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Gene: Cebpa MGI:99480

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

CCAAT/enhancer binding protein alpha

Synonyms:

Cebp, C/ebpalpha, C/EBP alpha

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Cebpa 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 Cebpa (1 diseases)
Human diseases predicted to be associated with Cebpa (2007 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukemia, Acute Myeloid		Acute myeloid leukemia	OMIM:601626

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

Disease	Matching phenotypes	Source
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Lipoma	OMIM:151800
Lipomatosis, Familial Multiple	Multiple lipomas	OMIM:151900
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Combined Low Ldl And Fibrinogen	Elevated circulating aspartate aminotransferase concentration	OMIM:620364
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia, Myelodysplasia	OMIM:162830
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane...	OMIM:226990
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Hypertyrosinemia, Elevated hepatic transaminase, Hypoglyc...	OMIM:617156
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke...	ORPHA:157991
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:86841
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto...	OMIM:616871
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Elevated g...	OMIM:278000
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue	ORPHA:71529
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Immunodeficiency 50	Lymphopenia, Eczema, Neutropenia	OMIM:300988
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati...	ORPHA:2688
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis...	ORPHA:98850
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Lymphad...	OMIM:308240
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia	OMIM:616022
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Recurre...	OMIM:618986
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Neutropenia, Chronic Familial	Periodontitis, Neutropenia	OMIM:162700
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Babesiosis	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia...	ORPHA:108
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder	OMIM:131440
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product...	ORPHA:98826
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Vomiting, Hepatic failure, Hepatic steatosis	OMIM:617872
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia	OMIM:266130
Wolman Disease	Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma...	ORPHA:75233
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Abdominal pain, Pneumonia,...	ORPHA:486
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ...	ORPHA:231222
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone ...	ORPHA:98827
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Essential Fructosuria	Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl...	ORPHA:2056
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasem...	OMIM:619386
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac...	ORPHA:398124
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom...	OMIM:150550
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m...	OMIM:613501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia	OMIM:614743
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure	ORPHA:75234
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Conjunctivitis, Chronic oral candid...	OMIM:616740
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Hemochromatosis, Type 3	Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Increased circu...	OMIM:619644
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma	OMIM:247640
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Short Stature Due To Ghsr Deficiency	Short stature, Abnormality of body weight, Hypoglycemia, Growth delay, Delayed puberty, Decreased...	ORPHA:314811
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l...	ORPHA:3226
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis	OMIM:246650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure	OMIM:143500
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Abdomina...	ORPHA:98849
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype...	OMIM:615387
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Leukopenia, Ne...	OMIM:229050
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Decreased liver function, Thrombocytopenia	ORPHA:67048
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Int...	ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties...	OMIM:613489
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Hashimoto thyroiditis, Jaundice, Fulm...	OMIM:618549
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Chronic diarrhea, Ileus, H...	OMIM:304790
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Feeding difficulties in infancy, Hypoglycemia, Anemia	OMIM:610090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, ...	ORPHA:79312
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hepatic failure, Cholelithiasis, Eczema	OMIM:177000
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Feeding difficulties in infancy...	OMIM:618752
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung mor...	ORPHA:50251
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C...	ORPHA:292
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl...	OMIM:614742
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepato...	ORPHA:169160
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Abno...	ORPHA:90117
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f...	ORPHA:280356
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Di...	OMIM:235555
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi...	OMIM:276700
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide...	OMIM:615238
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha...	ORPHA:79477
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Neutropenia, Recurrent otitis media, Chronic sin...	OMIM:613502
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Reduced natural killer cell count, Neutropenia	OMIM:615214
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De...	OMIM:617021
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic...	ORPHA:263501
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ...	OMIM:613561
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Feeding difficult...	OMIM:251880
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Recurrent sinusitis, Transient neutropenia, Absent circulating B cells	OMIM:619707
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Whim Syndrome 1	Bronchiectasis, Verrucae, Neutropenia	OMIM:193670
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis...	OMIM:618963
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Glycine Encephalopathy 1	Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Hyperglycinuria,...	OMIM:605899
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t...	OMIM:619281
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocy...	OMIM:619164
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom...	ORPHA:369
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc...	OMIM:619151
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias	OMIM:619096
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Lymphoma, Recurrent pneumonia,...	ORPHA:47612
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce...	ORPHA:2394
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cough, Splenomegaly, Flexio...	ORPHA:77260
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decreased acid sphingomyeli...	OMIM:607616
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Letterer-Siwe Disease	Seborrheic dermatitis, Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, S...	OMIM:246400
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Hepatitis, Bronchiectas...	ORPHA:33110
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Recurrent pneumonia, Anemia, Recurrent otiti...	OMIM:617475
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno...	OMIM:259710
Short Stature Due To Partial Ghr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314802
Hemochromatosis, Neonatal	Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat...	OMIM:231100
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, T...	OMIM:611126
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Hyaline membranes, Small for gestational age, Lethargy	OMIM:617065
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M...	ORPHA:79456
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Poor appetite, Feeding difficulties in infancy,...	OMIM:606054
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Anorexia, Lymphadenopathy	ORPHA:52416
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Respiratory insufficiency, Lethargy, Death in childhood	OMIM:618224
Shigellosis	Anorexia, Uveitis, Bloody diarrhea, Paralytic ileus, Vomiting, Conjunctivitis, Nausea, Acute coli...	ORPHA:810
Recurrent Respiratory Papillomatosis	Respiratory distress, Failure to thrive, Atelectasis, Abnormal lung morphology, Recurrent upper r...	ORPHA:60032
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lympha...	OMIM:616005
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Absence of lymph node germinal center, ...	OMIM:308230
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Increased hepatic glycogen content	OMIM:261750
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ...	OMIM:607594
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Abnormal pulmonary interstiti...	OMIM:619013
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic...	OMIM:615630
Primary Erythromelalgia	Leukemia	ORPHA:90026
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja...	ORPHA:540
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Episodic tach...	OMIM:615160
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa...	ORPHA:79085
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Obesity, Growth delay, Fasting hypoglycemia, Abnormal circulating selenium concent...	ORPHA:171706
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypoch...	ORPHA:514
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di...	OMIM:230400
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf...	ORPHA:2088
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Pituitary Hormone Deficiency, Combined, 4	Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia	OMIM:262700
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Failure to thrive in infancy, Hype...	OMIM:619064
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Death i...	OMIM:602579
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P...	ORPHA:2089
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count, Chronic diarrhea, Chronic oral candidiasis	OMIM:615592
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Hypoglycemia, Decreased liver function, Anemia	OMIM:618835
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, T...	ORPHA:36238
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Hypoglycemia, Decreased liver function, Anemia	OMIM:618839
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di...	ORPHA:1667
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:617049
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E...	ORPHA:79230
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia...	ORPHA:228426
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res...	OMIM:619057
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia	OMIM:254120
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi...	ORPHA:2686
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr...	ORPHA:293964
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Chronic ...	ORPHA:169154
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent skin infections, Recurrent p...	OMIM:614868
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Abnormal circulating lipid concentration, Hepatic steatosis	OMIM:608709
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Hypoglycemia, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Hypoglycemia, Elevated circulating aspartate ami...	OMIM:245400
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop...	OMIM:618852
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm...	OMIM:269840
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Short stature, Postnatal growth retardation, Sple...	OMIM:609981
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Hypoglycemia, Leukopenia, Tubulointerstitial nephritis, Vomiting, Neutropenia, Panc...	OMIM:251000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Immunodeficiency 27A	Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly, Weight loss, Hepatosplenomegaly,...	OMIM:209950
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa...	ORPHA:811
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina...	ORPHA:319218
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic...	ORPHA:35858
Alpha-Heavy Chain Disease	Hepatomegaly, Abdominal pain, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia	OMIM:246470
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu...	ORPHA:39812
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Familial Isolated Dilated Cardiomyopathy	Lipoatrophy, Abnormality of neutrophils	ORPHA:154
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Glycogen Storage Disease Iv	Portal hypertension, Hepatosplenomegaly, Ascites, Cirrhosis, Hepatic failure	OMIM:232500
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Hypoa...	OMIM:608104
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H...	ORPHA:79319
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Chronic noninfectious lymphaden...	ORPHA:100075
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive, Pallor, Anorexia	ORPHA:79283
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir...	ORPHA:2590
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm...	OMIM:601399
Congenital Analbuminemia	Small for gestational age, Miscarriage, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-g...	ORPHA:86816
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Death in childhood, Joint contracture, Failure to...	OMIM:616081
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnorm...	ORPHA:54251
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Hypogonadism, Bro...	OMIM:615993
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Anemia, Neutropenia	OMIM:617056
