| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
| 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 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... |
OMIM:613495 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... |
OMIM:613494 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Congenital hip dislocation, Leukocytosis, Multicentric femoral head ossification, Delayed femoral... |
ORPHA:168621 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... |
OMIM:613493 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... |
OMIM:300636 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... |
ORPHA:319552 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... |
OMIM:613501 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Arthritis |
ORPHA:2582 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy, Abnormal oral glucose tolerance |
OMIM:311100 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... |
OMIM:616873 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Arthropathy, Eosinophilia, Clubbing, Craniosynostosis, Hip disloca... |
OMIM:618523 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy |
OMIM:609055 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
| Cinca Syndrome |
|
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Arthritis, Anemia |
OMIM:607115 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... |
OMIM:620449 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Claw hand deformity, Hammertoe |
OMIM:618511 |
| Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Hip contracture, Eosinophilia, Broad femoral... |
ORPHA:353298 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio |
OMIM:616941 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Histiocytosis, Skin rash |
ORPHA:157997 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Type II diabetes mellitus, Optic disc pallor, Diabetes mellitus, Impaired glucose ... |
OMIM:614296 |
| Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... |
OMIM:618889 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:607594 |
| Roifman Syndrome |
|
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Eosinophilia, Short digit,... |
OMIM:616651 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... |
ORPHA:275 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... |
ORPHA:98813 |
| Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Optic Atrophy 9 |
|
Optic atrophy, Optic disc pallor |
OMIM:616289 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections |
ORPHA:169079 |
| Sclerosteosis |
|
Optic atrophy, Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand,... |
ORPHA:3152 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Short distal phalanx of finger, Wormian bones, Brachydactyly, Osteoporosis |
ORPHA:2787 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
| Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... |
OMIM:613496 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... |
ORPHA:486 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg... |
OMIM:300291 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat... |
OMIM:618944 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology, Arthritis |
ORPHA:3165 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Osteoporosis, Eosinophilia |
OMIM:620532 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Recurrent viral infections, Partial absence of specific antibody... |
OMIM:620632 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Eosinophilia, Nar... |
OMIM:617425 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... |
ORPHA:276 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Facial palsy |
OMIM:253600 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive ... |
OMIM:304790 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe |
ORPHA:320396 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Wormian bones, Eosinophilia, I... |
OMIM:617237 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski... |
OMIM:603552 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
| Omenn Syndrome |
|
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia, Abno... |
ORPHA:39041 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Polyarticular arthritis, Hepatosplenomegaly, Autoimmune hemolytic anemi... |
OMIM:615952 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g... |
OMIM:308230 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... |
OMIM:607676 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... |
ORPHA:572 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections |
OMIM:619693 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Vasculitis, Decreased circulating IgG level, Abnormal T cell count, Aplastic ane... |
OMIM:308240 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Increased circul... |
OMIM:243700 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl... |
OMIM:209950 |
| Retinitis Pigmentosa 71 |
|
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... |
OMIM:616394 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Short distal phalanx of finger, Joint dislocation, Abnormal epiphysis morphology, ... |
ORPHA:53 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... |
OMIM:245480 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating cytokine concentr... |
ORPHA:178320 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Proximal femoral metaphyseal irregularity, Splenomegaly, Retinal degeneration, Con... |
OMIM:602271 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Optic atrophy |
ORPHA:2773 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
| Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
| Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial... |
OMIM:122860 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Facial palsy, Optic atrophy, Increased bone mineral density |
ORPHA:178377 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... |
ORPHA:83471 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Optic disc... |
OMIM:611490 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia |
OMIM:608898 |
| Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Posta... |
OMIM:614500 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... |
OMIM:274000 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
| Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
| Craniodiaphyseal Dysplasia |
|
Optic atrophy, Craniofacial hyperostosis, Diaphyseal undertubulation |
ORPHA:1513 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Abnormal autonomic n... |
OMIM:598500 |
| Aspergillosis |
|
Eosinophilia, Abnormal long bone morphology, Neutropenia, Vitritis |
ORPHA:1163 |
| Immunodeficiency 12 |
|
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... |
OMIM:615468 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology |
ORPHA:3151 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine... |
OMIM:239100 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Recu... |
OMIM:618048 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... |
ORPHA:183675 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... |
OMIM:307200 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Cranial... |
OMIM:259710 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... |
OMIM:607616 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... |
OMIM:175700 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy, Vacuolated lymphoc... |
OMIM:204200 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Polyarticular arthritis |
OMIM:617388 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Optic atrophy, Decreased proportion of CD4-positive T cells, Metopic synostosis |
ORPHA:477814 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Hyperglycemia, Attenuation of retinal blood vessels, Retinal degenera... |
OMIM:615986 |
| Selective Igm Deficiency |
|
Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot... |
ORPHA:331235 |
| Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
| Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Abnormal pelvic girdle bone morphology, Growth arrest lines, Lymphopenia, Autoimmune hemolytic an... |
OMIM:102700 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration |
OMIM:520000 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:540 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:618858 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Eosinophilia, Ortho... |
ORPHA:199299 |
| Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lymphocytosis |
ORPHA:79087 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Craniosynostosis, Eosinophilia, Osteopenia |
ORPHA:2314 |
| Cinca Syndrome |
|
Joint dislocation, Abnormality of neutrophils, Abnormal joint morphology, Pseudopapilledema, Leuk... |
ORPHA:1451 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... |
ORPHA:99886 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Prominent metopic ridge |
OMIM:618856 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Optic Atrophy 15 |
|
Optic atrophy, Optic disc pallor |
OMIM:620583 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase... |
ORPHA:507 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Coronal craniosynostosis, Osteopenia, Extramedullary hematopoie... |
ORPHA:313855 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel... |
OMIM:606367 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... |
OMIM:616959 |
| Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
| Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Splenic cyst, Abscess, Eosinophilia, Bone cyst |
ORPHA:400 |
| Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
| Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
| Incontinentia Pigmenti |
|
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Absent hand, Retinal vascular pr... |
ORPHA:464 |
| Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness |
OMIM:616389 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Ankle swelling, Swelling of proximal interphalangeal joints, Hepatosplenomegaly, T... |
ORPHA:3260 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Optic... |
OMIM:169550 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Leukocytos... |
ORPHA:2307 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Splenom... |
OMIM:615122 |
| Incontinentia Pigmenti |
|
Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Eosinophili... |
OMIM:308300 |
| Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections |
OMIM:617475 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
| Alveolar Echinococcosis |
|
Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Abnormal pelvis bone morphol... |
ORPHA:284 |
| Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Facial paralysis, Flared metaphysis, Pancytopenia, Splenomegaly, Femur fracture, O... |
OMIM:259700 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... |
ORPHA:169090 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... |
ORPHA:158057 |
| Axial Spondylometaphyseal Dysplasia |
|
Flattened femoral head, Optic atrophy, Peripheral retinal degeneration, Abnormal ilium morphology... |
ORPHA:168549 |
| Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
| Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Genu valgum, Delayed ... |
OMIM:620099 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Hemophagocytosis, Pulmonary hemorrhage, Hepatosplenomegaly, Monocytosis, Hep... |
OMIM:619644 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus, Retinal dystrophy |
ORPHA:49827 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, H... |
ORPHA:292 |
