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Gene: Slc33a1 MGI:1332247

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 33 (acetyl-CoA transporter), member 1

Synonyms:

D630022N01Rik, Acatn

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 Slc33a1 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 Slc33a1 (3 diseases)
Human diseases predicted to be associated with Slc33a1 (975 diseases)

The table below shows human diseases associated to Slc33a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Dominant Spastic Paraplegia Type 42	Degeneration of the lateral corticospinal tracts, Spinal cord lesion	ORPHA:171863
Huppke-Brendel Syndrome	CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental cataract, Decreased circ...	OMIM:614482
Spastic Paraplegia 42, Autosomal Dominant		OMIM:612539

The table below shows human diseases predicted to be associated to Slc33a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Meningiti...	OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Recurrent enteroviral infections, Panhypogammaglobuli...	OMIM:307200
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Lymphoma, ...	OMIM:240500
Zika Virus Disease	Congenital intracerebral calcification, Myelitis, Vomiting, Pruritus, Skin rash, Infectious encep...	ORPHA:448237
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Jaundice, Incr...	ORPHA:540
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Recurrent lower respirato...	ORPHA:436159
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased...	ORPHA:449395
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac...	OMIM:618108
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop...	ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Autosomal Agammaglobulinemia	Recurrent infections, Bronchiectasis, Verrucae, Hepatitis, Diarrhea, Sepsis, Recurrent respirator...	ORPHA:33110
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea,...	OMIM:607594
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Prostatitis, Abnormal lacrimal gland morphology, Abnormality of ...	ORPHA:449563
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi...	OMIM:601457
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Immunodeficiency 46	Sepsis, Intermittent thrombocytopenia, Chronic diarrhea, Recurrent sinopulmonary infections, Neut...	OMIM:616740
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,...	OMIM:616098
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Sepsis, Cerebral atrophy, Cerebral cortex with spongiform changes, Astrocyt...	ORPHA:204
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye...	ORPHA:1163
Lymphoproliferative Syndrome 2	Recurrent infections, Recurrent pneumonia, Decreased lymphocyte proliferation in response to mito...	OMIM:615122
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le...	ORPHA:169160
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Skin rash, Increased cir...	ORPHA:3392
Cryptococcosis	Pneumonia, Cerebral cortical atrophy, Vomiting, Sepsis, Osteomyelitis, Neoplasm, Abnormal cranial...	ORPHA:1546
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Hepatitis, Osteomyelitis, Neoplasm, Hypocalcemia, Skin rash, Glossop...	ORPHA:47
Adrenomyeloneuropathy	Male sexual dysfunction, Female sexual dysfunction, Urinary retention, Urinary bladder sphincter ...	ORPHA:139399
O'Sullivan-Mcleod Syndrome	Eosinophilia, Atrophy of the spinal cord, Tremor, Increased circulating antibody level	ORPHA:99965
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp...	ORPHA:98813
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis m...	OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Jaundice...	OMIM:603552
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Hyperlipidemia, Axonal degeneration, Decreased number of peripheral myelinated nerve...	OMIM:604484
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Leukoencephalopathy, Urinary incontinence, Lateral ventricle dilatation, Cerebral atrophy, Abnorm...	OMIM:221770
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatiti...	ORPHA:31202
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Diarrhea, Vomiting, Hepatitis, Acute kidney injury, Increas...	ORPHA:454836
Neuromyelitis Optica Spectrum Disorder	Myelitis, Functional abnormality of the bladder, Peripheral demyelination, Optic neuritis, Neuron...	ORPHA:71211
Malakoplakia	Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Abnormality of the ...	ORPHA:556
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Subacute Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Leukocytosis, Tremor, Severe infection, Axonal loss, Demyelinating moto...	ORPHA:206594
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Peripheral demyelination, Hypomethioninemia, Neutropenia, Jaundice, Stomatitis, Methylmalonic aci...	ORPHA:79282
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Global brain atrophy, Focal T2 hyperintense basal...	ORPHA:363558
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Hypotriglyceridemia, Foot osteomyelitis, Decreased circulating apolipoprotein B concentration, Pe...	OMIM:256840
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Neurodegeneration, Lymphopen...	OMIM:620210
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Elevated circulatin...	ORPHA:36234
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne...	ORPHA:100070
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent infections, Gastroesophageal reflux, Basal ganglia necrosis, Lateral ventricle dilatati...	ORPHA:79243
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Atopic dermatitis, Cataract, Sensory axonal neuropathy, Mixed demyelinating and axonal polyneurop...	ORPHA:466768
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent viral infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion...	OMIM:300853
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Impotence, Urinary retention, Aspiration pneumonia, Recurrent urinary...	ORPHA:99027
Granulomatosis With Polyangiitis	Intestinal obstruction, Hematuria, Prostatitis, Inflammatory abnormality of the eye, Elevated cir...	ORPHA:900
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Secondary mic...	OMIM:617672
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Recurrent lower...	OMIM:308230
Zygomycosis	Diarrhea, Abnormal cranial nerve morphology, Ileitis, Pustule, Hematological neoplasm, Acute infe...	ORPHA:73263
Aicardi-Goutieres Syndrome 7	Diarrhea, Basal ganglia calcification, Pancytopenia, Chilblains, Increased circulating antibody l...	OMIM:615846
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Japanese Encephalitis	Diarrhea, Increased circulating antibody level, Opisthotonus, Neutrophilia, Paucity of anterior h...	ORPHA:79139
Peroxisome Biogenesis Disorder 8B	Cataract, Optic atrophy, Cerebellar atrophy, Leukodystrophy, Decreased liver function, Cerebellar...	OMIM:614877
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Stomac...	ORPHA:2494
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Axonal degeneration, Abnormal lower motor neuron morphology, Perip...	OMIM:602433
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
Cerebral Visual Impairment	Optic atrophy, Unusual CNS infection, Central nervous system degeneration, Focal cortical dysplas...	ORPHA:447788
Immunodeficiency 53	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent urinary tract infect...	OMIM:617585
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Sepsis, Hepatitis, Leukopenia, Leukocytosis, Skin rash, Hyperam...	ORPHA:292
Congenital Neuronal Ceroid Lipofuscinosis	Cerebral hypoplasia, Cerebellar atrophy, Increased circulating lactate dehydrogenase concentratio...	ORPHA:168486
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Recurrent candida infe...	OMIM:610163
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lym...	ORPHA:158057
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Hand tremor, Tremor, Axonal degeneration, Decreased number of peripheral myel...	OMIM:302800
Developmental And Epileptic Encephalopathy 14	Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Microcephaly, Delayed CNS myelinati...	OMIM:614959
Igg4-Related Submandibular Gland Disease	Xerostomia, Abnormal salivary gland morphology, Increased circulating IgE level, Increased circul...	ORPHA:449432
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Hyperammonemia, 3-Methylglu...	ORPHA:1194
Familial Infantile Bilateral Striatal Necrosis	Optic atrophy, Gastroesophageal reflux, Small basal ganglia, Astrocytosis, Basal ganglia cysts, D...	ORPHA:225154
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Verrucae, Recurrent viral infections, Recurrent respiratory infecti...	ORPHA:217390
Cerebrooculofacioskeletal Syndrome 1	Cataract, Recurrent pneumonia, Cerebellar atrophy, Neurodegeneration, Basal ganglia calcification...	OMIM:214150
Immunodeficiency 83, Susceptibility To Viral Infections	Meningitis, Gliosis, Herpes simplex encephalitis	OMIM:613002
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Glandular hypospadias, Telecanthus, Abnormal ...	ORPHA:2575
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Microcornea, Cerebral atrophy, Decreased testicular size, Peripheral demyelination, Axonal degene...	OMIM:604168
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Spastic Paraplegia 84, Autosomal Recessive	Cervical spinal cord atrophy, Urinary urgency, Crohn's disease	OMIM:619621
Krabbe Disease	Optic atrophy, Vomiting, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, C...	OMIM:245200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Cerebral cortical atrophy, Astrocytosis, Neuronal loss in central nervous system, Urinary inconti...	OMIM:600795
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Cerebral hypoplasia, Small basal ganglia, Abnormal basal ganglia morphology, Neuronal loss in the...	ORPHA:86822
Legionnaires Disease	Bone marrow hypocellularity, Diarrhea, Sepsis, Hepatitis, Lymphopenia, Renal insufficiency, Splen...	ORPHA:549
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene...	OMIM:214400
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Tremor, Abnormal im...	ORPHA:3162
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Skin r...	ORPHA:809
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Decreased circulating antibod...	ORPHA:397596
Autosomal Dominant Spastic Paraplegia Type 9B	Gastroesophageal reflux, Postural tremor, Peripheral axonal neuropathy, Atrophy of the spinal cor...	ORPHA:447757
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Homocystinuria, Cystathioninemia, Abnormal circulating enzyme concentration or act...	ORPHA:395
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Decreased urinary urate, Peripheral demyelination, Increased urinary hypoxanthine l...	OMIM:252150
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Acquired Ichthyosis	Lymphoma, Neoplasm, Renal insufficiency, Pruritus, Sarcoma, Recurrent skin infections, Multiple m...	ORPHA:454
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Leukoencephalopathy, Global brain atrophy, CNS demyelination, Gliosis, Neuronal loss in central n...	OMIM:221820
Trichothiodystrophy	Diffuse cerebellar atrophy, Cryptorchidism, Epicanthus, Neutropenia, Cerebral dysmyelination, Hig...	ORPHA:33364
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Recurrent viral infections, Lymphopenia, Decreased CD4:...	OMIM:619573
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Cerebral atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting ...	ORPHA:445062
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Congenital pyloric ...	ORPHA:79403
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Sparse eyebrow, Sepsis, Eczematoid dermatitis...	OMIM:256500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Diarrhea, Vomiting, Increased circulating ferritin concentration, Subcortical ...	ORPHA:3240
Muckle-Wells Syndrome	Renal amyloidosis, Recurrent aphthous stomatitis, Leukocytosis, Renal insufficiency, Conjunctival...	OMIM:191900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Nephrotic syndrome, Reduced delayed hypersensitivity, Mal...	OMIM:603909
Aicardi-Goutieres Syndrome 6	Leukodystrophy, Cerebral calcification, Splenomegaly, Chilblains, Tremor, Microcephaly, Increased...	OMIM:615010
