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Gene: Abcg1 MGI:107704

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ATP binding cassette subfamily G member 1

Synonyms:

White, Abc8

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 Abcg1 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 Abcg1 (0 diseases)
Human diseases predicted to be associated with Abcg1 (1002 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Abcg1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu...	OMIM:617585
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine...	OMIM:619281
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope...	OMIM:226990
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia	ORPHA:88621
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ...	OMIM:615592
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Immunodeficiency 24	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased ...	OMIM:615897
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Elevated circulating C-reactive protein concentration, Atelectasis, Leukocytosis, Hyper...	ORPHA:2902
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve...	OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythro...	ORPHA:169160
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi...	ORPHA:486
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:607616
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula...	OMIM:619644
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv...	ORPHA:724
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu...	OMIM:147060
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Immunodeficiency 50	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp...	OMIM:300988
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem...	OMIM:269840
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 104	Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect...	ORPHA:1163
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recu...	OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho...	OMIM:615703
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El...	OMIM:615559
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i...	OMIM:602450
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu...	OMIM:607594
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:2070
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome...	OMIM:615387
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea...	OMIM:618459
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Failure to thrive, Hypoglycemia, Hepatomegaly	ORPHA:67046
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent cir...	OMIM:620282
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist...	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pn...	OMIM:615518
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum...	OMIM:300400
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Omenn Syndrome	Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy...	ORPHA:39041
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia	OMIM:616022
Peeling Skin Syndrome 1	Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ...	OMIM:603554
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res...	OMIM:618944
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Tub...	ORPHA:139402
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Decreased circulating IgG2 leve...	OMIM:102700
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt...	OMIM:233650
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I...	OMIM:256500
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Roifman Syndrome	Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev...	ORPHA:353298
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Anem...	OMIM:603552
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Abs...	OMIM:615816
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, C...	ORPHA:98813
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie...	OMIM:619126
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c...	OMIM:308240
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight	ORPHA:314811
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De...	ORPHA:90045
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu...	OMIM:615214
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia	OMIM:610798
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Roifman Syndrome	Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media	OMIM:616651
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosi...	OMIM:618999
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ...	OMIM:618987
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Acute colitis, Increased circulating interleukin 6...	ORPHA:544482
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a...	ORPHA:2686
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In...	ORPHA:2314
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increas...	ORPHA:397596
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Wells Syndrome	Eosinophilia	ORPHA:901
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abscess, Eosinophilia, Asthma, Membranous nephropathy, ...	ORPHA:400
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv...	ORPHA:449400
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia, Recurrent streptococcus pneumoniae infections	ORPHA:70592
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia	OMIM:240800
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia, Re...	OMIM:619164
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko...	ORPHA:293173
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat...	ORPHA:36238
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Griscelli Syndrome, Type 2	Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le...	ORPHA:3392
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Immunodeficiency 19	Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis...	OMIM:615617
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent upper respiratory t...	OMIM:619752
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypo...	OMIM:612541
Wiskott-Aldrich Syndrome	Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the surface of ...	OMIM:301000
