Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (1402 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	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections...	OMIM:615897
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:604367
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	ORPHA:280365
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ...	ORPHA:324575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Immunodeficiency 95	Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira...	OMIM:619773
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Chro...	OMIM:615592
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes...	ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins...	ORPHA:171706
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridem...	ORPHA:528
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, EEG with generalized epileptiform discharges, Hy...	ORPHA:35878
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure	ORPHA:369873
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Ceroid Lipofuscinosis, Neuronal, 1	Psychomotor deterioration, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lym...	OMIM:256730
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Increased neuronal autofluorescent lipopigment, Increased extraneurona...	OMIM:204200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:151660
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Immunodeficiency 27A	Rheumatoid factor positive, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased c...	OMIM:209950
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic...	ORPHA:277
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythrode...	ORPHA:169160
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect...	OMIM:300635
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia, Decreased circulating ant...	ORPHA:99811
Immunodeficiency 32B	Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope...	OMIM:226990
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancrea...	OMIM:246200
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Distal lower limb amyotrophy, Distal sensory impairment, Macular degeneration, Distal upper limb ...	OMIM:619764
Immunodeficiency 44	Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu...	OMIM:616636
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Hypsarrhythmia	OMIM:618856
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ...	ORPHA:276556
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Periodontitis, Compulsive behaviors, Reduction of neutrophil motility, Cerebral cor...	OMIM:266265
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Hyperinsul...	ORPHA:79237
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Chediak-Higashi Syndrome	Tremor, Gingivitis, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmen...	OMIM:214500
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Delayed eruption of teeth, Natal tooth, Dystonia, Ataxia, Tremor, Optic atrop...	OMIM:614381
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Autoimmunity, Abnormal immunoglobulin level, Conical tooth, Increased T cell count, I...	ORPHA:98813
Coffin-Lowry Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Skeletal muscle atrophy, Craniofa...	ORPHA:192
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte...	OMIM:256731
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Neutropenia, Chronic Familial	Gingivitis, Increased circulating antibody level, Periodontitis, Neutropenia, Premature loss of t...	OMIM:162700
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Trichothiodystrophy 3, Photosensitive	Natal tooth, Increased circulating IgA level, Carious teeth, Neutropenia, Eclabion, Lymphopenia	OMIM:616395
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Adult-Onset Nemaline Myopathy	Micrognathia, Flexion contracture, Paraproteinemia, Neuromuscular dysphagia, Increased muscle lip...	ORPHA:171442
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Degeneration of the lateral corticospinal...	OMIM:604360
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho...	OMIM:601457
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu...	ORPHA:79086
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the...	OMIM:243700
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Recu...	OMIM:618261
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Distal amyotrophy, Retinal degeneration, Central heterochromia	OMIM:275400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Increased circulating IgG l...	ORPHA:2298
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, EEG abnormality, Increased circulating co...	ORPHA:1227
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positi...	OMIM:615934
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Ataxia, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body ro...	OMIM:617865
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, De...	OMIM:619510
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas...	ORPHA:263455
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:248370
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper...	OMIM:613101
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent...	OMIM:619473
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I...	OMIM:613327
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Hsd10 Mitochondrial Disease	Restlessness, Progressive neurologic deterioration, Aggressive behavior, Optic atrophy, Choreoath...	OMIM:300438
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Senior-Loken Syndrome 4	Polydipsia, Rod-cone dystrophy, Anemia	OMIM:606996
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me...	OMIM:613179
Immunodeficiency, Common Variable, 2	Impaired T cell function, Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conj...	OMIM:240500
Ceroid Lipofuscinosis, Neuronal, 6A	Motor deterioration, Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Psychomotor deterioration, Skeletal muscle atrophy, Deficit in phonologic short-term memory, Abno...	ORPHA:329336
Tick-Borne Encephalitis	Skeletal muscle atrophy, Somatic sensory dysfunction, Facial palsy, Anorexia, Elevated circulatin...	ORPHA:297
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati...	OMIM:608594
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Cln3 Disease	Cerebellar atrophy, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, ...	ORPHA:228346
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l...	OMIM:204500
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent pneumonia, Decreased proportion of CD4-positive helper...	OMIM:615518
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au...	OMIM:616100
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun...	ORPHA:3261
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, ...	ORPHA:443811
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Abnormality of skeletal muscle fiber size, Abnormality of complement system, Conges...	ORPHA:2348
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h...	ORPHA:79319
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Natal tooth, Ankle flexion contracture, Micrognathia, Cerebral atrophy, Dysph...	OMIM:617802
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Aggres...	OMIM:619148
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Decreased circulating IgG level, Polymicrogyria, Cerebral atrophy	OMIM:618973
Spinocerebellar Ataxia 7	Tremor, Chorea, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressi...	OMIM:164500
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Choreoathetosis, High palate, Chorio...	OMIM:234100
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener...	OMIM:610951
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Polydipsia, Rod-cone dystrophy, Polyphagia, Retinal dege...	OMIM:615986
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Autoimmunity, Craniosynostosis, Tremor, Splenomegaly, Congest...	ORPHA:525731
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Igg4-Related Pachymeningitis	Somatic sensory dysfunction, Sinusitis, Eosinophilia, Elevated circulating C-reactive protein con...	ORPHA:449427
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Increased circulating IgG level, Decreas...	OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Retinal pigment epithelial mottling, Myopathy, Dementia, Corticospinal tract atrophy, Rod...	OMIM:551500
Kleine-Levin Syndrome	Parageusia, Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, H...	ORPHA:33543
Diabetes Mellitus, Permanent Neonatal, 3	Small for gestational age, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus...	OMIM:618857
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Cognitive impairment	ORPHA:1178
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
4H Leukodystrophy	Cerebellar atrophy, Delayed eruption of teeth, Dystonia, Ataxia, Abnormality of the dentition, Tr...	ORPHA:289494
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati...	OMIM:269700
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Abnormality of the dentition	OMIM:251700
Vici Syndrome	Elevated circulating creatine kinase concentration, Albinism, Micrognathia, Leukopenia, T lymphoc...	OMIM:242840
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent skin...	OMIM:620210
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Tachycardia, Cerebral atrophy, Pigmentary retinopathy, Dem...	ORPHA:79264
Immunodeficiency 23	Hemolytic anemia, Somatic sensory dysfunction, Ataxia, Abscess, Eosinophilia, Rheumatoid factor p...	OMIM:615816
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoproliferative disorder, B-cell lymphoma, Lymphoma, Decreased specific anti-polysaccharide a...	OMIM:300853
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Eosinophilopenia	Autoimmunity	OMIM:131430
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R...	OMIM:602271
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Frontotemporal dementia, Hand tremor, Upper limb muscle weakness, P...	ORPHA:100996
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon...	OMIM:615122
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Cognitive impairment, Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypog...	OMIM:602579
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co...	OMIM:217150
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
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Cognitive impa...	OMIM:615994
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Tremor, High palate, Short philtrum, Abnormal repetitive mannerism...	OMIM:618342
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Ataxia, Retinal degeneration, Abnormality of the dentition	ORPHA:3363
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level...	ORPHA:71212
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior	ORPHA:75858
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Bardet-Biedl Syndrome 16	Cognitive impairment, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De...	OMIM:615559
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia, Re...	OMIM:619164
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Aggressive behavior, Persistence of primary teeth, Protruding...	OMIM:610253
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Impulsivity, Tremor, Optic atrophy, Cerebral atrophy, Hypodontia, Attention deficit hyper...	ORPHA:442835
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect...	OMIM:242700
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m...	OMIM:616329
