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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 (935 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	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171863
Huppke-Brendel Syndrome	Cerebellar atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulating copp...	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	Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ...	OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D...	OMIM:307200
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti...	OMIM:614700
Zika Virus Disease	Maculopapular exanthema, Skin rash, Microcephaly, Pruritus, Thrombocytopenia, Congenital intracer...	ORPHA:448237
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri...	ORPHA:37042
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, ...	OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive...	OMIM:615559
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin...	ORPHA:33110
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Chronic lymphocytic meningi...	OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, Arthritis...	OMIM:601457
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, ...	ORPHA:167
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis,...	OMIM:607594
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, E...	ORPHA:449563
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, L...	ORPHA:3261
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Immunodeficiency 46	Chronic oral candidiasis, Recurrent sinopulmonary infections, Chronic diarrhea, Neutropenia, Seps...	OMIM:616740
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au...	OMIM:616100
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat...	OMIM:612692
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat...	OMIM:615897
Sporadic Creutzfeldt-Jakob Disease	Sepsis, Cerebral atrophy, Astrocytosis, Recurrent infections, Cerebral cortex with spongiform cha...	ORPHA:204
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Recurrent candida infections, Recurrent abscess formation, Otitis media, Decrea...	ORPHA:169160
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Eosinophilia, Tremor, Atrophy of the spinal c...	ORPHA:99965
Lymphoproliferative Syndrome 2	Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Severe varicella zoste...	OMIM:615122
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb...	ORPHA:47
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Sepsis, Vomiting, Abn...	ORPHA:2552
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Hematological neoplasm, Keratitis, Dacryocysti...	ORPHA:1163
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Meningitis...	ORPHA:3392
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Meningitis, Peritonitis, Sepsis, Neoplasm, Vomiting,...	ORPHA:1546
Adrenomyeloneuropathy	Peripheral axonal degeneration, Urinary incontinence, Bowel incontinence, Atrophy/Degeneration in...	ORPHA:139399
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc...	ORPHA:98813
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand...	OMIM:604484
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Oropharyngeal squamous cell carcinoma, Recurrent herpes, Functional abnormality ...	ORPHA:391487
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thrombocytopenia, ...	OMIM:603552
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Urinary incontinence, Basal ganglia calcification, Cerebral atrophy, Leukoenceph...	OMIM:221770
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess...	ORPHA:31202
Neuromyelitis Optica Spectrum Disorder	Nausea, Functional abnormality of the bladder, Optic neuritis, Neuronal loss in central nervous s...	ORPHA:71211
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Leukocytosis, Severe ...	ORPHA:206594
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, L-2-hydroxyglutaric acidemia, Severe demyelination of the white matter, Corpu...	OMIM:236792
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele...	ORPHA:454836
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Severe demyelination of the white matter, Megaloblastic anemia, Hyperhomocysti...	ORPHA:79282
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Peripheral axonal neuropathy, Atrophy of the spinal cord, Decreased circulati...	OMIM:256840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent viral infections, Severe varicella zoster infection, Decreased proportion of CD4-positi...	OMIM:300853
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Microcephaly, Cerebellar gliosis, Partial agenesis of the corpus callos...	ORPHA:79243
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abnormality of the menstru...	ORPHA:556
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Delayed CNS myelination, Recurrent urinary tract infections, Recurrent skin infectio...	OMIM:620210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Tongue atrophy, Cataract, Abnormal peripheral myelination, Urinary incontinen...	ORPHA:466768
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Villous atrophy, Recurrent respiratory infections, Eczema, Chronic diarrhea, Oligoar...	OMIM:619510
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Recurrent urinary tract infections, Upper limb postural tremor, Action tremor, Tremor...	ORPHA:99027
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Peripheral demyelination, Cerebral atrophy, Axonal loss, Neurodegen...	OMIM:617672
New-Onset Refractory Status Epilepticus	Abnormal basal ganglia MRI signal intensity, Abnormal circulating interleukin concentration, Foca...	ORPHA:363558
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Basal ganglia calcification, Bloody diarrhea, Hypothyroidism, Hemolytic anemi...	OMIM:615846
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Cataract, Corpus callosum atrophy, Elevated circulating phytanic acid concent...	OMIM:614877
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Elevated hepatic tr...	OMIM:603553
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Japanese Encephalitis	Tremor, Opisthotonus, Choreoathetosis, Abnormal caudate nucleus morphology, Vomiting, Infectious ...	ORPHA:79139
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Meningitis, Optic atrophy, Unusual CNS i...	ORPHA:447788
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia...	OMIM:606367
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Recurrent herpes, Recurrent staphylococcal infections, Lymphaden...	ORPHA:331235
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Cerebellar atrophy, Abnormal circulating enzyme concentration or a...	ORPHA:168486
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227990
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Meningiti...	ORPHA:292
Krabbe Disease	Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Optic atrophy, Reduced galactocerebrosidas...	OMIM:245200
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner...	OMIM:302800
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Abnormality of ...	ORPHA:449432
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Microcephaly, Gliosis, Hypoplasia of the corpus callosum, Neuronal loss ...	OMIM:614959
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Optic atrophy, Astrocytosis, Basal ganglia cysts, Choreoathetosis, Gastroesophageal ref...	ORPHA:225154
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Abnormality of the kidney, Microcephaly, Cryptorchidism, Hyperammonemia, Aplasia/Hyp...	ORPHA:1194
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Microcephaly, Cryptorchidism, Basal gangl...	OMIM:214150
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Telecanthus, Hypospadias, Gastritis, Megaloblastic anemia, Abno...	ORPHA:2575
Immunodeficiency 83, Susceptibility To Viral Infections	Meningitis, Herpes simplex encephalitis, Gliosis	OMIM:613002
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Activated Pi3K-Delta Syndrome	Pneumonia, Microcephaly, Splenomegaly, Severe varicella zoster infection, Lymphoma, Recurrent ton...	ORPHA:397596
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency, Cervical spinal cord atrophy, Crohn's disease	OMIM:619621
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Ax...	OMIM:604168
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Astrocytosis, Dystonia, Neuronal loss in central nervous system, Cerebral c...	OMIM:600795
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Myoc...	ORPHA:809
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Sézary Syndrome	Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Tremor, Lymphom...	ORPHA:3162
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Atrophy of the spinal cord, Partial agenesis of the corpus callosum, Neuronal loss ...	ORPHA:86822
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Microcephaly, Atrophy o...	ORPHA:395
Autosomal Dominant Spastic Paraplegia Type 9B	Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Focal dystonia, Develo...	ORPHA:447757
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Diarrhea, Splenomegaly...	ORPHA:549
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur...	ORPHA:37202
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Corpus callosum atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Gliosis,...	OMIM:221820
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Opisthotonus, Axonal loss, Gliosis, Decreased urinary sulfa...	OMIM:252150
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Pruritus, Lymphoma, Neoplasm, Multiple myeloma, S...	ORPHA:454
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Cerebral atrophy, Atrophy/Degeneration affecting ...	ORPHA:445062
Trichothiodystrophy	Congenital exfoliative erythroderma, High, narrow palate, Partial agenesis of the corpus callosum...	ORPHA:33364
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot...	ORPHA:35689
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati...	OMIM:191900
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Abnor...	OMIM:619573
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec...	OMIM:618131
Netherton Syndrome	Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Eczema, Allergic rh...	OMIM:256500
