Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly |
OMIM:619126 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly |
OMIM:608971 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis |
OMIM:618852 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Congenital Toxoplasmosis |
|
Lymphadenopathy, Microphthalmia |
ORPHA:858 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:97290 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:319487 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Mu-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
OMIM:300853 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100025 |
Rhabdoid Tumor |
|
Lymphadenopathy, Irritability |
ORPHA:69077 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Mediast... |
OMIM:615559 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splen... |
OMIM:618534 |
Microphthalmia-Brain Atrophy Syndrome |
|
Inappropriate crying, Bilateral microphthalmos |
ORPHA:77299 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen |
ORPHA:543 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Splenomegaly |
OMIM:603552 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
17Q12 Microduplication Syndrome |
|
Self-injurious behavior, Microphthalmia |
ORPHA:261272 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Immunodeficiency 27A |
|
Lymphadenopathy, Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly |
OMIM:209950 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly |
ORPHA:290 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... |
OMIM:602450 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly |
OMIM:612840 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Schnitzler Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Absent tonsils |
ORPHA:277 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Niemann-Pick Disease, Type A |
|
Lymphadenopathy, Irritability, Splenomegaly |
OMIM:257200 |
Nephroblastoma |
|
Lymphadenopathy, Aniridia |
ORPHA:654 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Tularemia |
|
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... |
ORPHA:3392 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly |
OMIM:611762 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Splenomegaly |
OMIM:615085 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Aggressive behavior, Self-injurious behavior, Microphthalmia, Lens coloboma |
OMIM:618914 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Immunodeficiency 105 |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
OMIM:619924 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Aregenerative Anemia |
|
Emotional lability, Lymphadenopathy, Bone marrow hypocellularity, Depression |
ORPHA:101096 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Microphthalmia, Aniridia |
OMIM:602361 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Immunodeficiency, Common Variable, 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:607594 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Immunodeficiency 54 |
|
Lymphadenopathy, Splenomegaly |
OMIM:609981 |
Temtamy Syndrome |
|
Self-mutilation, Microphthalmia |
OMIM:218340 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Aggressive behavior, Microphthalmia |
OMIM:152950 |
Indolent Systemic Mastocytosis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98848 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Splenomegaly |
OMIM:618495 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:150550 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Myoclonic-Astatic Epilepsy |
|
Abnormal emotion/affect behavior, Microphthalmia |
ORPHA:1942 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:619375 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Lymphoproliferative Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
OMIM:615122 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Lymphadenopathy, Cervical lymphadenopathy |
OMIM:614034 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Follicular hyperplasia, Splenomegaly |
OMIM:614470 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:616651 |
3Q29 Microdeletion Syndrome |
|
Aggressive behavior, Bipolar affective disorder, Microphthalmia, Depression, Anxiety |
ORPHA:65286 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Abnormality of the lymphatic system |
ORPHA:54251 |
Rere-Related Neurodevelopmental Syndrome |
|
Self-injurious behavior, Microphthalmia |
ORPHA:494344 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly |
ORPHA:911 |
Matthew-Wood Syndrome |
|
Microphthalmia, Abnormal spleen morphology, Anophthalmia |
ORPHA:2470 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Microphthalmia |
ORPHA:335 |
Immunodeficiency 7 |
|
Lymphadenopathy, Splenomegaly |
OMIM:615387 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Anxiety |
ORPHA:404440 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:85414 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:3226 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Aggressive behavior, Microphthalmia |
OMIM:310600 |
Leishmaniasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:507 |
Griscelli Syndrome Type 2 |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79477 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:601859 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis |
OMIM:618935 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Refsum Disease |
|
Microphthalmia, Splenomegaly |
ORPHA:773 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:603909 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Boutonneuse Fever |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:83313 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Lymphadenopathy, Splenomegaly |
ORPHA:169090 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:308240 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Griscelli Syndrome |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:381 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Bone marrow hypocellularity, Optic nerve hypoplasia |
OMIM:609053 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Desmoplastic Small Round Cell Tumor |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:83469 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3162 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... |
ORPHA:2334 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Joubert Syndrome 14 |
|
Irritability, Microphthalmia |
OMIM:614424 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Lymphadenopathy, Irritability, Splenomegaly |
OMIM:267700 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Aggressive behavior, Microphthalmia |
OMIM:620098 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Aggressive behavior |
ORPHA:369891 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:2686 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Lymphadenopathy, Irritability, Splenomegaly, Hepatosplenomegaly |
OMIM:603553 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Scrub Typhus |
|
Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
American Trypanosomiasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
Primary Myelofibrosis |
|
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
ORPHA:824 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619183 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphadenopathy, Splenomegaly |
OMIM:616100 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Cinca Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:1451 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Felty Syndrome |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:47612 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Omenn Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:39041 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Graft Versus Host Disease |
