Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Hashimoto Thyroiditis |
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Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 18 |
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Defective T cell proliferation |
OMIM:615615 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Systemic Lupus Erythematosus 16 |
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Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decrease... |
OMIM:614170 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Corneal Dystrophy, Congenital Stromal |
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Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Complement Component C1S Deficiency |
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Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Immunodeficiency 11A |
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Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... |
ORPHA:208441 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Brittle Cornea Syndrome 1 |
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Keratoconus, Congenital hip dislocation, Atypical scarring of skin, Keratoglobus, Disproportionat... |
OMIM:229200 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Keratoconus 9 |
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Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Cornea Plana 2, Autosomal Recessive |
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Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Complement Component 2 Deficiency |
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Systemic lupus erythematosus |
OMIM:217000 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Secondary Non-Traumatic Avascular Necrosis |
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Autoimmunity, Hematological neoplasm, Systemic lupus erythematosus, Neoplasm, Rheumatoid arthritis |
ORPHA:399180 |
Acquired Ichthyosis |
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Autoimmunity, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma |
ORPHA:454 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Linear Iga Dermatosis |
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Renal neoplasm, Autoimmunity, Bladder neoplasm |
ORPHA:46488 |
Brittle Cornea Syndrome |
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Hallux valgus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus... |
ORPHA:90354 |
Immunodeficiency 66 |
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Defective T cell proliferation |
OMIM:618847 |
Microtriplication 11Q24.1 |
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Keratoconus, Metatarsus adductus, Small hand, Obesity, Genu valgum, Short foot, Talipes equinovar... |
ORPHA:289522 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Multiple lineage myelodysplasia, Autoimmunity, Myelodysplasia |
ORPHA:98827 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Leber Congenital Amaurosis 7 |
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Keratoconus, Cataract |
OMIM:613829 |
Keratoconus 6 |
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Keratoconus |
OMIM:614623 |
Keratoconus 5 |
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Keratoconus |
OMIM:614622 |
Keratoconus 8 |
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Keratoconus |
OMIM:614628 |
Keratoconus 7 |
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Keratoconus |
OMIM:614629 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Waddling gait, R... |
OMIM:300106 |
Eosinophilopenia |
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Autoimmunity |
OMIM:131430 |
Leber Congenital Amaurosis 2 |
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Keratoconus, Cataract, Eye poking |
OMIM:204100 |
Keratoconus Posticus Circumscriptus |
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Clinodactyly of the 5th finger, Keratoconus, Central posterior corneal opacity, Brachydactyly |
OMIM:244600 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract |
OMIM:613826 |
Arthrogryposis, Distal, Type 5 |
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Keratoconus, Arachnodactyly, Absent phalangeal crease, Keratoglobus, Distal arthrogryposis, Bilat... |
OMIM:108145 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Retinitis Pigmentosa |
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Atypical scarring of skin, Keratoconus, Cataract, Obesity |
ORPHA:791 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
Immunodeficiency, Common Variable, 2 |
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Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Leber Congenital Amaurosis 1 |
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Keratoconus, Cataract, Eye poking |
OMIM:204000 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract, Eye poking |
OMIM:613835 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Dermatitis, Atopic |
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Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Overlapping toe, Broad hallux, Genu valgum, Decreased corneal thickness, Contracture of the proxi... |
ORPHA:293967 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... |
OMIM:602111 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Leber Congenital Amaurosis 4 |
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Keratoconus |
OMIM:604393 |
Edict Syndrome |
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Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Angelman Syndrome |
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Keratoconus, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Ton... |
ORPHA:72 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... |
ORPHA:100924 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Autoimmunity, Multiple myeloma, Systemic lupus erythematosus |
ORPHA:48377 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Tapered finger, Repetitive compulsive behavior, Compulsive behaviors, Attention defi... |
ORPHA:401777 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Glenoid fossa hypoplasia, Patellar aplasia, Hypoplastic radial head, Patel... |
OMIM:161200 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Eye poking, Macular scar |
OMIM:608553 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Lymphoma, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Long fibula, Abnormal metaphysis morphology, Cognitive impairment |
ORPHA:935 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Increased corneal thickness, Abnormal dental ename... |
ORPHA:2363 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Ataxia, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular... |
OMIM:610442 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, Systemic lupus erythemat... |
ORPHA:90033 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Abnormal pupil morphology, Clinodactyly o... |
ORPHA:52 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Inguinal hernia, Femoral hernia, Arachnodactyly, Rocker bottom foot, Hiatus hernia, ... |
ORPHA:3342 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the pha... |
OMIM:618175 |
Costello Syndrome |
|
Keratoconus, Failure to thrive in infancy, Abnormal dental enamel morphology, Ulnar deviation of ... |
ORPHA:3071 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Gapo Syndrome |
|
Keratoconus, Umbilical hernia, Abnormal pelvic girdle bone morphology, Abnormal metaphysis morpho... |
ORPHA:2067 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Failure to thrive, Conjunctivitis |
OMIM:242150 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Fle... |
OMIM:208050 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... |
ORPHA:572 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Mi... |
OMIM:225400 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Broad hallux, Impulsivity, Aggressive behavior, Avascular necrosis of th... |
ORPHA:353281 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... |
OMIM:613179 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Broad hallux, Ob... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Broad hallux, Ob... |
ORPHA:353277 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
Gapo Syndrome |
|
Keratoconus, Umbilical hernia, Megalocornea, Shallow anterior chamber |
OMIM:230740 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Inguinal hernia, Genital hernia, Cystocele, Hip dislocation, Depression, Atypical sc... |
ORPHA:285 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Wiskott-Aldrich Syndrome |
|
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ... |
OMIM:242840 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Inguinal hernia, Cigarette-paper scars, Cystocele, Foot acroosteolysis, Osteolytic d... |
OMIM:130050 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Inguinal hernia, Congenital hip dislocation, Abnormal pupil morphology, Cigarette-pa... |
ORPHA:286 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |