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Gene: Atp13a3 MGI:2685387

Gene Summary

Name:

ATPase type 13A3

Synonyms:

LOC224087, LOC385637, LOC224088

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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 circulating cholesterol level	Atp13a3^em1(IMPC)J	HOM	Early adult	1.87×10^-14
increased leukocyte cell number	Atp13a3^em1(IMPC)J	HOM	Early adult	1.77×10^-25
decreased exploration in new environment	Atp13a3^em1(IMPC)J	HOM	Early adult	3.35×10^-07
increased heart weight	Atp13a3^em1(IMPC)J	HOM	Early adult	4.56×10^-16
increased erythrocyte cell number	Atp13a3^em1(IMPC)J	HOM	Early adult	2.15×10^-35
decreased mean corpuscular hemoglobin	Atp13a3^em1(IMPC)J	HOM	Early adult	4.20×10^-06
decreased circulating serum albumin level	Atp13a3^em1(IMPC)J	HOM	Early adult	9.81×10^-36
increased hematocrit	Atp13a3^em1(IMPC)J	HOM	Early adult	2.91×10^-37
thrombocytopenia	Atp13a3^em1(IMPC)J	HOM	Early adult	7.46×10^-12
increased circulating alanine transaminase level	Atp13a3^em1(IMPC)J	HOM	Early adult	6.25×10^-09
abnormal skin coloration	Atp13a3^em1(IMPC)J	HOM	Early adult	1.71×10^-07
male infertility	Atp13a3^em1(IMPC)J	HOM	Early adult	0.00
decreased mean corpuscular volume	Atp13a3^em1(IMPC)J	HOM	Early adult	1.82×10^-13
increased circulating aspartate transaminase level	Atp13a3^em1(IMPC)J	HOM	Early adult	1.29×10^-19
decreased circulating total protein level	Atp13a3^em1(IMPC)J	HOM	Early adult	1.18×10^-34
improved glucose tolerance	Atp13a3^em1(IMPC)J	HOM	Early adult	3.45×10^-20
increased circulating alkaline phosphatase level	Atp13a3^em1(IMPC)J	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Atp13a3^em1(IMPC)J	HOM	Early adult	2.42×10^-33
decreased blood urea nitrogen level	Atp13a3^em1(IMPC)J	HOM	Early adult	7.12×10^-10
increased bone mineral content	Atp13a3^em1(IMPC)J	HOM	Early adult	5.07×10^-05
abnormal retina blood vessel morphology	Atp13a3^em1(IMPC)J	HOM	Early adult	7.77×10^-06
increased circulating bilirubin level	Atp13a3^em1(IMPC)J	HOM	Early adult	0.00
abnormal cholesterol homeostasis	Atp13a3^em1(IMPC)J	HOM	Early adult	0.00
decreased circulating triglyceride level	Atp13a3^em1(IMPC)J	HOM	Early adult	9.05×10^-05
decreased circulating glucose level	Atp13a3^em1(IMPC)J	HOM	Early adult	2.42×10^-16
increased startle reflex	Atp13a3^em1(IMPC)J	HOM	Early adult	7.60×10^-05
decreased locomotor activity	Atp13a3^em1(IMPC)J	HOM	Early adult	1.05×10^-11
increased anxiety-related response	Atp13a3^em1(IMPC)J	HOM	Early adult	1.99×10^-05
decreased fasting circulating glucose level	Atp13a3^em1(IMPC)J	HOM	Early adult	6.58×10^-09

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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X-ray

XRay Images Skull Lateral Orientation

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Electroretinography 3

Fundus file

4 Images

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X-ray

XRay Images Forepaw

6 Images

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Electrocardiogram (ECG)

Waveform Image

25 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

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Human diseases caused by Atp13a3 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 Atp13a3 (1 diseases)
Human diseases predicted to be associated with Atp13a3 (960 diseases)

The table below shows human diseases associated to Atp13a3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pulmonary Hypertension, Primary, 5		Right ventricular hypertrophy	OMIM:265400