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,...	ORPHA:3261
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl...	ORPHA:567983
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Respiratory insufficiency, Abnormal c...	ORPHA:6
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Colitis, Hemophagocytosis, R...	OMIM:613101
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure	ORPHA:132
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi...	ORPHA:37042
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r...	ORPHA:435660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res...	OMIM:615381
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dyspnea, ...	ORPHA:99931
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Small for gestational age, Elevated circulating creatine kinase concentration, ...	OMIM:619055
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo...	ORPHA:251380
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Glo...	ORPHA:2137
Acquired Purpura Fulminans	Neoplasm, Hepatic failure, Skin rash, Thrombocytopenia	ORPHA:49566
Hawkinsinuria	Hypertyrosinemia, Restlessness, Failure to thrive	OMIM:140350
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia	OMIM:615010
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Ankle flexion co...	OMIM:618120
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ...	ORPHA:99867
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy, Dysphagia	ORPHA:1935
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Decreased liver function, Neonatal death	OMIM:614870
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia, Type II diab...	ORPHA:99812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l...	ORPHA:367
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole...	OMIM:616222
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia	OMIM:606528
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti...	ORPHA:101330
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619705
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia...	OMIM:260400
Autoinflammation With Infantile Enterocolitis	Short stature, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage...	OMIM:616050
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Recurrent respiratory infections, Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Apnea, Respiratory insufficiency, Growth delay, Dysphagia, Lethargy, Failure to thrive	OMIM:618226
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Protr...	OMIM:209920
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Decreased serum leptin	OMIM:614962
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Lethargy, Failure t...	OMIM:237310
Necrotizing Enterocolitis	Abdominal distention, Peritonitis, Leukocytosis, Diarrhea, Bloody diarrhea, Vomiting, Abnormal gl...	ORPHA:391673
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating enzyme concentration or activity, Abdominal pain, Abnormal erythrocyte enzym...	ORPHA:100924
Erythroderma, Lethal Congenital	Death in infancy, Failure to thrive, Hypoalbuminemia	OMIM:227090
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Death in infancy, Hepatomegaly, Elevated circulating creatine kinase con...	OMIM:201475
Legionnaires Disease	Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, My...	ORPHA:549
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,...	OMIM:301081
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity	OMIM:605724
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity	ORPHA:254531
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Anorexi...	ORPHA:33226
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Fai...	ORPHA:79320
Nuchal Bleb, Familial	Stillbirth	OMIM:257350
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial m...	OMIM:620233
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Avian Influenza	Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Elevated circulating...	ORPHA:454836
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Congenital Lethal Erythroderma	Death in infancy, Failure to thrive, Hypoalbuminemia, Respiratory insufficiency	ORPHA:1954
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien...	OMIM:269200
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Redundant neck skin, Small for gestational age, Neonatal death, Le...	OMIM:610498
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Combined Oxidative Phosphorylation Deficiency 30	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616974
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Respiratory insufficiency, Lethargy, Failure to thrive	ORPHA:28
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Abnormality of the tonsils, Abnormal...	ORPHA:229717
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ...	ORPHA:70588
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Obesity Due To Sim1 Deficiency	Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di...	ORPHA:369873
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema...	OMIM:613490
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Galactokinase Deficiency	Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole...	ORPHA:79237
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat...	OMIM:618805
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death...	OMIM:300717
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non...	OMIM:603909
Galloway-Mowat Syndrome 6	Short stature, Growth delay, Hypoalbuminemia, Decreased body weight, Intrauterine growth retardat...	OMIM:618347
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema, Hepatic steatosis, Short stature, Por...	OMIM:613658
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Diarrhea, Leukopenia, Chronic otitis media, Aplasia/Hypopl...	ORPHA:33355
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Epi...	ORPHA:26793
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Feeding diffic...	ORPHA:541423
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat...	ORPHA:2584
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties	ORPHA:79238
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropenia, Decre...	OMIM:251110
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia	OMIM:618406
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia	OMIM:615026
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Hematological neoplasm, Keratitis, Hepatitis, ...	ORPHA:1163
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227990
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit...	OMIM:611762
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Neutropenia, Bronchiectasis, Feeding difficulties, Aspiration pneumonia, Dysphagia	OMIM:618253
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Congenital Myopathy 21 With Early Respiratory Failure	Inguinal hernia, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intra...	OMIM:620326
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting	OMIM:230350
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Mehmo Syndrome	Small for gestational age, Hypoglycemia, Aggressive behavior, Obesity, Birth length less than 3rd...	OMIM:300148
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Respiratory failure, Hypo...	OMIM:618329
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti...	OMIM:615952
Wilson Disease	Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hemolytic anemia, Hepatomegal...	OMIM:277900
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Dysphagi...	OMIM:619751
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Feeding difficulties, Constipation, Gastroesophageal reflux, Neutropenia	OMIM:620012
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Increased circulat...	ORPHA:99901
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Small for gestational age, Hypoglycemia, Hyperammonemia, Intrauterine growth ret...	OMIM:614702
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Feeding difficulties, Bone marrow hypocellularity, Infection assoc...	ORPHA:445038
Tyrosinemia, Type Iii	Hypertyrosinemia, Elevated hepatic transaminase	OMIM:276710
Kasabach-Merritt Syndrome	Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Abnormal lymphatic vesse...	ORPHA:2330
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Feeding difficulties, Normochromic anemia, Gastroesophage...	OMIM:614857
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Agit...	ORPHA:927
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Gastrointestinal dysmotility, Enterocolitis, ...	ORPHA:90051
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu...	ORPHA:289504
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Atopic dermatitis, Chronic mucocu...	OMIM:619752
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye...	ORPHA:48104
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Lethargy, Hyperactivity, Failure to thrive	OMIM:274270
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe...	OMIM:615872
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Hepatic failure,...	OMIM:608013
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Death in infancy, Splenomegaly, Hyperprolinemia, Agitation, Hyperalanin...	OMIM:619046
Immunodeficiency 56	Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis ...	OMIM:615207
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Cirr...	ORPHA:528
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardation, Decreased b...	ORPHA:231140
Hypertryptophanemia	Camptodactyly of finger, Aggressive behavior, Hypertryptophanemia, Hypersexuality, Depression, Tr...	OMIM:600627
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Lethargy, He...	ORPHA:156
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Focal Segmental Glomerulosclerosis 1	Pleural effusion, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Glycosuria, Abnormal thymus morphol...	ORPHA:589
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Elevated circulating creatine kinase concentration, Knee flexion contracture, Macrovesicul...	OMIM:608836
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysphagia, Intrauterine growth retarda...	OMIM:618958
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Acute leukemia	ORPHA:2770
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu...	ORPHA:3260
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227982
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Dysphagia, Hepatic failure, Episodic vomiting, Anemia	OMIM:607426
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture, Dysphagia	OMIM:615348
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Abdominal...	ORPHA:465508
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent...	OMIM:620282
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neu...	OMIM:232220
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties	OMIM:609060
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, Neutropenia, Chro...	ORPHA:443811
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Typhoid	Hepatomegaly, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Lethargy	ORPHA:99745
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, L...	OMIM:602390
Combined Saposin Deficiency	Splenomegaly, Feeding difficulties, Hepatomegaly	OMIM:611721
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Insulin resistance, Lymphoma...	ORPHA:79086
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Feeding difficulties, Abnormality of the liver, Increased mean c...	ORPHA:2169
Primary Ciliary Dyskinesia	Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polypo...	ORPHA:244
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Abdominal pain, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutro...	ORPHA:520
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Lethal Infantile Mitochondrial Myopathy	Neonatal respiratory distress, Lethargy, Fatal liver failure in infancy	ORPHA:254857
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:1832
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Dy...	OMIM:616867
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feed...	OMIM:610333
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Thrombocytopenia	OMIM:615085
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Feeding difficultie...	OMIM:613385
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of t...	ORPHA:391487
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diar...	OMIM:618495
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Mediast...	ORPHA:91138
Galactose Mutarotase Deficiency	Hepatomegaly, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or...	ORPHA:570422
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Apnea, Hypoglycemia, Acute hepatic steatosis, Lethargy, Failure to thrive	OMIM:210200
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Epididymitis, Bro...	OMIM:300755
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Storage Pool Platelet Disease	Myelodysplasia, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure	ORPHA:890
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Congenital Factor Xiii Deficiency	Myeloid leukemia, Hepatic failure, Inflammation of the large intestine	ORPHA:331
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto...	ORPHA:1959
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Secretory diarrhea, Elevated gamma-glutamyltransferase level, Hepatic steatos...	OMIM:619573
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive	ORPHA:178029
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep...	ORPHA:36234
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Diarrhea, Lymphad...	OMIM:617827
Hawkinsinuria	Abnormal circulating tyrosine concentration, Failure to thrive	ORPHA:2118
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm...	ORPHA:729
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Hematologic...	ORPHA:228119
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardati...	ORPHA:73272
Coproporphyria, Hereditary	Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Vomiting, Constipation	OMIM:121300
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur...	OMIM:616733
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure, Dysphagia	OMIM:225753
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice	OMIM:614972
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt...	ORPHA:1775
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Respiratory tract infection, Peritonitis, Growth delay,...	ORPHA:567548
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum...	OMIM:608647
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne...	OMIM:300908
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, Neonatal d...	OMIM:611890