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections, Hypoproteinemia, Lung abscess,...	OMIM:241600
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD...	OMIM:619846
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Decreased circula...	OMIM:616740
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas...	ORPHA:507
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Eosino...	ORPHA:183
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent upper respiratory tract infections, Re...	ORPHA:277
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac...	ORPHA:1302
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Unsteady gait, Hypoglycemia	OMIM:610090
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Abnormal pulmonary inters...	OMIM:619013
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa...	OMIM:615122
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Incre...	ORPHA:293964
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-...	OMIM:615767
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ...	ORPHA:276556
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fast...	ORPHA:276575
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruction, Br...	OMIM:613490
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:446
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Recurrent upper respiratory tract infections, Bron...	OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Chronic oral candidiasis, Recurrent bacterial skin infections, D...	ORPHA:276
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,...	ORPHA:540
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, T lymp...	OMIM:619510
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, He...	ORPHA:369
Loeffler Endocarditis	Dyspnea, Pericarditis, Eosinophilia, Cough	ORPHA:75566
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis	ORPHA:280356
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marr...	OMIM:301078
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Mehmo Syndrome	Hypoglycemia, Small for gestational age, Aggressive behavior, Inability to walk, Obesity, Gait at...	OMIM:300148
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma	OMIM:617425
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder...	ORPHA:35878
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Bronchiectasis	ORPHA:477814
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic...	OMIM:242860
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Abnormal circulating lipid concentration, Elevated circula...	ORPHA:829
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, ...	ORPHA:292
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa...	OMIM:619858
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu...	ORPHA:178320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de...	OMIM:616100
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia...	OMIM:618495
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Elevate...	ORPHA:79126
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun...	OMIM:613179
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Hemochromatosis, Neonatal	Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat...	OMIM:231100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Eosinophilia, Cholangitis, Dyspnea, Abnormal spleen morphology, In...	ORPHA:284
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Leukocytosis...	ORPHA:3260
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti...	OMIM:614868
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Obesity, Fasting hypoglycemia	ORPHA:171706
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca...	ORPHA:71
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Decreased liver function	OMIM:246900
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating...	OMIM:615980
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre...	OMIM:619048
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu...	OMIM:615482
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli...	ORPHA:228123
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Attention deficit hyperactivity disorder	OMIM:620211
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration...	OMIM:261680
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, ...	ORPHA:228119
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash...	ORPHA:572
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta...	OMIM:619386
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Riboflavin Deficiency	Hypoglycemia, Hypothermia	OMIM:615026
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Dysp...	ORPHA:98826
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis...	OMIM:611926
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent...	OMIM:612444
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno...	ORPHA:79124
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, T...	ORPHA:47612
Microlissencephaly	Pneumonia	ORPHA:1083
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Eosinop...	ORPHA:199299
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat...	OMIM:608184
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Inability to walk, Athetosis, Gait disturbance, Loss of ambulation	OMIM:618241
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Unsteady gait, Gait ataxia	OMIM:618158
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Hyper...	ORPHA:2035
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis	OMIM:608709
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,...	OMIM:613027
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Abno...	ORPHA:449563
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysphagia, Failure to thrive	OMIM:618958
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis	ORPHA:26792
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Decreased liver function	ORPHA:67048
Hsd10 Mitochondrial Disease	Restlessness, Hypoglycemia, Aggressive behavior, Choreoathetosis, Agitation	OMIM:300438
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp...	OMIM:618805
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,...	OMIM:307200
Immunodeficiency With Hyper-Igm, Type 3	Increased circulating IgM level, Decreased circulating IgE, Neutropenia, Decreased circulating Ig...	OMIM:606843
