ORPHA:499009
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Panniculitis, Reticu...	ORPHA:508542
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Increased total bilirubin, Cholestasi...	ORPHA:84081
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Enlargement of ...	ORPHA:50918
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Fanconi Anemia, Complementation Group A	Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,...	OMIM:227650
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Basal cell carcinoma, Diarrhea, Aplastic anemia, Vomiting, Hypogonadism, Fu...	ORPHA:221008
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari...	ORPHA:79259
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Aganglionic megacolon, Abnormality of the pancreas	ORPHA:935
Primary Hyperoxaluria Type 1	Anemia, Hyperoxaluria, Abnormal circulating enzyme concentration, Calcinosis	ORPHA:93598
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Macrocytic anemia, Neutropenia	OMIM:268130
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Pancreatitis, Thrombocytopenia, Anemia, Conjunctivitis, Ab...	ORPHA:36426
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored...	ORPHA:31150
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia...	OMIM:227645
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia...	ORPHA:2538
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly	ORPHA:171
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Tracheoesophageal fistula, Pancreatitis, Thrombocytopenia, Neutropen...	ORPHA:537
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Conjunctivitis, Esophagitis, Neopl...	ORPHA:2908
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Oral leukoplakia, Esophageal stricture, Decreased testicular size, P...	OMIM:305000
Osteopetrosis, Autosomal Recessive 7	Recurrent pneumonia, Splenomegaly, Hepatomegaly, Anemia, Hypocalcemic seizures	OMIM:612301
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto...	OMIM:227646
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Cleft palate, Cryptorchidism, Macrocytic anemia	OMIM:614294
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr...	ORPHA:85408
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Anemia, Tubulointerstitial ne...	OMIM:174000
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Elevated circulating catecholamine level, Polycythemia, Pancreatic ...	ORPHA:892
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration	OMIM:266900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Vomiting, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutrop...	OMIM:277400
Nephronophthisis 4	Anemia	OMIM:606966
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Megal...	ORPHA:79282
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arterioven...	OMIM:175050
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Sp...	OMIM:270400
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Blau Syndrome	Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Clear cell renal cell carcino...	ORPHA:90340
Sarcoidosis	Abnormal lymph node morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Enl...	ORPHA:797
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholel...	OMIM:188400
Fanconi Anemia	Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Hypogonadism, Leukopenia...	ORPHA:84
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis	OMIM:618947
Alkaptonuria	Black pigment gallstones, Methemoglobinemia, Prostatitis, Hypothyroidism, Arthritis, Osteoarthrit...	ORPHA:56
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Congenital pyloric atresia	ORPHA:158684
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Elevated circulating ...	ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Eosinophilia, Splenomegaly	ORPHA:75565
Williams Syndrome	Precocious puberty, Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, T...	ORPHA:904
Hardikar Syndrome	Vomiting, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Impaired growth-horm...	OMIM:301068
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Portal ...	ORPHA:774
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hematochezia, Polycythemia, Tongue telangiectasia, Gastrointestinal angiodysplasia, Hepatic arter...	OMIM:600376
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Delayed puberty, Gastric ulcer, Esophageal varix	ORPHA:2072
Pmm2-Cdg	Hypoalbuminemia, Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin	ORPHA:79318
Coffin-Siris Syndrome 1	Intestinal malrotation, Cryptorchidism, High palate, Duodenal ulcer, Gastric ulcer, Cleft palate,...	OMIM:135900
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Familial Atrial Fibrillation		ORPHA:334
Atrial Fibrillation, Familial, 4		OMIM:611493
Long Qt Syndrome 6		OMIM:613693

Histopathology

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

There is no histopathology data for Kcne2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kcne2.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Kcne2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Kcne2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Disruption of the potassium channel regulatory subunit KCNE2 causes iron-deficient anemia.	Experimental hematology (August 2014)	Kcne2^{tm1a(EUCOMM)Wtsi}	PMC4271779

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Kcne2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Kcne2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Kcne2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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