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge...	OMIM:608232
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Anemia, Cardiomegaly	OMIM:618838
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, P...	ORPHA:1302
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Hepatomegaly, Elevated hepatic transaminase, Microvesicu...	OMIM:613070
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Short stature, Anorexia, Pallor, Lethargy	ORPHA:49827
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Chronic diarrhea, Leukopenia, Hepatic fibrosis, Bone marrow hypoce...	OMIM:613989
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E...	ORPHA:100078
2P21 Microdeletion Syndrome	Hypoglycemia, Cystinuria, Growth delay, Hypocalcemia, Failure to thrive	ORPHA:163693
Ataxia-Telangiectasia	Sinusitis, Diabetes mellitus, Lymphoma, Chronic diarrhea, Bronchiectasis, Hodgkin lymphoma, Acute...	OMIM:208900
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Pearson Syndrome	Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Chronic ...	ORPHA:699
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Vomiting	OMIM:616483
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive	ORPHA:26
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Pontocerebellar Hypoplasia, Type 6	Apnea, Elbow contracture, Death in childhood, Lethargy, Failure to thrive	OMIM:611523
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Obesity	ORPHA:77296
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin rash, Megaloblastic anem...	OMIM:277380
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia	ORPHA:281090
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Growth delay, Co...	ORPHA:2414
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Th...	OMIM:251290
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
Tyrosinemia, Type Ii	Growth delay, Hypertyrosinemia	OMIM:276600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Lethargy, Hyperlysinemia	OMIM:238750
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi...	OMIM:614299
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Hypoglycemia, Eosinophilia, Anorexia, ...	ORPHA:199299
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231147
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior...	OMIM:300438
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor...	ORPHA:36426
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Elevated circulating acylcarn...	ORPHA:159
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Perching Syndrome	Respiratory distress, Joint contracture, Camptodactyly, Dysphagia	OMIM:617055
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropenia, Decre...	OMIM:251100
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature	OMIM:600561
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Vomiting, Prolonged neonatal jaundice	OMIM:618892
Complement Component 4B Deficiency	Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o...	OMIM:614379
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell...	OMIM:618398
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Alpha-aminoadipic aciduria, Hyperglycinuria, Respiratory insufficiency, Elevate...	OMIM:605711
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ...	OMIM:608233
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Turcot Syndrome With Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi...	ORPHA:99818
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Hypoglycemia	OMIM:610006
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas...	OMIM:615363
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Acute lymphoblastic leukemia, Type II diab...	OMIM:606593
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Pulmonary ...	OMIM:231680
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity	ORPHA:96184
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop...	OMIM:617052
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Vomiting, Anemia, Hypoglycemia	OMIM:246450
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Lethargy, Hepatic ste...	OMIM:201450
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Recurrent bacterial s...	ORPHA:167
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Lung abscess, Liver abscess, Dyspnea, Weight loss, Pleural empyema...	ORPHA:67
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F...	ORPHA:264675
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency, Increased connective tissue	ORPHA:238329
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Recurrent pneumonia, Neutropenia, Feeding difficulties, Leukopenia, Tube f...	OMIM:616271
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis	ORPHA:79087
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Dyspnea, Nonproductive cough, Pulmon...	ORPHA:85443
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Lethargy, Failure to thrive, Homo...	OMIM:236270
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple...	ORPHA:444490
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Elevated hepatic transaminase, Recurrent pharyngi...	ORPHA:79324
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Abdominal pain, Leukocytosis, Jaundice, Diarrhea, An...	ORPHA:91547
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor...	ORPHA:537
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Feeding difficulties, Reduced number of intrahepatic bile ducts,...	ORPHA:79284
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Macrovesicular hepatic steat...	OMIM:617303
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic ...	ORPHA:2348
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Vomiting, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Anemia	ORPHA:436271
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Apneic episodes precipitated by illness, fat...	OMIM:312170
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Feeding difficulties, Neutropenia	OMIM:617050
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa...	ORPHA:1414
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Dia...	ORPHA:85450
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Chronic diarrhea, Th...	ORPHA:39041
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Lower-limb joint contracture	OMIM:613710
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Respiratory ins...	OMIM:617397
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Congenital Macroglossia	Neurofibroma, Abnormal hepatic glycogen storage	ORPHA:2430
Scedosporiosis	Bronchial breath sound, Diabetes mellitus, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory...	ORPHA:449280
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Severe short stature, Cachexia, Absence of subcutaneous fat, Corne...	OMIM:610965
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Lymphoma, Recurrent pneumonia, Bron...	OMIM:240500
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Abdominal dist...	OMIM:235255
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Cough, Ate...	ORPHA:2357
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Niemann-Pick Disease, Type C2	Hepatomegaly, Death in infancy, Neonatal respiratory distress, Splenomegaly, Jaundice, Dysphagia,...	OMIM:607625
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Hypoglycemia, Eczema, Gastrointestinal dys...	ORPHA:506
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Asthma, Dysphagia, Weig...	ORPHA:2070
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vomiting, Intractabl...	OMIM:619381
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Respiratory failure, Stillbirth, Decreased liver function, Death ...	OMIM:614922
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali...	ORPHA:254864
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy, Apnea, Death in childhood	OMIM:618225
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Lethargy, Hepatomegaly, Abnormal circulating serine conc...	ORPHA:470
Mirage Syndrome	Hypoglycemia, Myelodysplasia, Chronic diarrhea, Anemia, Leukopenia, Gastroesophageal reflux, Aspi...	OMIM:617053
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia	OMIM:231000
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia...	OMIM:617941
Pyruvate Carboxylase Deficiency	Anorexia, Tachypnea, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Apathy,...	ORPHA:3008
Bloom Syndrome	Poor appetite, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, ...	ORPHA:125
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Severe short stature, Respiratory insufficiency, Knee flexion contracture, Respi...	OMIM:313420
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Death in infancy, Hepatic steatosis, Hepatomegaly, Abnormal subcut...	OMIM:212065
Cinca Syndrome	Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrob...	ORPHA:1451
Temple Syndrome	Small for gestational age, Short stature, Postnatal growth retardation, Obesity, Recurrent hypogl...	ORPHA:254516
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Bronchiectasis, Decreased circulating beta-2-micr...	OMIM:241600
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Decreased liver function, Dysphagia, Failure to thrive, Hepatic steatosis	ORPHA:70472
Citrullinemia Type I	Tachypnea, Hyperammonemia, Hepatic failure, Elevated plasma citrulline, Lethargy, Failure to thrive	ORPHA:247525
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Apnea, Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating f...	ORPHA:79644
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Agammaglobulinemia 1, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Rectal abscess, B lymphocytopenia, Conjunc...	OMIM:601495
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Failure to thrive, Apnea, Respiratory insufficiency	OMIM:618228
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, Eczema, Allerg...	OMIM:615816
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, ...	OMIM:618011
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Rothmund-Thomson Syndrome	Aplastic anemia, Skin rash, Myelodysplasia, Nasogastric tube feeding in infancy, Diarrhea, Squamo...	ORPHA:2909
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Visceral angiomatosis, Caver...	ORPHA:774
Alg1-Cdg	Respiratory failure, Hypoalbuminemia, Decreased liver function	ORPHA:79327
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul...	OMIM:615838
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Jaundice, Hyperammonemia, Hype...	OMIM:615751
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocy...	ORPHA:508542
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransfer...	ORPHA:53035
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hyperalaninemia, Elevated circulating dodecanoylcarnitine concentration, Death in infancy, Increa...	OMIM:619355
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Microvesicular...	OMIM:619418
Cold Agglutinin Disease	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Hypoglycemia, Chronic diarrhea, Herpes simplex encephali...	OMIM:233600
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea...	OMIM:618394
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Prostatitis, Pyoderma, Conju...	OMIM:307200
Blue Diaper Syndrome	Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In...	ORPHA:94086
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop...	OMIM:613179
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Death in childhood	OMIM:618683
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Gaba-Transaminase Deficiency	Lethargy, Death in childhood	OMIM:613163
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Odontoma, Myocarditis, Hepatic failure, Dysphagia	ORPHA:2724
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Pulmonary lymphang...	ORPHA:1655
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy...	ORPHA:1454
Nephrotic Syndrome, Type 1	Neonatal respiratory distress, Small for gestational age, Hyperlipidemia, Growth delay, Hypoalbum...	OMIM:256300
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,...	ORPHA:288
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Anorexia, Pu...	ORPHA:50918
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Decreased acid ceramidase activity	OMIM:228000
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Atelectasis, Achilles tendon contracture, Dec...	ORPHA:254361
Caspase 8 Deficiency	Eczema, Pneumonia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:607271
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Feeding difficulties, Neoplasm of the skin, Neutropenia, Lymphopenia	OMIM:616395
Pyridoxine-Dependent Epilepsy	Restlessness, Neonatal respiratory distress, Hypoglycemia, Neonatal asphyxia	ORPHA:3006
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphadenopathy, Arthritis, Infe...	ORPHA:42642
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Cryptorchidism, Respiratory insufficiency, Respiratory failure, Abno...	ORPHA:370968
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia	ORPHA:290
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Agitation, Hyperuri...	ORPHA:134
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
14Q11.2 Microduplication Syndrome	Hypothyroidism, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Minimal change glomerulonephritis, Thrombocyt...	ORPHA:1830
Donohue Syndrome	Postnatal growth retardation, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosi...	OMIM:246200
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure	OMIM:618567
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Lethargy	ORPHA:71277
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Idiopathic Congenital Hypothyroidism	Lethargy, Umbilical hernia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, I...	ORPHA:2552
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pl...	ORPHA:90362
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Cyclic Vomiting Syndrome	Anorexia, Growth delay, Pallor, Attention deficit hyperactivity disorder, Lethargy	OMIM:500007
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Apnea, ...	ORPHA:20
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Abnormal pleura morphology, Nodular regenerat...	ORPHA:210136
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Maternal Uniparental Disomy Of Chromosome X	Hepatic failure	ORPHA:261519
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Depression, Bradykinesia, Apathy	ORPHA:240085
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Respiratory insufficiency, Cholestasis, Respiratory failure, Hypoca...	ORPHA:746
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Splenic...	OMIM:603903