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Carious teeth, Cogniti...	ORPHA:1390
Necrobiosis Lipoidica	Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Boutonneuse Fever	Vasculitis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombo...	ORPHA:83313
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Rheumatoid factor positive, Monoclonal elevation of ci...	ORPHA:91139
Igg4-Related Aortitis	Autoimmunity, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l...	ORPHA:449400
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Rift Valley Fever	Retinitis, Anorexia, Hematemesis, Retinal hemorrhage, Macular edema, Anemia, Increased circulatin...	ORPHA:319251
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Pigmentary retinopathy, Neutropenia, Intention tremor	OMIM:266130
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Generalized dystonia, Ataxia, Corpus callosum atrophy, Ret...	OMIM:619389
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age	OMIM:618858
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea...	OMIM:618969
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, R...	ORPHA:157850
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anorexia, Splenome...	ORPHA:507
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased cir...	OMIM:607594
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Splenomegaly...	ORPHA:1133
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Dilated cardiomyo...	OMIM:252011
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Mandibular prognathia, Corpus callosum atrophy, Splenomegaly, Vacuolated lymp...	OMIM:248500
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age	OMIM:606176
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Exaggerated cupid's bow, Camptodactyly ...	ORPHA:2215
Chilblain Lupus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Raynaud phenomenon, Antinuclear...	ORPHA:90280
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Liver kidney microsome type 1 antibody positivity, Spider hemangioma...	ORPHA:2137
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Everted upper lip vermilion, Splenomegaly, B Acute Lymphoblastic Leukemia, Decrease...	OMIM:619824
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona...	OMIM:203800
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Dysphagia, Pigmentary retinopathy, Dystonia, Rod-cone dystrophy	OMIM:264470
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Sotos Syndrome	Mandibular prognathia, Aggressive behavior, High, narrow palate, Patent ductus arteriosus, Narrow...	OMIM:117550
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre...	OMIM:301078
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Cystinosis	Portal hypertension, Abnormal repetitive mannerisms, Rickets, Myopathy, Polydipsia, Retinopathy	ORPHA:213
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Pachygyria, Elevated circulating creatine kinase concentration	OMIM:617613
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Decreased circulating cerulo...	ORPHA:48818
Nephronophthisis 11	Anisocoria, Polydipsia, Retinal degeneration, Anemia	OMIM:613550
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy	ORPHA:1995
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Lead Poisoning	Delayed eruption of teeth, Somatic sensory dysfunction, Anorexia, Increased circulating IgE level...	ORPHA:330015
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Increased circulating I...	OMIM:147060
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Decreased circulating total IgM, Neutropenia, Enamel hypoplasia, Dec...	ORPHA:2643
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunoglobulin A Deficiency 2	Autoimmunity	OMIM:609529
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Ragged-red muscle fibers, T...	ORPHA:480
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Dystonia, Ataxia, Postural tremor, Impaired distal proprioception, Opt...	ORPHA:447896
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Cofs Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia, Optic atrophy, Everte...	ORPHA:1466
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M...	OMIM:224300
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Generalized hyperpigmentation, Ataxia, Pericarditis, Anore...	ORPHA:3452
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom...	OMIM:604250
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula...	OMIM:619644
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Dystonia, Optic atrophy, Cerebral atrophy, Frontotemporal...	ORPHA:391428
Dystonia 31	Abnormal posturing	OMIM:619565
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ...	OMIM:249270
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border, Hypopigmentation...	OMIM:601957
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Brucellosis	Liver abscess, Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein conc...	ORPHA:1304
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Attention deficit hyperactivity disorder, Cam...	OMIM:618761
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital di...	ORPHA:818
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci...	OMIM:620282
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Autoimmunity	OMIM:222100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Aceruloplasminemia	Torticollis, Ataxia, Increased circulating ferritin concentration, Chorea, Aceruloplasminemia, An...	OMIM:604290
Macular Degeneration, Age-Related, 3	Choroidal neovascularization, Drusen, Decreased nerve conduction velocity, Distal sensory impairm...	OMIM:608895
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir...	ORPHA:158048
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Autoimmunity, Persistence of primary teeth, Vasculitis, Anemia	ORPHA:375
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Attention ...	OMIM:300310
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Microcephaly-Cardiomyopathy Syndrome	Cognitive impairment, Abnormality of retinal pigmentation, Dilated cardiomyopathy, High, narrow p...	ORPHA:2515
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Advanced eruption of...	OMIM:615873
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Cardiomyopathy	OMIM:609016
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Telangiectasia of the skin, Abnor...	ORPHA:3019
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, I...	OMIM:301000
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Ataxia	ORPHA:85334
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thromboc...	ORPHA:98850
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Wolfram Syndrome	Gastrointestinal hemorrhage, Ataxia, Optic atrophy, Myopathy, Cardiomyopathy, Dementia, Abnormal ...	ORPHA:3463
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D...	OMIM:616108
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, De...	OMIM:615147
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, Re...	OMIM:602450
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete...	OMIM:269880
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr...	ORPHA:644
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Lym...	OMIM:102700
Adnp Syndrome	Thin upper lip vermilion, Aggressive behavior, Oral-pharyngeal dysphagia, Thick lower lip vermili...	ORPHA:404448
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Systemic Lupus Erythematosus 17	Lymphopenia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopen...	OMIM:301080
Mucolipidosis Iv	Cerebellar atrophy, Progressive neurologic deterioration, Optic atrophy, Dystonia, Retinal degene...	OMIM:252650
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, Hy...	ORPHA:506353
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Hypertensive ...	ORPHA:544482
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Dubowitz Syndrome	Delayed eruption of teeth, Short attention span, Hyperactivity, Aplastic anemia, Micrognathia, Ca...	OMIM:223370
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
C3 Glomerulopathy	Autoimmunity, Drusen, Paraproteinemia, Hypertension, Yellow/white lesions of the retina, Decrease...	ORPHA:329918
Vici Syndrome	Decreased circulating IgG level, Abnormality of retinal pigmentation, Optic atrophy, Gray matter ...	ORPHA:1493
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ...	OMIM:300636
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Tremor, Choreoathetosis, Retinal degeneration, Hyperactivity, Ataxia, Acan...	OMIM:234200
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ...	ORPHA:508
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Combined Oxidative Phosphorylation Deficiency 54	Periventricular nodular heterotopia, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Alg6-Cdg	Ataxia, Macroglossia, Hypoalbuminemia, Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration, Abnormality of the dentition	OMIM:615982
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Retinal atrophy, Postural tremor, Corpus callosum atrophy, Impaired proprioce...	ORPHA:412057
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Immunodeficiency, Common Variable, 11	Aphthous ulcer, Decreased proportion of class-switched memory B cells, Decreased circulating IgG ...	OMIM:615767
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circulating C-react...	OMIM:613011
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Ataxia, Abnormal atrioventricular conducti...	ORPHA:3208
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Trichothiodystrophy	Osteopenia, Multiple joint contractures, High, narrow palate, Gait ataxia, Macular degeneration, ...	ORPHA:33364
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Generalized dystonia, Ataxia, Elevated circulating creatine kinase con...	OMIM:272300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Facial palsy, Elevated circulating creatine kinase concent...	OMIM:613156
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Eosinophilia, Hand muscle weakness, Tremor, Atrophy of the spinal co...	ORPHA:99965
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Ataxia-Telangiectasia	Recurrent respiratory infections, Telangiectasia of the skin, Decreased circulating antibody leve...	ORPHA:100
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia	OMIM:145750
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Kleefstra Syndrome Due To A Point Mutation	Self-injurious behavior, Thick lower lip vermilion, Natal tooth, Abnormality of the dentition	ORPHA:261652
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Tremor, Dysmetria, Dysdiado...	ORPHA:96
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat...	OMIM:614592
Eem Syndrome	Abnormality of retinal pigmentation, Abnormal dental morphology, Selective tooth agenesis, Cariou...	ORPHA:1897
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat...	ORPHA:2088
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatos...	ORPHA:313855
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Cerebral...	ORPHA:168491
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Sinusitis, Dysgammaglobu...	OMIM:251260
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Patent duct...	ORPHA:353281
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte...	OMIM:204100
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P...	ORPHA:284227
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Capillary leak, Retinal vasculitis, Decrea...	OMIM:615758
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Conjunctival telangiectasia, Dysto...	OMIM:606002
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocyto...	OMIM:614069