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Recurrent pneumoni...	ORPHA:508533
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloi...	ORPHA:37042
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst...	OMIM:612387
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Inc...	OMIM:267700
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Immunodeficiency, Common Variable, 2	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent...	OMIM:240500
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, R...	OMIM:615468
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati...	OMIM:264470
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613807
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hypoglycemia	OMIM:232400
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology, Elevated circulating creatine kinase concentration	ORPHA:353
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut...	ORPHA:101096
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas...	OMIM:604250
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Abn...	ORPHA:47
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Sea-Blue Histiocytosis	Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight	ORPHA:231140
Sarcoidosis	Abnormal lung morphology, Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephrit...	ORPHA:797
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia, Neutropenia	OMIM:618253
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel...	OMIM:619375
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ...	OMIM:604367
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Abnormal pulmonary interstitial morphology,...	OMIM:620233
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Hypoglycemia, Hepatic fai...	ORPHA:2394
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Atelectasi...	OMIM:306400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas...	ORPHA:263455
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Camptodactyly of finger, Dysmetria, Hypoglycemia	ORPHA:48431
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia	OMIM:614741
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis	ORPHA:363400
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:261750
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Cachexia, Distal arthrogryposi...	ORPHA:42
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Elevated circu...	OMIM:615381
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st...	OMIM:615438
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-bl...	OMIM:257200
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele...	OMIM:617950
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Hypoxemia, Abnormal circul...	ORPHA:70578
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Propionic Acidemia	Hepatomegaly, Hypoglycemia	ORPHA:35
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Pyruvate Carboxylase Deficiency	Athetosis, Hypoglycemia, Hepatomegaly	OMIM:266150
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He...	ORPHA:39812
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Melioidosis	Brain abscess, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Jaundice, Gait disturbance, Ga...	ORPHA:79239
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233710
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy	ORPHA:6
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter...	OMIM:620296
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration	OMIM:222765
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Small for gestational age	OMIM:615160
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Chronic gastritis, Increased circulating interleukin 6 concentr...	OMIM:301074
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia	ORPHA:289504
Relapsing Fever	Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leukocytosis, Ele...	ORPHA:91547
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233690
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate...	OMIM:245400
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Incontinentia Pigmenti	Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis	OMIM:308300
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Hypocalcemic ...	ORPHA:83471
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Splenomegaly, Incre...	OMIM:603553
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Elevated circulating C-rea...	OMIM:612852
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Gait imbalance, Ankle flexion contracture	OMIM:618120
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Inc...	ORPHA:449432
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Donohue Syndrome	Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive, Hepatic fibrosis, P...	OMIM:246200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog...	OMIM:256810
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased...	ORPHA:528
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor...	OMIM:606367
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr...	ORPHA:1304
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ...	OMIM:617600
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Herpes Simplex Virus Encephalitis	Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat...	ORPHA:1930
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen...	ORPHA:444490
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent respiratory infections, Hemolytic anemia, Reticulocyto...	OMIM:618278
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respiratory insufficiency, R...	OMIM:607625
Pyridoxine-Dependent Epilepsy	Restlessness, Hypoglycemia	ORPHA:3006
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Atte...	ORPHA:73272
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Hypoglycemia, Choreoathetosis, Dysphagia, Loss of ambulation, Paroxysmal ...	ORPHA:391428
Incontinentia Pigmenti	Skin rash, Eosinophilia, Keratitis, Uveitis, Pulmonary arterial hypertension, Infectious encephal...	ORPHA:464
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J...	OMIM:617049
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Fail...	ORPHA:2089
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Hy...	ORPHA:811
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa...	ORPHA:79083
