Gene: Ccl2 MGI:98259

Registered for phenotyping at IMPC

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

Gene Summary

Name:

C-C motif chemokine ligand 2

Synonyms:

MCP1, monocyte chemoattractant protein-1, HC11, Scya2, MCP-1, monocyte chemotactic protein, SMC-CF, Sigje, MCAF

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 Ccl2 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 Ccl2 (1 diseases)
Human diseases predicted to be associated with Ccl2 (1273 diseases)

The table below shows human diseases associated to Ccl2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neural Tube Defects, Susceptibility To		Lipoma, Multiple lipomas	OMIM:182940

The table below shows human diseases predicted to be associated to Ccl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency 24	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Recurrent viral ...	OMIM:615897
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased a...	ORPHA:435660
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly...	OMIM:615238
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut...	ORPHA:435651
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ...	OMIM:615401
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Transient Neonatal Diabetes Mellitus	Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie...	ORPHA:99886
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Reduced subcutaneous...	ORPHA:280356
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H...	ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula...	ORPHA:411593
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the...	ORPHA:280365
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu...	ORPHA:324575
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Immune Thrombocytopenia	Platelet antibody positive	OMIM:188030
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ...	OMIM:617514
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi...	OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ...	OMIM:606762
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Autoimmune Lymphoproliferative Syndrome	Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni...	OMIM:601859
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ...	ORPHA:276580
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ...	ORPHA:293964
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu...	ORPHA:363400
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag...	OMIM:615214
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Immunodeficiency 15B	Reduced natural killer cell count, Agammaglobulinemia, Monocytosis, Recurrent infections, Decreas...	OMIM:615592
Papular Xanthoma	Histiocytosis	ORPHA:158008
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ...	ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Reactive hypoglycemi...	ORPHA:35878
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s...	ORPHA:528
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi...	ORPHA:552
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni...	OMIM:603909
Immunodeficiency 27A	Hypoalbuminemia, Rheumatoid factor positive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sp...	OMIM:209950
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Reduce...	OMIM:619281
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec...	ORPHA:2688
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Obesity Due To Sim1 Deficiency	Obesity, Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia	ORPHA:329249
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra...	OMIM:618944
Obesity And Hypopigmentation	Obesity, Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertrigl...	OMIM:617885
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th...	ORPHA:277
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Soma...	ORPHA:206594
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r...	OMIM:300635
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Immunodeficiency 20	Reduced natural killer cell count, BCGitis, Recurrent otitis media, Reduced natural killer cell a...	OMIM:615707
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt...	ORPHA:169079
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge...	ORPHA:276556
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Cerebral cortical atrophy, Periodontitis, Neutrophilia, Compuls...	OMIM:266265
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Failure to thrive sec...	ORPHA:169160
Immunodeficiency 32B	Hypoalbuminemia, Recurrent infections, Pneumonia, BCGitis, Impaired oxidative burst, Abnormal cir...	OMIM:226990
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve...	OMIM:614470
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia	OMIM:618406
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepa...	ORPHA:79237
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia, Flexion contracture	OMIM:618856
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Neurodegeneration, Abnormal dense granules, Neutropenia, Ataxia,...	OMIM:214500
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Conical tooth, Osteopenia, Increased circulating IgE level, Decr...	ORPHA:98813
Coffin-Lowry Syndrome	Self-injurious behavior, Optic atrophy, Craniofacial hyperostosis, Hypoplasia of the maxilla, Nar...	ORPHA:192
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Natal tooth, Delayed eruption of teeth, Cerebellar atrophy, Cerebellar vermis atro...	OMIM:614381
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty...	OMIM:619326
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc...	OMIM:300400