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m...	OMIM:619705
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Irregular dentition, Ataxia, Macular coloboma, Macular atr...	OMIM:619260
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Congestive heart failure, Enamel hypoplasia, Hypoplastic...	OMIM:253250
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Dental crowding, Eosinophilia, Craniosynostosis, Increased circulating IgE level, Macroglossia, J...	OMIM:618523
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia, Hypertension, Abnormality of bone...	ORPHA:3156
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Osteoporosis, Myopathy, Pigmentary reti...	OMIM:618234
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Craniosynostosis, Optic atrophy, Gingival overgrowth, Narrow palate, Hypertension, H...	OMIM:123790
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Acrocraniofacial Dysostosis	Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth	ORPHA:949
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Pain insensitivity, Dental crowding, Aggressive behavior, Wide mouth, ...	OMIM:618825
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Tularemia	Brain abscess, Tachycardia, Confusion, Leukocytosis, Oral ulcer, Anemia, Increased circulating an...	ORPHA:3392
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Delayed eruption of teeth, Diffuse cerebral atrophy, Progressive neurologic d...	OMIM:214150
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Incontinentia Pigmenti	Orofacial cleft, Abnormality of skin pigmentation, Abnormal chorioretinal morphology, Abnormal de...	ORPHA:464
Familial Cold Urticaria	Dysesthesia, Polydipsia	ORPHA:47045
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rod-...	OMIM:610127
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Gingival fibromatosis, Gingival ...	ORPHA:2026
Congenital Toxoplasmosis	Cognitive impairment, Thrombocytopenia, Abnormality of retinal pigmentation, Anemia	ORPHA:858
Central Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:178029
Acrootoocular Syndrome	Delayed eruption of teeth, Small hypothenar eminence, Micrognathia, Grayish enamel, High, narrow ...	ORPHA:2980
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Mandibular prognathia, Ataxia, Decreased circulating total IgM, Decreased cir...	OMIM:300861
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
East Syndrome	Cerebellar atrophy, Salt craving, Ataxia, Increased circulating renin level, Polydipsia, Lower li...	ORPHA:199343
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Simplified gyral pattern, Cerebral atrophy, Long philtrum, Retinal degeneration	OMIM:616211
Retinoblastoma	Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ...	ORPHA:790
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Ataxia, Abnormal dental enamel morphology, Tremor, Open bit...	ORPHA:10
Say-Barber-Miller Syndrome	Craniosynostosis, Micrognathia, Carious teeth, Rod-cone dystrophy, Transient hypogammaglobulinemi...	ORPHA:3132
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Increased circulating IgM...	ORPHA:37748
Aarskog-Scott Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Hypoplasia of the maxilla, C...	ORPHA:915
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Orthostatic hypotension, Ataxia, Atrophy of the spinal cord, Generalized li...	ORPHA:2822
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Severe i...	ORPHA:2686
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev...	ORPHA:100024
Opitz Gbbb Syndrome	Natal tooth, Short attention span, Craniosynostosis, Micrognathia, Congenital diaphragmatic herni...	ORPHA:2745
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Refsum Disease, Classic	Somatic sensory dysfunction, Ataxia, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb m...	OMIM:266500
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Splenomegaly, Patent ductus arteriosus, Aplasia/Hypoplasia o...	ORPHA:290
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Stickler Syndrome	Skeletal muscle atrophy, Retinal detachment, Abnormal dental enamel morphology, Micrognathia, Hyp...	ORPHA:828
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Delayed eruption of teeth, Ataxia, Dental crowding, Splenomegaly, Macroglossi...	OMIM:616354
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Retinal detachment, Abnormality of the dentition, Patent ductus arteri...	ORPHA:2712
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating...	OMIM:618394
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Opisthotonus	OMIM:616896
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Sclerosis of skul...	OMIM:269300
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Hypertension, Left ventricular hypertrophy, Polydipsia, Decreased circu...	ORPHA:320
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegaly, Recurrent i...	OMIM:617591
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Decreased circulating IgG level, Tricuspid regu...	ORPHA:505248
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Bone spicule pigmentation of the retina, Decreased sensory nerve conduct...	OMIM:609033
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Facial palsy, Micro...	OMIM:620186
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Abnormal repetitive mannerisms, Retinal degeneration, Oppos...	ORPHA:580
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Facial hypotonia, Bull's eye ma...	OMIM:216550
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In...	OMIM:308230
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Ataxia, Poliosis, Dental malocclusion, Horner syndrome...	OMIM:141300
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Pulmonary embolism, Neutropenia, Delirium, Retinal degeneration, Ataxia, Di...	ORPHA:79282
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Attenuation of retinal blo...	OMIM:204000
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Congestive heart fa...	ORPHA:247353
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue	ORPHA:2743
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia	OMIM:604484
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Micrognathia, Protruding tong...	OMIM:259775
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ...	OMIM:175700
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Activated Pi3K-Delta Syndrome	Autoimmunity, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level...	ORPHA:397596
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Abnormality ...	OMIM:617406
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Patent ductus arteriosus, Flexion contracture, Optic atrophy, Congestive heart fail...	OMIM:617303
Lowry-Maclean Syndrome	Delayed eruption of teeth, Diaphragmatic eventration, Cleft palate, Craniosynostosis	OMIM:600252
Primary Intestinal Lymphangiectasia	Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating...	ORPHA:90362
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Oculorenocerebellar Syndrome	Choreoathetosis, Retinal degeneration	OMIM:257970
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Pa...	ORPHA:2863
Atypical Werner Syndrome	Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnormal circulating lep...	ORPHA:79474
Huntington Disease	Bradyphrenia, Caudate atrophy, Dystonia, Aggressive behavior, Oral-pharyngeal dysphagia, Chorea, ...	ORPHA:399
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Decreased circulating IgA level, Recurrent aphthous stomatitis, Decreased proportio...	ORPHA:275
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Micrognathia, Inc...	OMIM:600462
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Macu...	OMIM:270200
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Elevated circulating ...	OMIM:256040
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear...	ORPHA:90065
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Autoimmunity, Elevated circulating C-reactive ...	ORPHA:158061
Sneddon Syndrome	Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke, Lymphopenia	OMIM:182410
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, High palate	OMIM:616606
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Mandibular prognathia, Retinal degeneration	OMIM:607016
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Facial palsy, Micrognathia, Cleft upper...	OMIM:300373
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Cerebral atrophy, Pigm...	OMIM:222300
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele...	ORPHA:319218
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodon...	OMIM:300867
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Meningiti...	ORPHA:292
Arima Syndrome	Retinal dystrophy, Ataxia, Optic atrophy, Wide mouth, Gray matter heterotopia, Hypertension, Chor...	OMIM:243910
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Coccidioidomycosis	Pericarditis, Abscess, Eosinophilia, Abnormal retinal morphology, Abnormality of the spleen, Vasc...	ORPHA:228123
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Hyperactivity, Thick lower lip vermilion, Cleft palate, Wide mouth, Ma...	OMIM:614607
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Athetosis, Hypertension, Second degree atrioventricular block...	ORPHA:369929
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of...	OMIM:208900
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest...	OMIM:615812
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Abnormality of the tongue, Opisthotonus, Pigmentary reti...	ORPHA:216866
Oligomeganephronia	Branchial cyst, Congenital diaphragmatic hernia, Micrognathia, Optic disc coloboma, Hypertension,...	ORPHA:2260
Methanol Poisoning	Confusion, Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammator...	ORPHA:31825
X-Linked Immunoneurologic Disorder	Myopathy, Decreased circulating IgG2 level	ORPHA:2571
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Flexion contracture, Atrioventricular block, Reduced bone m...	ORPHA:581
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Selective Igm Deficiency	Paraproteinemia, Decreased proportion of transitional B cells, Decreased proportion of CD3-positi...	ORPHA:331235
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Anorexia, Hypersplenism, Splenomegaly, ...	ORPHA:77259
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Abnormality of the dentition, Gingival overgrowth, Delayed erup...	ORPHA:2222
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis	ORPHA:403
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of ...	ORPHA:193
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ataxia, Rhabdomyolysis, Ventricular tachycardia, Increased c...	OMIM:263800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ...	ORPHA:542323
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration, Ataxia, H...	ORPHA:370022
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Scapular winging, Camptodactyly of finger, Open bite, Abnormality of denta...	ORPHA:1327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Type II lissencephaly, Flexion contracture, L...	OMIM:615249
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Smith-Magenis Syndrome	Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Delayed eruption of primar...	ORPHA:819
Septo-Optic Dysplasia Spectrum	Polydipsia, Optic nerve hypoplasia, Cleft palate, Septo-optic dysplasia	ORPHA:3157
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Decreased muscle mass, Distal arthrogryposis, Firm muscles, ...	OMIM:108145