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Renal duplication, Urinary bladder inflammation, C...	ORPHA:79403
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy...	OMIM:304790
L-2-Hydroxyglutaric Aciduria	Neoplasm of the nervous system, Infectious encephalitis	ORPHA:79314
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Tremor, Diffuse spongiform leukoencephalopathy, Astrocytosis, C...	ORPHA:282166
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Facial palsy,...	OMIM:601596
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Retinal va...	OMIM:618969
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Gastroesophageal reflux, Abnormality of the male genitalia, Agenesis of corp...	ORPHA:847
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA...	OMIM:603909
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Elevated circulating creatine kinase concentr...	OMIM:208920
Listeriosis	Liver abscess, Tremor, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjun...	ORPHA:533
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Superficial Siderosis	Cerebellar atrophy, Atrophy of the spinal cord, Abnormal spinal cord morphology, Functional abnor...	ORPHA:247245
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Head titubation, Increased circulating ferritin concentration, Diarrhea...	ORPHA:3240
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der...	OMIM:603165
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Gm1 Gangliosidosis	Recurrent respiratory infections, Generalized dystonia, Corneal opacity, Dystonia, Abnormal retin...	ORPHA:354
Pfapa Syndrome	Malabsorption, Splenomegaly, Recurrent pharyngitis, Arthritis, Infectious encephalitis	ORPHA:42642
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Meningi...	OMIM:212050
Alexander Disease Type Ii	Periventricular cysts, Dysphagia, Abnormal periventricular white matter morphology, Urinary bladd...	ORPHA:363722
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Optic atrophy, Hypoplasia o...	ORPHA:329308
Leigh Syndrome	Gastrointestinal dysmotility, Choreoathetosis, Encephalomalacia, Gliosis, Complex organic aciduri...	ORPHA:506
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Epidermal Nevus Syndrome	Rhabdomyosarcoma, Spinal cord compression, Atrophy of the spinal cord, Spinal cord tumor, Astigma...	ORPHA:35125
Typhoid	Gastrointestinal hemorrhage, Skin rash, Tremor, Splenomegaly, Diarrhea, Constipation, Infectious ...	ORPHA:99745
Autosomal Recessive Spastic Paraplegia Type 5A	Cataract, Atrophy of the spinal cord, Abnormal cerebral white matter morphology, Abnormality of t...	ORPHA:100986
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Abnormal cerebral white matter morphology, Axonal degeneration, Elevated circulating creatine kin...	OMIM:618138
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Demyelinating sensory neuropathy, Optic nerve hypoplasia, Urinary incontinence, D...	ORPHA:101085
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Recu...	OMIM:604173
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ...	OMIM:601495
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Cataract, Chronic active hepatitis, Premature ovarian ins...	OMIM:240300
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Myocarditis, Splenomegaly, Meningitis, ...	ORPHA:83317
Autosomal Recessive Spastic Paraplegia Type 11	Peripheral axonal neuropathy, Abnormal substantia nigra morphology, Atrophy of the spinal cord, L...	ORPHA:2822
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ...	OMIM:613501
De Sanctis-Cacchione Syndrome	Entropion, Microcephaly, Keratitis, Bilateral cryptorchidism, Basal ganglia calcification, Axonal...	OMIM:278800
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Molybdenum cofactor deficiency, Hypouricemia, Xanthine nephrolithiasis,...	OMIM:252160
C1Q Deficiency 3	Discoid lupus rash, Recurrent bacterial meningitis	OMIM:620322
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Dystonia, Global brain atrophy, Mot...	OMIM:618276
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, High palate, Recurrent acute respiratory tract...	OMIM:620011
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Optic atrop...	OMIM:616239
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Increased mean platelet volume, Hypothyroidism, Splen...	ORPHA:84064
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, De...	OMIM:242150
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Pruritus, Splenomegaly...	ORPHA:36412
Focal Cortical Dysplasia, Type Ii	Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Astrocytosis, Focal whi...	OMIM:607341
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, Increased circula...	ORPHA:277
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytop...	OMIM:617591
Chronic Graft Versus Host Disease	Fasciitis, Xerostomia, Gastroesophageal reflux, Nausea, Bronchiectasis, Abnormal esophagus physio...	ORPHA:99921
Q Fever	Elevated hepatic transaminase, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, U...	ORPHA:781
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Chronic diarrhea, Recurrent pneumonia...	OMIM:619824
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Epicanthus, Axonal degeneration, Cleft palate, Upslanted palpebra...	OMIM:162100
Hemimegalencephaly	Pachygyria, Optic atrophy, Hemimegalencephaly, Gliosis, Hyperintensity of cerebral white matter o...	ORPHA:99802
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Cerebral calcification, Sepsis, Leukopenia, Conjunctivitis, Hypoalbuminemia, Decreased circulatin...	ORPHA:505248
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Delayed CNS myelination, Cataract, Reduced cerebral white matter volume, Simp...	OMIM:615095
Biotinidase Deficiency	Diffuse cerebral atrophy, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomega...	OMIM:253260
Meningococcal Meningitis	Papilledema, Renal insufficiency, Projectile vomiting, Skin rash, Elevated circulating C-reactive...	ORPHA:33475
Omenn Syndrome	Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymphoma, Thyroi...	ORPHA:39041
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Dysphagia, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh...	ORPHA:1304
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Reynolds Syndrome	Skin rash, Pruritus, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Keratoc...	ORPHA:779
Paraparetic Variant Of Guillain-Barré Syndrome	Recurrent acute respiratory tract infection, Peripheral axonal neuropathy, Urinary bladder sphinc...	ORPHA:231445
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Friedreich Ataxia	Dystonia, Optic atrophy, Dysphagia, Urinary bladder sphincter dysfunction, Sensory axonal neuropa...	ORPHA:95
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Chronic di...	OMIM:619281
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Urinary incontinence, Gliosis, Dysphagia,...	OMIM:607136
Neurocutaneous Melanocytosis	Renal hypoplasia/aplasia, Melanoma, Neoplasm, Syringomyelia, Infectious encephalitis	ORPHA:2481
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Severe viral i...	ORPHA:319251
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Brain neoplasm, Neurofibrillary tangles, Temporal cortica...	ORPHA:100070
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Atrophy of the spinal cord, Motor axonal neuropathy	ORPHA:139480
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Diffuse leukoenc...	OMIM:169500
Nipah Virus Disease	Tremor, Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect...	OMIM:300635
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin...	OMIM:619079
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona...	ORPHA:275872
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Abnormal cerebral white matter morphology, Astrocytosis	ORPHA:275864
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Osteomyelitis, Bowel incontinence, Truncal titubation, Gastrointestinal dysmotility, Ax...	ORPHA:88628
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Sparse eyelashes, Eczema, Malabsorption, Sparse eyeb...	ORPHA:634
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence, Dysphagia, CNS demyelination, Abnormal periventricular white matter morphol...	OMIM:249900
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropio...	ORPHA:33001
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Urinary incontinence, Axonal degeneration, Hyperhidrosis, Degener...	OMIM:604320
Acute Disseminated Encephalomyelitis	Viral hepatitis, Hypointensity of cerebral white matter on MRI, Disseminated viral infection, Sev...	ORPHA:83597
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis	OMIM:617900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, B-c...	OMIM:102700
Muckle-Wells Syndrome	Episcleritis, Skin rash, Splenomegaly, Optic atrophy, Uveitis, Arthritis, Nephrotic syndrome, Con...	ORPHA:575
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Epicanthus, Spinocerebellar tract disease in lower limbs, Corpus callosum atr...	OMIM:248500
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Increased red blood cell count, Sinusitis, Pneumonia, Facial palsy, Pustu...	ORPHA:68
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Malabsorption, Myocarditis, Di...	ORPHA:3452
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tr...	OMIM:614069
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Cerebral cortical atrophy	OMIM:113610
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural...	OMIM:180800
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Sepsis, Recurrent cutaneous fungal infections, Squamous...	ORPHA:477
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration,...	OMIM:617193
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,...	OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Axonal degeneration, Axonal degeneration/regeneration	OMIM:614436
Crigler-Najjar Syndrome	Jaundice, Infectious encephalitis	ORPHA:205
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Laryngeal papilloma, Elevated circulating C-reactive protein concent...	OMIM:617388
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Recurrent urinary tract infections, Cataract,...	OMIM:609033