The table below shows human diseases predicted to be associated to Atp13a3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil...	ORPHA:673
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Lethargy,...	ORPHA:247585
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytope...	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer...	OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ...	OMIM:619868
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia,...	OMIM:237800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Mental deterioratio...	OMIM:208920
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Hypopigmentation of the skin, Abnormal natural kille...	ORPHA:167
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Mental...	OMIM:617575
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia...	OMIM:209950
Dengue Fever	Hepatomegaly, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,...	ORPHA:96180
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Tremor, Bradykinesia, Steppage gait, Increased total iron bindin...	OMIM:613280
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leuko...	ORPHA:507
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio...	OMIM:620010
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ...	OMIM:603554
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:618805
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Johanson-Blizzard Syndrome	Diabetes mellitus, Dextrocardia, Abnormal cardiac septum morphology, Hypoproteinemia, Anemia	ORPHA:2315
Primary Intestinal Lymphangiectasia	Pericardial effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypoca...	ORPHA:90362
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Melanocytic nevus, Anemia, Abnormal cardiac septum morphology, Decreased sku...	ORPHA:3319
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-...	ORPHA:64753
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, A...	OMIM:603552
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Cardiomegaly	ORPHA:88643
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Hyp...	ORPHA:2070
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,...	ORPHA:713
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l...	OMIM:269920
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	ORPHA:158048
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukocytosis, Myocarditis...	ORPHA:292
Wolcott-Rallison Syndrome	Hyponatremia, Atrial septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, H...	ORPHA:1667
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Cryptorchidism, Pigmentary retinopathy, Hypogonadism, Neonatal hyperbilirubinemia, Retina...	ORPHA:3363
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil...	OMIM:615895
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme...	OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm...	ORPHA:247598
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, C...	ORPHA:64743
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Hyperpigmentation of the skin, Leukocytosis, Hyperpigmented stre...	ORPHA:542643
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Cryptorchidism, Hypoproteinemia, Aggressive behavior	OMIM:608093
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Abnormality of skin pigmentation	OMIM:237450
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Perimembrano...	OMIM:608104
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Alg6-Cdg	Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dystrophy, Retinal deg...	ORPHA:79320
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, ...	ORPHA:79312
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogo...	OMIM:212065
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hyperpigmentation of the skin, Incre...	OMIM:606069
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Splenomegal...	ORPHA:309854
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Irritability, Dystonia, Loss of ambulation,...	OMIM:615010
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,...	OMIM:254900
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increa...	OMIM:616278
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Pericarditis, Pericardial effusion, Chorioretinal atrophy, Optic ...	OMIM:619487
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Retinal dystrophy, Ataxia, Elevated circulating phytanic acid concentration, Osteop...	OMIM:266510
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoa...	ORPHA:27
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, He...	OMIM:259720
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, H...	OMIM:251880
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Hepatomegaly	OMIM:214900
Poems Syndrome	Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Pericardial effus...	ORPHA:2905
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Dystonia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutrop...	ORPHA:289916
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Inability to walk, Optic atrophy, Enlarged kidney, Anemia, Leukopenia...	OMIM:617303
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Classic Galactosemia	Reduced bone mineral density, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insuffi...	ORPHA:79239
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Squalene Synthase Deficiency	Bicuspid aortic valve, Optic nerve hypoplasia, Increased circulating farnesol concentration, Bila...	OMIM:618156
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Hyperactivity, Hypoglycemia, Insulin resistance, Osteoporosis, Hypogonadism...	ORPHA:73272
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Wilson Disease	Limb dystonia, Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration,...	OMIM:277900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Hypocalcemia, Hypoproteinemia	OMIM:235255
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter	OMIM:618347
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Retinal dystrophy, Ventricular septal defect, Anorexia, Megaloblastic anemia, ...	ORPHA:49827
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Ventricular septal defe...	OMIM:249270
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Propionic Acidemia	Hepatomegaly, Pancytopenia, Dystonia, Hypoglycemia, Thrombocytopenia, Osteoporosis, Hyperammonemi...	OMIM:606054
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent...	OMIM:610947
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo...	OMIM:300438
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Alg12-Cdg	Hyponatremia, Retinal detachment, Cryptorchidism, Muscular ventricular septal defect, Abnormal bo...	ORPHA:79324
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi...	OMIM:615703
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Irritability, Neutropenia,...	OMIM:229050
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Anorexia, Thrombocytopenia, Reticulocytopenia, ...	OMIM:557000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Splenomegaly, Hepatosplenomegaly, Hypoca...	ORPHA:1655
Liver Disease, Severe Congenital	Cardiomegaly, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Atria...	OMIM:619991
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia	OMIM:607765
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, Patent foramen ovale, Hypocholesterolemia, Atrial septa...	OMIM:610883