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Portal ...	OMIM:615688
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Trichinellosis	Facial palsy, Confusion, Trismus, Increased circulating IgE level, Central retinal artery occlusi...	ORPHA:863
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Acute Lung Injury	Shock, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein...	ORPHA:178320
Usher Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Ataxia, Abnormal dental enamel ...	ORPHA:886
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hypopigmentation of the skin, Hypopigmentation of hair, Progressive neur...	OMIM:219800
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune th...	ORPHA:1855
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw	ORPHA:199276
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Truncal ataxia, Dysmetria, Limb ataxia, Macular degeneration, Progressive gai...	ORPHA:284289
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Micrognathia, Abnormality of the dentition, Increased circulating IgE level, Decrea...	OMIM:618282
Spastic Paraplegia 15, Autosomal Recessive	Ataxia, Macular degeneration, Distal amyotrophy, Lower limb muscle weakness, Retinal degeneration	OMIM:270700
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Abnormal cranial nerve morphology, Gait ataxia, Macular degeneration, Dys...	ORPHA:247234
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Anemia	OMIM:614450
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, En...	ORPHA:449432
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Tremor, Downturned corners of mouth, Short philtrum, Premature...	ORPHA:3455
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Eosinophilia, Craniosynostosis, Abnormality of the dentiti...	ORPHA:2314
Panhypophysitis	Orthostatic hypotension, Antinuclear antibody positivity, Normochromic anemia, Polydipsia, Hashim...	ORPHA:95513
Q Fever	Pericarditis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Anorexia, Anticar...	ORPHA:781
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Chronic ...	OMIM:618131
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Hurler Syndrome	Aortic regurgitation, Progressive neurologic deterioration, Splenomegaly, Flexion contracture, Cr...	OMIM:607014
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Meckel Syndrome, Type 1	Accessory spleen, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Micrognathia, A...	OMIM:249000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Micrognathia, Protruding tongue, Macroglossia, T lymphocytopenia, Increased circulatin...	OMIM:242860
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology, Cleft palate, Cleft upper lip	ORPHA:398189
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocy...	ORPHA:760
Roifman Syndrome	Noncompaction cardiomyopathy, Eczema, Recurrent pneumonia, Decreased circulating antibody level, ...	ORPHA:353298
Marchiafava-Bignami Disease	Ataxia, Facial palsy, Confusion, Aggressive behavior, Gait ataxia, Dementia, Addictive alcohol us...	ORPHA:221074
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Sjogren Syndrome	Autoimmunity, Rheumatoid arthritis	OMIM:270150
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Conges...	OMIM:309900
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, ...	ORPHA:158687
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Neutrophilia, Facial palsy, A...	ORPHA:79139
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Ochoa Syndrome	Hypertension, Polydipsia	ORPHA:2704
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Hypermelanoti...	ORPHA:90321
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection	OMIM:618309
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Congenital di...	ORPHA:96170
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Cerebral atrophy, Increased circ...	OMIM:618213
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Refsum Disease	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Heart block, Splenomegaly, ...	ORPHA:773
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Recurrent pharyngitis, Hepatitis, Endocard...	ORPHA:549
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Ataxia, Optic nerve hypoplasia, Decreased lymphocyte proliferation in response to ant...	ORPHA:221139
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Diastasis recti, Hypochromic anemia	OMIM:606893
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Protracted diarrhea, Agammaglobu...	OMIM:209920
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:568
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Tented upper lip vermilion, Thin upper lip vermilion, Retinal pigment epithelial mo...	OMIM:619517
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor	OMIM:614307
Kearns-Sayre Syndrome	Sideroblastic anemia, Ataxia, Ragged-red muscle fibers, Pigmentary retinopathy, Cardiomyopathy, D...	OMIM:530000
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, High palate, Everted lower lip...	OMIM:619736
Juvenile Paget Disease	Abnormality of retinal pigmentation, Abnormality of the dentition, Cranial hyperostosis, Optic at...	ORPHA:2801
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Increased circulating IgE level, Dental malocclusion, Abnormality of the d...	ORPHA:1858
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Hypopla...	OMIM:616300
Mogs-Cdg	Absent brainstem auditory responses, Fair hair, Optic atrophy, Retrognathia, Decreased circulatin...	ORPHA:79330
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Ataxia, Choreoathetosis, Limb hypertonia, Hypodontia, Dystonia, Amelog...	OMIM:615905
Alg12-Cdg	Retinal detachment, Thin upper lip vermilion, Partial absence of specific antibody response to Ha...	ORPHA:79324
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Leukocytosis, Gingival overgrowth...	ORPHA:520
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Persistence of primary teeth, Carious teeth, Retinal calcification, Cortical thicken...	ORPHA:93325
Poretti-Boltshauser Syndrome	Retinal thinning, Gray matter heterotopia, Retinal atrophy, Retinal dystrophy	OMIM:615960
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Dental crowding, Open mou...	ORPHA:79329
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Progressive gai...	ORPHA:191
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, ...	OMIM:617675
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati...	ORPHA:391487
Overlap Myositis	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Auto...	ORPHA:206572
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Igg4-Related Thyroid Disease	Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Anti...	ORPHA:64744
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sudden cardiac death, Neutropenia, Anemia, Dysphagia, Polydipsia, Th...	ORPHA:537
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula...	ORPHA:449563
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Craniosynostosis, Micrognathia, Decreased proportion of CD8-positive T cells, Increa...	ORPHA:508533
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytos...	ORPHA:36238
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353277
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Kimura Disease	Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia	ORPHA:482
Hyperparathyroidism, Neonatal Severe	Calcinosis, Splenomegaly, Polydipsia, Anemia	OMIM:239200
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, Congestive heart failure, High, narrow p...	ORPHA:2108
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Splenomegaly, Patent ductus arteriosus, Lobul...	OMIM:269860
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Micrognathia, Tremor, Increased variability in mu...	ORPHA:502423
Cysticercosis	Abnormal optic chiasm morphology, Calcification of muscles, Retinal detachment, Ataxia, Somatic s...	ORPHA:1560
Prolidase Deficiency	Micrognathia, Splenomegaly, Diffuse telangiectasia, Systemic lupus erythematosus, Anemia, Increas...	OMIM:170100
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Retinitis, Hamartoma of tongue, Periventricular heterotopia, Micr...	OMIM:615948
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal...	ORPHA:540
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial hemorrhage, A...	ORPHA:3226
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic ...	ORPHA:221008
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi...	OMIM:615710
Senior-Boichis Syndrome	Diffuse cerebral atrophy, Portal hypertension, Aggressive behavior, Hepatosplenomegaly, Hypertens...	ORPHA:84081
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Micrognathia, Narrow mouth, Flexion contracture, Hypoplas...	OMIM:264090
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Salt craving, Ataxia, Hypertension, Dysdiadochokinesis, Increased circulating...	OMIM:612780
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepato...	OMIM:612541
Sandifer Syndrome	Anemia, Abnormal posturing, Esophagitis, Hematemesis	ORPHA:71272
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology, Abnormality of neuronal migr...	ORPHA:65
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Focal polymicrogyria, Thick upp...	OMIM:612651
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Orofacial cleft, Retinal degeneration	OMIM:615630
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Aganglionic megacolon, Heart ...	ORPHA:175
Canavan Disease	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Cognitive impairment	ORPHA:141
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Dystonia, Limb joint contracture, Ataxia, Chorea, Optic atrophy, Blepharospasm...	OMIM:617282
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Telangiectasia of the skin, Camptodactyly of finger, Micrognathia,...	ORPHA:2135
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilio...	OMIM:619797
Camurati-Engelmann Disease	Delayed eruption of teeth, Skeletal muscle atrophy, Ataxia, Facial palsy, Anorexia, Carious teeth...	ORPHA:1328
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Osteopenia, Pericarditis, Thin upper lip vermilion, Ataxia, Tremor, Rod-cone ...	OMIM:212065
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia...	ORPHA:2521
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinoblastoma	Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, L...	OMIM:180200
Senior-Loken Syndrome 1	Polydipsia, Retinal dystrophy, Anemia	OMIM:266900
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu...	ORPHA:811
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Abnormal cortical gyration, Impaired T cell function, Patent ductus ar...	OMIM:614576
Aspergillosis	Sinusitis, Eosinophilia, Increased circulating IgE level, Vitritis, Intracranial hemorrhage, Neut...	ORPHA:1163
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Gitelman Syndrome	Prolonged QT interval, Salt craving, Hashimoto thyroiditis, Raynaud phenomenon, Rhabdomyolysis, L...	ORPHA:358
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Mevalonic Aciduria	Cerebellar atrophy, Normocytic hypoplastic anemia, Optic disc pallor, Ataxia, Elevated circulatin...	OMIM:610377
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Nephronophthisis 1	Hypertension, Polydipsia, Anemia	OMIM:256100
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Cranial nerve compression, Leuk...	ORPHA:2785
Atelis Syndrome 2	Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin...	OMIM:620185
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Scleromyxedema	Transient ischemic attack, Elevated circulating creatine kinase concentration, Raynaud phenomenon...	ORPHA:167635