Glutaric Acidemia Type 3	Impulsivity, Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentr...	ORPHA:35706
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ...	OMIM:301072
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Polydipsia, Weight loss	ORPHA:30925
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ...	OMIM:612562
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Death in infancy, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Gro...	ORPHA:1194
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature, Decreased ...	OMIM:300580
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Glycosuria, Increased hepatocellular lipid droplets, Anemia	OMIM:220110
Crimean-Congo Hemorrhagic Fever	Anorexia, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophili...	ORPHA:99827
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Dysphagia	OMIM:618637
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Growth delay, Hypoalbuminemia, Recurrent lower respiratory trac...	OMIM:226300
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Short stature, Hypogonadism, Lethargy	ORPHA:254913
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia	OMIM:617119
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Neoplasm of the ...	ORPHA:142
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph...	ORPHA:51636
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Severe Canavan Disease	Lethargy, Oral-pharyngeal dysphagia	ORPHA:314911
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Myelodysplasia, Diarrhea, Functional abnormality of the gastrointestinal tract, ...	ORPHA:221008
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small for gestational age, Rhizomelia, Hypoglycemia, Recurrent upper respir...	OMIM:607143
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia	OMIM:245590
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Weight loss...	OMIM:619487
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Cholera	Hyponatremia, Miscarriage, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Hypokalemia...	ORPHA:173
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Hypoglycemia, Elevated circulating creatine kinase concentrati...	OMIM:300559
Pyruvate Dehydrogenase Deficiency	Dyspnea, Tachypnea, Growth delay, Multiple lipomas, Intrauterine growth retardation, Lethargy	ORPHA:765
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Anorexia, Hepatosplenomegaly, Pallor, Lethargy, Failure to thrive	OMIM:611590
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lympha...	OMIM:617591
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Bloom Syndrome	Elevated hemoglobin A1c, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Type II diabetes mell...	OMIM:210900
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Respiratory failure	OMIM:604801
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ch...	OMIM:615846
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow...	OMIM:222748
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure	ORPHA:254881
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Short stature, Camptodactyly of finger, Hypoglycemia	ORPHA:48431
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia...	OMIM:612387
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Primary Biliary Cholangitis	Portal hypertension, Abdominal distention, Jaundice, Hepatic failure, Hepatitis, Biliary cirrhosi...	ORPHA:186
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Reticulocyto...	ORPHA:124
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Elevat...	OMIM:619991
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased body weight, Decreased serum iron, Flexion contracture, Dysphagia, Depression, Growth d...	ORPHA:89842
Genetic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Peritonitis, Hypoalbuminemia	ORPHA:656
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, An...	ORPHA:319251
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Myelodysplasia, Diarrhea, Lymphoma, Functional abnormality of the gastrointestin...	ORPHA:221016
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Death in infancy, Lethargy, Inspiratory stridor, Irregular re...	OMIM:604377
Schaaf-Yang Syndrome	Impulsivity, Flexion contracture, Hypogonadism, Skin-picking, Camptodactyly, Arthrogryposis multi...	OMIM:615547
Fumarase Deficiency	Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Cutan...	OMIM:606812
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Small for gestational age, Short stature, Hypoglycemia	ORPHA:231137
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulati...	OMIM:620300
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Cohen Syndrome	Feeding difficulties in infancy, Leukopenia, Neutropenia	OMIM:216550
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hep...	ORPHA:79259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato...	ORPHA:308552
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Feeding difficulties	OMIM:613224
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ...	ORPHA:85212
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Respiratory distr...	OMIM:615042
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ...	OMIM:610199
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Abdo...	ORPHA:342
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody dia...	ORPHA:436252
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha...	ORPHA:399
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia, Lethargy, F...	OMIM:210210
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h...	OMIM:620011
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Elevated c...	OMIM:601847
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Refractory Celiac Disease	Elevated hepatic transaminase, Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypo...	ORPHA:398063
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Hypo...	OMIM:616026
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Compulsive behavi...	OMIM:261600
Leigh Syndrome	Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Failure to thrive, Abnor...	OMIM:256000
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thromboc...	ORPHA:1855
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Myopathy And Diabetes Mellitus	Type I diabetes mellitus, Achilles tendon contracture, Respiratory distress	ORPHA:2596
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Short stature, Impulsivity, Cryptorchidism, Flexion contracture...	ORPHA:398069
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin...	ORPHA:1572
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Small for gestational age, Hypoglycemia, Proportionate short stature, Dorsocer...	ORPHA:391408
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary...	ORPHA:398079
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Respiratory insufficienc...	ORPHA:2609
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia, Feeding difficulties	OMIM:619951
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Apnea, Hypoglycemia, Fl...	OMIM:609069
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver	ORPHA:205
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi...	OMIM:606763
Holocarboxylase Synthetase Deficiency	Respiratory distress, Anorexia, Tachypnea, Weight loss, Growth delay, Lethargy	ORPHA:79242
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice	ORPHA:199296
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Protuberant abdomen, Neutropenia, Lymphopenia, ...	OMIM:242900
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Spleno...	OMIM:608779
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Perianal erythema, Short stature, Splenomegaly, Hypogonadism, Pe...	OMIM:201100
Fanconi Anemia, Complementation Group D2	Pancytopenia, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropen...	OMIM:227646
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Increased connective tissue, Cryptorchidism, Flexion...	ORPHA:98905
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Hyperactivity, Neonatal respiratory distr...	ORPHA:209905
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Gastroesophageal reflux, Decreased liver function	OMIM:614507
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Dysphagia, Hyperphenylalaninemia	OMIM:233910
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel...	OMIM:300219
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, I...	OMIM:601775
Ogden Syndrome	Inguinal hernia, Postnatal growth retardation, Cryptorchidism, Pulmonary artery stenosis, Cutis l...	ORPHA:276432
Intermediate Nemaline Myopathy	Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Dysphagia	ORPHA:171433
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Feeding difficulties, Hypoglycemia, Neutropenia	OMIM:618005
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphoma, Lymphadenopathy, Neopla...	ORPHA:391
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Kawasaki Disease	Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Cervical lymphadenopat...	ORPHA:2331
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Hypoglycemia, Dysmenorrhea, Small for gestational age, Postnatal growth retardat...	ORPHA:397590
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Splenogonadal Fusion With Limb Defects And Micrognathia	Stillbirth	OMIM:183300
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Vomiting, Hyperglycemia	OMIM:615453
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti...	ORPHA:331235
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Cystinuria, Hypocalcemia, Failure to thrive, Polyphagia, Neonatal h...	OMIM:606407
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive...	OMIM:237300
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Arthrogryposis multiplex congenita, Respira...	OMIM:615330
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite, Bowel urgency, Pneu...	ORPHA:97287
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Respiratory insufficiency, Pancreatitis, Lethargy	ORPHA:27
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Polyphagia	ORPHA:177910
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation	OMIM:618232
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Short stature, Abnormal pulmonary interst...	OMIM:617180
Familial Thyroid Dyshormonogenesis	Umbilical hernia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobulin level...	ORPHA:95716
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Diaphanospondylodysostosis	Respiratory distress, Inguinal hernia, Disproportionate short-trunk short stature, Respiratory in...	OMIM:608022
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Gout, Inflammat...	OMIM:232240
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy, Dry skin, Umbilical hernia	OMIM:274400
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Neutropenia, Feeding difficulties, Dysphagia, Neonatal death, Poor suck, Neonatal hypog...	OMIM:617248
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Episcleritis, Keratitis, Spleno...	ORPHA:525731
Timothy Syndrome	Hypoglycemia, Pneumonia, Bronchitis, Hypocalcemia, Pulmonary arterial hypertension	OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Decreased liver function	OMIM:616299
Trichohepatoenteric Syndrome 2	Hepatomegaly, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato...	ORPHA:14
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a...	ORPHA:77297
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Anorexia, Weight loss	ORPHA:2494
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Reactive hypogl...	ORPHA:469
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Respiratory insufficiency	OMIM:618241
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
D-Glyceric Aciduria	Neonatal respiratory distress, Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Growth...	OMIM:220120
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea	ORPHA:2759
Medullary Thyroid Carcinoma	Neoplasm of the lung, Weight loss, Dysphagia, Abnormal liver parenchyma morphology	ORPHA:1332
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter	ORPHA:411515
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Respiratory insufficiency, Respiratory fai...	OMIM:618186
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrhea, Chronic mucocuta...	OMIM:240300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Camptodactyly of finger, Tachypnea, Respiratory failure, Intrauterine ...	OMIM:604320
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia, Feeding difficulties	OMIM:617710
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Respiratory failure, Death in infancy, Intrauterine growth retardation	OMIM:610678
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarr...	OMIM:260920
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis...	ORPHA:77259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, Ta...	OMIM:618278
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Anorexia, Cough	ORPHA:99825
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Uveitis, Arthritis, Conjunct...	ORPHA:575
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma	ORPHA:210548
Severe Congenital Nemaline Myopathy	Increased connective tissue, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Dysp...	ORPHA:171430
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hepatic calcification, Episodic abdominal pain, Tubulointerstitial nephritis, Reduc...	ORPHA:157
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Abdominal pain, Spl...	OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Death in infancy, Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical he...	OMIM:620275
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Rhinitis, Vomiting, Anemia	ORPHA:230
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory failure, Respiratory distress, Dysphagia	OMIM:620166
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity	ORPHA:819
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Hypoalbuminemia, Ca...	OMIM:235510
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Renal Hypoplasia, Bilateral	Hyponatremia, Neonatal respiratory distress, Small for gestational age, Short stature, Hyperkalem...	ORPHA:97362
Nocardiosis	Respiratory distress, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ...	ORPHA:31204
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia	OMIM:222730
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Diabetes mellitus, Bipolar affective disorder, Elevated circulatin...	ORPHA:254892