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Premature ovarian insufficiency, Medul...	OMIM:251260
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Lacticaciduria, Microcytic anemia	OMIM:618811
Peeling Skin Syndrome 1	Eosinophilia, Pruritus, Increased circulating IgE level, Palmoplantar hyperhidrosis, Erythroderma	OMIM:270300
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi...	OMIM:243700
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Basal ganglia calcification, Microcornea, Lentiglobus, Gastroesoph...	ORPHA:90324
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, B-cell lymphoma, Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Recurrent u...	OMIM:616005
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Hypermethioninemia, Dystonia	OMIM:250850
Shigellosis	Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ile...	ORPHA:810
Incontinentia Pigmenti	Cataract, Corneal opacity, Skin rash, Eosinophilia, Keratitis, Retinal vascular proliferation, Uv...	ORPHA:464
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Impaired T cell function, Inflammation of the...	OMIM:614576
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode...	OMIM:614328
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Malabsorption, Microcephaly, Chronic diarrhea, Squamous cell ca...	OMIM:601675
Tay-Sachs Disease	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Exaggerated startle re...	ORPHA:845
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Cessation of head growth, Optic atrophy, Primary amenorrhea, Sec...	OMIM:603896
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis, Simplified gyral pattern	OMIM:618328
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter...	OMIM:193670
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Cataract, Skin rash, Generalized dystonia, Diarrhea, Cerebral atrophy, Abnormal cer...	OMIM:618321
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Pruritus, Abnormality of the spleen, Diarrhea, Vomiting, Myeloprolif...	ORPHA:79456
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Omenn Syndrome	Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Diar...	OMIM:603554
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Atrophy of the spinal cord	OMIM:612020
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Axonal degeneration	OMIM:616155
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:145900
American Trypanosomiasis	Skin rash, Aganglionic megacolon, Myocarditis, Diarrhea, Splenomegaly, Achalasia, Infectious ence...	ORPHA:3386
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Decreased phosphoribosylpyrophosphate synthetase level, Segm...	OMIM:311070
Roifman Syndrome	Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Microcephaly, Recurrent pneumonia, Prominent...	ORPHA:353298
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Recurrent infections, Erythroderma, Anal atre...	OMIM:617425
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Cerebral calcification, Elevated circulating C-reactive protein concentrat...	OMIM:619644
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Reduced cerebral white matter volume, Dysplastic corpus callosum, Synoph...	OMIM:620317
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Elevated hepatic transaminase, Dystonia, Abnormal bl...	ORPHA:309854
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,...	OMIM:118200
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Cerebellar atrophy, Focal cortical dysplasia, Neuronal loss in basal ga...	OMIM:604377
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration	ORPHA:90103
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Urinary incontinence, Degeneration of the...	OMIM:604360
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	OMIM:614895
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur...	ORPHA:101097
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath...	OMIM:182815
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C...	OMIM:618048
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Tremor, Dysplastic corpus callosum, Delayed myelination, Dystonia	ORPHA:599373
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Torticollis, Gliosis, Dysphagia, Cerebral cortical atrophy	OMIM:618369
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Axonal degeneration/r...	OMIM:600882
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Erythroderma, Cerebral cortical atrophy, Intent...	OMIM:133190
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cereb...	ORPHA:497764
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Liver Disease, Severe Congenital	Chronic gastritis, Sepsis, Leukopenia, Aminoaciduria, Vomiting, Protein-losing enteropathy, Hypoc...	OMIM:619991
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe...	OMIM:619437
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Facial palsy, Protruding tongue, Astrocytosis, Macroglossia, Highly elevated creatine k...	ORPHA:258
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Cataract, Gastroparesis, Intestinal pseudo-obstruction, Atrophy/Deg...	OMIM:607459
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce...	ORPHA:3243
Huntington Disease	Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis	OMIM:143100
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Eczema, Elevated circulating creatine kinase concentration, Lympha...	OMIM:615895
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, O...	OMIM:613179
Immunodeficiency 32B	Recurrent respiratory infections, Sinusitis, Cerebral calcification, Pneumonia, Neutrophilia, Eos...	OMIM:226990
Cerebrotendinous Xanthomatosis	Abnormal eyelid morphology, Abnormal globus pallidus morphology, Axonal degeneration, Gliosis, Ju...	ORPHA:909
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Diffuse cerebellar atrophy, Vomitin...	ORPHA:101111
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Re...	OMIM:614172
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Dystonia, Urinary incontinence, Dysmyelinating leukodystrophy, Optic atrophy,...	OMIM:612319
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransfera...	OMIM:271245
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Progressive Osseous Heteroplasia	Osteoarthritis, Sarcoma	ORPHA:2762
Pityriasis Rubra Pilaris	Eczema, Pustule, Pruritus, Neoplasm, Erythroderma	ORPHA:2897
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Tremor, Optic atrophy, Peripheral axonal ...	OMIM:609260
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Cerebral dysmyelination, Microcephaly, High, narrow palate, Velopharyng...	OMIM:201550
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Elevated circulating C-reac...	ORPHA:32960
Amyotrophy, Monomelic	Cervical spinal cord atrophy	OMIM:602440
Lassa Fever	Menometrorrhagia, Diarrhea, Jaundice, Oliguria, Sepsis, Increased circulating IgM level, Conjunct...	ORPHA:99824
Pontocerebellar Hypoplasia, Type 4	Microcephaly, Gliosis, Dysphagia	OMIM:225753
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Onion bulb formation, Peripheral demyelination, Hand tremor	OMIM:618279
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hypothyroidism, Recurre...	OMIM:619750
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis, Meningitis	ORPHA:91546
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation, Hypoplasia of the corpus callosum	OMIM:615035
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Chronic diarrhea, Olig...	OMIM:142680
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration, Dysphagia	OMIM:607736
Biotinidase Deficiency	Skin rash, Optic neuropathy, Recurrent viral infections, Myelopathy, Optic atrophy, Hyperammonemi...	ORPHA:79241
Alkaptonuria	Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis	ORPHA:56
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Cysticercosis	Cerebral calcification, Posterior fossa cyst at the fourth ventricle, Iridocyclitis, Spinal arach...	ORPHA:1560
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Hartnup Disease	Glossitis, Abnormal urinary color, Skin rash, Malabsorption, Infectious encephalitis, Neutral hyp...	ORPHA:2116
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bilateral basal ganglia lesions, Microcephaly, Gliosis, Bloody diarrhea	OMIM:615119
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Neurodegeneration, Cerebral atrophy	OMIM:610951
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Ollier Disease	Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H...	ORPHA:296
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ...	OMIM:616050
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Squamous cell carcinoma, Erythroderma, Puncta...	OMIM:602540
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Cataract, Proteinuria, Tremor, Cryptorchidism...	ORPHA:90321
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, White eyebrow, Aganglionic megacolon, Short-segment aganglionic meg...	OMIM:609136
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Alexander Disease	Cerebral calcification, Facial palsy, Bowel incontinence, Megalencephaly, Precocious puberty, Hyp...	ORPHA:58
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D...	ORPHA:31204
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis,...	OMIM:619164
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Microcephaly, Bronchiolitis, Periodontitis, Reduction of neutrophil moti...	OMIM:266265
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination, Dystonia	OMIM:616684
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Microcephaly, Optic atrophy, Gliosis, Neuronal loss in central nervous s...	OMIM:614498
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis	ORPHA:330064
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Impaired oropharyngeal swallow response, Onion bulb formation, Acute demyelinating polyneuropathy	ORPHA:98916
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Microcephaly, Simplified gyral pattern, CNS hypomyelination, T lymphocytopenia, B lymphocytopenia...	OMIM:615966
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Re...	ORPHA:31826
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis, Megalencephaly, Astrocytosis	OMIM:611087