Perlman Syndrome	Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femoral hernia	ORPHA:2849
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level, Neutropenia, Gingivitis, Premature loss of t...	OMIM:162700
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia	OMIM:601410
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ...	ORPHA:276
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Neuromus...	ORPHA:171442
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Lymphopenia, Increased circulating IgA level, Neutropenia, Eclabion	OMIM:616395
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline...	ORPHA:79086
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit...	OMIM:620632
Immunodeficiency 10	Decreased circulating IgG level, Hypoplasia of the iris, Decreased circulating IgA level, Autoimm...	OMIM:612783
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ...	OMIM:613495
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Rheumatoid factor positive, Lymphopenia, Leukopenia, Cytoplasmic antineu...	OMIM:615934
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ...	OMIM:601457
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp...	OMIM:614172
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Cerebral cortical atrophy, Downturned corners of mouth, Widely spaced teeth, Stereotypical body r...	OMIM:617865
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H...	ORPHA:263455
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H...	OMIM:613327
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal a...	OMIM:619473
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Immunodeficiency 69	Hemophagocytosis, BCGitis, Increased circulating ferritin concentration, Hepatosplenomegaly, Panc...	OMIM:618963
Senior-Loken Syndrome 4	Anemia, Polydipsia, Rod-cone dystrophy	OMIM:606996
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos...	ORPHA:331206
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:248370
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Retinal pigment epithelial mottling, Retinopathy, Myopathy, Rod-cone dystrophy, Corticosp...	OMIM:551500
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Pigmentary retinopathy, Skeletal muscle atrophy, Cardiomyop...	ORPHA:329336
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell function, Lymphom...	OMIM:240500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Tick-Borne Encephalitis	Skeletal muscle atrophy, Somatic sensory dysfunction, Leukopenia, Abnormal circulating cytokine c...	ORPHA:297
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4...	ORPHA:443811
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida...	ORPHA:217390
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Congestive heart failure, Hypertrophic cardiomyopathy, Splenome...	ORPHA:2348
Mpi-Cdg	Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertension, Hypothyroidis...	ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin...	OMIM:608594
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,...	OMIM:608898
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc...	OMIM:243700
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral cortical atrophy, Ankle flexion contracture, Global brain atrophy, Natal tooth, Cerebell...	OMIM:617802
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m...	ORPHA:2585
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Cerebellar atrophy, Cerebral atrophy, Polymicrogyria	OMIM:618973
Hallermann-Streiff Syndrome	Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Telangiectasia, Everted lower li...	OMIM:234100
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i...	OMIM:300299
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Micrognathia, Open mouth, Irregular dentition, Gingival ove...	OMIM:619148
Pediatric-Onset Graves Disease	Polydipsia, Sinus tachycardia, Congestive heart failure, Palpitations, Autoimmunity, Splenomegaly...	ORPHA:525731
Ceroid Lipofuscinosis, Neuronal, 7	Mental deterioration, Pigmentary retinopathy, Optic atrophy, Cerebellar atrophy, Cerebral atrophy...	OMIM:610951
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Igg4-Related Pachymeningitis	Mental deterioration, Abnormality of cervical plexus, Abnormal optic nerve morphology, Lower limb...	ORPHA:449427
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Polydipsia, Dental crowding, Cardiomyopathy, Premature graying of h...	ORPHA:769
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Increased circu...	OMIM:618495
Immunodeficiency 23	Ataxia, Somatic sensory dysfunction, Rheumatoid factor positive, Increased circulating IgE level,...	OMIM:615816
4H Leukodystrophy	Mental deterioration, Optic atrophy, Abnormality of the dentition, Cerebellar atrophy, Delayed er...	ORPHA:289494
Bardet-Biedl Syndrome 9	Polydipsia, Attenuation of retinal blood vessels, Retinal degeneration, Polyphagia, Bone spicule ...	OMIM:615986
Eosinophilopenia	Autoimmunity	OMIM:131430
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Cognitive impairment, Rod-cone dystrophy, Ataxia	ORPHA:1178
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia	OMIM:610947
Nephronophthisis 9	Anemia, Polydipsia, Retinal degeneration	OMIM:613824
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Spinocerebellar Ataxia 7	Mental deterioration, Pigmentary retinopathy, Macular degeneration, Optic atrophy, Chorea, Dysmet...	OMIM:164500
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor...	ORPHA:2126
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Myopathy, Ataxia	ORPHA:2579