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Chronic tinea infection, Increased circulating IgE leve...	OMIM:212050
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Recurrent cutaneous abscess for...	OMIM:618131
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Male pseudohermaphroditism, Abnormality ...	ORPHA:847
Charcot-Marie-Tooth Disease, Type 4C	Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph...	OMIM:601596
L-2-Hydroxyglutaric Aciduria	Neoplasm of the nervous system, Infectious encephalitis	ORPHA:79314
Inherited Creutzfeldt-Jakob Disease	Diffuse spongiform leukoencephalopathy, Global brain atrophy, Central nervous system degeneration...	ORPHA:282166
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,...	OMIM:618944
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Verrucae, Recurrent viral infections, Eczematoi...	OMIM:620632
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c...	OMIM:616452
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Diarrhea, Recurrent viral infections, Protracted diarrhea, Pancytopenia, ...	ORPHA:572
Immunodeficiency 70	Verrucae, Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive h...	OMIM:618969
Listeriosis	Arteritis, Diarrhea, Abscess, Pustule, Jaundice, Meningitis, Endocarditis, Unusual CNS infection,...	ORPHA:533
Superficial Siderosis	Abnormal corpus callosum morphology, Vomiting, Functional abnormality of the bladder, Cerebellar ...	ORPHA:247245
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Cerebellar atrophy, Tremor, Axonal degeneration, Elevated circulating creatine k...	OMIM:208920
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Motor axonal neuropathy, At...	ORPHA:35689
Epidermal Nevus Syndrome	Astigmatism, Atrophy of the spinal cord, Spinal cord compression, Lipoma, Rhabdomyosarcoma, Polyc...	ORPHA:35125
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Familial Cold Autoinflammatory Syndrome 1	Renal amyloidosis, Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein co...	OMIM:120100
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Pruritus, Con...	OMIM:603165
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction, Periventricular cysts, Abnormal periventricular white matt...	ORPHA:363722
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Tremor, ...	ORPHA:99745
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Hypoplasia of...	ORPHA:329308
Scrub Typhus	Renal insufficiency, Splenomegaly, Skin rash, Infectious encephalitis, Tremor, Hyperhidrosis, Myo...	ORPHA:83317
Gm1 Gangliosidosis	Optic atrophy, Gastroesophageal reflux, Generalized dystonia, Cherry red spot of the macula, Aspi...	ORPHA:354
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, ...	OMIM:607734
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax...	ORPHA:98856
Autosomal Recessive Spastic Paraplegia Type 5A	Cataract, Abnormality of the urinary system, Abnormal cerebral white matter morphology, Atrophy o...	ORPHA:100986
Leigh Syndrome	Neuronal loss in basal ganglia, Leukodystrophy, 3-Methylglutaconic aciduria, Agenesis of corpus c...	ORPHA:506
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Charcot-Marie-Tooth Disease Type 1F	Urinary incontinence, Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneurop...	ORPHA:101085
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Abnormal vagina morphology, Pancytopenia, Hematuria, Dysphagia, Gastroesoph...	ORPHA:99921
Poikiloderma With Neutropenia	Recurrent pneumonia, Sparse eyebrow, Increased circulating lactate dehydrogenase concentration, S...	OMIM:604173
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
De Sanctis-Cacchione Syndrome	Optic atrophy, Global brain atrophy, Keratitis, Leukodystrophy, Cerebral atrophy, Bilateral crypt...	OMIM:278800
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Decreased urinary urate, Increased urinary taurine, Ectopia lentis, Cerebral atroph...	OMIM:252160
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Lymphoma, Episcleritis, Skin rash, Splenomegaly, Renal insufficiency, Hematuria, Protei...	ORPHA:36412
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology, Fo...	ORPHA:2822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Abnormal cerebral white matter morphology, Axonal degeneration, Elevated circulating creatine kin...	OMIM:618138
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
C1Q Deficiency 3	Discoid lupus rash, Recurrent bacterial meningitis	OMIM:620322
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Global brain atrophy, Cerebellar atrophy, Motor axonal neuropathy, Dysplastic corpus callosum, Mi...	OMIM:618276
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Female hypogonadism, Diarrhea, Male hypogonadism, Chronic mucocutan...	OMIM:240300
Pfapa Syndrome	Recurrent pharyngitis, Splenomegaly, Arthritis, Infectious encephalitis	ORPHA:42642
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Keratoconus, Elevated gamma-glutamyltransferase level, Elevated circulating hepa...	OMIM:242150
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Neuro...	OMIM:616239
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palat...	OMIM:147060
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B ...	OMIM:613501
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Focal Cortical Dysplasia, Type Ii	Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C...	OMIM:607341
Mannosidosis, Alpha B, Lysosomal	Cerebral cortical atrophy, Macroglossia, Spinocerebellar tract disease in lower limbs, Cerebellar...	OMIM:248500
Q Fever	Pneumonia, Unusual infection, Elevated circulating hepatic transaminase concentration, Granuloma,...	ORPHA:781
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Axonal degeneration, Peripheral axonal neuropathy, C...	OMIM:620011
Proteasome-Associated Autoinflammatory Syndrome 3	Recurrent infections, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hyper...	OMIM:617591
Syndromic Diarrhea	Intractable diarrhea, Renal hypoplasia, Panhypogammaglobulinemia, Lymphopenia, Villous atrophy, S...	ORPHA:84064
Meningococcal Meningitis	Sepsis, Renal insufficiency, Skin rash, Infectious encephalitis, Papilledema, Elevated circulatin...	ORPHA:33475
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc...	OMIM:233600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Recurrent upper respiratory ...	ORPHA:277
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Amyotrophy, Hereditary Neuralgic	Upslanted palpebral fissure, Axonal degeneration, Epicanthus, Peripheral axonal degeneration, Pto...	OMIM:162100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Cerebral calcificatio...	ORPHA:505248
Friedreich Ataxia	Optic atrophy, Sensory axonal neuropathy, Urinary bladder sphincter dysfunction, Cervical spinal ...	ORPHA:95
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti...	OMIM:300400
Omenn Syndrome	Pneumonia, Sepsis, Lymphoma, Pruritus, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Severe viral infection, Skin ...	ORPHA:319251
Hemimegalencephaly	Optic atrophy, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hyperintensity of ce...	ORPHA:99802
Microcephaly 10, Primary, Autosomal Recessive	Cataract, Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis of...	OMIM:615095
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en...	ORPHA:779
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Leukodystrophy, Pseudobulbar paralysis, Constipation, Corpus callosum atrophy, Gliosis, Autonomic...	OMIM:169500
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Gliosis, Axonal loss, Dystonia, Athetosis, Dysphagia	OMIM:300857
Biotinidase Deficiency	Diffuse cerebellar atrophy, Optic atrophy, Diarrhea, Vomiting, Organic aciduria, Skin rash, Hyper...	OMIM:253260
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate	OMIM:137215
Neurocutaneous Melanocytosis	Neoplasm, Renal hypoplasia/aplasia, Syringomyelia, Melanoma, Infectious encephalitis	ORPHA:2481
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce...	OMIM:619281
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neuronal loss in central nervous system, U...	OMIM:607136
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Autosomal Recessive Spastic Paraplegia Type 39	Atrophy of the spinal cord, Cerebellar atrophy, Motor axonal neuropathy	ORPHA:139480
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte...	OMIM:619079
Nipah Virus Disease	Recurrent pharyngitis, Tremor, Infectious encephalitis	ORPHA:99825
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG ...	OMIM:620376
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Cataract, Osteomyelitis, Axonal degeneration, Gastrointestinal dysmotility, A...	ORPHA:88628
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy	ORPHA:275864
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Abnormal upper motor neuron morphology, Neuronal loss in the cerebral corte...	ORPHA:275872
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Axonal degeneration, Peripheral axonal degeneration, Constipation, Hyperhidrosis, Urinary inconti...	OMIM:604320
Lymphedema-Distichiasis Syndrome	Cataract, Ectropion, Recurrent urinary tract infections, Spinal arachnoid cyst, Renal duplication...	ORPHA:33001
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Peripheral demyelination, Abnormal periventricular white matter morphology, CNS demyelination, Ur...	OMIM:249900
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur...	OMIM:269840
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Acute Disseminated Encephalomyelitis	Diffuse white matter abnormalities, Myelitis, Vomiting, Post-vaccination measles, Herpes simplex ...	ORPHA:83597
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia...	OMIM:312863
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Meningitis, Herpes simplex encephalitis	OMIM:617900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Recurrent enteroviral infections, Recurrent vir...	ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Diarrhea, Recurrent viral infections, Increased circulating...	OMIM:102700
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Muckle-Wells Syndrome	Nephropathy, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Recurrent aphthous stomatitis,...	ORPHA:575
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia, Lacticaciduria, Elevated urinary quinolinic acid level, Axonal degeneration	OMIM:618811
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,...	ORPHA:906
Tumoral Calcinosis, Normophosphatemic, Familial	Abnormal blood phosphate concentration, Conjunctivitis, Abnormal circulating calcium concentration	OMIM:610455
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Recurrent respiratory infections, Increased...	ORPHA:634
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
L-2-Hydroxyglutaric Aciduria	Leukoencephalopathy, Optic atrophy, Global brain atrophy, Cerebellar atrophy, L-2-hydroxyglutaric...	OMIM:236792
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Hypertrophic nerve changes, Action tremor, Decreased number of periph...	OMIM:180800
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Cockayne Syndrome Type 3	Lentiglobus, Basal ganglia calcification, Subcortical white matter calcifications, Peripheral axo...	ORPHA:90324
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul...	ORPHA:276
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Axonal degeneration/regeneration, Axonal degeneration	OMIM:614436
Whipple Disease	Uveitis, Diarrhea, Gastrointestinal hemorrhage, Splenomegaly, Infectious encephalitis, Hyponatrem...	ORPHA:3452
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Cataract, Recurrent urinary tract infections, Peripheral demyelination, Attenuatio...	OMIM:609033
Crigler-Najjar Syndrome	Jaundice, Infectious encephalitis	ORPHA:205
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Corneal perforation, Increased red blood cell count, Vomiting, Granuloma, Unusual skin...	ORPHA:68
Kid Syndrome	Neoplasm of the skin, Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands,...	ORPHA:477
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Optic atrophy, Sparse eyebrow, CNS hypomyelination, Cerebellar atrophy, Secondary microcephaly, U...	OMIM:617193