Complete Atrioventricular Septal Defect	Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevat...	ORPHA:1329
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Mild postnatal growth retardation, Foot joint...	ORPHA:456312
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Spl...	OMIM:608799
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections...	ORPHA:70
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Leukocytosi...	OMIM:615688
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Gastroesophageal reflux, Dysphagia, Neutropenia	OMIM:615471
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Poor suck	OMIM:614886
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni...	OMIM:620249
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hepatomegaly, Hypoglycemia, Jaundice, Bic...	OMIM:229600
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, ...	ORPHA:1546
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Recurrent respiratory infections, Respiratory distress, Hepatomega...	ORPHA:329178
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function	ORPHA:512260
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Maculopapular exanthema, Eosinophilia, Portal hypertension, Parot...	ORPHA:797
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Leukocytosis, ...	OMIM:615895
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive	OMIM:614736
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Respiratory tract infection, Atelectasis, Respirat...	ORPHA:365
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Facial erythema	OMIM:620321
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Redundant skin, Disproport...	OMIM:616482
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria, Failure to thrive	OMIM:250620
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ...	ORPHA:52430
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea	OMIM:603896
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Neuroendocrine neoplasm	ORPHA:404443
Bachmann-Bupp Syndrome	Hypoglycemia, Aggressive behavior, Large for gestational age, Attention deficit hyperactivity dis...	OMIM:619075
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Respiratory failure, Pulmonary hypoplasia, Respiratory distress	OMIM:617895
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Depression, Growth delay, Umbilical hernia, Attention deficit hyperactivity di...	ORPHA:90674
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea...	OMIM:269700
Smith-Kingsmore Syndrome	Hypoglycemia, Thrombocytopenia, Feeding difficulties	OMIM:616638
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Death in infancy, Short stature, Mesomeli...	OMIM:184260
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Abdominal pain, Leukocytosis, Chronic diarrhea, Diarrhea, Lymphadenopath...	OMIM:617099
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	ORPHA:646
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Megaloblastic anemia, Feeding difficulties in infancy, Ne...	OMIM:277400
Benign Samaritan Congenital Myopathy	Lethargy, Abnormal respiratory system physiology	ORPHA:324581
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Malonyl-Coa Decarboxylase Deficiency	Neonatal respiratory distress, Short stature, Hypoglycemia	OMIM:248360
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Failure to thrive, Congenital laryngeal ...	ORPHA:2254
Roifman Syndrome	Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Sitosterolemia 1	Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stom...	OMIM:210250
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl...	OMIM:619334
Dengue Fever	Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Lethargy, Petechiae	ORPHA:99828
Hypotonia-Cystinuria Syndrome	Polyphagia	ORPHA:163690
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Depression, Respiratory failure, Dysphagia	OMIM:613954
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Esophageal Atresia	Omphalocele, Recurrent respiratory infections, Respiratory distress, Small for gestational age, F...	ORPHA:1199
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis	OMIM:612852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Achilles tendon contracture, Restrictive ventilatory defect, Respiratory failu...	OMIM:606612
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level, Abse...	ORPHA:785
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Tachypnea, Pallor, Cough, Lethargy, Failure to thrive, Pulmonary edema	ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypoglycemia, Feeding difficulties in infancy, Splenomegaly, Vomiting, Hepatic failure	OMIM:252010
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Increased connective tissue, Atelectasis, Intercostal muscle weakness, Flexion c...	ORPHA:258
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hemangioma, Increased hematocrit, Increased hemoglobin	OMIM:263400
Cronkhite-Canada Syndrome	Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Hamartomatous polyposis, Neoplasm...	ORPHA:2930
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia	ORPHA:2140
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent otitis medi...	OMIM:607944
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,...	OMIM:617388
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, N...	ORPHA:66634
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Redundant skin, Congenital diaphragmatic hernia	ORPHA:171719
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Intrauterine growth retardation, Failure to thrive, Lipoatrophy	ORPHA:261304
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodg...	OMIM:305000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weakness, Dyspnea, Respir...	ORPHA:352447
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Tempi Syndrome	Hemangioma, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Riddle Syndrome	Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Erythema, Abnormal ...	ORPHA:420741
Juvenile Xanthogranuloma	Iritis, Blepharitis, Myeloproliferative disorder, Uveitis	ORPHA:158000
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age	ORPHA:45452
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmo...	ORPHA:542323
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom...	OMIM:232200
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Death in infancy, Hypertriglyceridemia, Recurrent upper respiratory tract infection...	OMIM:618183
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t...	ORPHA:1143
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Pneumonia, Jaundice, Hyperkalem...	ORPHA:90790
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Crackles, Respiratory tract infection, Dyspnea, Wheezing,...	ORPHA:79128
Mccune-Albright Syndrome	Pancytopenia, Cutaneous myxoma, Hepatocellular adenoma, Hepatitis, Cholestasis, Breast carcinoma,...	ORPHA:562
6Q16 Microdeletion Syndrome	Polyphagia, Abnormal temper tantrums	ORPHA:171829
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Apnea, Hypoglycemia	OMIM:240200
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi...	OMIM:620278
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly	OMIM:231670
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ...	OMIM:211600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Pitui...	ORPHA:189427
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P...	OMIM:249100
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure, Flexion contracture, Elbow flexion contracture, Knee flexion contracture	ORPHA:75840
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Redundant neck skin,...	ORPHA:3309
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An...	ORPHA:95409
Spinocerebellar Ataxia Type 1	Inertia, Respiratory failure, Bradykinesia, Dysphagia	ORPHA:98755
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Respiratory distress, Dysphagia	ORPHA:240103
Zellweger Syndrome	Feeding difficulties in infancy, Hepatomegaly, Jaundice, Hepatic failure	ORPHA:912
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Decreased liver function	OMIM:614883
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Multifocal Atrial Tachycardia	Dyspnea, Cryptorchidism, Tachypnea, Lethargy	ORPHA:3282
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Hurler-Scheie Syndrome	Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Small for gestational age, Tach...	ORPHA:555874
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Hepatitis, Feeding difficulties, ...	ORPHA:415
Hsd10 Disease, Infantile Type	Restlessness, Hypoglycemia, Hyperammonemia, Dysphagia, Paroxysmal bursts of laughter	ORPHA:391428
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Flexion contracture, Attent...	OMIM:619383
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Hyperphenylalaninemia, Bh4-Deficient, C	Dysphagia, Hyperphenylalaninemia	OMIM:261630
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Death in infancy, Hepatomegaly, Small for gestational age, Eleva...	OMIM:614866
Developmental And Epileptic Encephalopathy 75	Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Idiopathic Intracranial Hypertension	Lethargy, Obesity, Depression	ORPHA:238624
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Short stature, Hyperglycerolemia, Hypoglycemia, ...	OMIM:307030
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno...	ORPHA:85414
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom...	OMIM:615512
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Dysphagia	OMIM:613435
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Hypoglycemia, Pulmonary embolism...	ORPHA:79282
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Chronic otiti...	ORPHA:169090
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Growth delay, Hypoalbuminemia, Hypernatremia, Failure to thrive	OMIM:615508
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly...	OMIM:610377
Ciliary Dyskinesia, Primary, 1	Male infertility, Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Br...	OMIM:244400
Geleophysic Dysplasia 3	Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure	OMIM:617809
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia, Cutis laxa	OMIM:614100
Down Syndrome	Abnormality of the lymphatic system, Type II diabetes mellitus, Acute megakaryocytic leukemia	ORPHA:870
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Intrauterine growth retardation, Hypoplastic spleen, Dysphagia	ORPHA:89844
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Vomiting, Decreased liver function	OMIM:602199
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Severe ...	ORPHA:35173
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Uveitis, Melanoma, Retinoblast...	ORPHA:790
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Annular pancreas, Cholestasis, Acholic st...	OMIM:615710
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia	OMIM:620085
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive	ORPHA:91130
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:99826
Metatropic Dysplasia	Severe short stature, Flexion contracture, Disproportionate short-trunk short stature, Respirator...	OMIM:156530
Chronic Bilirubin Encephalopathy	Central apnea, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirub...	ORPHA:529808
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Acute Bilirubin Encephalopathy	Central apnea, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirub...	ORPHA:529799
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis	ORPHA:525
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia	ORPHA:95428
Myotonic Dystrophy 1	Respiratory distress, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testic...	OMIM:160900
Acth Deficiency, Isolated	Jaundice, Decreased circulating cortisol level, Fasting hypoglycemia, Cholestasis	OMIM:201400
Snakebite Envenomation	Epistaxis, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Respir...	ORPHA:449285
Peripartum Cardiomyopathy	Orthopnea, Diabetes mellitus, Crackles, Dyspnea, Asthma, Obesity, Respiratory failure, Paroxysmal...	ORPHA:563
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Flexion contracture, Hepatosplenomegaly, ...	ORPHA:505248
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, G...	ORPHA:809
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:300536
Pituitary Stalk Interruption Syndrome	Death in infancy, Short stature, Hypoglycemia, Delayed puberty, Failure to thrive	ORPHA:95496
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Aminoaciduria, Glycosuria, Pulmonary fibrosis, Hypophosphatemia, Decrea...	OMIM:618913
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ...	OMIM:617600
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi...	OMIM:619534
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Skin rash, Hypoglycemia, Jaundice, Di...	ORPHA:90062
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen...	OMIM:311250
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Death in childhood, Intrauterine growth retardation, Failur...	OMIM:615597
Scrub Typhus	Dyspnea, Splenomegaly, Restrictive ventilatory defect, Cough, Lethargy	ORPHA:83317
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Hypogonadotropic hypogonadism, Growth delay, Infertility, Delayed puberty, Decrease...	ORPHA:95619
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Smith-Lemli-Opitz Syndrome	Death in infancy, Hyperactivity, Hepatomegaly, Short stature, Aggressive behavior, Splenomegaly, ...	OMIM:270400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age, Prolonged neonatal jaundice, Umbilical hernia, D...	ORPHA:226313
Leptospirosis	Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, Jaundice, D...	ORPHA:509
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Mosaic Variegated Aneuploidy Syndrome 1	Feeding difficulties in infancy, Nephroblastoma, Leukemia, Embryonal rhabdomyosarcoma	OMIM:257300
Meningococcal Meningitis	Neonatal respiratory distress, Anorexia, Lethargy, Petechiae, Purpura	ORPHA:33475
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona...	ORPHA:98913
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Respiratory distre...	ORPHA:17
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Hepatic failure, Feeding difficulties	OMIM:619758
Immunodeficiency, Common Variable, 10	Hypoglycemia, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent viral upper respiratory...	OMIM:615577
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Hyperlipidemia, Hypoalbuminemia, Pleura...	ORPHA:567546
Silver-Russell Syndrome 1	Intrauterine growth retardation, Small for gestational age, Fasting hypoglycemia, Hepatocellular ...	OMIM:180860