Vici Syndrome	Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive help...	OMIM:242840
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ...	ORPHA:35078
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment, Ataxia	ORPHA:2246
Kleefstra Syndrome	Self-injurious behavior, Cerebral cortical atrophy, Mandibular prognathia, Downturned corners of ...	ORPHA:261494
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Pigmentary retinopathy, Distal amyotrophy, Leg muscle stiffness, Up...	ORPHA:100996
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin...	OMIM:269700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Recurren...	OMIM:300853
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:615122
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, H...	OMIM:602579
Kleine-Levin Syndrome	Transient global amnesia, Polydipsia, Confusion, Abnormal eating behavior, Sweet craving, Polypha...	ORPHA:33543
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Torticollis, Arthrogryposis multiplex congenita, Cleft...	OMIM:217150
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Small for ...	OMIM:618857
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Micrognathia, Open mouth, Everted lower lip vermilion, Overjet, High palate, Motor stereotypy, Sh...	OMIM:618342
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Eos...	OMIM:617237
Boutonneuse Fever	Vasculitis, Leukopenia, Thrombocytopenia, Increased circulating IgG level, Increased circulating ...	ORPHA:83313
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoim...	ORPHA:444463
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent viral infections, Lymphopenia, Recurrent lower respiratory tract infectio...	OMIM:613179
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegaly, Antinuc...	OMIM:617388
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Malar flatte...	OMIM:610253
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Rift Valley Fever	Gingival bleeding, Macular edema, Anorexia, Retinal vasculitis, Retinitis, Anemia, Hematemesis, T...	ORPHA:319251
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Distal amyotrophy, Central heterochromia, Retinal degeneration	OMIM:275400
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Abnormality of retinal pigmentation, Malar flattening, Abnormal pala...	ORPHA:1390
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Chronic sinusitis, Agammaglobul...	OMIM:613502
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Aplastic anemia, Leukemia, Periodontitis, Lymphopenia, Rec...	ORPHA:486
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent sinusitis, Complete or near-com...	OMIM:613494
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Neutropenia, Ataxia, Hemolytic anemia, Intention tremor	OMIM:266130
Bardet-Biedl Syndrome 17	Polydipsia, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the retin...	OMIM:615994
Nephronophthisis	Anemia, Abnormality of retinal pigmentation	ORPHA:655
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B lymphocytopenia, Colit...	OMIM:619164
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Generalized dystonia, Cerebellar vermis ...	OMIM:619389
Simple Cryoglobulinemia	Progressive neurologic deterioration, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastro...	ORPHA:91139
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma	ORPHA:542592
Leishmaniasis	Hypoalbuminemia, Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Abnormal macrophage m...	ORPHA:507
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia...	OMIM:616329
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Zika Virus Disease	Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Splenomegaly, Advance...	ORPHA:1133
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ...	OMIM:252011
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis	OMIM:618858
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Downturned corners of mouth, Abnormal mandible morphology, Long philtrum...	ORPHA:2215
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc...	ORPHA:785
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Anorexia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage...	ORPHA:99827
Autoimmune Hepatitis	Antineutrophil antibody positivity, Gastrointestinal hemorrhage, Spider hemangioma, Vitiligo, Spl...	ORPHA:2137
Immunoglobulin A Deficiency 2	Autoimmunity	OMIM:609529
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Chilblain Lupus	Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Increased circulating antibody lev...	ORPHA:90280
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phosph...	OMIM:620565
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos...	OMIM:616871
Cystinosis	Polydipsia, Rickets, Portal hypertension, Retinopathy, Myopathy, Motor stereotypy	ORPHA:213
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Pul...	OMIM:614857
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Bone marrow hypocellularity, H...	OMIM:301078
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age	OMIM:606176
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Lead Poisoning	Abnormality of humoral immunity, Memory impairment, Delayed eruption of teeth, Imbalanced hemoglo...	ORPHA:330015
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Dystonia, Dysphagia	OMIM:264470
Multiple Mitochondrial Dysfunctions Syndrome 5	Pachygyria, Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617613
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm...	ORPHA:83471
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell functi...	OMIM:607594