Immunodeficiency 77	Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess	OMIM:619223
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen...	OMIM:619381
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr...	ORPHA:264675
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Chronic mucocutaneous...	OMIM:209920
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Temple Syndrome	Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia	ORPHA:254516
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Steatorrhea, Neutropenia	OMIM:618752
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia	ORPHA:163693
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu...	OMIM:214500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis	ORPHA:2348
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Abnormal circu...	ORPHA:470
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Abscess, Pneumon...	ORPHA:125
Galactokinase Deficiency	Hepatomegaly, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenomegaly, Fail...	ORPHA:79237
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Small for gestational a...	ORPHA:391408
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia	OMIM:620365
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis	OMIM:620137
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Ataxia, Splenomegaly, Agitation, Failure to thrive, Neonatal hypoglycemia	OMIM:619046
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia...	OMIM:308230
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Unsteady gait, Hypoglycemia	ORPHA:79096
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat...	ORPHA:2088
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Failure to thrive, Hypoglycemia	OMIM:614739
Shigellosis	Hyponatremia, Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal...	ORPHA:810
Q Fever	Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Thrombocyt...	ORPHA:781
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermat...	ORPHA:293978
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Rest...	OMIM:607944
Immunodeficiency 58	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Eczema, Allergic rhiniti...	OMIM:618131
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Ataxia, Hypoglycemia	ORPHA:95428
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo...	ORPHA:227990
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Dysmetria, Athetosis	OMIM:617710
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulat...	OMIM:274000
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Lysinuric Protein Intolerance	Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalveolar phosphol...	OMIM:222700
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure	OMIM:616483
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Microvesicular he...	OMIM:619418
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Hypothermia, Fasting hypoglycemia, Hepatic...	ORPHA:159
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Recurrent hypoglycemia, Hyperi...	ORPHA:79644
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo...	ORPHA:227982
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Hypoadrenocorticism, Familial	Cyanosis, Hypoglycemia	OMIM:240200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatocellular ...	OMIM:201475
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia	ORPHA:156
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyngitis, Bronchie...	ORPHA:168569
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Blue Diaper Syndrome	Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli...	ORPHA:94086
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Pneumothorax, Bone marrow hypocellularity, Infection associated ne...	ORPHA:445038
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Pericarditis, Recurrent intrapulmonary hemorrhage, Sinusitis, E...	ORPHA:900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Dyspnea, Elevated circulating creatinine concentration, Crescentic glomerulon...	ORPHA:93126
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Inguinal hernia, Hypoglycemia, Attention deficit hyperactivity disorder	ORPHA:397590
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Nephritis...	ORPHA:2552
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con...	ORPHA:79086
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Cholestasis	OMIM:201400
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia	ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular...	OMIM:618329
Spontaneous Periodic Hypothermia	Ataxia, Hypothermia, Gait disturbance	ORPHA:29822
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increased mean ...	OMIM:127550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation...	OMIM:616026
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Failure to thrive, Hypoglycemia	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti...	OMIM:231530
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Lujo Hemorrhagic Fever	Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Elevated circulating C-reacti...	ORPHA:319213
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Splenomega...	OMIM:617303
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613808
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Bachmann-Bupp Syndrome	Large for gestational age, Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive beh...	OMIM:619075
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:610198
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia	ORPHA:134
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato...	ORPHA:14
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Aspiration pneumonia, Hypoplastic splee...	OMIM:617053
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Maple Syrup Urine Disease	Ataxia, Pancreatitis, Hypoglycemia	OMIM:248600
Developmental And Epileptic Encephalopathy 78	Inability to walk, Hypothermia	OMIM:618557
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta...	ORPHA:542323
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis...	OMIM:212065
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive	OMIM:615453
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ...	ORPHA:2298