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy	ORPHA:71
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor...	OMIM:185000
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Depression, Anemia, Decreased serum zinc...	ORPHA:89842
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir...	OMIM:618528
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia...	ORPHA:85443
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Cons...	ORPHA:67
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Mpi-Cdg	Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Congenital Bile Acid Synthesis Defect Type 2	Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Abnormal seru...	ORPHA:79303
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Cog4-Cdg	Ataxia, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atroph...	OMIM:618329
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea	OMIM:602579
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Cardiomyopathy, H...	OMIM:251000
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Abnormal circulating glutamine c...	ORPHA:101028
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb...	ORPHA:54057
Bachmann-Bupp Syndrome	Hypoglycemia, Aggressive behavior, Cryptorchidism, Attention deficit hyperactivity disorder, Hype...	OMIM:619075
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho...	ORPHA:88618
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance, Hyperbilirubinemia	OMIM:301094
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia, Hepatomegaly	OMIM:613070
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Dystonia, Hepatomegaly, Anisocytosis,...	OMIM:618278
Isolated Polycystic Liver Disease	Hepatomegaly, Increased total bilirubin	ORPHA:2924
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Hypoglycemia, Elevated circulating creatine kinase co...	ORPHA:99826
Preeclampsia	Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Hepatic Veno-Occlusive Disease	Hepatomegaly, Increased total bilirubin	ORPHA:890
Distal Xq28 Microduplication Syndrome	Impulsivity, Aggressive behavior, Depression, Self-biting, Tip-toe gait, Stereotypical body rocki...	ORPHA:293939
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Optic a...	ORPHA:210110
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Dystonia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Acute Interstitial Pneumonia	Pericardial effusion, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated...	ORPHA:79126
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Normochromic anem...	OMIM:614857
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Overlap Myositis	Diabetes mellitus, Elevated circulating creatine kinase concentration, Abnormal heart morphology,...	ORPHA:206572
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Optic atrophy, Dysmetr...	OMIM:617710
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Tetralogy ...	OMIM:222470
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Confusion, Myocarditis, Elevated cir...	ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating cr...	OMIM:617872
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea	OMIM:235555
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:232400
Abcd Syndrome	Polycythemia, Hypopigmentation of the fundus, Albinism	OMIM:600501
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Inability to walk, Optic atrophy, Enlarged kidney, Hepatospl...	ORPHA:505248
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Ataxia, El...	ORPHA:3008
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Hypoglycemic seizures, Polyphagia, Hyperbilirubinemia	OMIM:609734
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Thrombocytopenia	ORPHA:1980
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary ...	OMIM:612526
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, Anemia, Cognitive impairment, Th...	ORPHA:858
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Irritability, Hypertrophic ...	ORPHA:369
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Aicardi-Goutieres Syndrome 3	Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype...	OMIM:619386
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Atrial s...	OMIM:620184
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypog...	ORPHA:79237
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H...	ORPHA:811
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pig...	OMIM:222300
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia	OMIM:614082
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po...	ORPHA:100924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Hypoglycemia, Thrombocytopenia	ORPHA:67048
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypo...	ORPHA:367
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes melli...	ORPHA:231222
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:608836
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop...	ORPHA:31150
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Opisthotonus, Irritability, Increased serum bile acid concentration, Hy...	OMIM:619685
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ...	ORPHA:2169
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio...	OMIM:231000
Rhabdoid Tumor	Thrombocytopenia, Irritability, Hypercalcemia, Anemia	ORPHA:69077
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hyperpigmentation of the skin, Craniosynostosis, Depigmentation/hyperpigmentation of skin, Genera...	ORPHA:79396
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Thromb...	OMIM:598500
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Hyperactivity, Ataxia, Elevated circulating cre...	OMIM:615673
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Irritability, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, N...	ORPHA:348
Fumarase Deficiency	Optic atrophy, Polycythemia, Perimembranous ventricular septal defect, Hyperbilirubinemia	OMIM:606812
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Holocarboxylase Synthetase Deficiency	Ataxia, Anorexia, Hyperammonemia, Irritability, Lethargy, Thrombocytopenia	ORPHA:79242
Babesiosis	Hemolytic anemia, Hepatomegaly, Confusion, Anorexia, Splenomegaly, Depression, Leukopenia, Thromb...	ORPHA:108
Idiopathic Congenital Hypothyroidism	Lethargy, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia	ORPHA:95717
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly	ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Cystic Echinococcosis	Hepatomegaly, Eosinophilia, Abnormality of the testis size, Abscess, Bone cyst, Abnormal heart mo...	ORPHA:400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog...	OMIM:619055
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Iron defic...	OMIM:300855
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Hypopigmentation of the skin, Hyperpigmentation of...	ORPHA:79277
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp...	OMIM:227810
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop...	OMIM:618886
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy...	ORPHA:99901
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Ataxia, Elevated circulating creatine kinase co...	OMIM:610377
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets	OMIM:211600