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Cataract, Gastroparesis, Intestinal pseudo-obstruction, Atrophy/Degeneration involving the spinal...	ORPHA:70595
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy	OMIM:604218
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Leukodystrophy, Recur...	ORPHA:79124
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
Lissencephaly, X-Linked, 2	Diarrhea, High palate, Gliosis, Lissencephaly, Ambiguous genitalia, Micropenis, Pachygyria, Agene...	OMIM:300215
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi...	OMIM:619652
Metachromatic Leukodystrophy	Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Optic atrophy, Abnormal cerebra...	OMIM:250100
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Entropion, Ac...	ORPHA:537
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Neoplasm of the central nervous system, Neoplasm...	ORPHA:69077
Cap Polyposis	Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis	ORPHA:160148
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Hypoplasia of the corpus callosum	ORPHA:2386
Cernunnos-Xlf Deficiency	Microcephaly, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,...	ORPHA:169079
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine...	OMIM:616733
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,...	OMIM:618282
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Leukopenia, Conjun...	OMIM:305000
Spinocerebellar Ataxia, Autosomal Recessive 2	Tremor, Gliosis, Cerebellar vermis atrophy	OMIM:213200
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Microcephaly, Cryptorchidism, Primary microcephaly, Cerebral atrophy, Opisthotonus...	OMIM:619847
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Thrombocytopenia, Atrophy/Degeneratio...	OMIM:614946
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu...	OMIM:607250
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Sepsis, Neutropenia, Disseminated molluscum contagiosum, Bronchiectas...	OMIM:614868
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Nausea, Hypogonadotropic hypogon...	ORPHA:298
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Dyspareunia, Renal insufficiency, Entropion, Recurrent respiratory i...	ORPHA:36426
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Pontocerebellar Hypoplasia, Type 2A	Dystonia, Microcephaly, Optic atrophy, Opisthotonus, Abnormal cerebral white matter morphology, G...	OMIM:277470
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in...	OMIM:256600
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidias...	ORPHA:36913
Behçet Disease	Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Catar...	ORPHA:117
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Premature ovarian insufficiency, Leukoencephalopathy, Hand tremor, Lateral ve...	OMIM:615889
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege...	OMIM:615490
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul...	OMIM:607706
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Microcephaly, High palate, Gliosis, Hypoplasia of the corp...	OMIM:612936
Familial Cold Urticaria	Pruritus, Arthritis, Conjunctivitis, Hyperhidrosis	ORPHA:47045
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Acute pancreatitis, Telecanthus, Increased circulating lactate deh...	ORPHA:26791
Leukodystrophy, Hypomyelinating, 24	Peripheral axonal neuropathy, Cataract, Microcephaly, Cerebral atrophy, B lymphocytopenia, Leukod...	OMIM:619851
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:601098
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr...	ORPHA:2688
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Intention tr...	ORPHA:221139
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea...	ORPHA:35078
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Alopecia-Intellectual Disability Syndrome 4	Hypospadias, Microcephaly, Bilateral cryptorchidism, Hypoplasia of the corpus callosum, Erythrode...	OMIM:618840
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Cerebral calcification, Eczema, Decreased proportion of CD8-positive T cells, Increased circulati...	OMIM:617241
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, High, narrow palate, Synophrys, Vomiting, High palate, Otitis media, Leukodystroph...	OMIM:619475
Acrodermatitis Enteropathica	Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Malabsorption, Corne...	ORPHA:37
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ...	ORPHA:2591
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o...	OMIM:604213
Adult Krabbe Disease	Abnormal circulating enzyme concentration or activity, Urinary incontinence, Abnormal pyramidal t...	ORPHA:206448
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble...	OMIM:308800
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,...	ORPHA:33355
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce...	ORPHA:81
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Limb dystonia, Axial dystonia, Neuronal loss in basal ganglia, Neurofibrillary ta...	OMIM:601104
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Cataract, Esophageal stricture, Corneal scarring, Squamous ce...	OMIM:226600
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia, Myelodysplasia	OMIM:162830
Chronic Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Segmental peripheral demyelination/remyelination	ORPHA:2932
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Lymphoproliferative disorder, A...	OMIM:614470
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Skin rash, Protei...	ORPHA:761
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Folliculitis, Conjunctivitis, Blepharitis	OMIM:612843
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Trichinellosis	Skin rash, Facial palsy, Increased circulating IgE level, Central retinal artery occlusion, Aniso...	ORPHA:863
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperhidrosis, Increased circulating IgG leve...	ORPHA:99827
Leigh Syndrome	Optic atrophy, CNS demyelination, Gliosis, Dystonia, Focal substantia nigra T2 hyperintensity, Pt...	OMIM:256000
Crouzon Syndrome	Optic atrophy, Narrow palate, Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Cockayne Syndrome Type 2	Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis, Male hypogonadism, Patchy demyel...	ORPHA:90322
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Generalized dystonia, Urinary incontinence, Bowel incontinence, Corpus callos...	ORPHA:171629
Mucolipidosis Iv	Cerebellar atrophy, Corneal opacity, Achlorhydria, Cerebral dysmyelination, Microcephaly, Dysplas...	OMIM:252650
Poliomyelitis	Meningitis, Paralytic ileus, Vomiting, Dysphagia, Infectious encephalitis, Nausea, Myelitis	ORPHA:2912
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Bronchiectas...	ORPHA:662
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Torticollis, Microcephaly, Tremor, Cerebral atrophy, Titubation, Abnormal cer...	ORPHA:397946
Diaminopentanuria	Hyperlysinuria, Neurodegeneration, Cystinuria	OMIM:222350
Mevalonic Aciduria	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	OMIM:610377
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent viral infections, Periodontitis, Neutropenia, Myelodysplasia, Recurren...	ORPHA:486
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Null Syndrome	Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination	ORPHA:280234
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Xeroderma Pigmentosum, Variant Type	Entropion, Microcephaly, Keratitis, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis...	OMIM:278750
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir...	ORPHA:158048
Lamellar Ichthyosis	Recurrent respiratory infections, Renal insufficiency, Pruritus, Sepsis, Erythroderma, Chronic ot...	ORPHA:313
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C...	ORPHA:911
Even-Plus Syndrome	Recurrent urinary tract infections, Highly arched eyebrow, Dysplastic corpus callosum, Synophrys,...	OMIM:616854
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence, Microcephaly, Brain atrophy, Myelin outfoldings, Onion bulb formation	OMIM:615284
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Axonal loss, Gliosis, Hypotriglyceridemia, Lagophthalmos, Corneal scarring, Athetosis, Cerebellar...	ORPHA:404454
Monosomy 22	Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Microcephaly, Synophrys, Schwannoma, Hy...	ORPHA:96123
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Gastrointestinal dysmotility, Axonal degeneration, Delayed myelination, Neurode...	ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Microcephaly, Axonal degeneration,...	OMIM:616811
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ...	OMIM:605285
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:604563
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Hypoalbuminemia	OMIM:227090
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Intellectual Developmental Disorder, X-Linked 12	Microcephaly, Tremor, Cryptorchidism, Abnormal cerebral white matter morphology, Gliosis, Microph...	OMIM:300957
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Hypoalbuminemia, Malabsorption	ORPHA:1954
Whim Syndrome	Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Sepsis, Papilloma...	ORPHA:51636
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG...	OMIM:615816
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Diffuse cerebral atrophy, Dystonia, Microc...	ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Epicanthus, Hypergonadotropic hypogonadism, Tremor, Retrobulbar optic neuritis...	OMIM:619737
Cockayne Syndrome	Cerebral calcification, Urinary incontinence, Basal ganglia calcification, Retinal arteriolar con...	ORPHA:191
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leuk...	OMIM:607115
Holocarboxylase Synthetase Deficiency	Eczema, Hyperammonemia, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema	ORPHA:79242
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Xeroderma Pigmentosum, Complementation Group A	Entropion, Microcephaly, Keratitis, Choreoathetosis, Melanoma, Conjunctivitis, Squamous cell carc...	OMIM:278700
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum, Epicanthus, High palate, Conjunctival hyperemia	OMIM:619548