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation, Non-midline cleft of the upper lip	ORPHA:1995
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Third degree atrioventricular block, Abnormality of retinal pigmentation...	ORPHA:480
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Liberfarb Syndrome	Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Bone ...	OMIM:618889
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Immunodeficiency 61	Decreased circulating IgG2 level, Recurrent sinusitis, Attention deficit hyperactivity disorder, ...	OMIM:300310
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Cerebral cortical atrophy, Delayed eruption of teeth, Autonomic bladder dysfunctio...	ORPHA:447896
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Cerebral cortical atrophy, Pigmentary retinopathy, Reduced musc...	ORPHA:370968
Whipple Disease	Ataxia, Hypotension, Gastrointestinal hemorrhage, Polydipsia, Generalized hyperpigmentation, Sple...	ORPHA:3452
Cofs Syndrome	Optic atrophy, Cerebral cortical atrophy, Camptodactyly of finger, Micrognathia, Abnormality of r...	ORPHA:1466
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Sotos Syndrome	High, narrow palate, Narrow palate, Narrow jaw, Aggressive behavior, Attention deficit hyperactiv...	OMIM:117550
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Downturned corners of mouth, Enamel hypoplasia, Neutropenia, Dec...	ORPHA:2643
Dystonia 31	Abnormal posturing	OMIM:619565
Nephronophthisis 11	Anemia, Anisocoria, Polydipsia, Retinal degeneration	OMIM:613550
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Natal tooth, Dental malocclusion, Thick vermilion border, Mandibula...	OMIM:601957
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Dysosteosclerosis	Optic atrophy, Osteopenia, Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Faci...	OMIM:224300
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cerebral atrophy, Abnormality of retinal pigmentation, Retinal detachment, Abnormal...	OMIM:251270
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Severe viral infection, Hemophagocytosis, Pulmonary hemorrhage, Hepatospleno...	OMIM:619644
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat...	ORPHA:75376
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Optic atrophy, Microglossia, Long philtrum, Tooth agenesis, Abnormal den...	ORPHA:818
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Atten...	OMIM:618761
Otodental Syndrome	Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo...	ORPHA:2791
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Brucellosis	Arteritis, Hypersplenism, Anorexia, Elevated circulating C-reactive protein concentration, Granul...	ORPHA:1304
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Aphthous...	OMIM:615767
Type 1 Diabetes Mellitus	Polyphagia, Autoimmunity, Polydipsia	OMIM:222100
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ...	OMIM:615954
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Increased proportion of CD25+ mast cells, Hepatosplenom...	ORPHA:98850
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Dilated cardiomyopathy, Cognitive impairment, High, narrow p...	ORPHA:2515
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Cardiomyopathy	OMIM:609016
Anti-Glomerular Basement Membrane Disease	Vasculitis, Persistence of primary teeth, Autoimmunity, Retinal detachment, Anemia	ORPHA:375
Helsmoortel-Van Der Aa Syndrome	Carious teeth, Ankyloglossia, Mitral regurgitation, Polyphagia, Everted lower lip vermilion, Dysp...	OMIM:615873
Wolfram Syndrome	Optic atrophy, Gastrointestinal hemorrhage, Cerebral cortical atrophy, Polydipsia, Cardiomyopathy...	ORPHA:3463
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:158061
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation...	ORPHA:3019
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti...	ORPHA:952
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Cognitive impairmen...	ORPHA:2325
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Lym...	OMIM:301000
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia	OMIM:152800
Angiostrongyliasis	Hyperesthesia, Hypereosinophilia, Paresthesia, Increased circulating specific IgE antibody, Incre...	ORPHA:74
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse...	OMIM:269880
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent...	OMIM:612782
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Bifid uvula, Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central r...	ORPHA:506353
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Hypertensive crisis, Brain abscess, Hemolytic anemi...	ORPHA:544482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Inflammatory abnormality of the skin, Increased circulating IgE level...	OMIM:102700
Systemic Lupus Erythematosus 17	Hypertensive crisis, Myelitis, Lymphopenia, Leukopenia, Malar rash, Mitral regurgitation, Optic n...	OMIM:301080
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Adnp Syndrome	Abnormal temper tantrums, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Cerebral atrophy,...	ORPHA:404448
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Opportunistic bacterial infection, Pancytopenia, Abnormal T cell subset distrib...	ORPHA:158048
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
C3 Glomerulopathy	Paraproteinemia, Central serous chorioretinopathy, Autoimmunity, Yellow/white lesions of the reti...	ORPHA:329918
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Dubowitz Syndrome	Decreased circulating IgG level, Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, De...	OMIM:223370