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rhabdomyolysis, Hematochezia,...	ORPHA:79095
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Dysmetria, Macular degeneration, Dysphagia, Mental deterioration	OMIM:619780
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Decreased circulating total IgM, Defective T cell proliferat...	OMIM:619774
Spermatogenic Failure 81	Multiple non-erupting secondary teeth, Reduced progressive sperm motility	OMIM:620277
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity	ORPHA:231154
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration, Abnormal p...	ORPHA:44
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Pulmonary em...	ORPHA:96264
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Ataxia, Aplasia/Hypoplasia of the abdominal wall musculature...	ORPHA:578
Rothmund-Thomson Syndrome	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic ...	ORPHA:2909
Macrocephaly/Autism Syndrome	Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,...	OMIM:605309
Multiple Myeloma	Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ...	ORPHA:29073
Abetalipoproteinemia	Ataxia, Retinopathy, Retinal degeneration, Acanthocytosis	OMIM:200100
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Progressive neuro...	ORPHA:90324
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Short attention span, Hyperactivity, Micrognathia, Osteoporosis, Atten...	ORPHA:73272
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive	OMIM:615453
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Hypopigmentation of the ski...	ORPHA:125
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Neurotrophic Keratopathy	Diabetes mellitus, Allodynia, Corneal scarring	ORPHA:137596
Postinfectious Vasculitis	Abnormal circulating protein concentration, Cerebral vasculitis, Rheumatoid factor positive, Elev...	ORPHA:48435
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Craniosynostosis, Micrognathia, Rod-cone dystrophy, Heart murmur, Cafe-au-lait spot, Cerebral cor...	ORPHA:166035
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Retinal dystrophy, Optic nerve hypoplasia, Chronic decreased circulating I...	OMIM:300953
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Impaired T cell function, Minimal change glomerulonephritis, Thrombocy...	ORPHA:1830
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Hypertension, Palpitations, Polydipsia, Decreased circulating renin level	ORPHA:231580
Igg4-Related Kidney Disease	Pericarditis, Rheumatoid factor positive, Eosinophilia, Increased circulating IgG4 level, Elevate...	ORPHA:449395
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ...	ORPHA:2902
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Pulmonary em...	ORPHA:96263
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open ...	OMIM:619356
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Osteolysis, Gingival o...	ORPHA:137834
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Polydipsia, Rickets, Cognitive impairment	ORPHA:411629
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Delayed eruption of teeth, Short attention span, Ataxia, Tremor, Carious teeth, ...	OMIM:619229
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Abnormality of skin pigmentation, Decreased circulating total IgM, ...	OMIM:620040
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart...	ORPHA:508542
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Delayed eruption of teeth, Camptodactyly of finger, Thenar muscle atrophy, Dental mal...	OMIM:612350
Carpenter Syndrome 1	Sagittal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,...	OMIM:201000
Coffin-Siris Syndrome 3	Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permane...	OMIM:614608
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Cockayne Syndrome A	Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormality of skin ...	OMIM:216400
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chorea, Leukopenia, Decreased circulating complement C4 concentratio...	ORPHA:289390
Erdheim-Chester Disease	Increased bone mineral density, Ataxia, Congestive heart failure, Osteolysis, Polydipsia, Anemia	ORPHA:35687
Gaucher Disease	Osteopenia, Pancytopenia, Increased bone mineral density, Ataxia, Elevated circulating C-reactive...	ORPHA:355
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In...	ORPHA:906
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Recurrent upper respiratory tract infections, Recurrent streptococcus pneumon...	ORPHA:225147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Pigmentar...	OMIM:613154
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le...	OMIM:617099
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Ataxia, Truncal titubatio...	ORPHA:88628
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Increased circulating antibody level	OMIM:178500
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Decreased circu...	OMIM:275350
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Rett Syndrome	EEG abnormality, Failure to thrive, Cholecystitis, Increased serum leptin	ORPHA:778
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Calf muscle pseudohypertrophy, Ataxia, Elevated circulating creatin...	ORPHA:96180
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Ataxia, Dental...	OMIM:209900
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Increased bone mineral density, Delayed eruption of teeth, Con...	ORPHA:79443
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Pulmonary arterial hypertension, Scl...	ORPHA:2905
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Tented upper lip vermili...	OMIM:618460
Nephrogenic Diabetes Insipidus	Polydipsia, Hypovolemia, Anorexia	ORPHA:223
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Thrombocytopenia, Abnorma...	OMIM:242900
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Eosinophilia, Conical too...	OMIM:308300
Joubert Syndrome 6	Ataxia, Retinal degeneration, Abnormal repetitive mannerisms, Chorioretinal coloboma	OMIM:610688
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Supernumerary tooth, Oligodontia, Abnormality of the dentition	ORPHA:1264
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi...	OMIM:304790
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Micrognathia, Brushfield spots, High, narrow palate, Patent ductus arteriosus,...	OMIM:214100
Abetalipoproteinemia	Impaired vibratory sensation, Reticulocytosis, Abnormality of retinal pigmentation, Osteopenia, A...	ORPHA:14
Nephronophthisis 4	Polydipsia, Anemia	OMIM:606966
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Chorioretinal dysplasia, Micrognathia, Abnormal pupil mor...	ORPHA:534
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Restless legs, Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, ...	ORPHA:94147
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Abnormal drinking ...	ORPHA:209905
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnormality of neurona...	ORPHA:2063
Hyperaldosteronism, Familial, Type Iii	Hypertension, Polydipsia, Decreased circulating renin level	OMIM:613677
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Ataxia, Retinal degeneration, Acanthocytosis	OMIM:615558
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Microglossia	OMIM:146510
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Aggressive behavior, Tremor, Micrognathia, Abnormality of the dentition, Gait at...	ORPHA:476126
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, High palate, Pachygyria, Tricuspid regurgitation, Brushfield spots, Hepatosplenomeg...	OMIM:614866
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Dementia, Optic atrophy, Ataxia	ORPHA:1173
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Hennekam Syndrome	Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Camptodactyly of finger, Cran...	ORPHA:2136
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Periventricular heterotopia, Retinal pigment epithelial mottling, Hig...	OMIM:614105
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Generalized hypopigmentation, Irregular hyperpigmentation, Hypodontia	ORPHA:1816
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Rod...	OMIM:260920
Necrotizing Enterocolitis	Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Melas	Wolff-Parkinson-White syndrome, Short attention span, Ataxia, Cardiac conduction abnormality, Rag...	ORPHA:550
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis, Myositis	ORPHA:48104
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Abnorm...	ORPHA:99826
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate...	OMIM:617253
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia	OMIM:256000
Encephalitis Lethargica	Autoimmunity, Tremor, Upper limb muscle weakness, Increased circulating antibody level, Bradycard...	ORPHA:83600
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Splenomegaly, Cerebral atrophy, Rapid neurologic deterioration, Retin...	OMIM:272200
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:227810
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen...	ORPHA:3214
Peroxisome Biogenesis Disorder 2A (Zellweger)	Micrognathia, Brushfield spots, Optic nerve dysplasia, Cleft palate, Pigmentary retinopathy, Hypo...	OMIM:214110
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Antegonial no...	OMIM:170390
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial palsy, Optic atrophy, Delayed eruption of permanent teeth, Broad al...	OMIM:218400
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Mandibular prognathia, Increased serum beta-hexosaminidase, Craniosynostosi...	OMIM:252600
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Myositis...	ORPHA:3243
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Emanuel Syndrome	Broad jaw, Torticollis, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, Delayed e...	OMIM:609029
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Thin upper lip vermilion, Patent ductus arteriosus, Decreased circulating tot...	OMIM:607143
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, Ma...	ORPHA:436245
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Ataxia, Optic atrophy, Pigmentary retinopathy, High palate, Increased intramyocellular lipid drop...	OMIM:220110
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Pulmonary arterial hypertension, Brain atrophy	OMIM:619059
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Retinal calcification, Thickened cortex of long bone...	OMIM:127000
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Increased circulating IgE level	OMIM:616069
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Joubert Syndrome 3	Frontal polymicrogyria, Retinal dystrophy, Ataxia, Pigmentary retinopathy, Open mouth	OMIM:608629
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopenia	OMIM:617425
Immunodeficiency, Common Variable, 10	Anti-thyroid peroxidase antibody positivity, Decreased circulating total IgM, Recurrent sinusitis...	OMIM:615577
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Cleft lip, Thick lower lip vermilion, Cer...	OMIM:280000
Viss Syndrome	Epidural hemorrhage, Micrognathia, High, narrow palate, Increased circulating IgG level, High pal...	OMIM:619472
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:881
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia, Addictive alcohol use, Elevated circulating C-reactive protein concen...	ORPHA:1930