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Sepsis, Lymphopenia, Le...	ORPHA:247353
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner...	OMIM:620542
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Gliosis,...	OMIM:105550
Autoinflammation With Arthritis And Dyskeratosis	Laryngeal papilloma, Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, ...	OMIM:617388
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent...	OMIM:614069
Incontinentia Pigmenti	Cataract, Cerebral cortical atrophy, Verrucae, Keratitis, Skin rash, Infectious encephalitis, Ret...	ORPHA:464
Nijmegen Breakage Syndrome	Diarrhea, Glioma, Recurrent otitis media, Neurodegeneration, Recurrent bronchitis, Epicanthus, Pr...	OMIM:251260
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma, Pruritus	OMIM:270300
Shigellosis	Microangiopathic hemolytic anemia, Urethritis, Abscess, Abnormal blood ion concentration, Corneal...	ORPHA:810
Methionine Adenosyltransferase I/Iii Deficiency	Hypermethioninemia, Dystonia, Peripheral demyelination, CNS demyelination	OMIM:250850
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ...	OMIM:602562
Leukoencephalopathy With Vanishing White Matter 1	Leukoencephalopathy, Optic atrophy, Cessation of head growth, Cerebral hypomyelination, CNS demye...	OMIM:603896
Inflammatory Skin And Bowel Disease, Neonatal, 1	Bloody diarrhea, Increased circulating IgE level, Villous atrophy, Duodenitis, Pustule, Erythrode...	OMIM:614328
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Pancytopenia, Elev...	OMIM:614576
Aicardi-Goutieres Syndrome 5	Leukoencephalopathy, Increased circulating interferon-gamma concentration, Leukodystrophy, Intrac...	OMIM:612952
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Diarrhea, Vomiting, Cerebral atrophy, Generalized dystonia, Neurodegeneration, Pancytop...	OMIM:618321
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Recurrent acute respiratory tract infection	ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy...	OMIM:606483
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis, Simplified gyral pattern	OMIM:618328
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Elevated total serum tryptase, Abnormality of th...	ORPHA:79456
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ...	OMIM:243700
American Trypanosomiasis	Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Myo...	ORPHA:3386
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Microcornea, Cataract, Hypogonadism, Intestinal obstruction, Mic...	OMIM:601675
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Atrophy of the spinal cord	OMIM:612020
Omenn Syndrome	Pneumonia, Diarrhea, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hy...	OMIM:603554
Tangier Disease	Peripheral demyelination, Facial diplegia, Hypertriglyceridemia, Splenomegaly, Elevated circulati...	OMIM:205400
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Axonal degeneration	OMIM:616155
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ...	ORPHA:101097
Hypertrophic Neuropathy Of Dejerine-Sottas	Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph...	OMIM:145900
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ...	OMIM:311070
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Progressive microcephaly, Erythroderma, Anal atresia, Recurrent infect...	OMIM:617425
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Nephrolithiasis, Methemoglobinemia...	ORPHA:56
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n...	OMIM:118200
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Protracted diarrhea,...	ORPHA:331206
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Basal lamina onion bulb formation, Peripheral demyelination, Decreased number of peripheral myeli...	OMIM:614895
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr...	OMIM:619802
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebrow, Demyelinating motor neuropath...	OMIM:182815
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Tay-Sachs Disease	Precocious puberty, Increased serum beta-hexosaminidase, Optic atrophy, Global brain atrophy, Cer...	ORPHA:845
Spastic Paraplegia 11, Autosomal Recessive	Cerebral cortical atrophy, Urinary bladder sphincter dysfunction, Abnormal periventricular white ...	OMIM:604360
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Verrucae, Abnormal...	OMIM:193670
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Cerebral calcification, Neutrophilia...	OMIM:619644
Stxbp1-Related Encephalopathy	Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Dystonia, Delayed myelination	ORPHA:599373
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Cerebellar atrophy, Gliosis, Torticollis, Dysphagia	OMIM:618369
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Axonal degeneration/regeneration, Peripheral axonal atrophy, Foot osteomyelitis, Decreased number...	OMIM:600882
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Neuronal loss in basal ganglia, Cerebellar atrophy, Focal cortical dysplasia, Cerebral atrophy, B...	OMIM:604377
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis	ORPHA:160148
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cereb...	ORPHA:497764
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe...	OMIM:118210
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Atrophy/Degeneration involving the spinal cord, Sensory axonal neuropathy, Intestinal p...	OMIM:607459
Sweet Syndrome	Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Pustule, Chron...	ORPHA:3243
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Erythroderma, Intent...	OMIM:133190
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Gastroesophageal reflux, Astrocytosis, Protruding tongue, Pontocerebellar atrophy, ...	ORPHA:258
Cerebrotendinous Xanthomatosis	Myelopathy, Resting tremor, Abnormal retinal vascular morphology, CNS demyelination, Optic disc p...	ORPHA:909
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Eleva...	ORPHA:158061
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Bas...	OMIM:256040
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Peripheral demyelination, Onion bulb formation	OMIM:615185
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cel...	OMIM:615214
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Diffuse cerebellar atrophy, Vomitin...	ORPHA:101111
Liver Disease, Severe Congenital	Diarrhea, Recurrent otitis media, Hyperbilirubinemia, Epicanthus, Delayed CNS myelination, Jaundi...	OMIM:619991
Immunodeficiency 84	Splenomegaly, B-cell lymphoma, Perianal abscess, B lymphocytopenia, Recurrent bacterial infection...	OMIM:619437
Lassa Fever	Menometrorrhagia, Diarrhea, Oliguria, Sepsis, Jaundice, Conjunctivitis, Increased circulating IgM...	ORPHA:99824
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Huntington Disease	Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system	OMIM:143100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Elevated circulating hepatic transaminase conc...	OMIM:615895
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchit...	ORPHA:32960
Cysticercosis	Spinal arachnoid cyst, Cerebral calcification, Infectious encephalitis, Spinal cord lesion, Incre...	ORPHA:1560
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Cerebral cortical atrophy, Vomiting, Sensory axonal neuropathy, Cerebellar atrophy...	OMIM:271245
Maffucci Syndrome	Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto...	ORPHA:163634
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Cerebellar atrophy, Neurodegeneration, Abnormal periventricular white matter morph...	OMIM:612319
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Weiss-Kruszka Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Decreased response to growth hormone stimu...	ORPHA:502430
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Biotinidase Deficiency	Optic atrophy, Recurrent viral infections, Myelopathy, Eczematoid dermatitis, Organic aciduria, R...	ORPHA:79241
Pityriasis Rubra Pilaris	Eczematoid dermatitis, Neoplasm, Pustule, Erythroderma, Pruritus	ORPHA:2897
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Chronic diarr...	OMIM:142680
Amyotrophy, Monomelic	Cervical spinal cord atrophy	OMIM:602440
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Peripheral demy...	OMIM:609136
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte prolifera...	ORPHA:83471
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Vomiting, Cerebellar atrophy, Elevated circulating alkaline phosphatase concentrat...	OMIM:620451
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Peripheral demyelination, Onion bulb formation, Hand tremor	OMIM:618279
Adult Krabbe Disease	Abnormal corpus callosum morphology, Peripheral demyelination, Abnormal circulating enzyme concen...	ORPHA:206448
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Progressive Osseous Heteroplasia	Sarcoma, Osteoarthritis	ORPHA:2762
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Axonal degeneration/regeneration, Tremor, Decreased number of peripheral myelinate...	OMIM:609260
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation, Hypoplasia of the corpus callosum	OMIM:615035
Pontocerebellar Hypoplasia, Type 4	Microcephaly, Dysphagia, Gliosis	OMIM:225753
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Dysphagia, Axonal degeneration/regeneration	OMIM:607736
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Microcephaly, Bilateral basal ganglia lesions, Gliosis, Bloody diarrhea	OMIM:615119
Lyme Disease	Meningitis, Infectious encephalitis, Arthritis, Uveitis	ORPHA:91546
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Downslanted palpebral fissures, Microcytic anemia, Hepatosplenomegaly, Hypot...	OMIM:619750
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Pruritus, Predominantly dermal neutrophi...	ORPHA:293173
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Neutrophilia, BCGitis, Recurrent respiratory infections, Cerebral cal...	OMIM:226990
Cockayne Syndrome Type 1	Cataract, Optic atrophy, Diarrhea, Male hypogonadism, Elevated circulating hepatic transaminase c...	ORPHA:90321
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma	ORPHA:280785
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer...	OMIM:616050
Nocardiosis	Pneumonia, Unusual CNS infection, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Liver ab...	ORPHA:31204
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, Microcephaly, Myelin-dependent gliosis, Cleft ...	OMIM:201550
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ...	ORPHA:443811
Alexander Disease	Precocious puberty, Cerebral calcification, Tremor, Infectious encephalitis, Agenesis of corpus c...	ORPHA:58
Ollier Disease	Precocious puberty, Neoplasm, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral an...	ORPHA:296
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Cataract, Atrophy/Degeneration involving the spinal cord, Intestinal pseudo-obstruction, Gastropa...	ORPHA:70595
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Punctate keratitis, Squamous cell carcinoma, ...	OMIM:602540
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Onion bulb formation, Acute demyelinating polyneuropathy, Impaired oropharyngeal swallow response	ORPHA:98916
Ceroid Lipofuscinosis, Neuronal, 7	Neurodegeneration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:610951
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per...	OMIM:118220
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Recurrent viral infections, Lymphopenia, Recurrent lower r...	OMIM:613179
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Dystonia, Peripheral demyelination	OMIM:616684
Dyskeratosis Congenita, X-Linked	Pancytopenia, Cryptorchidism, Sparse eyelashes, Hodgkin lymphoma, Acute myeloid leukemia, Anal mu...	OMIM:305000
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Microcephaly, Delayed CNS myelination, Progressive microcephaly, Gliosis, Neuronal...	OMIM:614498
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Actinic keratosis, Erythroderma, Late onset atopic derm...	ORPHA:330064
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti...	OMIM:613502
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis, Astrocytosis, Megalencephaly	OMIM:611087
Metachromatic Leukodystrophy	Optic atrophy, Peripheral demyelination, Reduced leukocyte arylsulfatase A activity, Cholecystiti...	OMIM:250100
Ethylene Glycol Poisoning	Vomiting, Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Fac...	ORPHA:31826
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Hartnup Disease	Neutral hyperaminoaciduria, Abnormal urinary color, Skin rash, Infectious encephalitis, Glossitis	ORPHA:2116
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Recurrent viral infections, Increased circulating IgE...	OMIM:620532
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Cerebral cortical atrophy, Bronchiolitis, Periodonti...	OMIM:266265
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Ot...	ORPHA:229717
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Thrombocytopenia, Anemia, Sarcoma, Hypercalcemi...	ORPHA:69077
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Recurrent bronchiolitis, B-cell...	OMIM:619164
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Hypoplasia of the corpus callosum, Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy	OMIM:604218
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Peripheral demyelination, Abnormal renal corticome...	OMIM:616733
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Immunodeficiency 26 With Or Without Neurologic Abnormalities	CNS hypomyelination, Abnormal natural killer cell morphology, Pachygyria, Recurrent aphthous stom...	OMIM:615966
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv...	OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 2	Cerebellar vermis atrophy, Gliosis, Tremor	OMIM:213200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce...	OMIM:617241
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Micro...	ORPHA:169079
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Molluscum contagiosum, Lymphopenia, Hodgkin lymphoma, Neutropenia, Re...	OMIM:614868
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul...	OMIM:608340
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Elevated circulating hepatic t...	ORPHA:36426
Lissencephaly, X-Linked, 2	Diarrhea, Pachygyria, Decreased testicular size, Agenesis of corpus callosum, Ambiguous genitalia...	OMIM:300215
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:537
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Dysphagia, Gastroeso...	ORPHA:298
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated ...	OMIM:607250
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Cryptorchidism...	OMIM:620371
Leukoencephalopathy, Progressive, With Ovarian Failure	Leukoencephalopathy, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegenera...	OMIM:615889
Autoimmune Hypoparathyroidism	Cataract, Calcium nephrolithiasis, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Laryngea...	ORPHA:36913
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration	OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Cerebral atrophy, Limb dystonia, Cryptorchidism, Opisthotonus, Micr...	OMIM:619847
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Diffuse cerebral ...	OMIM:614946
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Opist...	OMIM:277470
Leigh Syndrome, Nuclear	Optic atrophy, Ptosis, CNS demyelination, Gliosis, Focal substantia nigra T2 hyperintensity, Dyst...	OMIM:256000
Familial Cold Urticaria	Conjunctivitis, Pruritus, Hyperhidrosis, Arthritis	ORPHA:47045
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, Gliosis, Optic disc pallor, ...	OMIM:612936
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Behçet Disease	Cataract, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Renal insufficiency, Spleno...	ORPHA:117
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Hypoplasia of the corpus callosum, Microcephaly, Erythroderma, Micropen...	OMIM:618840
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat...	OMIM:617780
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased...	OMIM:607706
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D...	ORPHA:26791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation	OMIM:601098
Immunoglobulin A Vasculitis	Optic atrophy, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleritis, Skin rash...	ORPHA:761
Leukodystrophy, Hypomyelinating, 24	Cataract, Leukodystrophy, Cerebral atrophy, Peripheral axonal neuropathy, Microcephaly, Hypothyro...	OMIM:619851
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti...	ORPHA:500166
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Decreased circulating total IgG, Recurrent viral infections, Decreased lymphocyte proli...	ORPHA:221139
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Leukodystrophy, Neurodegeneration, Ankyloglossia, Peripheral demyelination, Hyperbilirubinemia, H...	OMIM:619475
Infantile Myofibromatosis	Neoplasm of the skin, Benign neoplasm of the central nervous system, Intestinal obstruction, Abno...	ORPHA:2591
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Corneal dystrophy, Sparse eyelashes, Ectropion, Conjunct...	OMIM:308800
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Verrucae, Recurrent viral in...	ORPHA:275
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Corneal scarring, Squamous cell carcinoma, Constipation, Abnormal esophagus morphology,...	OMIM:226600
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal...	OMIM:604213
Neutrophilia, Hereditary	Myelodysplasia, Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Antisynthetase Syndrome	Xerostomia, Neoplasm, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Ke...	ORPHA:81
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltrat...	OMIM:615508
Supranuclear Palsy, Progressive, 1	Neuronal loss in basal ganglia, Neurofibrillary tangles, Cerebral atrophy, Astrocytosis, Limb dys...	OMIM:601104
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal tract ...	OMIM:256600
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Jaundice, E...	ORPHA:99827
Pick Disease Of Brain	Gliosis, Neuronal loss in central nervous system	OMIM:172700
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Even-Plus Syndrome	Atopic dermatitis, Renal hypoplasia, Highly arched eyebrow, Cataract, Recurrent urinary tract inf...	OMIM:616854
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren...	OMIM:208900
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis	OMIM:612843
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Peripheral demyelination	ORPHA:2932
Cockayne Syndrome Type 2	Male hypogonadism, Uveitis, Cryptorchidism, Subcortical white matter calcifications, Developmenta...	ORPHA:90322
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Pustule, Acute otitis media, Rectova...	ORPHA:35078
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Lymphoma, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Inc...	OMIM:614470
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Acrodermatitis Enteropathica	Cerebral cortical atrophy, Abnormal eyebrow morphology, Furrowed tongue, Chronic diarrhea, Pustul...	ORPHA:37
Crouzon Syndrome	Optic atrophy, Ptosis, Conjunctivitis, Narrow palate, Iris coloboma	ORPHA:207
Poliomyelitis	Myelitis, Vomiting, Infectious encephalitis, Paralytic ileus, Meningitis, Nausea, Dysphagia	ORPHA:2912
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Cerebral cortical atrophy, Peripheral hypomyelination, Hypogonadotropic hy...	ORPHA:48431
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Gastroi...	ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Microcephaly, Delay...	OMIM:616811
Mevalonic Aciduria	Diarrhea, Morbilliform rash, Hepatosplenomegaly, Elevated circulating C-reactive protein concentr...	OMIM:610377
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Achlorhydria, Cornea...	OMIM:252650
Null Syndrome	Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy	ORPHA:280234
Trichinellosis	Increased circulating IgE level, Central retinal artery occlusion, Skin rash, Conjunctival hypere...	ORPHA:863
Autosomal Recessive Spastic Paraplegia Type 35	Enuresis nocturna, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Generalized dyst...	ORPHA:171629
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Increased circulating antibody level, Retinal vasculitis, H...	ORPHA:48435
Yellow Nail Syndrome	Nephropathy, Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Sarcoma, Sinusit...	ORPHA:662
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Tremor, Microcephaly, Abnormal ce...	ORPHA:397946
Diaminopentanuria	Neurodegeneration, Hyperlysinuria, Cystinuria	OMIM:222350
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Onion bulb formation	OMIM:608236
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Abnormal periventricular white ma...	OMIM:272200
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Keratitis, Cutaneous melanoma, Microcephaly, Squamous cell carcinoma, Entro...	OMIM:278750
Kawasaki Disease	Diarrhea, Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Jaundice,...	ORPHA:2331
Cockayne Syndrome	Lentiglobus, Basal ganglia calcification, Cerebral calcification, Cryptorchidism, Action tremor, ...	ORPHA:191
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Periodontitis, Aplastic anemia, Recurrent viral infections, Lymphopenia, Acute myeloid ...	ORPHA:486
Immunodeficiency 23	Allergic rhinitis, Increased circulating IgE level, Lymphopenia, Molluscum contagiosum, Abscess, ...	OMIM:615816
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Secondary microcephaly, Action tremor, Chronic constipation, Lingual dystonia, Optic disc pallor,...	ORPHA:404454
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Monosomy 22	Meningioma, Gonadal neoplasm, Schwannoma, Hepatosplenomegaly, High palate, Epicanthus, Aplasia of...	ORPHA:96123
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Erythroderma, Lethal Congenital	Hypoalbuminemia, Congenital exfoliative erythroderma	OMIM:227090
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:911
Charcot-Marie-Tooth Disease, Type 4B3	Onion bulb formation, Microcephaly, Urinary incontinence, Brain atrophy, Myelin outfoldings	OMIM:615284
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Gastroesophageal reflux, Vesicoureteral reflux, Hypoplasia of the corpus call...	ORPHA:261652
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic...	OMIM:617087
Charcot-Marie-Tooth Disease, Type 4B2	Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip...	OMIM:604563
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Abnormal cir...	ORPHA:391428
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Anemia, Eosinophilia, Papilledema, Arthritis, Elevat...	OMIM:607115
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Tremor, Dysplastic corpus ...	OMIM:619737
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Ptosis, Periph...	OMIM:605285
Lamellar Ichthyosis	Sepsis, Renal insufficiency, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Ectropion, Recurren...	ORPHA:313
Intellectual Developmental Disorder, X-Linked 12	Microphallus, Cryptorchidism, Tremor, Microcephaly, Abnormal cerebral white matter morphology, Gl...	OMIM:300957
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Organic aciduria, Hyperammonemia, Keratoconjunctivitis, T...	ORPHA:79242
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Vomiting, Cerebellar atrophy, Elevated circulating hepatic transaminas...	OMIM:203700
Congenital Disorder Of Glycosylation, Type If	Optic atrophy, Cerebral atrophy, Renal cortical cysts, Microcephaly, Erythroderma	OMIM:609180
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Squamous cell carcinoma of the skin, Melanoma, Microcephaly, Entropion, Ectropion, Con...	OMIM:278700
Usmani-Riazuddin Syndrome, Autosomal Recessive	Conjunctival hyperemia, Epicanthus, High palate, Agenesis of corpus callosum	OMIM:619548
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination	OMIM:605253
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Machado-Joseph Disease	Cerebellar atrophy, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Pt...	OMIM:109150
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib...	ORPHA:158048
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination	OMIM:162500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	ORPHA:293987
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re...	ORPHA:319552
Whim Syndrome	Lymphadenitis, Lymphopenia, Neutropenia, Meningitis, Cutaneous melanoma, Otitis media, Papilloma,...	ORPHA:51636
Alg12-Cdg	Abnormal peripheral nervous system morphology, Abnormal circulating IgG level, Cryptorchidism, Hy...	ORPHA:79324
Charcot-Marie-Tooth Disease, Axonal, Type 2E	High palate, Ptosis, Onion bulb formation, Facial palsy	OMIM:607684
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Facial diplegia, Axonal degeneration/regeneration, Tremor, Ag...	OMIM:218000
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Tremor, Microce...	ORPHA:457240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cryptorchidism, Agenesis of corpus callosum, Scleritis, Abnormal nasolacrimal system morphology, ...	ORPHA:2273
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Axonal regeneration, Onion bulb formation	OMIM:608323
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
D-Bifunctional Protein Deficiency	Cerebral hypoplasia, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy,...	OMIM:261515
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Melanoma, Microcephaly, Keratoconjunctivitis sic...	OMIM:278730
Neuropathy, Hereditary Sensory, Type Ie	Osteomyelitis, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Cowden Syndrome 1	Lymphopenia, Ovarian cyst, High palate, Carcinoma, Cataract, Thyroid adenoma, Varicocele, Hypothy...	OMIM:158350
Congenital Lethal Erythroderma	Hypoalbuminemia, Congenital exfoliative erythroderma	ORPHA:1954
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Cerebral atrophy, Increased circulating IgE level, Leuko...	OMIM:618213
Werner Syndrome	Neoplasm of the oral cavity, Decreased fertility, Melanoma, Renal neoplasm, Sarcoma, Cataract, Cu...	ORPHA:902
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Skin rash, Esophageal neoplasm, Neoplasm of t...	ORPHA:44890
Chikungunya	Red eye, Neuritis, Diarrhea, Vomiting, Peripheral nerve compression, Skin rash, Infectious enceph...	ORPHA:324625
Nasolacrimal Duct Cyst	Red eye, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Narrow palpebra...	ORPHA:141083
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb...	OMIM:605588
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Huntington Disease-Like 1	Cerebral cortical atrophy, Abnormal basal ganglia morphology, Cerebellar atrophy, Gliosis	ORPHA:157941
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Oral-pharyngeal dysphagia, Peripheral hypomyelination	OMIM:616287
Tick-Borne Encephalitis	Unusual CNS infection, Myelitis, Vomiting, Elevated circulating hepatic transaminase concentratio...	ORPHA:297
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Neoplasm, Microcephaly, Retinal telangiectasia	ORPHA:438134
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Vesicoureteral r...	OMIM:300868
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria,...	ORPHA:95455
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration, Hypoplasia of the corpus callosum, Motor axonal neuropathy, Oromandibular dyst...	OMIM:615643
Hyper-Igd Syndrome	Neutrophilia, Recurrent infections, Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hep...	OMIM:260920
Trigeminal Neuralgia	Cranial nerve compression, Peripheral demyelination, Neoplasm, CNS demyelination, Allodynia	ORPHA:221091
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers	OMIM:618184
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism, Decreased number of perip...	OMIM:607080
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Spars...	ORPHA:125
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ...	ORPHA:49
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Recu...	OMIM:301000
Congenital Ichthyosiform Erythroderma	Keratitis, Hypohidrosis, Erythroderma, Ectropion, Pruritus, Corneal erosion	ORPHA:79394
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening...	ORPHA:464370
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Pruritus, Dysp...	ORPHA:411777
Immunodeficiency 66	Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections	OMIM:618847
Myofibromatosis, Infantile, 1	Myofibromatosis, Fibroma	OMIM:228550
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Erythroderma	ORPHA:312
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan...	OMIM:615952
Mucopolysaccharidosis-Plus Syndrome	Cerebral calcification, Epicanthus, Delayed CNS myelination, Neutropenia, Nephrotic syndrome, Ren...	OMIM:617303
Chediak-Higashi Syndrome	Iris hypopigmentation, Periodontitis, Hemophagocytosis, Ocular albinism, Neurodegeneration, Leuko...	OMIM:214500
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Reduced natural killer c...	OMIM:619752
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Increased fecal...	ORPHA:79277
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Eczematoid dermatitis, Downslanted palpebral fissures, Superficial derm...	ORPHA:83617
Primary Non-Essential Cutis Verticis Gyrata	Microcephaly, Periventricular leukomalacia, Gliosis, Developmental cataract	ORPHA:357225
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Mildly elevated creatine kinase	OMIM:615376
Pseudohypoparathyroidism Type 1B	Cataract, Hyperphosphatemia, Laryngeal dystonia, Decreased response to growth hormone stimulation...	ORPHA:94089
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran...	OMIM:607676
Mast Cell Sarcoma	Mastocytosis, Sarcoma, Splenomegaly	ORPHA:66661
Crouzon Syndrome	Optic atrophy, Keratitis, Shallow orbits, Conjunctivitis, High palate, Dysgerminoma	OMIM:123500
Spinocerebellar Ataxia 25	Vomiting, Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Abnormal ce...	OMIM:608703
Intellectual Developmental Disorder, Fra12A Type	Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Hepatosplenomegaly, Facial capillary hemangioma, Delayed CNS myel...	OMIM:274000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Hepatic failure, Cerebellar atrophy, Aspiration pneumonia, Postural tr...	OMIM:301072
Pneumocystosis	Pneumocystis jirovecii pneumonia, Increased circulating lactate dehydrogenase concentration, Neop...	ORPHA:723
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Periodontitis, Esophagitis, Recurrent skin infections, Neopl...	ORPHA:2908
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Abno...	ORPHA:1830
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Action tremor, 3-Methylglutaconic aciduria, Delayed CNS myelination, C...	OMIM:615273
Tenorio Syndrome	Cerebral cortical atrophy, Recurrent pneumonia, Gastroesophageal reflux, Recurrent aphthous stoma...	OMIM:616260
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema, Gliosis	OMIM:608033
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy...	OMIM:618987
Peho Syndrome	Optic atrophy, Cerebellar atrophy, Polymicrogyria, Peripheral dysmyelination, Hypoplasia of the c...	OMIM:260565
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Xeroderma Pigmentosum, Complementation Group E	Basal cell carcinoma, Keratitis, Squamous cell carcinoma of the skin, Melanoma, Entropion, Ectrop...	OMIM:278740
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I...	OMIM:620565
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Fusariosis	Abnormality of the spleen, Lymphopenia, Hematological neoplasm, Neutropenia, Abnormality of the k...	ORPHA:228119
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus ...	ORPHA:506358
Viss Syndrome	Increased circulating IgE level, Exostosis of the external auditory canal, Cleft soft palate, Chr...	OMIM:619472
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Severe B lymphocytopenia, Adrenocorticotropin deficient adrenal insufficienc...	ORPHA:293978
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microcornea, Cerebral cortical atrophy, Decreased fertility, Sparse eyelashes, Epi...	OMIM:234050
Chromomycosis	Keratitis, Recurrent bacterial infections, Eyelid retraction, Squamous cell carcinoma, Keratoconj...	ORPHA:182
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Periodontitis, Nephrolithiasis, Decrease...	OMIM:217090
Glycosylphosphatidylinositol Biosynthesis Defect 17	Abnormality of alkaline phosphatase level, Osteomyelitis, Dysplastic corpus callosum, Microcephal...	OMIM:618010
Xeroderma Pigmentosum, Complementation Group C	Basal cell carcinoma, Keratitis, Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic...	OMIM:278720
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Tremor, Gliosis, Neuronal loss in central nervous syste...	ORPHA:683
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Abetalipoproteinemia	Peripheral demyelination, Acanthocytosis, Abetalipoproteinemia, CNS demyelination, Fat malabsorption	OMIM:200100
Sepsis In Premature Infants	Diarrhea, Neutropenia, Elevated circulating C-reactive protein concentration, Jaundice, Meningiti...	ORPHA:90051
Angiostrongyliasis	Unusual CNS infection, Vomiting, Pruritus, Hypereosinophilia, Increased circulating specific IgE ...	ORPHA:74
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, CNS hypomyelination, Secondary microcephaly, Osteomyelitis, Dysplastic corpus c...	OMIM:619423
Vernal Keratoconjunctivitis	Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza...	ORPHA:70476
Pachydermoperiostosis	Neoplasm of the skin, Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyel...	ORPHA:2796
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i...	ORPHA:2688
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Vomiting, Elevated circulating glutaric acid concen...	OMIM:231680
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Highly arched eyebrow, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matt...	OMIM:616900
Dworschak-Punetha Neurodevelopmental Syndrome	Sparse lateral eyebrow, Unilateral renal hypoplasia, Vesicoureteral reflux, Elevated circulating ...	OMIM:619955
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Nephrolithiasis, ...	OMIM:617321
Desmoplastic Small Round Cell Tumor	Ileus, Testicular neoplasm, Anemia, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm...	ORPHA:83469
Lacrimal Duct Defect	Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis	OMIM:149700
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Recurrent aphthous stomatitis, Herpes simplex encephalitis	OMIM:614850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Harlequin Ichthyosis	Ectropion, Cataract, Recurrent respiratory infections, Erythroderma	ORPHA:457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Elevated circulating ribitol concentration, Renal c...	ORPHA:488618
Immunodeficiency 13	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Lympho...	OMIM:615518
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Meningitis, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine concen...	ORPHA:544482
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Delayed peripheral myelination, Cerebral whi...	ORPHA:464282
Pseudohypoparathyroidism Type 1A	Cataract, Band keratopathy, Hyperphosphatemia, Laryngeal dystonia, Decreased response to growth h...	ORPHA:79443
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Heparan sul...	OMIM:309900
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Thymoma, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancr...	OMIM:269200
Clouston Syndrome	Cataract, Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Blepharitis	OMIM:129500
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Lichen Planus Pemphigoides	Conjunctivitis, Pruritus, Blepharitis	ORPHA:254478
Trichorhinophalangeal Syndrome, Type Ii	Rib exostoses, Hydrometrocolpos, Recurrent otitis media, Osteoma, Gastroesophageal reflux, Chroni...	OMIM:150230
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Furrowed tongue, Corneal scarring, Spars...	OMIM:148210
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Hypoplasia of the uterus, Abnormal vagina morphology, Gonadal dysgenesis, Abno...	ORPHA:168563
Epidermodysplasia Verruciformis	Verrucae, Pustule, Squamous cell carcinoma, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Lateral ventricle...	OMIM:231670
Pemphigus Foliaceus	Neoplasm of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Hematol...	ORPHA:79481
Cinca Syndrome	Abnormality of neutrophils, Pseudopapilledema, Leukocytosis, Splenomegaly, Inflammatory abnormali...	ORPHA:1451
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin	ORPHA:90159
Familial Mediterranean Fever	Neutrophilia, Diarrhea, Vomiting, Erysipelas, Renal amyloidosis, Stage 5 chronic kidney disease, ...	OMIM:249100
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Erythroderma	OMIM:608649
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,...	OMIM:619774
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Cataract, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic t...	OMIM:124000
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the s...	ORPHA:398063
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy, Abnormal pupil morphology, Elevated circ...	ORPHA:101082
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Onion bulb formation, Peripheral hypomyelination	OMIM:611228
Aicardi-Goutières Syndrome	Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Leukodystrophy, Hepatosplenom...	ORPHA:51
22Q11.2 Deletion Syndrome	Cryptorchidism, Epicanthus, Posterior embryotoxon, Hypoparathyroidism, Anal atresia, Hypospadias,...	ORPHA:567
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Pontocerebellar Hypoplasia Type 2	Abnormal cortical gyration, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Paroxysmal dyston...	ORPHA:2524
East Syndrome	Cerebellar atrophy, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagn...	ORPHA:199343
Scedosporiosis	Pneumonia, Unusual CNS infection, Abnormal jejunum morphology, Unusual skin infection, Sepsis, In...	ORPHA:449280
Charcot-Marie-Tooth Disease, Type 4B1	Irregular myelin loops, Facial palsy, Myelin outfoldings	OMIM:601382
Vici Syndrome	Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Age...	OMIM:242840
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin...	OMIM:614379
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Esophagea...	OMIM:615468
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Sparse lateral eyebrow, Focal polymicrogyria, Downslanted palpebral fissures,...	OMIM:619103
Parkinson Disease 1, Autosomal Dominant	Global brain atrophy, Resting tremor, Lewy bodies, Gliosis, Dystonia, Dysphagia, Urinary urgency	OMIM:168601
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
African Trypanosomiasis	Diarrhea, Myelopathy, Hepatosplenomegaly, Urinary incontinence, Jaundice, Choreoathetosis, Abnorm...	ORPHA:3385
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Acute kidney injury, Increase...	ORPHA:542323
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal insufficiency, Splenomegaly, Hem...	ORPHA:91138
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Elevated...	OMIM:615688
Arboleda-Tham Syndrome	Recurrent otitis media, Epicanthus, Dysphagia, Chronic otitis media, Gastroesophageal reflux, Spa...	OMIM:616268
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Microcytic anemia, Protruding tongue, Neutrophilia, Cerebral atrophy, Lon...	ORPHA:99843
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Foot osteomyelitis, Hand tremor, Osteomyelitis, Chronic axonal neuropathy, Decreased nu...	OMIM:162400
Ichthyosis With Confetti	Ectropion, Pruritus, Erythroderma	OMIM:609165
Lissencephaly Due To Tuba1A Mutation	Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c...	ORPHA:171680
Bathing Suit Ichthyosis	Ectropion, Hypohidrosis, Erythroderma	ORPHA:100976
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis	OMIM:608710
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Vomiting, Organic aciduria, Keton...	OMIM:210210
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Aspiration pneumonia, Vulvar neoplasm, Abnormal gastrointest...	ORPHA:1018
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentratio...	ORPHA:90362
Papillorenal Syndrome	Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc colo...	OMIM:120330
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Hydronep...	ORPHA:35173
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Cerebral cortical atrophy, Lateral ventricle dilatation, Decreased glomer...	ORPHA:488627
Adrenoleukodystrophy	Urinary bladder sphincter dysfunction, Hypogonadism, Neurodegeneration, Primary adrenal insuffici...	OMIM:300100
Angioedema, Hereditary, 1	Vomiting, Diarrhea, Axonal degeneration, Peripheral axonal neuropathy, Intestinal edema	OMIM:106100
Onychotrichodysplasia And Neutropenia	Curly eyelashes, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infecti...	OMIM:258360
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma...	OMIM:246400
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Cor...	OMIM:158310
Neurofibromatosis Type 1	Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Ca...	ORPHA:636
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Hypoplasia of ...	ORPHA:169090
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:3226
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Cavitation of the basal ganglia, Laryngeal dystonia, Neurodegeneration, Decreased ...	OMIM:606159
Pseudohypoparathyroidism Type 1C	Cataract, Hyperphosphatemia, Laryngeal dystonia, Decreased response to growth hormone stimulation...	ORPHA:79444
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Cataract, Severe B lymphocytopenia, Renal hypo...	OMIM:620005
Ichthyosis, Congenital, Autosomal Recessive 1	Ectropion, Erythroderma	OMIM:242300
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Abnormality of the female genitalia, Eryth...	ORPHA:228123
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Ptosis, Dystonia, Dysphagia, Onion bulb formation	OMIM:614487
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, Squamous c...	ORPHA:542592
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Immunodeficiency 68	Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal ...	OMIM:612260
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation	OMIM:601455
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Neurodegeneratio...	OMIM:615157
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Abscess, Autoimmune hemolytic an...	OMIM:619374
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyebrow, Downslanted palpebral fissures, Elevated 8(9)-cholestenol, Sparse eyela...	OMIM:302960
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Gliosis, Confluent hyperintensity of cerebral white matter on MRI, Pach...	ORPHA:280210
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Hypospadias, Vomiting, Ketonuria, Anteriorly placed anus, Partial agenesis...	OMIM:220111
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Anemia, Thrombocytosis, Inflammatory abnormalit...	ORPHA:1467
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I...	ORPHA:79078
Kanzaki Disease	Aminoaciduria, Cerebral atrophy, Tortuosity of conjunctival vessels, Increased urinary O-linked s...	OMIM:609242
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration, Seborrheic dermatitis	OMIM:121270
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Hemolytic anemia, Erythroid hyperplasia, ...	ORPHA:95159
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Secretory diarrhea, Seborrheic dermatitis, Hyperhidrosis, Acne	OMIM:614441
Relapsing Polychondritis	Cataract, Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis, C...	ORPHA:728
Intrahepatic Cholestasis Of Pregnancy	Pruritus on foot, Abnormal circulating interleukin concentration, Elevated circulating hepatic tr...	ORPHA:69665
Erythermalgia, Primary	Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Hyperhidrosis, Pruritus	OMIM:133020
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurre...	OMIM:609536
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Eczematoid dermatitis, Abnormality of the urethra, Oral leukoplakia, Ankyloglossia, P...	ORPHA:2907
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Cerebral hyp...	ORPHA:508542
Ichthyosis With Erythrokeratoderma	Pruritus, Erythroderma	OMIM:620507
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Dilatation of the renal pelvis, Cleft soft palate, Cryptorchidism, Hypoplasia of the corpus callo...	ORPHA:268261
Candidiasis, Familial, 8	Seborrheic dermatitis, Onychomycosis, Macroglossia, Cheilitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Gorham-Stout Disease	Osteomyelitis, Elevated alkaline phosphatase of bone origin, Spinal cord compression, Torticollis...	ORPHA:73
Recon Progeroid Syndrome	Red eye, Microcephaly, Keratoconjunctivitis sicca, Thrombocytopenia, Anemia, Recurrent infections...	OMIM:620370
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hepatic failure, Focal T2 hyperintense basal ganglia lesion, Abnormality of Krebs ...	ORPHA:255210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ankyloblepharon, Vaginal dryness, Lacrimal duct atresia, Sparse eyelashes, Absent eyelashes, Anhi...	OMIM:106260
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Metrorrhagia, Abnormal e...	ORPHA:314478
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Good Syndrome	Thymoma, Diarrhea, Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukoc...	ORPHA:169105
Infant Botulism	Mydriasis, Xerostomia, Hyponatremia, Ptosis, Keratoconjunctivitis sicca, Constipation, Dysphagia,...	ORPHA:178478
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Resting tremor, Lewy bodies, Chronic constipation, Gliosis, Spastic/hy...	ORPHA:411602
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Corneal scarring, Splenomegaly, Red urine, Loss ...	OMIM:263700
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ...	ORPHA:733
Desmoid Tumor	Neoplasm of the skin, Gastrointestinal hemorrhage, Sepsis, Intestinal polyposis, Intestinal obstr...	ORPHA:873
Acute Lung Injury	Pneumonia, Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necros...	ORPHA:178320
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Helsmoortel-Van Der Aa Syndrome	Lateral ventricle dilatation, Ankyloglossia, Cryptorchidism, Epicanthus, Narrow palpebral fissure...	OMIM:615873
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Optic atrophy, Elevated circulating hepatic tra...	OMIM:616878
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile ...	ORPHA:811
Terminal Osseous Dysplasia	Telecanthus, Upslanted palpebral fissure, Epicanthus, Ptosis, Fibroma, Iris coloboma, Cleft palate	OMIM:300244
Sarcoidosis	Abnormal reproductive system morphology, Erythema nodosum, Tubulointerstitial nephritis, Dacryocy...	ORPHA:797
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Osteomyelitis,...	ORPHA:29207
Ichthyosis, Congenital, Autosomal Recessive 9	Ectropion, Hypohidrosis, Erythroderma	OMIM:615023
Agel Amyloidosis	Cataract, Tongue atrophy, Xerostomia, Bilateral ptosis, Blepharochalasis, Stage 5 chronic kidney ...	ORPHA:85448
Fumarase Deficiency	Aminoaciduria, Optic atrophy, Elevated urine fumaric acid level, Conjunctival icterus, Cutaneous ...	OMIM:606812
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Elevated circulating hepatic transaminase concent...	ORPHA:14
Aicardi Syndrome	Lateral ventricle dilatation, Metastatic angiosarcoma, Hepatoblastoma, Delayed CNS myelination, C...	OMIM:304050
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Acanthocytosis	OMIM:604777
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Gl...	OMIM:607485
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Cerebellar atrophy, Generalized dystonia, Eye of the tiger anomaly of globus palli...	OMIM:614298
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Leukocytosis, Skin rash, Chronic diarrhea, Increased proportion of CD4-positive T cells...	OMIM:617099
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Dermatofibrosarcoma Protuberans	Neoplasm of the skin, Fibrosarcoma	ORPHA:31112
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Prominent eyelashes, Upslanted palpebral fissure, Chronic constipation, Hypo...	OMIM:619179
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Atopic Keratoconjunctivitis	Keratitis, Corneal scarring, Allergic conjunctivitis, Corneal neovascularization, Loss of eyelash...	ORPHA:163934
Familial Mediterranean Fever	Nephropathy, Diarrhea, Acute hepatic failure, Intestinal obstruction, Meningitis, Nephrotic syndr...	ORPHA:342
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Chronic decreased circula...	OMIM:615607