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Congenital Disorder Of Glycosylation, Type If	Microcephaly, Optic atrophy, Renal cortical cysts, Cerebral atrophy, Erythroderma	OMIM:609180
Multiple Sulfatase Deficiency	Cerebellar atrophy, Corneal opacity, Splenomegaly, Cerebral atrophy, Mucopolysacchariduria, CNS d...	OMIM:272200
Primary Non-Essential Cutis Verticis Gyrata	Microcephaly, Gliosis, Periventricular leukomalacia, Developmental cataract	ORPHA:357225
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
Machado-Joseph Disease	Cerebellar atrophy, Dystonia, Gliosis, Spinocerebellar tract degeneration, Dysphagia, Urinary bla...	OMIM:109150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Onion bulb formation, High palate, Facial palsy, Ptosis	OMIM:607684
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre...	OMIM:301078
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the kidney, Microcephaly, Precocious puberty, Developmental cataract, Recurrent in...	ORPHA:261652
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination	OMIM:162500
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Vomiting, Neutrophilia, Myelodysplasia, Leukocytosis, Chronic diarrhea, Chr...	ORPHA:3260
Alg12-Cdg	Sepsis, Abnormal peripheral nervous system morphology, Gastroesophageal reflux, Hypoalbuminemia, ...	ORPHA:79324
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Elevated hepatic transaminase, Epicanthus, Cerebral dysmyelination, Corpus ca...	OMIM:261515
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Onion bulb formation, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Tremor, ...	OMIM:218000
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Microcephaly, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Melano...	OMIM:278730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Bilateral fetal pyelectasis, Absent septum pellucidum, Seborrheic d...	OMIM:300868
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of co...	ORPHA:2273
Huntington Disease-Like 1	Cerebellar atrophy, Gliosis, Cerebral cortical atrophy, Abnormal basal ganglia morphology	ORPHA:157941
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Aciduria, Jaundice, Cer...	OMIM:203700
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Adult-Onset Still Disease	Elevated hepatic transaminase, Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reac...	ORPHA:829
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Tremor, High palate, Gliosis...	ORPHA:457240
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Oral-pharyngeal dysphagia	OMIM:616287
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Cerebral atrophy	OMIM:614116
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Diarr...	OMIM:260920
Cowden Syndrome 1	Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,...	OMIM:158350
Chikungunya	Maculopapular exanthema, Skin rash, Peripheral nerve compression, Erythema nodosum, Pruritus, Dia...	ORPHA:324625
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for...	OMIM:605588
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, ...	OMIM:614455
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Microcephaly, Retinal telangiectasia, Neoplasm, Neurodegeneration	ORPHA:438134
Bloom Syndrome	Recurrent herpes, Severe varicella zoster infection, Uveitis, Neoplasm, Gastroesophageal reflux, ...	ORPHA:125
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation	OMIM:618184
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration, Hypoplasia of the corpus callosum, Dystonia, Oromandibular dystonia, Motor axo...	OMIM:615643
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Atrophy of the spinal cord, Cryptorchidism, ...	ORPHA:49
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In...	OMIM:301000
Mucopolysaccharidosis-Plus Syndrome	Cerebral calcification, Synophrys, Sepsis, Leukopenia, Hypoalbuminemia, Neutropenia, Nephritis, D...	OMIM:617303
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal inflammat...	ORPHA:95455
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:464370
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Gonadal dysgenesis, Hypergonadotropic hyp...	OMIM:607080
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin...	ORPHA:44890
Congenital Ichthyosiform Erythroderma	Keratitis, Pruritus, Corneal erosion, Hypohidrosis, Erythroderma, Ectropion	ORPHA:79394
Tick-Borne Encephalitis	Elevated hepatic transaminase, Facial palsy, Elevated circulating C-reactive protein concentratio...	ORPHA:297
Generalized Eruptive Keratoacanthoma	Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectr...	ORPHA:411777
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato...	OMIM:619752
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Delayed CNS myelination, Candida esophagitis, Eosinophilic infi...	OMIM:618213
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Congenital Erythropoietic Porphyria	Anisocytosis, Increased stool urobilinogen concentration, Abnormal circulating porphyrin concentr...	ORPHA:79277
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Erythroderma	ORPHA:312
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Recurrent upper...	OMIM:615952
Immunodeficiency 66	Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis	OMIM:618847
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Hypertriglyceridemia, High palate, Primary microcephaly	OMIM:618010
Trigeminal Neuralgia	Cranial nerve compression, Neoplasm, Peripheral demyelination, CNS demyelination, Allodynia	ORPHA:221091
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Mildly elevated creatine kinase	OMIM:615376
Werner Syndrome	Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Acral lentiginous ...	ORPHA:902
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Diffuse cerebral atrophy, Ec...	ORPHA:83617
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Facial capillary hemangioma, Axial malrotation of the kidney, Vesicouretera...	OMIM:274000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Postural tremor, Seborrheic dermatitis, Microcephaly, Splenomegaly, Neuronal ...	OMIM:301072
Intellectual Developmental Disorder, Fra12A Type	Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Progressive Supranuclear Palsy	Dystonia, Tremor, Blepharospasm, Gliosis, Dysphagia, Neuronal loss in central nervous system, Cer...	ORPHA:683
Pneumocystosis	Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti...	ORPHA:723
Spinocerebellar Ataxia 25	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Urinary urgency, Abno...	OMIM:608703
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Sarcoma	ORPHA:66661
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ...	OMIM:618987
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Pneumonia, Cerebral edema	OMIM:608033
Tenorio Syndrome	Telecanthus, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis sicca, Enuresis, Gastroesoph...	OMIM:616260
Crouzon Syndrome	Keratitis, Optic atrophy, High palate, Conjunctivitis, Shallow orbits, Dysgerminoma	OMIM:123500
Peho Syndrome	Cerebellar atrophy, Epicanthus, Pachygyria, Optic atrophy, Hypoplasia of the corpus callosum, Per...	OMIM:260565
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Genital ulcers, Splenomegaly, Chronic diarrhea, I...	OMIM:602450
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Basal cell carcinoma, Melanoma, Conjunctivitis, Squamous cell carcinoma of ...	OMIM:278740
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo...	ORPHA:2796
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Hyperhidrosis, Gliosis, Chondroitin sulfate excretion in urine, Delaye...	OMIM:615273
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Tremor, High pa...	ORPHA:506358
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Recurrent skin infections, Phimosis, Esophageal stricture, A...	ORPHA:2908
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Myocarditis, Diarrhea, Leukocytosis, Meningitis, Hepatitis,...	ORPHA:2331
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis, CNS demyelination, Fat malabsorption, Peripheral demyelination	OMIM:200100
Chromomycosis	Keratitis, Pruritus, Squamous cell carcinoma, Recurrent bacterial infections, Keratoconjunctiviti...	ORPHA:182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,...	OMIM:618394
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Microcephaly, Partial agenesis of the corpus callosum, Optic atroph...	OMIM:234050
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Basal cell carcinoma, Conjunctivitis, Squamous cell carcinoma of the skin, ...	OMIM:278720
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hypospadias, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon, Cleft pa...	OMIM:106260
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent pneumonia, Decreased proportion of CD4-positive helper...	OMIM:615518
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytop...	ORPHA:293978
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum,...	OMIM:619423
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	ORPHA:79443
Plasminogen Deficiency, Type I	Duodenal ulcer, Decreased level of plasminogen, Recurrent upper respiratory tract infections, Nep...	OMIM:217090
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Develo...	OMIM:231680
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Angiostrongyliasis	Projectile vomiting, Increased circulating IgA level, Pruritus, Hypereosinophilia, Unusual CNS in...	ORPHA:74
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Seborrheic dermatitis, Uveitis, Secondary amenorrhe...	ORPHA:488618
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph...	OMIM:619472
Harlequin Ichthyosis	Ectropion, Recurrent respiratory infections, Cataract, Erythroderma	ORPHA:457
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Microcephaly, D...	OMIM:619955
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Recurrent bacter...	OMIM:202700
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Epicanthus, Highly arched eyebrow, Dysplastic corpus callosum, Fetal pyelectasis, Cerebral atroph...	OMIM:616900
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Nephrolithia...	OMIM:617321
