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