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ...	ORPHA:3240
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Irregular hyperpigmentation, Leukemia, Hypoplastic anemia, Thromboc...	OMIM:194350
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Ventricular septal defec...	ORPHA:290
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Lethargy, Delirium, Re...	ORPHA:79282
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Thin bony cortex, Hypoglycemia, Rickets, Reduced bone mineral density, ...	OMIM:613658
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to...	OMIM:608885
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Hepatomegaly, Abnormal...	ORPHA:470
Bleeding Disorder, Platelet-Type, 19	Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Familial Thyroid Dyshormonogenesis	Lethargy, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin le...	ORPHA:95716
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment	ORPHA:364
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration...	OMIM:274150
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov...	OMIM:208085
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	ORPHA:465508
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Progressive neurologic deterioration, Optic atrophy, Hyperammonemia, Dysphagia, Irr...	OMIM:618253
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu...	OMIM:611590
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly, Rickets	OMIM:619232
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Hypopigmented skin patches, Leuko...	ORPHA:381
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Anorexia, Abnormality of the me...	ORPHA:330015
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis, Osteolysis involvi...	ORPHA:464321
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Optic disc pallor, Increased bone mineral density, Hepatomegaly, Splenomegaly, T...	OMIM:611490
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Depression, Attention deficit hyperactivity dis...	ORPHA:90674
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperam...	OMIM:618120
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Confusion, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypera...	OMIM:212140
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia	OMIM:618810
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Myocardial fibrosis, Thrombocytopenia, Hepatospleno...	ORPHA:210136
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Atrial septal defect, Elevated circulating long chain fatty acid concentratio...	OMIM:614886
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Optic...	OMIM:259700
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, S...	ORPHA:116
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Anemia, Leukopenia, Attention deficit hype...	OMIM:619151
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocy...	OMIM:277380
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251110
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thro...	OMIM:613839
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:619662
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia, Lethargy	ORPHA:2089
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Retinal cotton wool spot, Progressive neurologic deterioration, Abnormal retin...	ORPHA:247691
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ...	ORPHA:846
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Primary Sclerosing Cholangitis	Osteopenia, Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplen...	ORPHA:171
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Anemia, Vitiligo	OMIM:184850
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Confusion, Megaloblastic anemia, Tremor, Hyperhomocyst...	OMIM:277400
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyp...	OMIM:251100
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas...	OMIM:609049
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Glycosuria, Right ventric...	OMIM:613404
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Graft Versus Host Disease	Irritability, Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Peric...	OMIM:618775
Hsd10 Disease, Infantile Type	Restlessness, Dystonia, Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Choreoathetosi...	ORPHA:391428
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly	OMIM:613977
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea	OMIM:613812
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Thrombocytopenia, Cryptorchidism, Rad...	OMIM:617053
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca...	OMIM:618183
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Sengers Syndrome	Osteopenia, Premature ovarian insufficiency, Mental deterioration, Hypertrophic cardiomyopathy, T...	OMIM:212350
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating branched chain amino acid concentration, Ataxia, Hypoglycemia,...	ORPHA:2394
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:79240
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Ataxia, Hypoglycemia, Dystonia, Type I di...	OMIM:616113
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration	OMIM:243300
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Cry...	OMIM:235510
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Leukocytosis, Memory impairment, Addictive alcohol use, Cog...	ORPHA:90065
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Abnormality of skin pi...	ORPHA:355
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly	OMIM:601847
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal circulating lipid concentr...	ORPHA:186
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Juvenile Polyposis Of Infancy	Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia	ORPHA:79076
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Sea-blue...	ORPHA:158029
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Autoimmune Hepatitis	Splenomegaly, Vitiligo, Depression, Increased total bilirubin	ORPHA:2137
Intrahepatic Cholestasis Of Pregnancy	Tremor, Increased serum bile acid concentration, Hyperbilirubinemia, Depression	ORPHA:69665
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Thromboc...	OMIM:617052
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Dystonia, Hypera...	OMIM:614702
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Prematu...	ORPHA:199299
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia, Hepatomegaly	OMIM:261750
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Abnormality of skin pigmentation, Tics, Chorioretinal coloboma, Compulsive...	OMIM:619475
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Confusion, Increased circulating free fatty aci...	ORPHA:71212
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Galloway-Mowat Syndrome 1	Ataxia, Optic atrophy, Hypoalbuminemia, Dystonia, Hypopigmentation of the skin	OMIM:251300
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concentration...	ORPHA:36238
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, ...	ORPHA:77293
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Xfe Progeroid Syndrome	Optic atrophy, Premature ovarian insufficiency, Hypoalbuminemia, Attenuation of retinal blood ves...	OMIM:610965
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Tremor, Thrombocytopenia, Spleno...	OMIM:214500