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n...	ORPHA:83469
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Bilateral cryptorchidism, Hyperhidrosis, Rib exostoses, Vomiting, Gastroesopha...	OMIM:150230
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae	ORPHA:302
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous a...	ORPHA:398063
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral white matter atrophy, Urinary incontinence, Delayed peripheral myelination, Microcephaly...	ORPHA:464282
Lichen Planus Pemphigoides	Pruritus, Conjunctivitis, Blepharitis	ORPHA:254478
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar...	ORPHA:544482
Clouston Syndrome	Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis	OMIM:129500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor...	OMIM:148210
Complement Component 4B Deficiency	Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o...	OMIM:614379
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Increase...	ORPHA:168563
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Cerebellar atrophy, Delayed CNS myelination, Cataract, Elevated hepatic transam...	OMIM:124000
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Pemphigus Foliaceus	Psoriasiform dermatitis, Hematological neoplasm, Pustule, Pruritus, Crusting erythematous dermati...	ORPHA:79481
Glutaric Acidemia I	Ketonuria, Glutaric aciduria, Delayed myelination, Opisthotonus, Choreoathetosis, Symmetrical pro...	OMIM:231670
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Abnormality of neutrophils, Retrobulbar op...	ORPHA:1451
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Sepsis In Premature Infants	Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,...	ORPHA:90051
Mucopolysaccharidosis, Type Ii	Papilledema, Decreased iduronate sulfatase level, Intestinal pseudo-obstruction, Heparan sulfate ...	OMIM:309900
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Abnormal pupil morphology, Elevated circulating creatine kinase con...	ORPHA:101082
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Onion bulb formation, Peripheral hypomyelination	OMIM:611228
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal eyelid morphology, Anorectal anomaly, Gastroesophageal reflux,...	ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Recurrent urinary tract infections, Hypospadias, Microcephaly, Almond-shaped ...	OMIM:619103
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Renal salt wasting, Renal magnesium wasting, En...	ORPHA:199343
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Urinary urgency, Gliosis, Dysphagia, Lewy bodies, Global brain atrophy	OMIM:168601
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,...	OMIM:615468
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Irregular myelin loops, Facial palsy	OMIM:601382
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-...	OMIM:619774
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus cal...	ORPHA:2524
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	ORPHA:79444
Vici Syndrome	Schizencephaly, Elevated circulating creatine kinase concentration, Recurrent viral infections, L...	OMIM:242840
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Conjunctivitis, Gastroesophageal reflux, Chronic otitis media, Sparse m...	OMIM:616268
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Vomiting, Iritis, Nausea, Papilled...	ORPHA:3385
Combined Immunodeficiency Due To Crac Channel Dysfunction	Anhidrosis, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent myco...	ORPHA:169090
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, S...	ORPHA:91138
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media	OMIM:608710
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Microcytic anemia, Abnormal isohemagglutinin level, Chronic lymphocytic men...	ORPHA:99843
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A...	OMIM:246400
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of...	OMIM:120330
Ichthyosis With Confetti	Pruritus, Ectropion, Erythroderma	OMIM:609165
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin...	ORPHA:542323
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs o...	ORPHA:171680
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu...	ORPHA:39812
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Cataract, Osteomyelitis, Decreased number of large peripheral myelinated nerv...	OMIM:162400
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Odynophagia, Uveitis, Bloody diarrhea, Leukop...	ORPHA:99826
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia, Opisthot...	OMIM:210210
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Proteinuria, Decreased glomerular filt...	ORPHA:488627
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Sparse eyebrow, Microcornea, High palate, Erythroderma, Downslanted p...	ORPHA:35173
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Recurrent infections, Ly...	OMIM:258360
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Intestinal edema, Diarrhea, Axonal degeneration, Vomiting	OMIM:106100
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Cavitation of the basal ganglia, Writer's cramp, Tremor, Blepharospasm, Choreoathetosis...	OMIM:606159
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology, Squamous c...	ORPHA:542592
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Nephropathy, Achalasia, Abnormality of t...	ORPHA:1018
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Bathing Suit Ichthyosis	Hypohidrosis, Ectropion, Erythroderma	ORPHA:100976
Mucoepithelial Dysplasia, Hereditary	Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous c...	OMIM:158310
Primary Intestinal Lymphangiectasia	Lymphopenia, Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Cryp...	ORPHA:90362
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
Gardner Syndrome	Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Dysphagia, Dystonia, Onion bulb formation, Ptosis	OMIM:614487
Adrenoleukodystrophy	Urinary incontinence, Bowel incontinence, Primary adrenal insufficiency, Abnormal cerebral white ...	OMIM:300100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Renal a...	OMIM:615688
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Peripheral axonal degeneration, Resting tremor, Dystonia, Tremor, Cerebral at...	OMIM:615157
Pelizaeus-Merzbacher Disease, Connatal Form	Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Titubation, Gliosis, Abnorm...	ORPHA:280210
Ichthyosis, Congenital, Autosomal Recessive 1	Ectropion, Erythroderma	OMIM:242300
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-choleste...	OMIM:302960
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:601455
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Enl...	ORPHA:79078
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abnormality of the...	ORPHA:228123
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Cataract, Severe B lymphocytopenia,...	OMIM:620005
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia, Seborrheic dermatitis	OMIM:121270
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Dystonia, Highly arched eyebrow, Microcephaly, Tremor, Partial agenesis o...	OMIM:220111
Infant Botulism	Hyponatremia, Ptosis, Bowel incontinence, Xerostomia, Keratoconjunctivitis sicca, Constipation, D...	ORPHA:178478
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Hypoalbuminemia	OMIM:614441
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating enzyme concentration ...	ORPHA:95159
Aicardi-Goutières Syndrome	Myositis, Cerebral calcification, Tremor, Porencephalic cyst, Increased circulating interferon-ga...	ORPHA:51
Complement Component 5 Deficiency	Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz...	OMIM:609536
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Cataract, Renal insufficiency, Chondritis of pinna, P...	ORPHA:728
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis	OMIM:615527
Erythermalgia, Primary	Pruritus, Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation	OMIM:133020
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Spastic/hyperactive bladder, Chronic constipation, Gliosis, Dysphagia, ...	ORPHA:411602
Recon Progeroid Syndrome	Microcephaly, Thrombocytopenia, Red eye, Absent lower eyelashes, Recurrent infections, Keratoconj...	OMIM:620370
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Decreased response to growth hormone stimulation test, Hyperphosphatemia, C...	ORPHA:94089
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody leve...	ORPHA:100024
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Eczema, Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections,...	ORPHA:508542
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Abnormal renal tubule morphology, Eczema, Abnormal pre...	ORPHA:2907
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl...	ORPHA:268261
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Gorham-Stout Disease	Torticollis, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Hemangiomatosis, Spinal...	ORPHA:73
Neurofibromatosis Type 1	Astrocytoma, Abnormal eyelid morphology, Multiple lipomas, Neoplasm, Pheochromocytoma, Neoplasm o...	ORPHA:636
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo...	ORPHA:314478
Kanzaki Disease	Peripheral axonal neuropathy, Increased urinary O-linked sialopeptides, Axonal degeneration, Cere...	OMIM:609242
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Pre...	OMIM:616878
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Dystonia, Segmental peripheral demyelination/remyelination, Abnormalit...	ORPHA:255210
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio...	OMIM:256850
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Acute Lung Injury	Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul...	ORPHA:178320
Terminal Osseous Dysplasia	Epicanthus, Telecanthus, Cleft palate, Upslanted palpebral fissure, Fibroma, Iris coloboma, Ptosis	OMIM:300244
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lewy bodies, Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Neuronal loss in cen...	OMIM:607485