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Respirato...	ORPHA:2968
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate...	OMIM:617253
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular a...	ORPHA:79240
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Elevated circulating alpha-fetoprotein concentration,...	OMIM:208900
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:300536
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl...	ORPHA:340
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Hypothermia, Prolonged neonatal jaundice	ORPHA:95717
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia	OMIM:212138
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608836
Propionic Acidemia	Hepatomegaly, Failure to thrive, Hypoglycemia, Pancreatitis	OMIM:606054
Laron Syndrome	Truncal obesity, Hypoglycemia	ORPHA:633
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Pulmonary hypoplasia, Elevated circulating glutaric acid concentration, H...	OMIM:231680
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Hypertriglyceridemi...	OMIM:619573
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti...	ORPHA:254361
Letterer-Siwe Disease	Seborrheic dermatitis, Dyspnea, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytop...	OMIM:246400
Tropical Endomyocardial Fibrosis	Orthopnea, Increased circulating interleukin 6 concentration, Eosinophilia, Dyspnea, Splenomegaly...	ORPHA:75565
Glutaric Acidemia I	Choreoathetosis, Hepatomegaly, Failure to thrive, Hypoglycemia	OMIM:231670
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Decr...	ORPHA:221139
19P13.12 Microdeletion Syndrome	Cryptorchidism, Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Fanconi Anemia, Complementation Group F	Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:603467
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia, Small for gestational age, Truncal ataxia, Gait ataxia	OMIM:616817
Timothy Syndrome	Hypoglycemia, Hypothermia	OMIM:601005
Smith-Kingsmore Syndrome	Umbilical hernia, Hypoglycemia, Large for gestational age	OMIM:616638
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro...	ORPHA:88
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi...	ORPHA:348
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Anemia	ORPHA:298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Riddle Syndrome	Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Neonatal asphyxia, R...	ORPHA:420741
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia	OMIM:210200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Hepatosplenomegaly, Ulcerative ...	ORPHA:171
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Failure to thrive, Hypoglycemia, Pancreatitis	OMIM:251000
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Niemann-Pick Disease, Type C1	Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells	OMIM:257220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepatocellular adenoma, ...	ORPHA:79259
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Ataxia, Hypoinsulinemia, Hypoglycemia	ORPHA:453533
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice	ORPHA:199296
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Inability to walk,...	ORPHA:26791
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Neonatal hypoglycemia	OMIM:606407
Houge-Janssens Syndrome 1	Hypoglycemia, Gait ataxia	OMIM:616355
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,...	ORPHA:20
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Hypoglycemia, Elbow contracture	OMIM:620275
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep...	ORPHA:1855
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect...	OMIM:210900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Hypoglycemia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Contracture o...	ORPHA:457279
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno...	ORPHA:221
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly...	ORPHA:98908
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte...	OMIM:619487
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:227810
Silver-Russell Syndrome 1	Small for gestational age, Fasting hypoglycemia, Hepatocellular carcinoma	OMIM:180860
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Umbilical hernia, Large for gestational age, Hypothermia, Prolonged neonatal jaundice	ORPHA:226313
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypothermia, Aggressive behavior, Unst...	ORPHA:17
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Proprotein Convertase 1/3 Deficiency	Obesity, Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Gait disturbance, Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In...	OMIM:619377
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis, Hypermethioninemia, Hyperhomocystinemia	OMIM:236200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Hypothermia, Overweight, ...	ORPHA:26793
Cushing Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Leukocytosis, R...	ORPHA:96253
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:246450
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre...	ORPHA:189427
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Elevated circulating creatinine concentration, Normochro...	ORPHA:247691
D-Glyceric Aciduria	Failure to thrive, Tongue thrusting, Hypoglycemia	OMIM:220120
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis	OMIM:230600
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegal...	OMIM:615846
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Hennekam-Beemer Syndrome	Mastocytosis, Pneumonia, Respiratory insufficiency	ORPHA:2135
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati...	ORPHA:280365
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosi...	ORPHA:94093
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Gaucher Disease, Type Ii	Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm...	OMIM:230900
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Ataxia, Hypoglycemia	OMIM:616113
Bronchial Neuroendocrine Tumor	Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho...	ORPHA:97287
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Cholelithiasis, Aggressive behavior, Obesity, Hepatosplenomegaly, Cho...	OMIM:301066