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Urban-Rogers-Meyer Syndrome	Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Increased circulating IgE lev...	ORPHA:3409
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail...	OMIM:264800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Intracr...	OMIM:617053
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating tra...	ORPHA:90363
Joubert Syndrome 28	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:617121
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Impulsivity, Micrognathia, High, narrow palate, Abnormality of dental ...	ORPHA:96092
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Congenital diaphragmatic hernia, Cleft upper...	OMIM:122470
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Narrow mouth, Gingival overgrowth, Retrognathia, Narrow...	OMIM:235510
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, Osteoporosis, High palate, Narrow mouth, Malar flattenin...	OMIM:613849
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Persistence of primary teeth, Optic atrophy, Dental malocclusion, Oligodontia, Ect...	OMIM:618727
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Dental crow...	ORPHA:394
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Malar prominence, Abnormal retinal va...	ORPHA:2715
Teratoma, Pineal	Polydipsia	OMIM:273120
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Narrow mouth...	OMIM:257850
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Delayed eruption of teeth, Limb joint contracture, A...	OMIM:301072
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Thin upper lip vermilion, Ataxia, Micrognathia, Pachygyria, Prot...	OMIM:617062
Werner Syndrome	Skeletal muscle atrophy, Increased bone mineral density, Abnormality of retinal pigmentation, Tel...	ORPHA:902
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Osteolysis	ORPHA:873
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Hypertension, Everted lower lip vermilion...	ORPHA:181
Subcorneal Pustular Dermatosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Cognitive impairment	OMIM:612463
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Increased bone mineral density, Delayed eruption of teeth, Con...	ORPHA:79444
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R...	ORPHA:542306
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Osteoporosis, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Erythema Elevatum Diutinum	Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Congenital diaphragmat...	OMIM:600001
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Pycnodysostosis	Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of primary teeth, Micr...	ORPHA:763
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Reduced bone mineral density, Athetosis, Cone/cone-rod dystrophy, Cerebellar atrophy, Opt...	ORPHA:404454
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Oral mucosal blisters, Increased circulati...	ORPHA:555905
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ataxia, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy, Hypertrophic cardiomyop...	ORPHA:436271
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop...	ORPHA:79432
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia	OMIM:304800
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Dementia, Arm dystonia, Neurodegeneration, Retinal degeneration	ORPHA:79244
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala...	ORPHA:50945
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Neonatal epiphyseal ...	OMIM:101800
Alveolar Echinococcosis	Liver abscess, Ataxia, Eosinophilia, Portal hypertension, Bone cyst, Abnormal skeletal muscle mor...	ORPHA:284
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Axial Spondylometaphyseal Dysplasia	Osteopenia, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Delayed ossificati...	ORPHA:168549
Diprosopus	Abnormality of retinal pigmentation, Non-midline cleft lip, Cleft palate	ORPHA:1681
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Cerebral atrophy	OMIM:617105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Agyria, Elevated circulating creatine kinase concentration, ...	OMIM:236670
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy...	ORPHA:5
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Macular scar, Osteoporosis, Angioid streaks of the fu...	OMIM:239000
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Smooth philtrum, Confusion, Megaloblastic anemia, Tremor, Pigmentary retinopathy, Dementia, Neutr...	OMIM:277400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Myositis, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, A...	ORPHA:37042
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Decreased calvarial ossi...	OMIM:617925
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Ret...	ORPHA:88
Renal Hypoplasia	Hypertension, Polydipsia	ORPHA:93101
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica...	ORPHA:2563
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Cockayne Syndrome Type 2	Mandibular prognathia, Ataxia, Hypermelanotic macule, Delayed eruption of primary teeth, Flexion ...	ORPHA:90322
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Neutropenia...	OMIM:617827
Prolidase Deficiency	Abnormality of retinal pigmentation, Micrognathia, Carious teeth, Splenomegaly, Reduced bone mine...	ORPHA:742
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum	ORPHA:71267
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic ...	ORPHA:221016
Micro Syndrome	Abnormality of retinal pigmentation, Micrognathia, Optic atrophy, Retinal coloboma, Lissencephaly...	ORPHA:2510
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Micrognathia, High, narr...	ORPHA:2780
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Ataxia	OMIM:245800
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxia, Hypopigmented skin pa...	ORPHA:636
Cockayne Syndrome B	Mandibular prognathia, Ataxia, Abnormal auditory evoked potentials, Delayed eruption of primary t...	OMIM:133540
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Failure to thrive, Hypsarrhythmia, Hypoketotic hypog...	OMIM:610768
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Portal hypertension, Micrognathia, Hypersplenism, Splenomegaly, Hepa...	ORPHA:731
Cystic Echinococcosis	Eosinophilia, Abscess, Bone cyst, Increased circulating antibody level, Splenic cyst, Abnormality...	ORPHA:400
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Periventricular heterotopia, Decreased nerve ...	OMIM:618733
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contr...	OMIM:305620
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Congestive heart failure, Rhabdomyolysis, Dil...	OMIM:609015
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Cole Disease	Hyperglycemia	OMIM:615522
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Recurrent viral infect...	OMIM:619573
Netherton Syndrome	Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level	OMIM:256500
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Cleft upper lip, Patent ductus arteriosus, Telangiec...	OMIM:612582
Lassa Fever	Shock, Increased circulating IgM level, Dysphagia	ORPHA:99824
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Splenomegaly, Optic atrophy, Abnormality of peripheral nerve...	ORPHA:585
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of neutrophils, Craniosynostosis, Micrognathia, Abnormalit...	ORPHA:235
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Delayed eruption of teeth, Scapular winging, Ivory epiphyses of the distal phalanges ...	OMIM:190350
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Multip...	ORPHA:1969
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Lo...	ORPHA:1519
Bloom Syndrome	Elevated hemoglobin A1c, Spotty hypopigmentation, Agenesis of maxillary lateral incisor, Decrease...	OMIM:210900
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the ma...	ORPHA:2409
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Retinal pigment epithelial mottling, Thick vermilion border, Widely spaced teeth	OMIM:617102
Liver Disease, Severe Congenital	Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi...	OMIM:619991
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,...	ORPHA:454831
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Pigmentary retinopathy, Skelet...	ORPHA:746
Recon Progeroid Syndrome	Smooth philtrum, Skeletal muscle atrophy, Prominence of the premaxilla, Dental crowding, Anemia, ...	OMIM:620370
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Optic atrophy, Hypopigmented skin...	ORPHA:2067
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Mitochondrial Dna-Associated Leigh Syndrome	Dystonia, Ataxia, Cardiac conduction abnormality, Chorea, Ragged-red muscle fibers, Optic atrophy...	ORPHA:255210
Odontochondrodysplasia	Delayed eruption of teeth, Patent ductus arteriosus, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,...	OMIM:613843
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Neutrophilia, Ataxia, Severe periodontitis, Abnormal isohemagglutinin leve...	ORPHA:99843
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia	OMIM:616029
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus	ORPHA:1573
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Papilledema, Abnormal dental morphology, Abnormal foveal morphology, Temporo...	ORPHA:217093
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic nerve compression, Splenomegaly, Optic atrophy, Decrea...	OMIM:612301
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia	ORPHA:935
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Right bundle branc...	OMIM:619322
Lysinuric Protein Intolerance	Osteopenia, Antinuclear antibody positivity, Thrombocytopenia, Increased circulating ferritin con...	ORPHA:470
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss	ORPHA:134
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Delayed eruption of teeth, Interphalangeal joint contracture of fing...	OMIM:259600
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Craniosynostosis, Micrognathia, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Thick ver...	OMIM:250410
Lujo Hemorrhagic Fever	Shock, Skin rash, Maculopapular exanthema, Elevated circulating C-reactive protein concentration,...	ORPHA:319213
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy, Abnormality of neu...	ORPHA:2518
Gaucher Disease, Type I	Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Epistaxis, Hypersplenism, Splenomeg...	OMIM:230800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Smooth philtrum, Severe B lymphocytopenia, Craniosynostosis, Porta...	OMIM:620005
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Severe periodontitis, Abnormality of the dentition, Perianal a...	ORPHA:2968
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal dental morphology, Camptodactyly of fi...	ORPHA:217085
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Polydipsia	ORPHA:18
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Anorexia, Optic neuropathy, Splenomegaly, Bone cy...	OMIM:181000
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Micrognathia, Patent ductus arteriosus, Flexion contracture,...	OMIM:275210
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Restrictive Dermopathy	Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Pate...	ORPHA:1662
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Anorexia	ORPHA:1302
Papa Syndrome	Myositis, Increased circulating antibody level	ORPHA:69126
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Ataxia, Dental crowding, Delayed eruption of primary teeth, Aggressive behavi...	OMIM:617799