| Zika Virus Disease |
|
Ankle swelling, Wrist swelling, Optic disc hypoplasia, Retinal pigment epithelial mottling, Chori... |
ORPHA:448237 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... |
OMIM:619858 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Abnormal optic disc morphology, Comp... |
ORPHA:363417 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peri... |
OMIM:604484 |
| Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Abscess, Abnormal long bone morphology, Eosinophilia, Abnor... |
ORPHA:228123 |
| Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
| Juvenile Paget Disease |
|
Optic atrophy, Coarse metaphyseal trabecularization, Cranial hyperostosis, Abnormality of retinal... |
ORPHA:2801 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... |
ORPHA:79124 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
| Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration |
OMIM:615010 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Retinal degenerati... |
OMIM:249270 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T cell functio... |
OMIM:613179 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... |
OMIM:116920 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Arthritis |
ORPHA:183 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Papilledema, Osteopetrosis, Anemia, Increased bone mineral density |
OMIM:620366 |
| Bent Bone Dysplasia Syndrome 1 |
|
Coronal craniosynostosis, Hepatosplenomegaly, Decreased calvarial ossification, Short clavicles, ... |
OMIM:614592 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor, Osteopenia |
OMIM:619446 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperglycemia, Hyperinsuline... |
OMIM:608612 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Decreased platelet glycoprotein Ib |
OMIM:603585 |
| Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... |
OMIM:616170 |
| Cohen Syndrome |
|
Optic atrophy, Leukopenia, Genu valgum, Bull's eye maculopathy, Chorioretinal dystrophy, Cubitus ... |
OMIM:216550 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, N... |
ORPHA:3243 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ... |
ORPHA:221139 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Pterygium, Osteolysis involving tarsal b... |
ORPHA:371428 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Left ventricular systolic dysfunction, Abnormal macrophage morphology, Elevated circulating creat... |
ORPHA:353 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
| Igg4-Related Pachymeningitis |
|
Abnormality of cervical plexus, Eosinophilia, Abnormal optic nerve morphology, Abnormality of the... |
ORPHA:449427 |
| Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
| Roifman-Chitayat Syndrome |
|
Optic atrophy, Osteopenia, Cone-shaped epiphysis, Arthritis, Short metatarsal, Short metacarpal |
OMIM:613328 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent viral infections, Increased circulating IgE level, Recurrent fungal infections, Increas... |
OMIM:620565 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Osteopenia, Insulin-resistant diabetes mellitus, Delayed cranial ... |
OMIM:248370 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Retrobulbar optic neuritis, Hyperglycemia |
OMIM:619737 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Extramedullary hematopoiesis, Flared metaphysis, Cranial hyperostosis, Hepatosplen... |
OMIM:259720 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... |
OMIM:201000 |
| Optic Atrophy 5 |
|
Optic atrophy, Optic disc pallor |
OMIM:610708 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... |
OMIM:605282 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Knee dislocation, Monkey wrench femoral neck... |
OMIM:615777 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Delayed cranial sutur... |
ORPHA:2484 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Oste... |
ORPHA:289157 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
ORPHA:79477 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... |
ORPHA:2298 |
| Dysosteosclerosis |
|
Short diaphyses, Optic atrophy, Osteopenia, Facial paralysis, Broad femoral neck, Flared metaphys... |
OMIM:224300 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Optic atrophy, Slender long bone, Cubitus valgus, Reduced bone mineral density |
ORPHA:1185 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Optic atrophy, Flared metaphysis, Facial hyperostosis, Club-shaped distal femur, Patchy sclerosis... |
OMIM:218400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... |
OMIM:603553 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morphology, Absent bra... |
ORPHA:1215 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Optic atrophy, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Joint contracture of the hand, Pigmentary retinopathy, Peripheral demyelination, A... |
OMIM:609033 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Leukopenia, Macrocytic anemia, Thrombocytopenia, Anemia |
ORPHA:27 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:306400 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... |
ORPHA:39812 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Splenomegaly, Joint swelling, Arthropathy, Abnormal metacarpophalangeal joint morp... |
ORPHA:465508 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Widely patent fontanelles and sutures |
OMIM:168550 |
| Camurati-Engelmann Disease |
|
Optic atrophy, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Craniofa... |
ORPHA:1328 |
| Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Chronic decreased circulating total IgG, Recurrent bacterial inf... |
OMIM:300972 |
| Dysosteosclerosis |
|
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal cranial ... |