Peroxisome Biogenesis Disorder 8B	Constipation, Decreased liver function, Dysphagia	OMIM:614877
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Enchondroma, Myositis, Diabetes mellitus, Chilblains, Neonatal all...	ORPHA:51
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic diarrhea	OMIM:614699
Dubowitz Syndrome	Eczema, Abnormality of neutrophils, Lymphoma, Chronic diarrhea, Acute lymphoblastic leukemia, Ane...	ORPHA:235
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, P...	ORPHA:90363
Giant Cell Arteritis	Pericarditis, Anorexia, Abdominal pain, Mediastinal lymphadenopathy, Arthritis, Gastrointestinal ...	ORPHA:397
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoglycemia	ORPHA:2158
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Lethargy, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Small for gestational age, Dysphagia, Hyperphenylalaninemia	OMIM:261640
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Peroxisome Biogenesis Disorder 5B	Decreased liver function	OMIM:614867
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Chronic diarrhea, Choles...	OMIM:614576
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Birt-Hogg-Dubé Syndrome	Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Depression, Growth delay, Prolonged neonatal jaundice, Lethargy, Abnormal circulating...	ORPHA:99832
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Increased circulating free fatty acid level, Aspiration, Failure to thrive, Hyp...	OMIM:610768
Galloway-Mowat Syndrome 3	Short stature, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Intrauterine growth retardation, Fa...	OMIM:617729
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre...	OMIM:604571
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Sple...	ORPHA:3452
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation, Dysphagia	OMIM:618233
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Growth delay, Recurrent hypoglycemia, Delayed puberty, ...	OMIM:616817
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Small for gestational age, Cryptorchidism, Dysphagia, Respiratory failure, Death i...	OMIM:619847
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Abdominal pain, Feeding difficulties in infancy, Splen...	ORPHA:355
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Pontocerebellar Hypoplasia, Type 13	Constipation, Decreased liver function, Feeding difficulties	OMIM:618606
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia	OMIM:202200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, P...	ORPHA:93111
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Choking episode...	ORPHA:137914
Hypophosphatasia	Emphysema, Short stature, Failure to thrive in infancy, Respiratory insufficiency	ORPHA:436
Succinic Acidemia	Respiratory distress	OMIM:600335
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio...	ORPHA:805
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Ful...	ORPHA:319213
Brucellosis	Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Vomiting, Inf...	ORPHA:1304
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul...	ORPHA:79321
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Hepatic cysts	OMIM:600666
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Developmental And Epileptic Encephalopathy 41	Lethargy, Flexion contracture	OMIM:617105
Intellectual Developmental Disorder, Autosomal Dominant 54	Eczema, Poor appetite, Gastrointestinal dysmotility, Feeding difficulties, Chronic constipation, ...	OMIM:617799
Amyotrophic Lateral Sclerosis	Dyspnea, Abnormal respiratory system physiology, Depression, Respiratory failure, Agitation	ORPHA:803
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Short stature, Impaired glucose tolerance, Insulin resistanc...	ORPHA:769
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Galloway-Mowat Syndrome 1	Small for gestational age, Short stature, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Intraute...	OMIM:251300
Khan-Khan-Katsanis Syndrome	Neutropenia, Feeding difficulties, Dysphagia, Lymphopenia, Anemia	OMIM:618460
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Odontochondrodysplasia	Respiratory distress, Death in infancy, Short stature, Dentinogenesis imperfecta	ORPHA:166272
Dubowitz Syndrome	Aplastic anemia, Eczema, Feeding difficulties in infancy, Lymphoma, Chronic diarrhea, Acute lymph...	OMIM:223370
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Respiratory failure, Small for gestational age, Camptodactyly	OMIM:618804
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Growth delay, Respirator...	ORPHA:496641
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Fle...	OMIM:618291
American Trypanosomiasis	Hepatomegaly, Skin rash, Abnormal large intestine physiology, Abdominal pain, Splenomegaly, Diarr...	ORPHA:3386
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia	OMIM:615986
Vici Syndrome	Left ventricular hypertrophy, Dysphagia, Chronic mucocutaneous candidiasis, Leukopenia, T lymphoc...	OMIM:242840
Malaria	Respiratory distress	ORPHA:673
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Elevated circulating alkaline...	OMIM:618268
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Diabetes mellitus, Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertensio...	OMIM:613845
Diamond-Blackfan Anemia 1	Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ...	OMIM:105650
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia, Inguinal hernia, Redunda...	OMIM:613177
Tarp Syndrome	Neonatal death, Hepatic failure	OMIM:311900
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Igg4-Related Kidney Disease	Lymphadenitis, Lymphocytoma cutis, Tubulointerstitial nephritis, Cholecystitis, Abdominal pain, A...	ORPHA:449395
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabetes mellitus...	ORPHA:1133
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Apnea, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive, Hom...	ORPHA:395
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Apathy, ...	OMIM:610505
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hyperalaninemia, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Small for gestatio...	ORPHA:404454
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation	OMIM:603689
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:610198
Tenorio Syndrome	Recurrent pneumonia, Hypoglycemia, Hypoinsulinemia, Apnea	OMIM:616260
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef...	ORPHA:3015
Exercise-Induced Malignant Hyperthermia	Vomiting, Decreased liver function, Hepatic failure, Nausea, Thrombocytopenia	ORPHA:466650
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hip contracture, Failure to thrive, Ankle flexion contracture, ...	ORPHA:2020
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Rhizomelia, Stillbirth, Pulmonary hypoplasia, Neonatal short-limb short sta...	OMIM:151210
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Obesity	OMIM:619471
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Inguinal hernia, Flexion contracture, Failure to thrive	ORPHA:544503
Herpes Simplex Virus Encephalitis	Nausea and vomiting, Leukocytosis, Neutrophilia	ORPHA:1930
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Stt3B-Cdg	Respiratory distress, Intrauterine growth retardation, Failure to thrive, Cryptorchidism	ORPHA:370924
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Splenomegaly, Juvenile myelomonocytic leukemia, Poor suck, Hepatosplenomegaly	OMIM:613563
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Failure to thrive	ORPHA:2707
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr...	OMIM:608885
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Recurrent respiratory infections, Orthopnea, Postnatal growth retardation, Dyspnea,...	ORPHA:75249
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Cough, Atelectasis, Skin ulcer, Cellulitis, Skin vesicle	ORPHA:2314
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Basal cell carcinoma, Squamous cell carcin...	ORPHA:79430
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Hypoalbuminemia, Dysphagia	OMIM:254900
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,...	ORPHA:33364
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Hepatomegaly, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhe...	ORPHA:36412
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Redundant neck skin, Postnatal growth retardation, Flexion contract...	ORPHA:254528
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Biotinidase Deficiency	Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Lethargy	OMIM:253260
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Atelectasis, Respiratory insufficiency,...	OMIM:269860
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Dysphagia	OMIM:230600
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Camptodactyly of finger	ORPHA:896
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Panniculitis, Inflammatory abnor...	ORPHA:33577
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab...	OMIM:230900
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Postnatal growth retardation, Insulin resistan...	ORPHA:508
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Self-injurio...	ORPHA:72
Boutonneuse Fever	Elevated hepatic transaminase, Respiratory failure, Petechiae	ORPHA:83313
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Fasting hypoglycemia	ORPHA:436174
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hyperkalemia,...	ORPHA:361
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	OMIM:616878
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Growth delay, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive	ORPHA:79396
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema	OMIM:620365
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Growth delay, Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior	OMIM:612716
Noonan Syndrome 2	Leukemia	OMIM:605275
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Hypoglycemia, Overweight, Growth delay, Umbilical hernia, Prolonged neonatal ...	ORPHA:226307
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Genetic Transient Congenital Hypothyroidism	Lethargy, Umbilical hernia, Increased circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:226316
Cole Disease	Hyperglycemia	OMIM:615522
Muscular Dystrophy, Duchenne Type	Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F...	OMIM:310200
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory f...	ORPHA:340
Oromandibular Dystonia	Respiratory distress, Bruxism, Depression, Weight loss, Dysphagia	ORPHA:93958
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Papi...	ORPHA:363618
Cohen Syndrome	Feeding difficulties in infancy, Neutropenia	ORPHA:193
Macrocephaly/Autism Syndrome	Recurrent otitis media, Splenomegaly, Lymphopenia, Hepatomegaly	OMIM:605309
Malignant Atrophic Papulosis	Pleural effusion, Peritonitis, Respiratory failure, Weight loss	ORPHA:679
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis, Hypermethioninemia, Hyperhomocystinemia	OMIM:236200
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Umbilical hernia, Prolonged neonatal jaundice, Letharg...	ORPHA:90673
Semilobar Holoprosencephaly	Central apnea, Short stature, Flexion contracture, Dysphagia, Depression, Growth delay, Apathy, A...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Short stature, Flexion contracture, Dysphagia, Depression, Growth delay, Apathy, A...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Short stature, Flexion contracture, Dysphagia, Depression, Growth delay, Apathy, A...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Short stature, Flexion contracture, Dysphagia, Depression, Growth delay, Apathy, A...	ORPHA:93924
Cog2-Cdg	Decreased liver function	ORPHA:435934
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Skin rash, Abdominal pain, Orchitis, S...	ORPHA:32960
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Weight loss, Growth delay,...	ORPHA:3337
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Respiratory failure, Death in infancy	OMIM:614862
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Man1B1-Cdg	Polyphagia	ORPHA:397941
Dystonia, Dopa-Responsive	Bradykinesia, Transient hyperphenylalaninemia	OMIM:128230
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of the pancreas, Anemia, Neutropenia	ORPHA:175
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent pneumon...	ORPHA:293978
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Hepatosplenomegaly, Hydrocele testis,...	ORPHA:79330
Microtriplication 11Q24.1	Hyperlipidemia, Obesity	ORPHA:289522
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:98914
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:590
Lysinuric Protein Intolerance	Hepatomegaly, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Anemia, Leukopenia...	OMIM:222700
Congenital Laryngeal Web	Respiratory distress, Stridor, Short stature	ORPHA:2374
Moebius Syndrome	Respiratory distress, Hypogonadotropic hypogonadism, Dysphagia, Camptodactyly, Arthrogryposis mul...	OMIM:157900
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Failure to thrive, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Redundant neck skin, Short stature, Redundant skin, Lipodystrophy, Postnatal gro...	ORPHA:357074
Pituitary Apoplexy	Nausea and vomiting, Normochromic anemia, Hypoglycemia, Pituitary adenoma	ORPHA:95613
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Short stature, Hyperbilirubinemia, Hypoglycemia	OMIM:613986
Silver-Russell Syndrome	Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Insulin resi...	ORPHA:813
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Short stature, Intercostal muscle weakness	OMIM:606071
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Diarrhea, Cardiomegaly	OMIM:252920
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splen...	OMIM:613471
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Flexion contracture	OMIM:616505
Addison Disease	Normocytic anemia, Nausea and vomiting, Hypoglycemia, Anorexia, Abdominal pain, Thiamine-responsi...	ORPHA:85138
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Isovaleric Acidemia	Lethargy, Hyperglycinuria	OMIM:243500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Postnatal growth reta...	ORPHA:536467
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Dyspnea, Pulmonary edema	OMIM:115197
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Abnormal dental enamel morphology, Delayed puberty	ORPHA:251004
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In...	OMIM:619377