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Oral-pharyngeal dysphagia, Facial diplegia, Hypoplasia of the corpus callosum, Dec...	ORPHA:254930
Gm2 Gangliosidosis, Ab Variant	Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Cherry red spot of the macula, N...	ORPHA:309246
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El...	ORPHA:85435
Supranuclear Palsy, Progressive, 2	Neuronal loss in basal ganglia, Neurofibrillary tangles, Postural tremor, Retrocollis, Axial dyst...	OMIM:609454
Large Congenital Melanocytic Nevus	Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Pruritus, Sarcoma, Rhabdomyosarcoma	ORPHA:626
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal astrocyte morphology, Hematological neopla...	ORPHA:217260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Diarrhea, Vomiting, Acute hepatic fail...	OMIM:256810
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607831
Lacrimoauriculodentodigital Syndrome 2	Conjunctivitis, Lacrimal duct aplasia, Absent lacrimal punctum, Lacrimal duct atresia	OMIM:620192
Choreoacanthocytosis	Resting tremor, Lateral ventricle dilatation, Acanthocytosis, Limb dystonia, Protruding tongue, P...	ORPHA:2388
Ichthyosis, Congenital, Autosomal Recessive 6	Ectropion, Hypohidrosis, Erythroderma	OMIM:612281
Milroy Disease	Neoplasm of the skin, Erysipelas, Epicanthus, Hydrocele testis, Angiosarcoma	ORPHA:79452
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Neutrophili...	ORPHA:98849
Retinoblastoma	Red eye, Pineoblastoma, Glioma, Osteosarcoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Heterochro...	ORPHA:790
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sparse eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Bilateral ptosis, B...	ORPHA:544488
Familial Acute Necrotizing Encephalopathy	Cerebral edema, Vomiting, Gliosis, Abnormal putamen morphology	ORPHA:88619
Rat-Bite Fever	Diarrhea, Lymphadenitis, Vomiting, Sepsis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myoc...	ORPHA:31205
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Dysplastic corpus callosum, Hypospadias, Cryptorchidism	OMIM:620135
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Eczematoid dermatitis, Downslanted palpebral fissures, Thick eyebrow, Astigm...	ORPHA:369950
Chronic Granulomatous Disease	Pyloric stenosis, Sepsis, Eczematoid dermatitis, Recurrent respiratory infections, Otitis media, ...	ORPHA:379
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ...	ORPHA:70578
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropat...	ORPHA:320406
Relapsing Fever	Acute kidney injury, Diarrhea, Vomiting, Abnormality of the urinary system, Increased circulating...	ORPHA:91547
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Cerebral cortical atrophy, Decreased response to growth hormone stimulation test, Thick...	OMIM:616007
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Hypoplasia of the corpus callosum, Absent eyelashes...	OMIM:308205
Cockayne Syndrome A	Irregular menstruation, Cataract, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Peripheral...	OMIM:216400
Digeorge Syndrome	Recurrent otitis media, Ovarian cyst, Posterior embryotoxon, Blepharophimosis, High palate, Renal...	OMIM:188400
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv...	ORPHA:250972
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Cerebellar atrophy, Hypomagnesemia, Hyperaldosteronism, Renal sodium was...	OMIM:612780
Cockayne Syndrome B	Optic atrophy, Microcornea, Cerebral atrophy, Hypoplasia of the iris, Peripheral dysmyelination, ...	OMIM:133540
Giant Axonal Neuropathy 1, Autosomal Recessive	Vomiting, Sensory axonal neuropathy, Lateral ventricle dilatation, Motor axonal neuropathy, Decre...	OMIM:256850
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Elevated circulating aspartate aminotransferase concentration, Hypoplasia of...	OMIM:614924
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Skin rash, Keratoconjunctivi...	ORPHA:79128
Bohring-Opitz Syndrome	Narrow palate, Gastroesophageal reflux, Intestinal malrotation, Vesicoureteral reflux, Upslanted ...	OMIM:605039
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, CNS hypomyelination, Leukodystrophy, Intention tremor, Cerebral white matter ...	OMIM:610532
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Tuberous Sclerosis 2	Chordoma, Cerebral calcification, Cardiac rhabdomyoma, Renal angiomyolipoma, Subungual fibromas, ...	OMIM:613254
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an...	OMIM:619313
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Periorbital dermoid cyst, Lacrimal duct stenosis, Renal cyst	OMIM:615560
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Neurodegeneration, Upslanted palpebral fissure, Phimosis, Long palpebral ...	OMIM:620455
Ifap Syndrome 2	Cataract, Posterior blepharitis, Keratitis, Angular cheilitis, Keratoconjunctivitis sicca	OMIM:619016
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Cataract, Vomiting, Recurrent viral infections, Impaired T cell function, Alle...	OMIM:176690
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cerebral atrophy, Sideroblastic anemia, Splenomegaly, B lymphocy...	OMIM:616084
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ...	ORPHA:94059
Hurler Syndrome	Bilateral ptosis, Recurrent otitis media, Heparan sulfate excretion in urine, Hepatosplenomegaly,...	OMIM:607014
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
Hypohidrotic Ectodermal Dysplasia	Xerostomia, Eczematoid dermatitis, Sinusitis, Keratoconjunctivitis sicca, Hypohidrosis, Aplasia/H...	ORPHA:238468
Limb-Mammary Syndrome	Bifid uvula, Sparse eyebrow, Lacrimal duct atresia, Psoriasiform dermatitis, Absent lacrimal punc...	ORPHA:69085
Psoriasis 14, Pustular	Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu...	OMIM:614204
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Hypohidrosis, Sclerocornea, Recurrent respirat...	ORPHA:1806
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Recurrent otitis media, Heparan sulfate excretion i...	OMIM:253220
Adult Syndrome	Conjunctivitis, Eczematoid dermatitis, Nasolacrimal duct obstruction	OMIM:103285
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233710
Charcot-Marie-Tooth Disease Type 4A	Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin...	ORPHA:99948
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Micr...	OMIM:614833
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Eczematoid dermatitis, Ptosis, Seborrheic dermatitis, Hyperhidrosis, Arthritis, High palate	OMIM:259100
Spastic Paraplegia 79B, Autosomal Recessive	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Postural tremor, Head tit...	OMIM:615491
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233690
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Abnormal circulating interleukin concentration, Rheumatoid arthritis, Band keratopathy,...	ORPHA:85410
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Hypocholesterolemia, Dysplastic corpus callosum, Peripheral axonal neuropathy, De...	OMIM:618810
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Cerebral atrophy, Eye of the tiger anomaly of globus pallidus, Neurodegenerat...	OMIM:300894
Yellow Fever	Diarrhea, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concentration, Neutro...	ORPHA:99829
Liposarcoma	Sarcoma, Abnormality of the kidney	ORPHA:69078
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypocalcemia, Focal white matter lesions, Dysplastic corpus callosum, Epicanthu...	ORPHA:557003
Staphylococcal Necrotizing Pneumonia	Pneumonia, Sepsis, Leukopenia, Leukocytosis, Severe infection, Acute infectious pneumonia, Neutro...	ORPHA:36238
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Neurodegeneration, Long eyelashes, Cerebral calcification, Hypocalcemia, Agenesis ...	OMIM:618476
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun...	OMIM:167730
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Downslanted palpebral fissures, Dysplastic corpus callosum, Microcephaly, High palate, Dysphagia,...	OMIM:620001
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Corneal scarring, Reduced...	OMIM:301220
Dyskeratosis Congenita	Periodontitis, Cerebral calcification, Displacement of the urethral meatus, Esophageal stenosis, ...	ORPHA:1775
Congenital Syphilis	Pneumonia, Cataract, Optic atrophy, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosple...	ORPHA:499009
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Opportunistic infection, Opportunistic bacterial infection, ...	ORPHA:2035
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ...	OMIM:276300
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca	OMIM:270150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Dysplastic corpus cal...	OMIM:604273
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors...	ORPHA:363444
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Brain abscess, Elevated circulating hepatic transaminase concentration, Anemia, Abnorma...	ORPHA:54251
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Histiocytoma, Presenile cataracts, Fibrosarcoma, Osteomyelitis leading to amputation due to slow ...	OMIM:112250
Pili Torti-Onychodysplasia Syndrome	Eczematoid dermatitis, Absent eyelashes, Conjunctival hyperemia, Absent eyebrow, Cleft palate	ORPHA:2890
Neovascular Glaucoma	Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Retinal vascula...	ORPHA:94058
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level, Secretory diarrhea, Ptosis, Seborrheic dermatitis, Hyper...	OMIM:167100
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Dural ectasia, Ectopia lentis, Downslanted palpebral fissures, Keratoconjunc...	OMIM:616914
Flotch Syndrome	Neoplasm of the skin, Sparse eyelashes, Nephrolithiasis, Abnormal eyelid morphology, Inflammatory...	ORPHA:2045
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Downslanted palpebral fissures, Secondary microcephaly, Dysplastic co...	ORPHA:357058
Multiple Endocrine Neoplasia Type 4	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:276152
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Distichiasis, Ptosis, Ectropion, Conjunctivitis, Corneal ulceration, ...	OMIM:153400
White-Kernohan Syndrome	Short palpebral fissure, Gastroesophageal reflux, Horizontal eyebrow, Hydroureter, Rectovaginal f...	OMIM:619426
Multiple Endocrine Neoplasia Type 1	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary thyro...	ORPHA:652
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Reduced renal corticomedullary differentiation, Peripheral hypomyelina...	OMIM:618733
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu...	ORPHA:77297
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Psoriasiform dermatitis, Microcephaly, Decreased LDL cholesterol concentrati...	OMIM:616834
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Spastic Ataxia, Charlevoix-Saguenay Type	Cerebellar vermis atrophy, Onion bulb formation, Hypermyelinated retinal nerve fibers, Decreased ...	OMIM:270550
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Parathyroid adenoma, Dysphagia, Pancreatic adenocarcinoma, Thyroid carcinoma, R...	ORPHA:99880
Meige Disease	Recurrent skin infections, Recurrent bacterial skin infections, Angiosarcoma	ORPHA:90186
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Sparse eyebrow, Hamartoma of the orbital region, Recurrent upper respiratory tract infe...	ORPHA:2399
Parathyroid Carcinoma	Hypophosphatemia, Dysphagia, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal insufficiency, N...	ORPHA:143
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers	ORPHA:90103
Achalasia, Familial Esophageal	Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca	OMIM:200400
Pyruvate Dehydrogenase E2 Deficiency	Arm dystonia, Eye of the tiger anomaly of globus pallidus, Neurodegeneration, Abnormal circulatin...	ORPHA:79244
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:50918
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating creatinine concentration, Recur...	OMIM:223900
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi...	ORPHA:91416
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:306400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function, Recurrent candida infections, Hypogonadism, Decreased testicu...	OMIM:201100