Monosomy 9Q22.3	Delayed eruption of teeth, Hyperactivity, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, N...	ORPHA:77301
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Myopathy, Arrhythmia, Abnormal dental enamel morphology	ORPHA:2238
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Retinal degeneration, Reduced bone mineral density	OMIM:277700
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia...	ORPHA:3260
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Ataxia, Cardiac conduction abnormal...	ORPHA:699
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaph...	ORPHA:3380
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Patent ductus arteriosus, Small, co...	ORPHA:2962
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Hepa...	OMIM:618278
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Delayed eruption of teeth, Aut...	ORPHA:94089
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy, Dystonia	ORPHA:404451
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Elevated circulating creatine kinase concentration, Type II lissencephaly, Micro...	OMIM:253280
Odontochondrodysplasia 1	Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Long philtrum, Den...	OMIM:184260
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Craniolenticulosutural Dysplasia	Osteopenia, Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Optic atrophy, Cl...	OMIM:607812
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Increased circulating fre...	ORPHA:26793
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Patent ductus arteriosus, Cle...	ORPHA:672
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Ataxia, Increased circulating IgA level, Vasculitis, Recurrent aphth...	ORPHA:343
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:91547
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Farber Disease	Skeletal muscle atrophy, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Macular d...	ORPHA:333
Dend Syndrome	Hyperglycemia, Hypsarrhythmia	ORPHA:79134
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Decreased circulating...	OMIM:300972
Trisomy 9P	Dental crowding, Abnormal pupil morphology, Non-midline cleft lip, Impacted tooth, Downturned cor...	ORPHA:236
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole...	OMIM:124000
Char Syndrome	Persistence of primary teeth, No permanent dentition, Patent ductus arteriosus, Thick vermilion b...	ORPHA:46627
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Osteoporosis...	OMIM:601812
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Hematemesis, Splenomegaly, Increased circulat...	OMIM:615846
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Dental malocclusion, Thick vermilion border, High pa...	OMIM:612921
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Melanocyt...	ORPHA:950
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Delayed epip...	ORPHA:485
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Rickets, Osteoporosis, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Osteoporosis, Dysphagia, Polydipsia, Mandibular pain	ORPHA:99880
Trichothiodystrophy 1, Photosensitive	Flexion contracture, Retrognathia, Telangiectasia, Freckling, Triangular mouth, Decreased circula...	OMIM:601675
Craniolenticulosutural Dysplasia	Smooth philtrum, Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia ...	ORPHA:50814
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Low-to-normal blood pressure, Increased circulating renin level, Paresthesia, Polydip...	OMIM:241200
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Parathyroid Carcinoma	Shortened QT interval, Osteoporosis, Dysphagia, Polydipsia, Mandibular pain	ORPHA:143
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Aggressive behavior, Tented philtrum, Gait ataxia, Long philtrum, Retinal degeneration, Smooth ph...	OMIM:618479
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Delayed eruption of teeth, Abnormal dental morphology, Aggressive...	ORPHA:369950
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Abnormal pupil morphology, F...	ORPHA:261552
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Oligodontia, Microdontia, Hypoproteinemi...	ORPHA:2315
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Retinal detachment, Rieger anomaly, Tented upper lip vermilion, Delayed er...	ORPHA:521445
Senior-Loken Syndrome 9	Osteopenia, Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Nephronophthisis 3	Polydipsia	OMIM:604387
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog...	ORPHA:79318
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Retinal detachment, Remnants of the hyaloid vascular system, Persisten...	OMIM:300166
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Gaucher Disease Type 3	Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Anemia, Dementia,...	ORPHA:77261
Cherubism	Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar...	OMIM:118400
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Optic atrophy, Narro...	ORPHA:87
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Smooth philtrum, Fair hair, Retinal dystrophy, Ataxia, Craniosynostosis, Micrognathia...	OMIM:266920
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Short p...	ORPHA:261537
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy	OMIM:616722
Cowden Syndrome 1	Lymphopenia, Recurrent infections, Thyroiditis, Decreased circulating antibody level	OMIM:158350
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Delayed epiphyseal ossification, Rickets, Sparse bone t...	OMIM:277440
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Widely ...	ORPHA:2152
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypertension, Pigmentary retinopathy	ORPHA:110
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:829
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Vasculitis, Abnormal circulating interl...	ORPHA:70578
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Abnormality of the dentition, Short dental root, Delayed ossif...	OMIM:271510
Brachydactyly, Type B1	Delayed eruption of permanent teeth, Joint contracture of the hand, Camptodactyly	OMIM:113000
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Contractures of the large joints, Retinal degeneration	ORPHA:96179
Osteogenesis Imperfecta	Osteopenia, Aortic regurgitation, Somatic sensory dysfunction, Abnormality of dental color, Ataxi...	ORPHA:666
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Charge Syndrome	Delayed eruption of teeth, Facial palsy, Cleft upper lip, Abnormal soft palate morphology, Narrow...	ORPHA:138
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Impaired pain sensation, Self-injurious behavior, Everted lower lip vermilio...	ORPHA:293987
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Increased circul...	ORPHA:101330
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Autoimmunity, Systemic lupus erythematosus, Decreased circulating total IgM, Rheum...	ORPHA:183675
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Eiken Syndrome	Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio...	OMIM:600002
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thr...	ORPHA:227990
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Pitt-Hopkins Syndrome	Aganglionic megacolon, Ataxia, Aggressive behavior, Hypopigmented skin patches, Gait ataxia, Wide...	ORPHA:2896
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Osteoporosis, Subcutaneous ossification, Cognitive impairment, Enamel ...	OMIM:103580
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy...	ORPHA:2556
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Tricuspid regurgitation, Carious teeth, Splenomegaly, Flexion contract...	OMIM:253200
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Short dental ro...	ORPHA:93357
Holoprosencephaly-Craniosynostosis Syndrome	Cognitive impairment, Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:2163
Proteus Syndrome	Decreased muscle mass, Central heterochromia, Pulmonary embolism, Abnormality of skin pigmentatio...	ORPHA:744
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Intrav...	ORPHA:420741
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Primary Biliary Cholangitis	Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti...	ORPHA:186
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Neu...	OMIM:607944
Juvenile Nephropathic Cystinosis	Polydipsia, Hypovolemia	ORPHA:411634
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Abnormality of the dentition	ORPHA:90368
Proximal Renal Tubular Acidosis	Polydipsia, Enamel hypomineralization, Hypovolemia, Reduced bone mineral density	ORPHA:47159
Helix Syndrome	Polydipsia	OMIM:617671
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Confusion, ...	ORPHA:31826
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Cognitive impairment	OMIM:612462
Bohring-Opitz Syndrome	Retinal atrophy, Facial hypotonia, Micrognathia, Cleft lip, Bilateral wrist flexion contracture, ...	ORPHA:97297
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Chronic neutropenia, Epistaxis, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, ...	ORPHA:79259
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enam...	OMIM:264700
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thr...	ORPHA:227982
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Patent ductus arteriosus, Dental crowding, Persistence of primary teeth	OMIM:619769
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ...	ORPHA:90003
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Weismann-Netter Syndrome	Calvarial hyperostosis, Delayed eruption of permanent teeth	OMIM:112350
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
3M Syndrome	Delayed eruption of teeth, Scapular winging, Abnormal dental enamel morphology, Everted lower lip...	ORPHA:2616
Yellow Fever	Shock, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating crea...	ORPHA:99829
Hypomagnesemia 3, Renal	Polydipsia	OMIM:248250
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Autoimmunity, Spider hemangioma, Portal hypertension,...	ORPHA:171
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Polydipsia	ORPHA:93111
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei...	ORPHA:740
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscul...	OMIM:127550
Netherton Syndrome	Irregular hyperpigmentation, Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Joint contractur...	OMIM:247200
Orotic Aciduria	Atrial septal defect, Ventricular septal defect, Impaired T cell function	OMIM:258900
Syndromic Diarrhea	Aortic regurgitation, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent infectio...	ORPHA:84064
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Enamel hypoplasia, Vi...	OMIM:240300
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Cleft uppe...	ORPHA:50
Gapo Syndrome	Facial palsy, Micrognathia, Retinal arteriolar tortuosity, High, narrow palate, Thick lower lip v...	OMIM:230740
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Patent d...	ORPHA:1465
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cardiospondylocarpofacial Syndrome	High, narrow palate, Mitral regurgitation, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Micrognathia, Cleft palate, Downturned corners of mouth, Pigmentary reti...	OMIM:614230
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Osteoglosphonic Dysplasia	Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted teeth, Abnormal bone ossification	ORPHA:2645
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:1496