Arterial Tortuosity Syndrome	Respiratory distress, Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Dyspnea, Pu...	ORPHA:3342
Short Syndrome	Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Insulin-resistant di...	OMIM:269880
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Dysp...	OMIM:617301
Joubert Syndrome 21	Apnea, Splenomegaly, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinus...	OMIM:615636
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Hypoglossia With Situs Inversus	Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia	OMIM:612776
Aromatase Deficiency	Insulin resistance, Hyperlipidemia, Hepatic steatosis, Type II diabetes mellitus	ORPHA:91
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Lethargy, Homocystinuria	OMIM:277410
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Asthma, Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Hepatomegaly, Limb joint contracture, Shoulder flexion con...	OMIM:620369
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Aggressive behavior, Obesity, Hepatosplenomegaly, Umbilical hernia, C...	OMIM:301066
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Glutamate Formiminotransferase Deficiency	Growth delay, Aminoaciduria, Positive ferric chloride test	OMIM:229100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Inguinal hernia, Small for gestational age, Hypoglycemia, Increased hepatocellu...	OMIM:220111
Medulloblastoma	Neoplasm of the lung, Lethargy, Elevated hepatic transaminase	ORPHA:616
Gm1-Gangliosidosis, Type I	Splenomegaly, Decreased beta-galactosidase activity, Vacuolated lymphocytes, Hepatomegaly	OMIM:230500
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Peroxisome Biogenesis Disorder 6B	Decreased liver function, Prolonged neonatal jaundice	OMIM:614871
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia	ORPHA:96168
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Classic Phenylketonuria	Depression, Growth delay, Self-injurious behavior, Attention deficit hyperactivity disorder, Hype...	ORPHA:79254
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Infertility, Irregular menstruation	OMIM:615962
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Sheehan Syndrome	Hypoglycemia, Nausea, Poor appetite, Normochromic anemia, Constipation, Hashimoto thyroiditis	ORPHA:91355
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Pituitary adenoma, Insulinoma, Diarrhea, Adrenocorti...	OMIM:131100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Lethargy, Failure to...	ORPHA:427
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Thrombocytopenia, D...	ORPHA:572798
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Inguinal hernia, Growth delay, Pulmonary arterial hypertension, Failure to ...	OMIM:619272
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:248370
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Panniculitis, Leukemia, Lymphoma, Erysipelas	ORPHA:2526
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Cough, Abnormal lung morphology, Partial ...	ORPHA:185
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Insulin-resistant diabetes mellitus, Neo...	ORPHA:2959
Craniofaciofrontodigital Syndrome	Respiratory distress, Short stature, Large for gestational age, Dyspnea, Cutis laxa, Hernia, Palm...	ORPHA:363705
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension	OMIM:619431
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Periportal fibros...	OMIM:263200
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Inflammatory abnormality of ...	ORPHA:565612
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Juvenile Polyposis Of Infancy	Subcutaneous lipoma, Short stature, Hypoalbuminemia, Cachexia	ORPHA:79076
Chronic Mucocutaneous Candidiasis	Feeding difficulties in infancy, Cheilitis, Skin rash, Hepatitis	ORPHA:1334
Listeriosis	Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, Hepatic granu...	ORPHA:533
Deeah Syndrome	Hepatomegaly, Death in infancy, Neonatal respiratory distress, Short stature, Cryptorchidism, Dea...	OMIM:619004
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Constipation, Anemia	OMIM:239200
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,...	ORPHA:95455
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Aggressive behavior, Contracture of the proximal interphalangeal joint of the 4th t...	ORPHA:457279
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Acute lymphoblastic leukemia, Neoplasm, Nephr...	ORPHA:1052
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Large for gestational age, Flexion contracture, Hepatoblastoma, Intrauterine...	ORPHA:96334
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla...	OMIM:156200
Poland Syndrome	Diabetes mellitus, Retinal hamartoma, Acute leukemia, Abnormality of the liver, Neoplasm of the b...	ORPHA:2911
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for ...	ORPHA:2255
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:280000
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Tongue thrusting, Apnea, Cardiorespiratory arrest	OMIM:608643
Alagille Syndrome 1	Elevated hepatic transaminase, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepa...	OMIM:118450
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Sotos Syndrome	Aggressive behavior, Increased body weight, Glucose intolerance, Attention deficit hyperactivity ...	OMIM:117550
Osteogenesis Imperfecta, Type X	Respiratory distress, Inguinal hernia, Rhizomelia, Short stature, Recurrent pneumonia, Death in c...	OMIM:613848
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hypoglycemia, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Feeding difficulties ...	ORPHA:116
Holoprosencephaly	Hyponatremia, Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congeni...	ORPHA:2162
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Postnatal growth retardation, Cryptorchidism, Insulin resistance, Aspi...	ORPHA:96182
Achondroplasia	Respiratory distress, Death in infancy, Rhizomelia, Upper airway obstruction, Pulmonary hypoplasi...	OMIM:100800
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adnp Syndrome	Respiratory distress, Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dyspha...	ORPHA:404448
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomega...	ORPHA:2796
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Abnormality of Krebs cycle metabolism, Dysphagia, Hepatic failure, Episodic vomiting	ORPHA:255210
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Diabetes melli...	ORPHA:273
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, E...	OMIM:242700
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib...	OMIM:218330
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Upper airway obstruction	ORPHA:100057
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin...	OMIM:615356
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Restlessness, Resp...	OMIM:615273
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Amoebiasis Due To Free-Living Amoebae	Restlessness, Sinusitis, Pneumonia, Respiratory tract infection, Skin ulcer, Lethargy	ORPHA:68
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure, Limb joint contracture, Cryptorchidism	OMIM:620327
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Vomiting, Optic neuritis, Nausea, Myelitis	ORPHA:83597
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder, Osteomyelitis	ORPHA:70591
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal asphyxia, Hyperkalemia, Increased ci...	ORPHA:90791
Atypical Werner Syndrome	Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fas...	ORPHA:79474
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Chronic constipation, Neutropenia	ORPHA:163956
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Failure to thrive, Small for gestational age, Cryptorchid...	OMIM:224690
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Shashi-Pena Syndrome	Intrauterine growth retardation, Hypoglycemia	OMIM:617190
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Luscan-Lumish Syndrome	Polyphagia, Aggressive behavior	OMIM:616831
Wagro Syndrome	Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior	OMIM:612469
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea, Positive ferric chloride test	OMIM:250900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Death in childhood, Lethargy, Erythema, Aggressive behavior	OMIM:618321
Secondary Short Bowel Syndrome	Polyphagia, Primary hypothyroidism, Central hypothyroidism	ORPHA:95427
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Failure to thrive, Cachexia	ORPHA:206436
Syndromic Diarrhea	Hepatomegaly, Dependency on intravenous nutrition, Gastritis, Increased mean platelet volume, Spl...	ORPHA:84064
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Rubinstein-Taybi Syndrome 1	Accessory spleen, Feeding difficulties in infancy, Feeding difficulties, Papillary cystadenoma of...	OMIM:180849
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Flexion contracture	OMIM:618201
Aspartylglucosaminuria	Hepatomegaly, Acne, Diarrhea, Vacuolated lymphocytes, Neutropenia	OMIM:208400
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Hepatosplenomegaly	ORPHA:168569
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short stature	OMIM:617102
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Short stature, Hypogonadotropic hypogonad...	ORPHA:177907
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Nephroblastoma, Gastrostomy tube feeding in infancy, Ependymoma, Annular...	ORPHA:798
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Gluco...	OMIM:619127
Costello Syndrome	Redundant neck skin, Short stature, Hypoglycemia, Achilles tendon contracture, Pneumothorax, Resp...	OMIM:218040
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Inguinal hernia, Failure to thrive, Biliary hyperplasia, Post...	ORPHA:83617
Kniest Dysplasia	Respiratory distress, Hip contracture, Inguinal hernia, Rhizomelia, Disproportionate short-trunk ...	OMIM:156550
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, ...	ORPHA:79318
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, P...	OMIM:243800
Ellis Van Creveld Syndrome	Acute leukemia	ORPHA:289
Bannayan-Riley-Ruvalcaba Syndrome	Lipoma, Short stature, Cachexia, Hypoglycemia	ORPHA:109
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Leukocytosis, Chr...	ORPHA:99843
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Netherton Syndrome	Recurrent respiratory infections, Short stature, Asthma, Emphysema, Dry skin	ORPHA:634
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
De Barsy Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Short stature, Lipodystrophy, Postnatal grow...	ORPHA:2962
Focal Dermal Hypoplasia	Acute hepatic failure, Abdominal pain, Gastroesophageal reflux, Papilloma, Giant cell tumor of bone	ORPHA:2092
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Failure to thrive, Short stature	ORPHA:280210
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Short stature	ORPHA:1861
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Umbilical hernia, Small for gestational age, Hypoglycemia	OMIM:614501
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha...	OMIM:602782
Coccidioidomycosis	Respiratory distress, Pneumonia, Abnormality of the spleen, Peritonitis, Atypical scarring of ski...	ORPHA:228123
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Short stature, Hypoglycemic seizures	OMIM:262600
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Death in infancy, Hip contracture, Large for gestational age, Microvesicular hepati...	OMIM:300868
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive, Flexion contracture	OMIM:201470
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Mosaic Trisomy 9	Camptodactyly of finger, Asplenia, Cryptorchidism, Abnormal lung lobation, Abnormal liver lobulat...	ORPHA:99776
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Scheie Syndrome	Splenomegaly, Rhinitis, Hepatomegaly	ORPHA:93474
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic stea...	OMIM:616263
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Neonatal hypoglycemia, Congenital foot contractures	ORPHA:565624
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Polyphagia, Self-mutilation, Aggressive behavior	ORPHA:251028
Holocarboxylase Synthetase Deficiency	Lethargy, Tachypnea, Hyperventilation	OMIM:253270
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Dysphagia	ORPHA:98805
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Pulmonary embolism, Dyspnea, Jaundice, Dysphagia, Glycosuria, Unconjugated ...	ORPHA:447
Chime Syndrome	Acute leukemia	ORPHA:3474
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Obesity	ORPHA:369837
Cocaine Intoxication	Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach...	ORPHA:90068
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Short stature, Congenital diaphragmatic hernia	OMIM:606164
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Dysphagia	OMIM:607483
Gitelman Syndrome	Neoplasm of the pancreas, Respiratory distress, Salt craving, Maternal diabetes, Insulin resistan...	ORPHA:358
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Meier-Gorlin Syndrome 4	Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda...	OMIM:613804
Japanese Encephalitis	Respiratory distress, Irregular respiration, Anorexia, Elbow flexion contracture, Respiratory par...	ORPHA:79139
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Cryptorchidism, Hernia,...	OMIM:217980
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Growth delay, Flexion contracture, Short stature, Hypoglycemia	OMIM:616007
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ...	ORPHA:521219
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Anorexia, Splenomegaly, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary inte...	OMIM:181000
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Medulloblastoma, Odontogenic keratocysts of the jaw	ORPHA:199276
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivit...	ORPHA:2131
Rett Syndrome	Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, Increased serum leptin	ORPHA:778
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, Pneumothor...	ORPHA:3404
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Oculocerebrorenal Syndrome Of Lowe	Compulsive behaviors, Abnormal repetitive mannerisms, Death in infancy, Short stature, Abnormal d...	ORPHA:534
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Respiratory failure, Agitation, Dys...	ORPHA:2912