Follicular Lymphoma	Meningitis, Splenomegaly, Lymphoma	ORPHA:545
Classical-Like Ehlers-Danlos Syndrome Type 2	Narrow palate, Periodontitis, Bilateral ptosis, Astigmatism, Cryptorchidism, Keratoconjunctivitis...	ORPHA:536532
Spongiform Encephalopathy With Neuropsychiatric Features	Cerebral cortex with spongiform changes, Gliosis, Neurofibrillary tangles	OMIM:606688
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Bifid uvula, Sensory axonal neuropathy, Facial diplegia, Hypoplasia of the...	OMIM:619121
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Rhinitis, Ptosis	ORPHA:157835
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia, Amyotrophic lateral sclerosis, Neurodegeneration, Motor neuron atroph...	ORPHA:803
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Gastroesophageal reflux, Optic nerve hypoplasia, Anteriorly placed anus, Long eye...	ORPHA:495875
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Downslanted palpebral fissures, Chronic constipation, Decreased number of peripheral myelinated n...	ORPHA:477817
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Epicanthus, Bilateral renal dysp...	ORPHA:500150
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Neutrophilia, Elevated circulating C-re...	OMIM:612852
Adenohypophysitis	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Decreas...	ORPHA:95512
Lacrimoauriculodentodigital Syndrome	Xerostomia, Cryptorchidism, Keratoconjunctivitis, Abnormal lacrimal gland morphology, Dysphagia, ...	ORPHA:2363
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Basal ganglia calcification, Long eyelashes, Thick eyebrow, Cerebral calcification...	OMIM:617281
Down Syndrome	Keratoconus, Decreased fertility, Protruding tongue, Acute megakaryocytic leukemia, Chronic const...	ORPHA:870
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Multiple...	ORPHA:220460
Xeroderma Pigmentosum	Aminoaciduria, Cataract, Optic atrophy, Ankyloblepharon, Keratitis, Cerebral cortical atrophy, Pt...	ORPHA:910
Leptospirosis	Uveitis, Diarrhea, Acute kidney injury, Hepatitis, Skin rash, Conjunctival hyperemia, Elevated se...	ORPHA:509
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplasia of the corpus callosum, Urinary bladder wall hypertrophy, Epicanthus, Anal atresia, Hi...	ORPHA:280633
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Abnormality of the kidney, Adenoma ...	ORPHA:201
Panhypophysitis	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Decreas...	ORPHA:95513
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Iris atrophy, Ptosis, Hypohidrosis, Anhidrosis, Urinary incontinence, ...	OMIM:146500
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Xerostomia, Keratoconjunctivitis sicca, Hypohidrosis, Constipation, Ab...	ORPHA:43393
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Multiple lipomas, Seborrheic dermatitis, Ovarian serous cystadenoma, Hydrocele te...	ORPHA:276280
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Dystonia, Cerebral atrophy, Exaggerated startle response	OMIM:272750
Obesity Due To Congenital Leptin Deficiency	Recurrent upper respiratory tract infections, Decreased testicular size, Decreased proportion of ...	ORPHA:66628
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Corneal scarring, Recurrent corneal erosions, Anhidrosis, Decreased num...	OMIM:256800
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Global brain atrophy, Eye of the tiger anomaly of globus pallidus, ...	OMIM:234200
Obesity Due To Leptin Receptor Gene Deficiency	Recurrent upper respiratory tract infections, Decreased testicular size, Decreased proportion of ...	ORPHA:179494
Giant Cell Arteritis	Optic atrophy, Hepatic failure, Gastrointestinal infarctions, Renal insufficiency, Hematuria, Pto...	ORPHA:397
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Sunct Syndrome	Vomiting, Conjunctival hyperemia, Nausea, Ptosis, Hyperhidrosis, Palpebral edema, Episodic hyperh...	ORPHA:57145
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Ileal atresia, Secondary microcephaly, Streak ovary, Cryptorchidism, Agenes...	OMIM:618820
Kapur-Toriello Syndrome	Polymicrogyria, Intestinal malrotation, Dysplastic corpus callosum, Hypoplastic labia majora, Con...	ORPHA:2328
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Gastroesophageal reflux, Episodic hyperhi...	OMIM:201300
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia...	ORPHA:707
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, Iron deficiency anemia, ...	ORPHA:309031
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, ...	OMIM:610217
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:567983
Acute Radiation Syndrome	Cataract, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pne...	ORPHA:454831
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Sheehan Syndrome	Central adrenal insufficiency, Decreased female libido, Decreased circulating cortisol level, Ame...	ORPHA:91355
Cerebrofacioarticular Syndrome	Renal hypoplasia, Anal stenosis, Anteriorly placed anus, Hypoplasia of the corpus callosum, Agene...	ORPHA:314679
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Microglossia, Anteriorly placed anus, Lacrimal duct stenosis, Cryptorc...	OMIM:151050
Cutis Laxa, Autosomal Recessive, Type Iid	Cataract, Downslanted palpebral fissures, Bilateral cryptorchidism, Hypoplasia of the corpus call...	OMIM:617403
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Mitochondrial Complex I Deficiency, Nuclear Type 2	Dystonia, Increased serum pyruvate, Gliosis	OMIM:618222
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Basal Cell Nevus Syndrome 2	Neurofibroma, Meningioma, Calcification of falx cerebri, Medulloblastoma, Angiofibromas, Basal ce...	OMIM:620343
Interstitial Granulomatous Dermatitis With Arthritis	Elevated circulating C-reactive protein concentration, Pruritus, Rheumatoid arthritis, Inflammato...	ORPHA:79099
Acute Transverse Myelitis	Urinary retention, Priapism, Urinary bladder sphincter dysfunction, Severe viral infection, Gastr...	ORPHA:139417
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Abnormal salivary gland morphology, Pancytopenia, Abnormalit...	OMIM:181000
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibr...	ORPHA:805
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Facial paralysis, Cerebellar atrophy, Head tremor, Decreased number of peripheral ...	ORPHA:99949
Lacrimoauriculodentodigital Syndrome 1	Corneal perforation, Xerostomia, Renal agenesis, Lacrimal gland hypoplasia, Downslanted palpebral...	OMIM:149730
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration, Conjunctival telangiectasia, Microcephaly, Dysphagia	OMIM:615919
Diets-Jongmans Syndrome	Cryptorchidism, Gliosis, Thick corpus callosum, Hypospadias, Duodenal atresia	OMIM:618846
Sotos Syndrome	Small cell lung carcinoma, Aplasia/Hypoplasia of the corpus callosum, Decreased fertility, Crypto...	ORPHA:821
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Hypoplasia of the corpus callosum, Focal white matter lesions, Optic neuropathy, O...	ORPHA:320375
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Granuloma, Ossifying fibroma, Schwannoma, Hypoplasia of the corpus callosum, Renal hypoplasia/apl...	ORPHA:363700
Velocardiofacial Syndrome	Retinal vascular tortuosity, Impaired T cell function, Velopharyngeal insufficiency, Hypocalcemia...	OMIM:192430
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Long eyelashes, Absent scrotum, Microcephaly, Keratoconjunctivitis sicca, Laterally extended eyeb...	OMIM:618479
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Microglossia, Thin eyebrow, Telecanthus, Facial capillary hemangioma, De...	ORPHA:364577
Autosomal Dominant Spastic Paraplegia Type 42	Degeneration of the lateral corticospinal tracts, Spinal cord lesion	ORPHA:171863
Williams Syndrome	Megalocornea, Cryptorchidism, Polycystic ovaries, Epicanthus, Posterior embryotoxon, Blepharophim...	ORPHA:904
Eec Syndrome	Sparse eyebrow, Keratitis, Xerostomia, Lymphoma, Decreased response to growth hormone stimulation...	ORPHA:1896
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Uterus didelphys, Septate vagina, Psoriasiform dermatitis, Renal insuf...	ORPHA:2237
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers, Anhidrosis	ORPHA:64752
Zttk Syndrome	Optic atrophy, Sparse eyebrow, Unilateral renal agenesis, Bifid uvula, Downslanted palpebral fiss...	OMIM:617140
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulati...	ORPHA:99889
Witteveen-Kolk Syndrome	Male urethral meatus stenosis, Glue ear, Hypoplasia of the corpus callosum, Epicanthus, Delayed C...	OMIM:613406
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Axial dystonia, Tremor, Conjunctival hyperemia, Dystonia	ORPHA:240071
Juvenile Polyposis Syndrome	Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal...	ORPHA:2929
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Epicanthus, Microcephaly, Hypothyr...	OMIM:618569
Arachnoiditis	Urinary bladder sphincter dysfunction, Meningitis, Anhidrosis	ORPHA:137817
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:565612
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukocoria, Leukemia, Cleft palate, Osteosarcoma	OMIM:180200
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Downslanted palpebral fissures, Oroticaciduria, Abnormal...	ORPHA:30
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Abnormal urinary color	ORPHA:234
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Optic atrophy, Tremor, Ptosis, Tongue atrophy, Myelin outfoldings	ORPHA:99956
Sacral Defect With Anterior Meningocele	Hydromyelia, Urinary retention, Myeloschisis, Neurogenic bladder, Constipation, Rectal abscess, M...	OMIM:600145
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophimo...	OMIM:129900
Hypermobile Ehlers-Danlos Syndrome	Menometrorrhagia, Keratoconus, High, narrow palate, Gastroesophageal reflux, Cystocele, Decreased...	ORPHA:285
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophimo...	OMIM:604292
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,...	OMIM:258900
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Iritis, Myeloproliferative disorder, Blepharitis, Uveitis	ORPHA:158000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Neonatal Inflammatory Skin And Bowel Disease	Blepharitis, Horizontal eyebrow, Chapped lip, Bloody diarrhea, Anal fissure, Psoriasiform dermati...	ORPHA:294023
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de...	OMIM:612132
Phacoanaphylactic Uveitis	Posterior uveitis, Red eye, Panuveitis, Keratitis, Posterior synechiae of the anterior chamber, A...	ORPHA:209959
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ...	ORPHA:1876
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Upslanted palpebral fissure, Tremor, Cryptorchidism...	OMIM:300967
Hydranencephaly	Cerebral cortical atrophy, Abnormal corpus striatum morphology, Opisthotonus, Primary microcephal...	ORPHA:2177
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Gastroesophageal reflux, Pseudobulbar paralysis, Downslanted palpebral fissu...	ORPHA:466791
Primrose Syndrome	Posterior polar cataract, Downslanted palpebral fissures, Neurodegeneration, Bilateral cryptorchi...	OMIM:259050
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Idiopathic Panuveitis	Red eye, Cataract, Posterior synechiae of the anterior chamber, Conjunctival hyperemia	ORPHA:280921
Huppke-Brendel Syndrome	CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental cataract, Decreased circ...	OMIM:614482
Spastic Paraplegia 42, Autosomal Dominant		OMIM:612539

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 Slc33a1

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 Slc33a1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Deficient Endoplasmic Reticulum Acetyl-CoA Import in Pancreatic Acinar Cells Leads to Chronic Pancreatitis.	Cellular and molecular gastroenterology and hepatology (October 2020)	Slc33a1^{tm1a(KOMP)Wtsi}	PMC7841443

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
Slc33a1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc33a1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Slc33a1^{tm44962(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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