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hemolytic anemia, Splenomegaly, Jaundice, Loss of eyelashes, Red urine, Corneal s...	OMIM:263700
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Diarrhea, Enthesitis, A...	ORPHA:29207
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Ichthyosis, Congenital, Autosomal Recessive 9	Hypohidrosis, Ectropion, Erythroderma	OMIM:615023
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Acanthoc...	ORPHA:14
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Elevated circul...	OMIM:614298
Aicardi Syndrome	Partial agenesis of the corpus callosum, Hepatoblastoma, Cavum septum pellucidum, Pachygyria, Del...	OMIM:304050
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo...	ORPHA:797
Agel Amyloidosis	Tongue atrophy, Cataract, Proteinuria, Facial palsy, Pruritus, Bilateral ptosis, Xerostomia, Stag...	ORPHA:85448
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Prominent eyela...	OMIM:619179
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Polycyth...	OMIM:606812
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect...	OMIM:242700
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Chronic Granulomatous Disease	Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, M...	ORPHA:379
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Multicystic kidney dysplasia, Hypospadias, Absent eyelashes, Cryptorchidism, Hydr...	OMIM:308205
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis, Conjunctivitis	OMIM:610455
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Neurofibrillary ...	OMIM:609454
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Hematological neoplasm, Decreased proportion of CD8-positive T cel...	ORPHA:217260
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607831
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Elevated circulating aspartate aminotransferase concentration, Elevated ...	OMIM:614924
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Myelodysplasia, Leukocytosis, Increase...	ORPHA:98849
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Cerebral atrophy, Neurodegeneration, Dystonia, Cherry red spot of t...	ORPHA:309246
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Leukocoria, Red eye, Cleft palate, Uveitis, Leiomyosarcoma, P...	ORPHA:790
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Oral-pharyn...	ORPHA:254930
Ichthyosis, Congenital, Autosomal Recessive 6	Hypohidrosis, Ectropion, Erythroderma	OMIM:612281
Leukodystrophy, Hypomyelinating, 5	Cerebral white matter atrophy, Truncal titubation, CNS hypomyelination, Developmental cataract, L...	OMIM:610532
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Pruritus, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sparse eyelashes, Recurrent ear infections, Absent eyelashes, Bilateral ptosis, S...	ORPHA:544488
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Dysplastic corpus callosum, Hypospadias, Anemia	OMIM:620135
Milroy Disease	Epicanthus, Angiosarcoma, Hydrocele testis, Neoplasm of the skin, Erysipelas	ORPHA:79452
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Vomiting, Gliosis, Cerebral edema	ORPHA:88619
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Chronic axonal neuropathy, Polyuria, Renal salt wasting, Enuresis, Hypokalemi...	OMIM:612780
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Limb dystonia, Laryngeal dys...	ORPHA:2388
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Eczema, Seborrheic dermatitis, High, narrow palate, Macroglossia, Enuresis, Astigmati...	ORPHA:369950
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Decreased response to growth hormone stimulation test, Central adrenal insufficiency, K...	OMIM:616007
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Tuberous Sclerosis 2	Astrocytoma, Cerebral calcification, Angiofibromas, Subependymal giant-cell astrocytoma, Renal cy...	OMIM:613254
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Severe viral infection, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid...	ORPHA:79128
Bohring-Opitz Syndrome	Bilateral cleft palate, Epicanthus, Intestinal malrotation, Delayed peripheral myelination, Micro...	OMIM:605039
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Recurrent pneumonia...	OMIM:617718
Digeorge Syndrome	Impaired T cell function, Sclerocornea, High, narrow palate, High palate, Gastroesophageal reflux...	OMIM:188400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Delayed CNS myelination, Splenomegaly, Schistocytosis, Cerebral atrophy, De...	OMIM:616084
Cockayne Syndrome A	Cerebellar atrophy, Anhidrosis, Renal insufficiency, Cataract, Proteinuria, Abnormal peripheral m...	OMIM:216400
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Cockayne Syndrome B	Anhidrosis, Renal insufficiency, Proteinuria, Abnormal peripheral myelination, Microcephaly, Trem...	OMIM:133540
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl...	ORPHA:70578
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca	OMIM:619016
Hurler Syndrome	Recurrent respiratory infections, Corneal opacity, Heparan sulfate excretion in urine, Bilateral ...	OMIM:607014
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microc...	ORPHA:1806
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha...	OMIM:614833
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Renal cyst, Lacrimal duct stenosis	OMIM:615560
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Acute hepatic failure, Dystonia, Elevated...	OMIM:256810
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Postural tremor, Head titubation, Optic atrophy, Cerebral atrophy, Neurodegen...	OMIM:615491
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper re...	OMIM:253220
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Xerostomia, Hypohidrosis, Nephrotic syndrome, Keratoconjunctivitis sicca, Infl...	ORPHA:238468
Adult Syndrome	Conjunctivitis, Eczema, Nasolacrimal duct obstruction	OMIM:103285
Charcot-Marie-Tooth Disease Type 4A	Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy...	ORPHA:99948
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large int...	OMIM:620133
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Peripheral axonal neuropathy, Sparse eyebrow, Dysplastic corpus callosum, Developmental cataract,...	OMIM:618810
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Hyperhidrosis, Arthritis, High palate, Eczematoid dermatitis, Ptosis	OMIM:259100
Limb-Mammary Syndrome	Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha...	ORPHA:94059
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Tremor, Cerebral atrophy, Neurodegeneration, Eye of the tiger anomaly of glob...	OMIM:300894
Progeroid Short Stature With Pigmented Nevi	Cataract, Premature ovarian insufficiency, Allergic rhinitis, Impaired T cell function, Hypospadi...	OMIM:176690
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Cerebral calcification, Optic atrophy, Neurodegeneration, Long eyelashes, Hypocalcemi...	OMIM:618476
Dyskeratosis Congenita	Cerebral calcification, Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Neoplasm, P...	ORPHA:1775
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis...	OMIM:175100
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, High palate, Dysphagia, Downs...	OMIM:620001
Oculoskeletodental Syndrome	Epicanthus, Hypercalcemia, Dysplastic corpus callosum, Developmental cataract, Nephrocalcinosis, ...	ORPHA:557003
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Liposarcoma	Abnormality of the kidney, Sarcoma	ORPHA:69078
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sev...	ORPHA:36238
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Malabsorp...	ORPHA:77297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Lacticaciduria, Aminoac...	OMIM:604273
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Eczema, Absent eyelashes, Cleft palate, Conjunctival hyperemia	ORPHA:2890
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c...	ORPHA:99829
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Epicanthus, Premature ovarian insufficiency, Hypospadias, Abnormality of the kidney, Endometriosi...	ORPHA:363444
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Elevated urinary prostaglandin E2...	OMIM:167100
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Histiocytoma, Presenile catara...	OMIM:112250
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, High, narrow palate, Dural ectasia, Keratoconjunctivitis sicca, High palate, Down...	OMIM:616914
White-Kernohan Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Hydroureter, Dysplastic corpus callosum, Synophrys, Broad...	OMIM:619426
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dystonia, Corneal opacity, Dysplastic corpus callosum, Athetosis, Abnormal...	ORPHA:357058
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Bleph...	ORPHA:2045
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Lymphedema-Distichiasis Syndrome	Ectropion, Cleft palate, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Corneal ulcera...	OMIM:153400
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Microcephaly, Decreased LDL cho...	OMIM:616834
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr...	ORPHA:276152
Neuromuscular Oculoauditory Syndrome	Epicanthus, Elevated circulating creatine kinase concentration, Peripheral hypomyelination, Multi...	OMIM:618733
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased number of large peripheral myelinated nerve fibers, Hypermyelinated retinal nerve fiber...	OMIM:270550
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Microcephaly, Abnormal eyelash morpho...	ORPHA:2399
Familial Mediterranean Fever	Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Nephropath...	ORPHA:342
Hyperparathyroidism-Jaw Tumor Syndrome	Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic adenocarcinoma, Renal hamartoma, Uter...	ORPHA:99880
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis	OMIM:200400
Meige Disease	Angiosarcoma, Recurrent bacterial skin infections, Recurrent skin infections	ORPHA:90186
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia, Neurodegeneration	ORPHA:803
Parathyroid Carcinoma	Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic adenocarcinoma, Renal hamartoma, Uter...	ORPHA:143