ORPHA:1782 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Rickets, Glycosuria, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:268315 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint... |
OMIM:212112 |
| Lymphatic Filariasis |
|
Knee osteoarthritis, Hypereosinophilia, Ankle swelling |
ORPHA:2035 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Hyperglycemia, Prominent metopic ridge |
ORPHA:79134 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal |
OMIM:113300 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy, Limited mobility of proximal interphalangeal joint, Sidero... |
OMIM:222300 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent otitis media, Reduced natural killer cell activity, Impaired ADP-i... |
OMIM:608233 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Papilledem... |
OMIM:127000 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... |
OMIM:300106 |
| Hyperostosis Cranialis Interna |
|
Optic atrophy, Hyperostosis cranialis interna, Calvarial hyperostosis, Facial palsy, Osteoscleros... |
OMIM:144755 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Retinitis Pigmentosa 10 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Broad thumb, Broad hallux, Insulin-resistant diabetes mellitus, Microcytic anemia, Overlapping to... |
ORPHA:293967 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
| Psoriasis 14, Pustular |
|
Oligoarthritis, Leukocytosis, Polyarticular arthritis, Neutrophilia |
OMIM:614204 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... |
ORPHA:231222 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... |
OMIM:618022 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Ankle clonus, Optic disc pallor |
OMIM:609541 |
| Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... |
OMIM:242840 |
| Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
| Sarcoidosis |
|
Leukopenia, Joint swelling, Bone cyst, Increased T cell count, Eosinophilia, Thrombocytopenia, An... |
ORPHA:797 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... |
ORPHA:1452 |
| Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
| Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Bowing of the long bones, Fasting hy... |
ORPHA:2088 |
| Short Syndrome |
|
Insulin resistance, Clinodactyly, Insulin-resistant diabetes mellitus, Slender long bone, Radial ... |
OMIM:269880 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612572 |
| Cushing Disease |
|
Lymphopenia, Optic nerve compression, Leukocytosis, Osteoporosis, Decreased eosinophil count, Dia... |
ORPHA:96253 |
| Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Aplasia/hypoplasi... |
OMIM:609945 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
| Retinitis Pigmentosa 25 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperins... |
ORPHA:2457 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Hyperglycemia, Overlapping fingers, Anemia, Diabetes mellitus, Optic nerve hypoplasia |
OMIM:609069 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Short clavicles, Short 4th metacarpal, Joint dislocation |
OMIM:606220 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous... |
OMIM:214500 |
| Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormal optic nerve morphology, Abnormali... |
ORPHA:449563 |
| Xylt1-Cdg |
|
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Short clavicles, Short long bone... |
ORPHA:370930 |
| Retinitis Pigmentosa 72 |
|
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... |
OMIM:616469 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Chr... |
ORPHA:906 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Optic atrophy, Ulnar deviation of finger, Slender long bone, Chorioretinal coloboma, Delayed cran... |
OMIM:210730 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
| Poems Syndrome |
|
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis of... |
ORPHA:2905 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis |
ORPHA:134 |
| Marshall-Smith Syndrome |
|
Optic atrophy, Slender long bone, Bowing of the long bones, Craniosynostosis, Reduced bone minera... |
ORPHA:561 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, A... |
ORPHA:198 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity |
ORPHA:440727 |
| Pycnodysostosis |
|
Aplastic clavicle, Persistent open anterior fontanelle, Wormian bones, Brachydactyly, Narrow ilia... |
OMIM:265800 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
| Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Chorioretinitis, Splenomegaly, Anemia, Thrombocytopenia, Retinal hemorrhage |
ORPHA:294 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Congenital Syphilis |
|
Optic atrophy, Periostitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Chori... |
ORPHA:499009 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Bowing of the long bo... |
ORPHA:536471 |
| Sclerosteosis 1 |
|
Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondar... |
OMIM:269500 |
| Interstitial Cystitis |
|
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... |
ORPHA:37202 |
| Juvenile Glaucoma |
|
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... |
ORPHA:98977 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Optic atrophy, Bone marrow hypocellularity, Osteopenia, Metaphyseal sclerosis, Genu valgum, Bowin... |
OMIM:612199 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Cutaneous abscess, Eosinophilia, Craniosynostosis, Recurrent cutaneous abscess formation |
OMIM:147060 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Leukocytosis |
ORPHA:90065 |
| Enlarged Parietal Foramina |
|
Short clavicles, Craniosynostosis, Broad thumb |
ORPHA:60015 |
| Hurler Syndrome |
|
Cranial hyperostosis, Calvarial hyperostosis, Hepatosplenomegaly, Splenomegaly, Retinal degenerat... |
OMIM:607014 |