Biotinidase Deficiency	Respiratory distress, Lethargy, Apnea, Hyperventilation	ORPHA:79241
Perlman Syndrome	Hypoglycemia, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Large for gesta...	OMIM:267000
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failur...	ORPHA:79404
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy...	OMIM:263700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Recurrent pneumonia, Anemia, Hepatomegaly	OMIM:612301
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Menkes Disease	Inguinal hernia, Hypoglycemia, Atypical scarring of skin, Umbilical hernia, Hernia, Prolonged neo...	ORPHA:565
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Pleural effusion, Neonatal hypoglycemia, Pulmonary edema	OMIM:261740
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati...	OMIM:300867
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Abnormality of the pancreas, Umbilical hernia, Cryptorchidism	ORPHA:1555
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Eisenmenger Syndrome	Respiratory distress, Hepatomegaly, Increased pulmonary vascular resistance, Wheezing, Aortopulmo...	ORPHA:97214
Thauvin-Robinet-Faivre Syndrome	Nephroblastoma, Transient neutropenia	OMIM:617107
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation	OMIM:619793
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Transient neutropenia, Chronic neutropenia, Enlarged kidney	ORPHA:500095
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Redundant skin, Congenital diaphragmatic herni...	OMIM:219100
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Short stature	OMIM:300968
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoglycemia, Nephroblastoma, Splenomegaly, Neoplasm, Pancreatic islet-cell hyperpl...	ORPHA:373
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hypercalcemia, Anorexia, Insulinoma, Weight loss, Depression, Multiple ...	ORPHA:652
Ear-Patella-Short Stature Syndrome	Respiratory distress, Severe short stature, Camptodactyly of finger, Cryptorchidism, Dyspnea, Gro...	ORPHA:2554
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Depression, Bradykinesia, Transient hyperphenylalaninemia, Comp...	ORPHA:98808
22Q11.2 Deletion Syndrome	Inguinal hernia, Bipolar affective disorder, Short stature, Abnormal dental enamel morphology, Sp...	ORPHA:567
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Bilateral trilobed lung, Hepatomegaly, Respiratory distress, Asplenia, Biliary atres...	OMIM:306955
Encephalitis Lethargica	Lethargy, Hyperventilation	ORPHA:83600
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Abnormal repetitive mannerisms, Breathing dysregul...	ORPHA:79155
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Stridor, Growth delay, Umbilical hernia, Hyperbilirubi...	OMIM:218700
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal...	ORPHA:79277
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lung lobatio...	ORPHA:141127
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Small for gestational age	OMIM:606721
Familial Tumoral Calcinosis	Splenomegaly, Skin rash, Neoplasm of the skin, Hepatomegaly	ORPHA:53715
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Hypertriglyceridemia	ORPHA:536532
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Respiratory failure	ORPHA:3240
Occipital Horn Syndrome	Gastroparesis, Jaundice, Hepatitis, Cholestasis, Gastroesophageal reflux, Esophagitis, Dysphagia,...	ORPHA:198
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Feeding difficulties in infan...	OMIM:163950
Mgat2-Cdg	Respiratory distress, Recurrent upper and lower respiratory tract infections, Failure to thrive, ...	ORPHA:79329
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Autosomal Recessive Cutis Laxa Type 1	Inguinal hernia, Severe short stature, Redundant skin, Pneumothorax, Recurrent pneumonia, Lack of...	ORPHA:90349
Cerebral Visual Impairment	Neonatal hypoglycemia, Attention deficit hyperactivity disorder	ORPHA:447788
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Uterine prolapse, Emphysema...	OMIM:123700
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Alström Syndrome	Respiratory distress, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepato...	ORPHA:64
Dend Syndrome	Hyperglycemia	ORPHA:79134
Myoclonic Epilepsy Of Lafora	Hepatic failure	OMIM:254780
Oculodentodigital Dysplasia	Umbilical hernia, Camptodactyly of finger, Hypoglycemia, Abnormal dental enamel morphology	ORPHA:2710
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:77261
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Intrauterine growth retardation, Respiratory failure	ORPHA:158687
Plague	Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Skin ulcer, Depression, Acute infecti...	ORPHA:707
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Chromosome 6Q24-Q25 Deletion Syndrome	Growth delay, Intrauterine growth retardation, Respiratory distress	OMIM:612863
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Digeorge Syndrome	Inguinal hernia, Bipolar affective disorder, Short stature, Femoral hernia, Atelectasis, Splenome...	OMIM:188400
Tropical Endomyocardial Fibrosis	Orthopnea, Hepatomegaly, Cachexia, Dyspnea, Splenomegaly, Pulmonary venous hypertension, Hypoalbu...	ORPHA:75565
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Cryptorchidism, Redundant neck skin, Pulmonary arterial hypertension	ORPHA:2519
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:168558
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Pulmonary hypoplasia	ORPHA:1848
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Failure to thrive, Severe short stature, Abnormal dental enamel morphology,...	ORPHA:2556
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:289548
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Failure to thrive in infancy, Proportionate short s...	ORPHA:500150
Glycine Encephalopathy	Hyperglycinemia, Respiratory acidosis, Lethargy, Breathing dysregulation	ORPHA:407
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure	ORPHA:423
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh...	ORPHA:293987
Multiple Myeloma	Functional abnormality of the gastrointestinal tract, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Flexion contracture	OMIM:271225
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Diamond-Blackfan Anemia 10	Respiratory distress, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic hern...	OMIM:613309
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Failure to thrive	ORPHA:50810
Ramos-Arroyo Syndrome	Respiratory distress, Severe short stature, Decreased body weight, Severe failure to thrive, Self...	ORPHA:1051
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Neonatal hypoglycemia, Small cell lung carcinoma, Feeding d...	ORPHA:821
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Respiratory failure requiri...	ORPHA:99125
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Severe short stature, Small for gestational age, Cryptorchidism...	OMIM:616835
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Myhre Syndrome	Short stature, Small for gestational age, Cryptorchidism, Obesity, Respiratory insufficiency, Bir...	OMIM:139210
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Failure to thrive, Apnea, Contracture of the...	OMIM:114290
Neonatal Marfan Syndrome	Neonatal respiratory distress, Lipoatrophy, Small for gestational age, Flexion contracture, Cutis...	ORPHA:284979
Camurati-Engelmann Disease	Hepatomegaly, Anorexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Anemia, Elevat...	ORPHA:1328
8Q24.3 Microdeletion Syndrome	Respiratory distress, Infancy onset short-trunk short stature, Hyperactivity, Short stature, Ingu...	ORPHA:508488
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of respiration,...	ORPHA:31826
Hepatoerythropoietic Porphyria	Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Recurrent bacterial skin...	ORPHA:95159
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia, Nasogastric tube feeding	ORPHA:501
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Short stature	OMIM:610536
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Dysphagia, Feeding difficulties, Fasting h...	ORPHA:25
Trichinellosis	Lethargy, Apathy, Dysphagia	ORPHA:863
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Umbilical hernia, Inguinal hernia, Splenic cyst	OMIM:618188
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ...	OMIM:616268
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc...	ORPHA:210122
Rodrigues Blindness	Nasal flaring, Short stature	OMIM:268320
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature	OMIM:183900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Short stature, Miscarriage, Hyperkalemia, Wei...	ORPHA:90794
Autosomal Dominant Cutis Laxa	Inguinal hernia, Redundant neck skin, Redundant skin, Postnatal growth retardation, Bronchiectasi...	ORPHA:90348
Osteoglophonic Dysplasia	Respiratory distress, Inguinal hernia, Severe short stature, Rhizomelia, Camptodactyly of finger,...	OMIM:166250
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Short stature, Lipodystrophy, Postnatal grow...	ORPHA:2834
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal...	ORPHA:1578
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Lethargy	ORPHA:2177
Generalized Glucocorticoid Resistance Syndrome	Increased circulating cortisol level, Hypokalemia, Hypoglycemia	ORPHA:786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R...	ORPHA:99885
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor, Dysphagia	ORPHA:100050
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Otitis media, Chronic rhinitis, Anemia	ORPHA:667
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Redundant neck skin, Respiratory distress	OMIM:123790
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Failure to thrive, Small for gestational age, Death in childhood	OMIM:618252
Sponastrime Dysplasia	Recurrent pneumonia, Neutropenia	ORPHA:93357
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Dermal translucency, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spont...	OMIM:130050
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Short stature, Hypoglycemia, Hypogonadotropic hypogonadism, Growth delay, Inf...	ORPHA:90695
Otopalatodigital Syndrome, Type Ii	Omphalocele, Short stature, Elbow contracture, Postnatal growth retardation, Cryptorchidism, Resp...	OMIM:304120
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Nasogastric tube feeding in infancy, Cavernous hemangioma of the face, Recurrent pneumonia, Caver...	ORPHA:99646
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Hyp...	ORPHA:1606
Neurooculorenal Syndrome	Postnatal growth retardation, Decreased circulating cortisol level, Conjugated hyperbilirubinemia...	OMIM:620305
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance	ORPHA:90154
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:243910
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Hypertriglyceridemia, Small for gestational age	OMIM:264090
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:881
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Jaundice, Neurofibroma, Hyperbilirubinemia, Hepatic steatosis	OMIM:619475
Beckwith-Wiedemann Syndrome	Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplas...	OMIM:130650
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatomegaly	OMIM:612132
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Polyphagia, Dysphagia, Congenital hypothyroidism, C...	OMIM:607872
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Nasal flaring, Obesity, Self-injurious behavior, Attention deficit h...	ORPHA:466943
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Stüve-Wiedemann Syndrome	Respiratory distress, Short stature, Camptodactyly of finger, Apnea, Asthma, Flexion contracture,...	ORPHA:3206
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy, Dysphagia	ORPHA:306674
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hepatic steatosis	OMIM:619321
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype...	OMIM:201750
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Short stature, Moderately short stature, Ena...	OMIM:119600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Dyspnea, Cryptorchidism, Respiratory failure, Intrauterine growth retardation	ORPHA:2636
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp...	OMIM:600001
Ogden Syndrome	Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, ...	OMIM:300855
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Dry skin, Periorbital wrinkles	OMIM:305100
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hepatic steatosis, Type II diabetes mellitus	ORPHA:3455
Chand Syndrome	Atelectasis, Dry skin	ORPHA:1401
Scorpion Envenomation	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Glycosuria, In...	ORPHA:466677
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Congenital diaphragmatic hernia, Emphysema, Cutis laxa, Pulmonary artery aneurys...	OMIM:614437
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Short stature, Respiratory distress	OMIM:617088
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Hypoglycemia, Hypogonadotropic hypogonadism, Growth delay, Infertility, Delay...	ORPHA:95494
Aortic Arch Interruption	Respiratory distress, Exertional dyspnea, Tachypnea, Aortopulmonary window	ORPHA:2299
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Short stature, Cyst of the ductus choledochus, Delayed puberty, Recurrent u...	ORPHA:480880
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Delayed menarche, Puber...	ORPHA:740
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Portal hypertension, Cholestasis, Hepatosplenomegaly, Hypocalcemia, Hypomagnesemia, Hepatic steat...	OMIM:619503
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Holoprosencephaly 1	Short stature, Hypoglycemia	OMIM:236100
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test	ORPHA:444077
Generalized Arterial Calcification Of Infancy	Respiratory distress, Failure to thrive in infancy, Hepatic calcification, Pulmonary arterial hyp...	ORPHA:51608
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Pineoblastoma	Lethargy	ORPHA:251909
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800

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 Cebpa

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 Cebpa.

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

Order Mouse and ES Cells

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

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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