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Craniosynostosis, Premature loss of primary teeth, Tremor, Splenomegal...	ORPHA:667
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Osteolytic defects of the pha...	ORPHA:2484
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl...	OMIM:619503
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Hypoalbuminemia	OMIM:613070
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Micrognathia, Abnormality of the gingiva, Dysph...	ORPHA:798
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Optic disc coloboma, Iris coloboma, Chorioretinal coloboma	OMIM:602499
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Osteoporosis...	OMIM:268400
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Raynaud phenomenon, Lip ...	OMIM:613471
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Focal Dermal Hypoplasia	Delayed eruption of teeth, Linear hyperpigmentation, Diastasis recti, Congenital diaphragmatic he...	OMIM:305600
Thrombocytopenia 1	Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate...	OMIM:313900
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Cleft palate, Pigmentary retinop...	OMIM:309801
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Abnormality of the dentition, Osteoporosis, Reduced bone mineral density, Pigmentary retinopathy,...	ORPHA:2235
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia	ORPHA:3008
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Delayed eruption of permanent teeth	ORPHA:839
Lowry-Wood Syndrome	Pigmentary retinopathy, Thick vermilion border, Elbow flexion contracture	OMIM:226960
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Gingival fibromatosis, Narrow palate, Telangiectasi...	OMIM:266270
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Hereditary Orotic Aciduria	Patent ductus arteriosus, Impaired T cell function	ORPHA:30
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Acute l...	ORPHA:289
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone tr...	ORPHA:289157
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level	OMIM:114065
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Smooth philtrum, Transient ischemic attack, Optic nerve hypoplasia, Sagittal craniosynostosis, Hy...	ORPHA:500150
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Congenital Analbuminemia	Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, Low pulse pressu...	ORPHA:86816
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Splenomegaly, Patent ductus arteriosus, Gingiva...	OMIM:135500
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Simpl...	OMIM:220111
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Craniosynostosis, Sagittal craniosynostosis, De...	OMIM:101200
Progeroid Short Stature With Pigmented Nevi	Bicuspid aortic valve, Allergic rhinitis, Impaired T cell function, Allergic conjunctivitis, Vomi...	OMIM:176690
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Long philtrum...	ORPHA:85201
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Sagittal craniosynostosis, Abnormality of the d...	ORPHA:79500
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrogna...	OMIM:619269
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Flexion contracture, Long philtrum	ORPHA:263463
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Alport Syndrome	Macular degeneration, Retinal flecks, Hypertension, Dysphagia	ORPHA:63
Anterior Cutaneous Nerve Entrapment Syndrome	Inguinal hernia, Allodynia, Decreased body weight	ORPHA:51890
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Early ossification of capital femoral epiphyses, Retinal degeneration	OMIM:208500
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m...	OMIM:311300
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Scapular winging, Cleft palate, Failure of eruption of perma...	OMIM:272460
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, Cerebral atrophy, High palate, Macular hypoplasia, Open...	ORPHA:1675
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Joubert Syndrome 8	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:612291
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia	OMIM:602522
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Psoriasis 14, Pustular	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Furrowed tongu...	OMIM:614204
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic...	OMIM:180700
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retino...	OMIM:610651
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function	OMIM:201100
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Mandibular prognathia, Camptodactyly of finger, Conge...	ORPHA:373
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rickets, Rod-cone dyst...	OMIM:268315
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Delayed eruption of teeth, Tricuspid regurgitation, Mitral stenosis, Campto...	OMIM:143095
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Craniosyno...	OMIM:166250
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s...	OMIM:119600
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Congenital diaphragmatic hernia, Aggressive ...	OMIM:135900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenom...	OMIM:612852
Unilateral Polymicrogyria	Abnormal posturing, Perisylvian polymicrogyria, Epistaxis	ORPHA:268943
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen...	ORPHA:1435
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Patent ductus arteriosus, Generalized muscle hy...	OMIM:235730
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Robinow Syndrome	Dental crowding, Micrognathia, Persistence of primary teeth, Dental malocclusion, Gingival overgr...	ORPHA:97360
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Generalized hyperpigmentation, Abnormal dental enamel morphology, Coni...	ORPHA:1071
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Congenital hypertrophy of retinal pigment epithelium, Eruptio...	OMIM:175100
Hardikar Syndrome	Cleft soft palate, Portal hypertension, Hypersplenism, Splenomegaly, Patent ductus arteriosus, He...	OMIM:301068
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Atrial septal defect, Acne, Impaired T cell function, Bowel incontin...	ORPHA:567
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Delayed eruption of primary teeth, Dilated cardiomyopathy, Hyperpigmented streaks...	OMIM:300952
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Neutropenia, Hyperpigmentation of the skin	ORPHA:293173
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Obesity, Hypergl...	ORPHA:444077
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Cornelia De Lange Syndrome	Delayed eruption of teeth, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Downturne...	ORPHA:199
Sotos Syndrome	Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Aggressive behavior, Tremor, C...	ORPHA:821
Floating-Harbor Syndrome	Restlessness, Short attention span, Impulsivity, Aggressive behavior, Hypoplasia of the maxilla, ...	ORPHA:2044
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Abnormality of cytokine secretion, Portal hypertension	ORPHA:567983
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Rickets	OMIM:219900
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Congenital hypertrophy of retinal pigment epit...	ORPHA:79665
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Autoimmunity, Antinuclear antibody positivity, Iritis...	ORPHA:85436
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Psoriasiform dermatitis, Abnormal heart morphology	ORPHA:2237
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect, Impaired T cell function	OMIM:192430
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Multi...	ORPHA:3353
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Osteolytic defects of the phal...	OMIM:309350
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Papilledema, Delayed eruption of teeth, Dental crowding, Sagittal craniosy...	OMIM:614188
Knobloch Syndrome	Retinal detachment, Patent ductus arteriosus, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De...	OMIM:620099
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Delayed ossification of carpal bones	OMIM:600373
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Congenital hypertrophy of retinal pigment epit...	ORPHA:733
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Hypoplasia of the tooth germ, Hypoplasia of the maxilla, Co...	OMIM:182250
Scorpion Envenomation	Glycosuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Hy...	ORPHA:466677
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Carious teeth, Progressive cerebell...	ORPHA:2834
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Benign Schwannoma	Abnormality of the liver, Abnormality of the adrenal glands, Allodynia, Abnormality of peripheral...	ORPHA:252164
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Scapular winging, Delayed eruption of teeth, Hypoplasia of the mus...	OMIM:278250
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Periventricular heterotopia, Micrognathia, Knee flexi...	OMIM:606170
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Digeorge Syndrome	Acne, Impaired T cell function, Ventricular septal defect, Seborrheic dermatitis, Patent ductus a...	OMIM:188400
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines, Hypodontia, Conical tooth	OMIM:612132
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Hypertension, Abnormality of the dentition	ORPHA:2036
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, H...	OMIM:601803
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Neural Tube Defects, Susceptibility To	Lipoma, Multiple lipomas	OMIM:182940

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 Ccl2

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 Ccl2.

There are 11 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The CCR6/CCL20 axis expands RORγt⁺ Tregs to protect from glomerulonephritis.	Kidney international (March 2023)	Ccl20^{tm1b(EUCOMM)Hmgu}	36924892
CCL27 is a crucial regulator of immune homeostasis of the skin and mucosal tissues.	iScience (May 2022)	Ccl27a^{tm1(KOMP)Vlcg}	PMC9157018
Constitutive Expression of CCL22 Is Mediated by T Cell-Derived GM-CSF.	Journal of immunology (Baltimore, Md. : 1950) (September 2020)	Ccl22^{tm1(KOMP)Vlcg}	32907996
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ccl20^{em1(IMPC)Wtsi} Ccl22^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ccl20^{em1(IMPC)Wtsi} Ccl22^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ccl22^{tm1a(EUCOMM)Wtsi}	PMC6459510
CCL22 controls immunity by promoting regulatory T cell communication with dendritic cells in lymph nodes.	The Journal of experimental medicine (March 2019)	Ccl22^{tm1(KOMP)Vlcg}	30910796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ccl22^{tm1a(EUCOMM)Wtsi} Ccl22^{tm1a(EUCOMM)Wtsi}	PMC5827107
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Ccl26^{tm1.1(KOMP)Vlcg}	PMC5503261
CCL20/CCR6 Signaling Regulates Bone Mass Accrual in Mice.	Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (March 2016)	Ccl20^{tm1c(EUCOMM)Hmgu} Ccl20^{tm1b(EUCOMM)Hmgu}	26890063
C-C chemokine receptor type-4 transduction of T cells enhances interaction with dendritic cells, tumor infiltration and therapeutic efficacy of adoptive T cell transfer.	Oncoimmunology (October 2015)	Ccl22^{tm1(KOMP)Vlcg}	PMC4859768

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
Ccl2^{em1(IMPC)Marc}	Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us