Immunodeficiency 33	Conical tooth, Delayed eruption of teeth, Hypodontia, Increased circulating IgA level, Decreased ...	OMIM:300636
Vici Syndrome	Decreased circulating IgG level, Optic atrophy, Hypopigmentation of the skin, Cerebral cortical a...	ORPHA:1493
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ...	OMIM:613470
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera...	ORPHA:508
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Motor stereot...	ORPHA:79264
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology	ORPHA:98848
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Pigmentary retinopathy, Distal amyotrophy, Skeletal muscle ...	ORPHA:3208
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Conical tooth, Hepatosplenomegaly, Chorioretinitis, Complete or ...	OMIM:301081
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, Positive Romberg sign, Mitral regurgitation, Myop...	OMIM:607459
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Aceruloplasminemia	Ataxia, Blepharospasm, Memory impairment, Macular degeneration, Increased circulating ferritin co...	ORPHA:48818
Kleefstra Syndrome Due To A Point Mutation	Self-injurious behavior, Abnormality of the dentition, Natal tooth, Thick lower lip vermilion	ORPHA:261652
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced...	OMIM:617241
Combined Oxidative Phosphorylation Deficiency 54	Periventricular nodular heterotopia, Obesity, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:619737
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Cerebral atrophy, Generalized dystonia, Elevated circulating creatine ...	OMIM:272300
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Ataxia With Vitamin E Deficiency	Mental deterioration, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Abnormality of retina...	ORPHA:96
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Eye poking, Fundus atrophy, Optic d...	OMIM:204100
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Chr...	OMIM:612692
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy	OMIM:619090
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Recurrent infections, Neutrop...	OMIM:620443
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal...	OMIM:614592
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Pigmentary retinopathy, Muscular dystrophy, Left ventricular systolic ...	OMIM:613156
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Arterial occlusion, Pulmonary embolism, Microangiopathic...	ORPHA:464343
Hemochromatosis, Type 4	Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc...	OMIM:606069
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Cleft upper lip, Rhabdomyosarcoma, Neu...	OMIM:251260
Tempi Syndrome	Polycythemia, Increased hematocrit, Telangiectasia, Increased circulating IgG level, Intracranial...	ORPHA:284227
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Abnorma...	ORPHA:1897
Ataxia-Telangiectasia	Lymphopenia, Telangiectasia of the skin, Recurrent respiratory infections, Decreased circulating ...	ORPHA:100
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent...	OMIM:300755
O'Sullivan-Mcleod Syndrome	Upper limb muscle weakness, Hand muscle weakness, Tremor, Increased circulating antibody level, I...	ORPHA:99965
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Distal amyotrophy, Cerebellar atrophy, Decreased motor nerve conduction velocity, Head tremor, Ch...	OMIM:606002
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased proport...	OMIM:615758
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior syn...	ORPHA:91500
Stickler Syndrome	Open bite, Micrognathia, Abnormal vitreous humor morphology, Arrhythmia, Short hard palate, Retin...	ORPHA:828
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ...	ORPHA:2088
Pantothenate Kinase-Associated Neurodegeneration	Mental deterioration, Acanthocytosis, Limb dystonia, Rod-cone dystrophy, Tics, Choreoathetosis, O...	ORPHA:157850
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Dental crowding, Increased circulating IgE level, Eosinophilia, Ma...	OMIM:618523
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Pa...	OMIM:618234
Incontinentia Pigmenti	Hypopigmented skin patches, Retinal detachment, Cognitive impairment, Retinal vascular proliferat...	ORPHA:464
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Dental crowding, Delayed eruption of teeth, Long philtrum, Wide mouth, Obsess...	OMIM:618825
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Retrognathia, Decreased circulating IgA level, B lymphocytopenia...	OMIM:614069
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Ataxia, Hypertension, Abnormality of bone mineral density, R...	ORPHA:3156
Mulibrey Nanism	Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Congestive heart fail...	OMIM:253250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Agammaglob...	OMIM:619705
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Cerebellar atrophy, Delayed eruption of teeth, Long...	OMIM:214150
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Bifid uvula, Narrow palate, Natal tooth, Gingival overgrowth, Narrow mouth, Malar ...	OMIM:123790
Acrocraniofacial Dysostosis	Micrognathia, Advanced eruption of teeth, Craniosynostosis, Short philtrum, Cleft palate	ORPHA:949
Familial Cold Urticaria	Polydipsia, Dysesthesia	ORPHA:47045
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Cerebellar atrophy, Decreased circulating IgA level, Ataxia, Dec...	OMIM:300861
Acrootoocular Syndrome	High, narrow palate, Small hypothenar eminence, Dental malocclusion, Delayed eruption of teeth, P...	ORPHA:2980