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce...	OMIM:614576
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia, Erythroid hyperplasia, Emotional la...	OMIM:300653
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Aggressive Systemic Mastocytosis	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, ...	ORPHA:98850
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Confusion, Leukocytosis, Depression, Thrombocytopenia	ORPHA:83601
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase...	ORPHA:845
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly, Cryptorchid...	OMIM:614866
Ataxia-Telangiectasia	Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hyp...	OMIM:208900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Athetosis, Hyperalaninemia	OMIM:266150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosi...	ORPHA:824
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:212138
Dubowitz Syndrome	Short attention span, Hyperactivity, Aplastic anemia, Cryptorchidism, Acute lymphoblastic leukemi...	OMIM:223370
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomeg...	ORPHA:42
Leptospirosis	Papilledema, Hepatomegaly, Pericarditis, Anorexia, Retinal hemorrhage, Chorioretinitis, Hyperprot...	ORPHA:509
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Stomatoc...	ORPHA:168577
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Aggressive behavior, Splenomegaly, Hypersexuali...	ORPHA:905
Pearson Syndrome	Hypocalcemia, Neutropenia, Reticulocytosis, Hepatomegaly, Ataxia, Cardiomyopathy, Hypokalemia, Hy...	ORPHA:699
Alg8-Cdg	Hyponatremia, Ataxia, Optic atrophy, Anemia, Retinopathy, Thrombocytopenia	ORPHA:79325
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Elevated circulating creatine ki...	OMIM:301056
Caroli Disease	Hepatomegaly, Liver abscess, Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis,...	ORPHA:53035
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Hypopigmented skin patches, Anemia, Hypocalcemia, Neutrope...	ORPHA:47
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Caroli Syndrome	Hepatomegaly, Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopen...	ORPHA:480520
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Noonan Syndrome 12	Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia	OMIM:618624
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Thrombocytopenia, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, At...	ORPHA:163979
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Aicardi-Goutieres Syndrome 5	Irritability, Thrombocytopenia	OMIM:612952
Senior-Boichis Syndrome	Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol...	ORPHA:84081
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia	OMIM:214950
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Optic atrophy, Diaphyseal scler...	OMIM:259710
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb dystonia, Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Dysmetria, Athetosis, ...	ORPHA:572798
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia	ORPHA:542323
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia	OMIM:613027
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemoph...	OMIM:301078
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Lethargy, Hypertrophic cardiomyopathy	ORPHA:156
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Dementia, ...	ORPHA:101096
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Lethargy, Hyperammonemia, Irritability	OMIM:253270
Schimke Immuno-Osseous Dysplasia	Hypermelanotic macule, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cell...	ORPHA:1830
Tularemia	Brain abscess, Confusion, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess	ORPHA:3392
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy	ORPHA:35
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperurice...	ORPHA:134
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki...	OMIM:615631
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Seckel Syndrome 10	Ventricular hypertrophy, Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated he...	OMIM:617253
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Ventricular septal defect, Aggressive behavior, Cryptorchi...	ORPHA:163956
Felty Syndrome	Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Splenomegaly, Osteolysis, Anemia, Neut...	ORPHA:47612
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym...	ORPHA:229717
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Dysphagia	OMIM:619751
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh...	OMIM:231200
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly	ORPHA:234
Bleeding Disorder, Platelet-Type, 20	Menorrhagia, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Menorrhagia, Thrombocytopenia	OMIM:613554
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of...	OMIM:614171
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Anemia	OMIM:246450
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Hardikar Syndrome	Hepatomegaly, Ventricular septal defect, Hypersplenism, Splenomegaly, Partial anomalous pulmonary...	OMIM:301068
Shigellosis	Hyponatremia, Hypoglycemia, Abscess, Anorexia, Myocarditis, Leukocytosis, Abnormal blood ion conc...	ORPHA:810
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Abnormality of skin pigmentation, Leukopenia, Iron deficie...	OMIM:619488
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Sple...	OMIM:270400
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk...	ORPHA:94093
Moyamoya Disease 6 With Or Without Achalasia	Impotence, Thrombocytopenia, Dysphagia	OMIM:615750
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian insuffic...	ORPHA:85138
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Snakebite Envenomation	Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia	ORPHA:449285
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal opt...	ORPHA:3226
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Osteoporosis, Reticular hyperpigmentation, Anemia, Leukopenia, Increased...	OMIM:127550
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Ataxia, Reticulocytosis	ORPHA:33574
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Anorexia, Tremor, Leukocytosis, Depression...	ORPHA:297
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, High nonceruloplasmin-bound serum copper, Limb dyston...	ORPHA:457351
Smith-Kingsmore Syndrome	Cryptorchidism, Cafe-au-lait spot, Hypoglycemia, Thrombocytopenia	OMIM:616638
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Anorexia, Hypersplenism, ...	ORPHA:77259
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Hepatomegaly	OMIM:605479
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of a...	ORPHA:525731
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia	OMIM:609727
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Hypersplenism, Spleno...	OMIM:230800
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio...	OMIM:201475
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:603909
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Myocarditis, Macular edema, Cardiomyop...	ORPHA:892
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, S...	ORPHA:95409
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Lujo Hemorrhagic Fever	Resting tremor, Confusion, Elevated circulating C-reactive protein concentration, Myocarditis, Le...	ORPHA:319213