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Thrombocytopenia, Recurrent pneumon...	OMIM:251260
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ataxia, Hypoglycemia, Oral-pharyngeal dysphagia, Gait ataxia, Gait...	OMIM:616878
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Pyruvate Carboxylase Deficiency	Hepatomegaly, Failure to thrive, Ataxia, Hypoglycemia, Anorexia, Tip-toe gait, Abnormal temper ta...	ORPHA:3008
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Dyspnea, Emphysema, Iridocyclitis, Bronchiectasis, Abnormal pulmonary...	OMIM:181000
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Spleno...	OMIM:608779
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Hypothermia	OMIM:614498
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia	OMIM:614736
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia, Hypothermia	ORPHA:230
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Tip-toe gait, Diffuse hepatic steatosis, Chronic hepat...	ORPHA:746
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent...	ORPHA:333
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti...	ORPHA:431361
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Abnormal isohemagglutinin level...	ORPHA:99843
Reni Syndrome	Ataxia, Hypoglycemia	OMIM:617575
Viss Syndrome	Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothorax, Hypereosinophilia, Atopic dermatitis, I...	OMIM:619472
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Ataxia, Cholangitis, Hypoglycemia, Microvesicular hepatic steatosi...	OMIM:124000
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Isolated Complex I Deficiency	Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Failure to thrive	ORPHA:2609
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ataxia, Hypoglycemia, Hypoglycemic seizures, Dysphagia	ORPHA:480864
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function	OMIM:618835
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased liver function	OMIM:618839
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatocellular c...	OMIM:232200
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Tenorio Syndrome	Gait disturbance, Hypoinsulinemia, Hypoglycemia	OMIM:616260
Familial Thyroid Dyshormonogenesis	Umbilical hernia, Hypothermia, Prolonged neonatal jaundice	ORPHA:95716
Leigh Syndrome	Failure to thrive, Multiple joint contractures, Ataxia, Hypoglycemia, Choreoathetosis, Athetosis,...	ORPHA:506
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Combined Oxidative Phosphorylation Defect Type 39	Loss of ambulation, Tip-toe gait, Neonatal hypoglycemia, Congenital foot contractures	ORPHA:565624
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Failure to thrive	OMIM:202200
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Sotos Syndrome	Aggressive behavior, Increased body weight, Glucose intolerance, Attention deficit hyperactivity ...	OMIM:117550
Mitochondrial Trifunctional Protein Deficiency 2	Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a...	OMIM:620300
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Abnormal pulmonary interstitial...	OMIM:613658
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia, He...	ORPHA:2959
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypoch...	ORPHA:66634
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan...	OMIM:616263
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia	OMIM:614654
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia	OMIM:618838
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype...	ORPHA:769
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Failure to thrive, Hypoglycemia	OMIM:607143
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem...	OMIM:276700
Aromatase Deficiency	Macroorchidism, postpubertal, Cryptorchidism, Hyperlipidemia, Hepatic steatosis	ORPHA:91
Menkes Disease	Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Prolonged neonatal...	ORPHA:565
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Japanese Encephalitis	Respiratory distress, Irregular respiration, Hyponatremia, Neutrophilia, Increased circulating Ig...	ORPHA:79139
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Aggressive behavior, Dysmetria, Athetosis, Difficulty walking, Dysphagia, Neonatal hypogl...	ORPHA:572798
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypothermia, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity	OMIM:618493
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Joint contracture, Failure to thrive, Hypoglycemia	OMIM:618005
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Orthostatic Hypotension 1	Intermittent hypothermia, Neonatal hypoglycemia	OMIM:223360
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Choreoathetosis, Athetosis, Inability to walk by childhood/adolescence, Hypoglycemia	OMIM:620224
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Failure to thrive, Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Hepatic failure, Hypoglycemia	OMIM:619355
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hep...	OMIM:232220
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D...	ORPHA:404454
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I...	ORPHA:68
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Oculodentodigital Dysplasia	Ataxia, Camptodactyly of finger, Abnormal dental enamel morphology, Hypoglycemia, Gait disturbanc...	ORPHA:2710
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Cyanosis, Ataxia, Hypoglycemia, Splenomegaly, Hepatic failure	OMIM:252010
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia	ORPHA:436271
Pituitary Stalk Interruption Syndrome	Failure to thrive, Hypoglycemia	ORPHA:95496
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Hypoglycemia, Hypothermia, Jaundice, Failure to thrive	ORPHA:79282
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Familial Glucocorticoid Deficiency	Ketotic hypoglycemia, Anorexia, Hypoglycemic seizures, Weight loss, Failure to thrive	ORPHA:361
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Splenomegaly, Hepatosplenomegaly, Pulmonary arterial hypertension, Histiocytosis	OMIM:602782
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti...	ORPHA:354