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Skin rash, Palpebral ed...	ORPHA:50918
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Abnormal circulating enzyme concentration or activity, Microcephaly, Arm dys...	ORPHA:79244
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Episodic hyperhidrosis, Diarrhea, R...	OMIM:223900
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Cerebral cortex with spongiform changes, Gliosis	OMIM:606688
Ameloonychohypohidrotic Syndrome	Hypohidrosis, Seborrheic dermatitis	OMIM:104570
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Follicular Lymphoma	Splenomegaly, Lymphoma, Meningitis	ORPHA:545
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, Hypertriglyceridemia, Bilateral ptosis, Cryptorchidism, Narrow palate, Keratoconjunct...	ORPHA:536532
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Tremor, Splenomegaly, Diarrhea, Low alkaline phosphatase, Recurrent can...	OMIM:201100
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Paroxysmal Hemicrania	Conjunctival hyperemia, Rhinitis, Palpebral edema, Ptosis	ORPHA:157835
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Microcephaly, Sparse eyebrow, Cryptorchidism, Sy...	ORPHA:495875
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Abnormal renal morphology, Chronic consti...	ORPHA:477817
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein concentration, Ab...	OMIM:612852
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Microcephaly, Perisylvian polymicrogyria, Facial diplegia, Hypoplasia of t...	OMIM:619121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tremor, Synophrys, Hypertrophy of the urinary bladder, High palate, Gastroesophageal reflux, Recu...	ORPHA:280633
Lacrimoauriculodentodigital Syndrome	Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Bifid uvula, Increased cor...	ORPHA:2363
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Decreased circul...	ORPHA:500150
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebral calcification, Microcephaly, Basal ganglia calcification, ...	OMIM:617281
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic ...	ORPHA:95512
Leptospirosis	Papilledema, Pericarditis, Skin rash, Cellular urinary casts, Diarrhea, Jaundice, Hepatitis, Uvei...	ORPHA:509
Xeroderma Pigmentosum	Conjunctival telangiectasia, Decreased testicular size, Cataract, Entropion, Microcephaly, Kerati...	ORPHA:910
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Xerostomia, Abnormality of the orbital region, Hypohidrosis, Keratocon...	ORPHA:43393
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic ...	ORPHA:95513
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian serous cystade...	ORPHA:276280
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infection...	ORPHA:66628
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Dystonia, Urinary incontinence, Acanthocytosis, Tremor, Optic atrophy, Blepharosp...	OMIM:234200
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Anhidrosis, Urinary incontinence, Tremor, Hypohidrosis, Urinary urgency, Impotence,...	OMIM:146500
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Villous atrophy, Portal hypertension, Conjugated hyperbilirubinemi...	ORPHA:567983
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia	OMIM:272750
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Meningitis, Recurrent pharyngitis, Optic atrophy, Hyperhidrosi...	ORPHA:397
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification...	OMIM:256800
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infection...	ORPHA:179494
Sunct Syndrome	Palpebral edema, Episodic hyperhidrosis, Hyperhidrosis, Vomiting, Conjunctival hyperemia, Nausea,...	ORPHA:57145
Kapur-Toriello Syndrome	Hypoplasia of penis, Intestinal malrotation, Dysplastic corpus callosum, Polymicrogyria, Hypoplas...	ORPHA:2328
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv...	ORPHA:85436
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Micropenis, Agenesis of corpus callosum, Streak ovary, Hypospadias, Absent septum ...	OMIM:618820
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Episodic hyperhidrosis, Gastroesophageal ...	OMIM:201300
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Dystonia, Neurofibrillary tangles, Optic atrophy, Cerebral atrophy, Neurodege...	OMIM:610217
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine panc...	ORPHA:309031
Cutis Laxa, Autosomal Recessive, Type Iid	Cataract, Entropion, Bilateral cryptorchidism, Gliosis, Hypoplasia of the corpus callosum, Blepha...	OMIM:617403
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Cerebrofacioarticular Syndrome	Anal stenosis, Epicanthus, Hypospadias, Microcephaly, Dysplastic corpus callosum, Renal hypoplasi...	ORPHA:314679
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Gliosis, Dystonia	OMIM:618222
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Diarrhea, Interstitial pneumonitis, Vomiting, Gra...	ORPHA:454831
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Lenz-Majewski Hyperostotic Dwarfism	Lacrimal duct stenosis, Hypospadias, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Cl...	OMIM:151050
Plague	Glossitis, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Diarrhea, Spleno...	ORPHA:707
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentra...	ORPHA:79099
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Calcification of falx cerebri...	OMIM:620343
Tuberous Sclerosis Complex	Angiofibromas, Pancreatic endocrine tumor, Cortical dysplasia, Subependymal giant-cell astrocytom...	ORPHA:805
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Optic neuropathy, Iridocyclitis, Splenomegaly, En...	OMIM:181000
Acute Transverse Myelitis	Invasive parasitic infection, Decreased circulating copper concentration, Gastroparesis, Abscess,...	ORPHA:139417
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Tongue atrophy, Optic...	ORPHA:99949
Diets-Jongmans Syndrome	Hypospadias, Cryptorchidism, Thick corpus callosum, Gliosis, Duodenal atresia	OMIM:618846
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho...	ORPHA:263665
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Renal a...	OMIM:149730
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Cerebellar atrophy, Microcephaly, Neurodegeneration, Dysphagia	OMIM:615919
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Sinusitis, Renal hypoplasia/aplasia, Schwannoma, Abnormal renal morphology, Ossifying...	ORPHA:363700
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Focal white matter lesions, Hypoplasia of the corpus callosum, O...	ORPHA:320375
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Microcephaly, Synophrys, Keratoconjunctivitis sicca, Long eyelashes, ...	OMIM:618479
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Blepharophimosis, Microcephaly, Cryptorchidism, Vel...	OMIM:192430
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Delayed peripheral myelination, Facial capillary hemangioma, Microc...	ORPHA:364577
Eec Syndrome	Entropion, Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/a...	ORPHA:1896
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse,...	ORPHA:904
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Autosomal Dominant Spastic Paraplegia Type 42	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171863
Hereditary Sensory And Autonomic Neuropathy Type 5	Anhidrosis, Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Abnormality of T cell physiology, Psoriasiform dermatitis, R...	ORPHA:2237
Zttk Syndrome	Epicanthus, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Dysplastic corpus callosum, Chro...	OMIM:617140
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Tremor, Neuromuscular dysphagia, Blepharospasm, Dystonia, Conjunctival hyperemia	ORPHA:240071
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of the skin, Elev...	ORPHA:565612
Arachnoiditis	Anhidrosis, Urinary bladder sphincter dysfunction, Meningitis	ORPHA:137817
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Cortical dysplasia, A...	OMIM:613406
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Tethered cord, Sacral lipoma, Rectal abscess, Constipation, Hyd...	OMIM:600145
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hypothyr...	OMIM:618569
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal...	ORPHA:30
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Retinoblastoma	Lymphoma, Leukocoria, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Malabsorption, Abnormality of the menstrual cycle, Osteoarthritis, Gastr...	ORPHA:285
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Abnormal urinary color, Jaundice	ORPHA:234
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Cataract, Tremor, Optic atrophy, Myelin outfoldings, Ptosis	ORPHA:99956
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Trans...	OMIM:129900
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrosis, Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, ...	OMIM:612132
Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast...	OMIM:258900
Juvenile Xanthogranuloma	Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Trans...	OMIM:604292
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Pituitary Dermoid And Epidermoid Cysts	Neoplasm of the anterior pituitary, Meningitis, Oligozoospermia, Hypogonadism, Oligomenorrhea, Hy...	ORPHA:91351
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Epicanthus, Bilateral cryptorchidism, High, narrow palate, Cryptorchidism, Dysplastic corpus call...	ORPHA:466791
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Tremor, High, narrow palate, Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum, U...	OMIM:300967
Hydranencephaly	Optic nerve hypoplasia, Opisthotonus, Primary microcephaly, Meningitis, Cerebral cortical atrophy...	ORPHA:2177
Primrose Syndrome	Epicanthus, Cerebral calcification, Hypergonadotropic hypogonadism, Elevated circulating alpha-fe...	OMIM:259050
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Huppke-Brendel Syndrome	Cerebellar atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulating copp...	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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