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Neonatal hypoglycemia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Neutr...	OMIM:616271
Isovaleric Acidemia	Leukopenia, Pancytopenia, Lethargy, Thrombocytopenia	OMIM:243500
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia	OMIM:613471
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating f...	ORPHA:567983
Juvenile Polyposis Syndrome	Brain abscess, Hypoproteinemia, Anemia	ORPHA:2929
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increa...	OMIM:194380
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia...	OMIM:227650
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Delayed proximal femoral epiphyseal ossification, Increased circulating thyroglobulin l...	ORPHA:90673
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor...	OMIM:612562
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Ataxia, Anorexia, Leukocytosis, Dilated cardiomyopathy, Hy...	ORPHA:20
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat...	ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Pancreatic hyperp...	ORPHA:99829
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Castleman Disease	Myelofibrosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Decreased...	ORPHA:160
Fructose Intolerance, Hereditary	Hepatomegaly, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypoph...	OMIM:229600
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Increa...	ORPHA:261250
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Ne...	ORPHA:520
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Optic disc pallor, Ventricular septal defect, Hypocholesterolemia	OMIM:244450
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Lung abscess, Elevated circulating C-reactive protein ...	ORPHA:1304
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Reticulated skin pigmentation, Cryptorchidism, Osteoporosi...	OMIM:613990
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Thrombocytopenia, Steato...	OMIM:260400
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:90051
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con...	OMIM:614887
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability	ORPHA:3198
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Schimke Immunoosseous Dysplasia	Waddling gait, Osteopenia, Pancytopenia, Hypermelanotic macule, Bilateral cryptorchidism, Abnorma...	OMIM:242900
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax...	OMIM:617101
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Thrombocytopenia	OMIM:611126
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia	OMIM:152700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Spleno...	OMIM:615688
Stt3B-Cdg	Cryptorchidism, Optic atrophy, Thrombocytopenia	ORPHA:370924
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia	OMIM:274240
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Oral-pharyngeal dysphag...	OMIM:616878
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Optic atrophy, Thrombocytopenia	OMIM:615597
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Glycogen Storage Disease Ib	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemi...	OMIM:232220
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Opisthotonus	ORPHA:95232
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Osteolys...	OMIM:263700
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Hyperpigmentation of the skin, Cryptorchidism, Reti...	OMIM:600901
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hy...	OMIM:619534
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Mitral valve calcification, A...	ORPHA:77261
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration	ORPHA:676
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Albinism, Impaired ADP-ind...	OMIM:614074
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Osteoporosis, Anemia, Exudativ...	OMIM:612199
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary steno...	OMIM:620185
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ...	OMIM:150550
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Neurooculorenal Syndrome	Decreased circulating cortisol level, Dextrocardia, Conjugated hyperbilirubinemia, Cryptorchidism...	OMIM:620305
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Lig4 Syndrome	Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Type II diabetes mellitus, Thrombocyt...	OMIM:606593
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Hepatos...	OMIM:608013
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Thrombocytopenia	OMIM:616577
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia	OMIM:246400
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp...	OMIM:300972
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 r...	OMIM:608233
Infantile Liver Failure Syndrome 2	Lethargy, Hypoglycemia, Hyperammonemia, Cardiomyopathy	OMIM:616483
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Anemia, ...	OMIM:606003
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ...	ORPHA:2785
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia...	ORPHA:79259
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Generalized hyperpigmentation, Ataxia, Anemia, Thrombocytopenia	ORPHA:3322
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Hyperinsulinemic hypoglycemia, Vaginitis,...	ORPHA:2968
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Xanthelasma, Hepatomegaly, Splenomegaly	ORPHA:30391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Pericardial effusion, Increased circulating ferriti...	OMIM:615846
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impaired glucose tol...	OMIM:256040
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Inability to walk, Splenomegaly, Cardiomyopathy, Dystonia, Self-mutilation, Thrombo...	OMIM:225750
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Dilated cardiomyopathy, Osteoporosi...	OMIM:613989
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Polycythemia	OMIM:193300
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio...	OMIM:268800
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Confusion, Hypoglycemia, Increased circulating cort...	ORPHA:95613
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Good Syndrome	Abnormal leukocyte morphology, Diabetes mellitus, Anemia, Dysphagia, Thrombocytopenia	ORPHA:169105
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Cranioectodermal Dysplasia 2	Hepatomegaly, Craniosynostosis, Splenomegaly, Polysplenia, Hyperbilirubinemia, Atrial septal defe...	OMIM:613610
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Retinal arterial occlusion, Coombs-positive hemolyt...	ORPHA:464343
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Congen...	ORPHA:182050
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Macular atrophy, Neonatal hyp...	OMIM:619418
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Stereotypical body rocking, Bru...	ORPHA:261323
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia, Fasting hyp...	OMIM:232200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Hyperpigmentation of the skin, Ventricular septal d...	OMIM:227645
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i...	ORPHA:309246