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Pituitary Hormone Deficiency, Combined, 6	Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Bannayan-Riley-Ruvalcaba Syndrome	Lipoma, Hypoglycemia, Cachexia	ORPHA:109
Cerebral Visual Impairment	Neonatal hypoglycemia, Attention deficit hyperactivity disorder	ORPHA:447788
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Umbilical hernia, Hypoglycemia	OMIM:614501
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia	ORPHA:813
Monosomy 13Q34	Hepatic steatosis, Hypercalcemia	ORPHA:96168
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp...	ORPHA:99826
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Small cell lung...	ORPHA:99889
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru...	OMIM:229600
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
Multiple Endocrine Neoplasia, Type I	Insulinoma, Hypoglycemia, Pancreatic islet cell adenoma, Subcutaneous lipoma	OMIM:131100
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, E...	ORPHA:99829
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Perlman Syndrome	Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy...	OMIM:267000
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi...	OMIM:613177
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop...	OMIM:219700
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, Umbilical her...	ORPHA:90674
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Hypothermia, Overweight, Prolonged neonatal jaundice, Umbilical hernia	ORPHA:226307
Chops Syndrome	Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu...	OMIM:616368
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Alg12-Cdg	Elevated hepatic transaminase, Recurrent hypoglycemia, Abnormal adipose tissue morphology, Campto...	ORPHA:79324
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210210
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood...	ORPHA:79404
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Hypoglycemia	OMIM:616007
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin...	OMIM:615356
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Recurren...	ORPHA:508
Genetic Transient Congenital Hypothyroidism	Umbilical hernia, Hypothermia, Prolonged neonatal jaundice	ORPHA:226316
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Jaundice, Failure to thrive, Hypoglycemia	ORPHA:90790
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa...	OMIM:220110
Acute Liver Failure	Elevated hepatic transaminase, Ataxia, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepat...	ORPHA:90062
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Ataxia, Fasting hypoglycemia, Dysphagia	ORPHA:25
Acute Adrenal Insufficiency	Salt craving, Hypoglycemia, Anorexia, Weight loss, Failure to thrive	ORPHA:95409
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Small for gestational age, Hypothermia	OMIM:618775
Meningococcal Meningitis	Hypothermia, Anorexia	ORPHA:33475
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Abnormal lung lobation, Cholestatic liver disease, Hy...	OMIM:270400
Holoprosencephaly	Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congenital diaphragma...	ORPHA:2162
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ataxia, Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosi...	OMIM:220111
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hypoglycemia	OMIM:615751
Histiocytoid Cardiomyopathy	Hepatomegaly, Failure to thrive, Cyanosis, Hypoglycemia	ORPHA:137675
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis	OMIM:300219
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis	OMIM:301072
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Hypothermia, Flexion contracture, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait distur...	ORPHA:99027
Alexander Disease	Diabetes mellitus, Ataxia, Hypothermia, Self-injurious behavior, Gait disturbance, Dysphagia, Fai...	ORPHA:58
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hepatic failure, Hepatic calcification, Hypoketotic hypoglycemia	ORPHA:157
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure	ORPHA:330021
Mucopolysaccharidosis, Type Vi	Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de...	OMIM:253200
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He...	ORPHA:728
Simpson-Golabi-Behmel Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia...	ORPHA:373
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly	ORPHA:309282
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia	OMIM:610768
Menkes Disease	Hypothermia	OMIM:309400
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Insulin resistance, Fasting hypoglycemia, Oral aversion, Failure to th...	ORPHA:96182
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines	OMIM:612132
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio...	ORPHA:258
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Congenital diaphragmatic hernia, Large ...	ORPHA:116
Cholera	Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ...	ORPHA:173
Gm1 Gangliosidosis Type 1	Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Degcags Syndrome	Pancytopenia, Chronic lung disease, Pneumonia, Congenital hypoplastic anemia, Asthma, Hepatosplen...	OMIM:619488
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma	OMIM:232240
Cornelia De Lange Syndrome 1	Pneumonia, Thrombocytopenia, Otitis media	OMIM:122470
Addison Disease	Salt craving, Hypoglycemia, Anorexia, Weight loss, Type I diabetes mellitus, Failure to thrive	ORPHA:85138
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia	ORPHA:469
Hypothyroidism Due To Tsh Receptor Mutations	Umbilical hernia, Hypothermia, Prolonged neonatal jaundice	ORPHA:90673
Niemann-Pick Disease Type C	Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato...	ORPHA:646
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Deeah Syndrome	Hepatomegaly, Dysphagia, Decreased body weight, Self-mutilation, Neonatal hypoglycemia, Exocrine ...	OMIM:619004
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Kabuki Syndrome 2	Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Ogden Syndrome	Microvesicular hepatic steatosis, Pulmonary artery stenosis, Jaundice, Thrombocytopenia, Cryptorc...	OMIM:300855