Congenital Toxoplasmosis	Anemia, Abnormality of retinal pigmentation, Cognitive impairment, Thrombocytopenia	ORPHA:858
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Self-injurious behavior, Carious teeth, Dental crowding, Abnormal fear-ind...	ORPHA:353281
Tularemia	Brain abscess, Cutaneous abscess, Confusion, Leukocytosis, Oral ulcer, Increased circulating anti...	ORPHA:3392
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Cognitive impairmen...	ORPHA:2026
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Abnormality of the dentition, Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Central Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:178029
East Syndrome	Cerebellar atrophy, Polydipsia, Lower limb muscle weakness, Action tremor, Salt craving, Ataxia, ...	ORPHA:199343
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec...	OMIM:203800
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum...	ORPHA:915
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Hypoproteinemia	ORPHA:1116
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo...	OMIM:609069
Retinitis Pigmentosa	Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia	ORPHA:791
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Retinoblastoma	Hyphema, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retinal pigment...	ORPHA:790
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Malar flattening,...	OMIM:616108
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Premature graying of hair, Microcytic anemia, ...	OMIM:256040
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf...	ORPHA:540
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Anemia, Increased bone mineral density, Increased circula...	ORPHA:37748
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ...	ORPHA:100024
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Optic atrophy, Macular degeneration, Tooth malposition, Carious ...	ORPHA:3132
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Joint contracture of the hand, Skeletal muscle atrophy, Im...	OMIM:609033
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Spinocerebellar Ataxia, Autosomal Recessive 20	Ataxia, Cerebral cortical atrophy, Dental crowding, Delayed eruption of teeth, Long philtrum, Cer...	OMIM:616354
Apparent Mineralocorticoid Excess	Polydipsia, Decreased circulating renin level, Hypertensive retinopathy, Left ventricular hypertr...	ORPHA:320
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Micrognathia, Short attention span, Congeni...	ORPHA:2745
Narp Syndrome	Ataxia, Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuo...	ORPHA:644
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp...	ORPHA:465508
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Eye poking, Optic disc drusen, Fund...	OMIM:204000
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myosi...	OMIM:617591
Cohen Syndrome	High, narrow palate, Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary...	OMIM:216550
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s...	OMIM:269300
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Branchial cyst, Optic disc coloboma, Downturned corners ...	OMIM:620186
Cyclic Neutropenia	Recurrent tonsillitis, Sepsis, Opportunistic infection, Periodontitis, Lymphopenia, Cyclic neutro...	ORPHA:2686
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Optic atrophy, Mac...	ORPHA:505248
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Diarrhea, Impaired memory B cell generation, Hepatitis, Abnormal...	OMIM:308230
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Horner syndrome, Ataxia, Tongue atrophy, Poliosis...	OMIM:141300
Raine Syndrome	Mandibular prognathia, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mout...	OMIM:259775
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Carious teeth, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopo...	OMIM:259710
Sjögren-Larsson Syndrome	Macular degeneration, Abnormal dental enamel morphology, Generalized hyperpigmentation, Abnormali...	ORPHA:816
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypochromic anemia, Increased circulating ferritin concentration, Microcy...	OMIM:600462
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningiti...	ORPHA:90362
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Increased circulating an...	ORPHA:319218
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Generalized Pustular Psoriasis	Hypoalbuminemia, Sepsis, Congestive heart failure, Lymphopenia, Leukocytosis, Hypocalcemia, Palmo...	ORPHA:247353
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Flexio...	ORPHA:2712
Lowry-Maclean Syndrome	Craniosynostosis, Delayed eruption of teeth, Cleft palate, Diaphragmatic eventration	OMIM:600252
Activated Pi3K-Delta Syndrome	Decreased circulating antibody level, Autoimmunity, Splenomegaly, Chronic sinusitis, B lymphocyto...	ORPHA:397596
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circul...	ORPHA:542323
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper l...	OMIM:145420
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Familial Hyperaldosteronism Type Iii	Epistaxis, Polydipsia, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrha...	ORPHA:251274
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, High palate	OMIM:616606
Congenital Rubella Syndrome	Splenomegaly, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Thrombocytopen...	ORPHA:290
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812<

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