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Kikuchi-Fujimoto Disease	Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Thrombocyt...	ORPHA:50918
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypopla...	OMIM:612541
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Pancytopenia, Testicular atrophy, Thrombocytopenia	OMIM:613987
Eisenmenger Syndrome	Brain abscess, Hepatomegaly, Ventricular septal defect, Elevated circulating C-reactive protein c...	ORPHA:97214
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot...	OMIM:608643
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Cryptorchidism, Giant platelets, Anemia, Left ventricular hypertrophy, Thrombocytopenia	OMIM:611209
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Cushing Disease	Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame...	ORPHA:96253
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Cryptorchidism, Anemia, Leukopenia, Atrial septal defect, Cafe-au-...	OMIM:603467
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male h...	OMIM:219800
Mirizzi Syndrome	Hyperbilirubinemia, Anorexia	ORPHA:521219
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:170100
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Cognitive impairment, Lympho...	ORPHA:93552
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydrocele testis, Dystonia, Atrial...	ORPHA:79330
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Abnormal heart m...	OMIM:227646
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Acute Radiation Syndrome	Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm...	ORPHA:454831
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:619463
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Dyskeratosis Congenita	Hepatomegaly, Diabetes mellitus, Hypermelanotic macule, Abnormality of neutrophils, Thrombocytope...	ORPHA:1775
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Lethargy, Thrombocytopenia, Hepatomegaly	OMIM:617397
Acute Liver Failure	Ataxia, Confusion, Hypoglycemia, Hyperammonemia, Depression, Euphoria, Agitation, Emotional labil...	ORPHA:90062
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Osteomalacia, Cryptorchidism, Depression, A...	ORPHA:534
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer ...	ORPHA:79124
Pseudo-Torch Syndrome 1	Hepatomegaly, Splenomegaly, Dystonia, Patent foramen ovale, Thrombocytopenia	OMIM:251290
Immunodeficiency 22	Pericarditis, Abscess, Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T ...	OMIM:615758
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio...	OMIM:276700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Rickets, Glycosuria, Hypophosphatemia	OMIM:616026
Beemer-Ertbruggen Syndrome	Cryptorchidism, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Osteoporosis, Reticular hyperpigmen...	OMIM:224230
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Ebola Hemorrhagic Fever	Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia	ORPHA:319218
Pmm2-Cdg	Osteopenia, Pericarditis, Hypogonadotropic hypogonadism, Ataxia, Pericardial effusion, Reduced th...	ORPHA:79318
Kaposiform Lymphangiomatosis	Metrorrhagia, Pericardial effusion, Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnorma...	ORPHA:464329
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Ano...	ORPHA:99827
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Noonan Syndrome 4	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:610733
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Patent foramen ovale, Neutr...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:3260
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Hype...	ORPHA:544482
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha...	ORPHA:466650
Takenouchi-Kosaki Syndrome	Ataxia, Increased mean platelet volume, Cryptorchidism, Optic atrophy, Abnormal cardiac septum mo...	OMIM:616737
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Steatorrhea, Neutropenia, Thrombocytopenia	OMIM:617941
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Farber Disease	Osteoporosis, Hepatosplenomegaly, Anemia, Macular degeneration, Cherry red spot of the macula, Th...	ORPHA:333
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplastic anemia, Ventricular septal defect...	OMIM:300514
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at...	ORPHA:276183
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Rod-cone dystrophy, Thrombocytopenia	ORPHA:96181
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Acquired Methemoglobinemia	Methemoglobinemia, Confusion	ORPHA:464453
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
Gaucher Disease, Type Ii	Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Anemia, Dysphagia, Thrombocytop...	OMIM:230900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Retinal degeneration	OMIM:208500
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Optic disc coloboma, Hydrocele testis, Unconjugated hyperbilirubinemia, At...	OMIM:620186
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri...	OMIM:603903
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Hypera...	OMIM:251260
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Cryptorchidism, Optic atrophy, Depression, Self-injurious behavior, Anemia	ORPHA:847
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Attention deficit hyperactivity...	OMIM:619005
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	ORPHA:169090
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Hepatomegaly	OMIM:616433
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,...	ORPHA:508542
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple...	ORPHA:781
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Progressive neurologic deterioration, Cryptorchidism, Delayed epiphyse...	OMIM:210710
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Atrial septal defect, Thrombocytopenia, Cryptorchidis...	ORPHA:84
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Dextrocardia, Male infertility, Situs inversus totalis	OMIM:618948
Quebec Platelet Disorder	Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia	ORPHA:3000
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Bicuspid...	ORPHA:438213
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Menorrhagia, Thrombocytopenia	OMIM:277480
Primary Ciliary Dyskinesia	Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen...	ORPHA:244
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ir...	OMIM:617864
Hemorrhagic Fever-Renal Syndrome	Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr...	ORPHA:340
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Thrombocytopenia	OMIM:308230
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Neonatal hypoglycemia, Cryptorchidism, Dysphagi...	OMIM:619004
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Hypoasparaginemia	OMIM:615574
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual...	ORPHA:906
Dubowitz Syndrome	Abnormality of neutrophils, Craniosynostosis, Cryptorchidism, Acute lymphoblastic leukemia, Anemi...	ORPHA:235
Adams-Oliver Syndrome	Leukopenia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Thrombocytopenia	ORPHA:974
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature...	ORPHA:125
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Cryptorchidism, Osteoporosis, Lethargy	OMIM:307030