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Cyanosis, Hypothermia, Aggressive behavior, Obesity, Self-injuriou...	ORPHA:293987
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Ataxia, Hypothermia, Gait ataxia, Dysphagia, Hepatic failure	ORPHA:255210
Sheehan Syndrome	Hypoglycemia, Obesity	ORPHA:91355
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Macro...	OMIM:619127
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Atelectasis, Thrombocytopenia, Che...	ORPHA:534
Pituitary Apoplexy	Hypoglycemia	ORPHA:95613
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:269860
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Upper airway obstr...	ORPHA:581
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Leukocytosis, Hepatic steatosis, Decreased testicular size	OMIM:619321
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
Glycerol Kinase Deficiency	Small for gestational age, Hypoglycemia, Chronic pancreatitis	OMIM:307030
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Neonatal hypoglycemia	ORPHA:90791
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Jaundice, Hepatitis, Chole...	ORPHA:198
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration...	ORPHA:1018
Digeorge Syndrome	Impaired T cell function, Atelectasis, Splenomegaly, Recurrent pneumonia, Thrombocytopenia, Hydro...	OMIM:188400
Atypical Werner Syndrome	Hypertriglyceridemia, Neoplasm of the lung, Abnormality of the pulmonary artery, Hepatic steatosi...	ORPHA:79474
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Ethylene Glycol Poisoning	Addictive alcohol use, Cyanosis, Ataxia, Hypothermia	ORPHA:31826
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia	OMIM:619167
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration	OMIM:300868
Plague	Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Ente...	ORPHA:707
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Jaundice, Hepatic steatosis, Hyperbilirubinemia	OMIM:619475
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Failure to thrive, Neonatal hypoglycemia, Dysphagia	OMIM:617248
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
22Q11.2 Deletion Syndrome	Acne, Seborrheic dermatitis, Splenomegaly, Atelectasis, Asthma, Abnormal lung lobation, Chronic p...	ORPHA:567
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Gait ataxia, Difficulty walking, Slender build, Neonatal hypoglycemia	ORPHA:457359
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Elevated circulating creatine kinase concentration, Respiratory ...	ORPHA:365
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Fasciitis, Impulsivity, Hypothermia, Corneal scarring, Atypical scarr...	ORPHA:642
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Pancreatic hyperplasia, Hepatoblastoma, Neonatal hypoglycemia	OMIM:130650
Tbck-Related Intellectual Disability Syndrome	Inability to walk, Hypothermia	ORPHA:488632
Marshall-Smith Syndrome	Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art...	OMIM:602535
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Neonatal hypoglycemia	OMIM:261740
Primary Fanconi Renotubular Syndrome	Weight loss, Hypoglycemia, Glycosuria	ORPHA:3337
Costello Syndrome	Achilles tendon contracture, Failure to thrive, Hypoglycemia	OMIM:218040
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
1P36 Deletion Syndrome	Abnormality of the spleen, Cryptorchidism, Abnormality of the liver, Annular pancreas, Hepatic st...	ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci...	ORPHA:881
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Portal hypertension, Cryptorchidism, Cholestasis, Hepatosplenomegaly, Hypocalce...	OMIM:619503
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Neonatal hypoglycemia	ORPHA:168558
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Hypertriglyceridemia, Hypoplasia of the thymus, Pneumonia	OMIM:264090
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Neonatal hypoglycemia	ORPHA:289548
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Aspiration pneumonia, Anemia	ORPHA:438213
Generalized Glucocorticoid Resistance Syndrome	Hypoglycemia	ORPHA:786
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypertriglyceridemia, Hepatic steatosis	ORPHA:3455
Alström Syndrome	Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hyperte...	ORPHA:64
Doors Syndrome	Respiratory distress, Thrombocytosis, Aspiration pneumonia	ORPHA:79500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive, Neonatal hypoglycemia, Hypocapnia	ORPHA:90794
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease	ORPHA:444077
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Hypothermia	OMIM:218700
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia	ORPHA:1465
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small for gestational age, Joint contracture of the hand, Hypoglycemia, Camptodactyly	OMIM:201750
Neurooculorenal Syndrome	Recurrent hypoglycemia	OMIM:620305
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Asthma, Pneumonia, Otitis media	ORPHA:353281
Kabuki Syndrome 1	Recurrent otitis media, Hemolytic anemia, Recurrent aspiration pneumonia, Autoimmune thrombocytop...	OMIM:147920
Sotos Syndrome	Hip contracture, Inguinal hernia, Ankle flexion contracture, Aggressive behavior, Bilateral campt...	ORPHA:821
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration	ORPHA:353277
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:220386
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Chand Syndrome	Atelectasis	ORPHA:1401
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Pmm2-Cdg	Respiratory distress, Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, Aspiratio...	ORPHA:79318
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia	OMIM:216340

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 Abcg1

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 Abcg1.

No publications found that use IMPC mice or data for Abcg1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Abcg1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Abcg1^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Abcg1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Abcg1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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