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormality of thrombocytes, Abnormal pulmonary valve morphology, Reti...	ORPHA:567
Ciliary Dyskinesia, Primary, 14	Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility	OMIM:613807
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Rift Valley Fever	Retinitis, Anorexia, Retinal hemorrhage, Macular edema, Anemia, Retinal vasculitis, Thrombocytopenia	ORPHA:319251
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse, Hepatosplenom...	ORPHA:309155
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect	OMIM:619769
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Ataxia, Hyperpigmentation of the skin, Reticulated skin pig...	OMIM:305000
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Tremor, Cardiomegaly, Chronic lymphatic ...	ORPHA:51
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Decreased circulating cortisol level, Increased circulating corticosterone leve...	ORPHA:90793
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Blue Rubber Bleb Nevus	Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia	OMIM:112200
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Brain abscess, Choriocapillaris atrophy, Polycythemia, Anemia	OMIM:600376
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia	OMIM:232240
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Stevens-Johnson Syndrome	Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Dysphagia, Abnormal myocardium morphol...	ORPHA:36426
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Fibular Hemimelia	Craniosynostosis, Abnormal heart morphology, Difficulty walking, Abnormal bone ossification, Thro...	ORPHA:93323
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Increased VLDL cholesterol concentrat...	OMIM:243800
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Broad-based gait, Mitral valve calcification, Abnormality of the splee...	ORPHA:2072
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microc...	OMIM:301040
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Attention deficit hyperactivity di...	ORPHA:647
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Primary Sjögren Syndrome	Normocytic anemia, Depression, Leukopenia, Normochromic anemia, Dementia, Optic neuritis, Cogniti...	ORPHA:289390
Toxic Epidermal Necrolysis	Neutropenia, Anemia, Dysphagia, Abnormal myocardium morphology, Polydipsia, Thrombocytopenia	ORPHA:537
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Thrombocytopenia	OMIM:612394
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Postural tremor, Ataxia, Splenomegaly, Truncal ataxia, Thrombocytopenia	OMIM:301072
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking	ORPHA:320406
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Hepatomegaly	ORPHA:46059
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Atten...	ORPHA:8
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Enlarged kidney, Hepatosplenomegaly, Increased serum b...	ORPHA:731
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Cryptorchidism, Anemia, Atrial sept...	OMIM:620005
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Brain abscess, Polycythemia, Anemia	OMIM:187300
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Ivic Syndrome	Leukocytosis, Tetralogy of Fallot, Thrombocytopenia	OMIM:147750
Thrombocytopenia-Absent Radius Syndrome	Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia	ORPHA:3320
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, T...	OMIM:619525
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Jacobsen Syndrome	Ventricular septal defect, Cryptorchidism, Optic atrophy, Macular hypoplasia, Chorioretinal colob...	OMIM:147791
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Hypercalcemia, Eosinophilia, Throm...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Rod-cone dystrophy, Neonatal hyperbilirubinemia	OMIM:300896
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Systemic Lupus Erythematosus	Hemolytic anemia, Depression, Leukopenia, Retinopathy, Thrombocytopenia	ORPHA:536
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Hepatomegaly, Eosi...	ORPHA:3261
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Dystonia, Cherry red spot of th...	ORPHA:79255
Cornelia De Lange Syndrome 1	Ventricular septal defect, Cryptorchidism, Optic disc coloboma, Optic atrophy, Self-injurious beh...	OMIM:122470
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale	OMIM:620327
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ...	OMIM:274000
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Optic atrophy, Abnormal heart morphology, Total anomalous pulmona...	ORPHA:487796
Digeorge Syndrome	Ventricular septal defect, Splenomegaly, Anemia, Hydrocele testis, Hypoplasia of the thymus, Hypo...	OMIM:188400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy, Cognitive impairment, Dysphagia	OMIM:617527
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella, Situs inversus totalis	OMIM:620197
Jacobsen Syndrome	Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Attention deficit hyperactivit...	ORPHA:2308
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis	OMIM:608800
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Dysphagia	OMIM:617301
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Optic atrophy, Exaggerated startle response	OMIM:617281
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Osteogenesis Imperfecta	Osteopenia, Abnormal endocardium morphology, Ataxia, Osteoporosis, Mitral valve prolapse, Decreas...	ORPHA:666
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular...	OMIM:163950
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353281
Ciliary Dyskinesia, Primary, 1	Asplenia, Male infertility, Situs inversus totalis	OMIM:244400
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Roberts Syndrome	Cryptorchidism, Craniosynostosis, Thrombocytopenia	ORPHA:3103
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct...	ORPHA:90797
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Dextrocardia, Situs inversus totalis	OMIM:619607
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353277
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia	ORPHA:79078
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Cystic Fibrosis	Male infertility, Hepatomegaly, Cor pulmonale, Hepatosplenomegaly, Steatorrhea	OMIM:219700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Ventricular septal defect, Cryptorchidism, Hydrocele testis, Chorde...	OMIM:619522
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400

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 Atp13a3

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 Atp13a3.

No publications found that use IMPC mice or data for Atp13a3.

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MGI Allele	Allele Type	Produced
Atp13a3^em2H	Point Mutation	Mice
Atp13a3^{tm46896(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Atp13a3^em1(IMPC)J	Exon Deletion	Mice

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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Gene: Atp13a3 MGI:2685387

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Combined SHIRPA and Dysmorphology

Eye Morphology

Electroretinography 3

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Atp13a3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data