|
Lymphadenopathy, Irritability, Hepatosplenomegaly |
ORPHA:39812 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Lymphoproliferative Syndrome 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:613011 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy |
ORPHA:97289 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Castleman Disease |
|
Lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:160 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:36412 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Depression, Anxiety |
ORPHA:250989 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
OMIM:301078 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Aggressive behavior, Microphthalmia |
OMIM:619148 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Omenn Syndrome |
|
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly |
OMIM:603554 |
Gamma-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100026 |
Microphthalmia, Lenz Type |
|
Self-injurious behavior, Microphthalmia |
ORPHA:568 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Legionnaires Disease |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:549 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Enlarged tonsils, Hepatosplenomegaly |
OMIM:606367 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Macrophage Activation Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:158061 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Mixed Connective Tissue Disease |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:809 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly |
OMIM:308230 |
Stromme Syndrome |
|
Microphthalmia, Accessory spleen, Optic nerve hypoplasia |
OMIM:243605 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy |
OMIM:614700 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Mevalonic Aciduria |
|
Lymphadenopathy, Fluctuating splenomegaly, Hepatosplenomegaly |
OMIM:610377 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:540 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Mosaic Trisomy 9 |
|
Asplenia, Microphthalmia |
ORPHA:99776 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Chediak-Higashi Syndrome |
|
Macular hypoplasia, Lymphadenopathy, Splenomegaly |
OMIM:214500 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:615895 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Aggressive behavior, Microphthalmia |
ORPHA:464738 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
OMIM:260920 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:603467 |
3Q29 Microduplication Syndrome |
|
Microphthalmia, Aniridia |
ORPHA:251038 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617591 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Hypoplastic spleen, Multilobulated spleen, Anophthalmia |
OMIM:601186 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:233710 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy |
ORPHA:520 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Chikungunya |
|
Lymphadenopathy, Diminished motivation, Depression, Cervical lymphadenopathy |
ORPHA:324625 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:199241 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:233690 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Anxiety, Bipolar affective disorder, Microphthalmia, Depression, Abnorm... |
ORPHA:567 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Generalized lymphadenopathy, Lymphadenopathy, Cervical lymphadeno... |
ORPHA:50918 |
Persistent Hyperplastic Primary Vitreous |
|
Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi |
ORPHA:91495 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Lymphatic Filariasis |
|
Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system |
ORPHA:2035 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Waldenström Macroglobulinemia |
|
Lymphadenopathy, Splenomegaly |
ORPHA:33226 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Holoprosencephaly |
|
Abnormality of the spleen, Microphthalmia, Anophthalmia |
ORPHA:2162 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Malt Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Carney Triad |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:139411 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:227645 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Meckel Syndrome |
|
Asplenia, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Accessory spleen |
ORPHA:564 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98849 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cervical lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
OMIM:602782 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
Poems Syndrome |
|
Lymphadenopathy |
ORPHA:2905 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Polysplenia, Lymphadenopathy, Accessory spleen, Splenomegaly |
OMIM:619418 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
H Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:168569 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia |
ORPHA:2092 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Q Fever |
|
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
ORPHA:781 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Mend Syndrome |
|
Aggressive behavior, Microphthalmia |
ORPHA:401973 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Thymic Aplasia |
|
Lymphadenopathy, Aplasia of the thymus |
ORPHA:83471 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia |
OMIM:236670 |
Oculoauricular Syndrome |
|
Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia |
OMIM:612109 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia, Bone marrow hypocellularity |
OMIM:614083 |
Selective Igm Deficiency |
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Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Oculocerebrorenal Syndrome Of Lowe |
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Self-injurious behavior, Buphthalmos, Microphthalmia, Depression, Anxiety |
ORPHA:534 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia |
OMIM:300952 |
2Q31.1 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:251014 |
Fanconi Anemia, Complementation Group D2 |
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Microphthalmia, Bone marrow hypocellularity |
OMIM:227646 |
Granulomatous Disease, Chronic, X-Linked |
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Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:306400 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatosplenomegaly |
OMIM:615688 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Microphthalmia, Accessory spleen |
OMIM:620005 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphadenopathy, Cervical lymphadenopathy |
OMIM:617718 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lymphadenopathy |
OMIM:607944 |
Common Variable Immunodeficiency |
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Lymphadenopathy, Splenomegaly |
ORPHA:1572 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Momo Syndrome |
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Bilateral microphthalmos |
ORPHA:2563 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Pelvis-Shoulder Dysplasia |
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Bilateral microphthalmos |
ORPHA:2839 |
Treacher-Collins Syndrome |
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Hypoplasia of the thymus, Microphthalmia |
ORPHA:861 |
Hennekam Syndrome |
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Pulmonary lymphangiectasia, Lymphadenopathy, Splenomegaly, Lymphangioma |
ORPHA:2136 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Microphthalmia |
ORPHA:364577 |
Cockayne Syndrome B |
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Microphthalmia, Hypoplasia of the iris, Splenomegaly |
OMIM:133540 |
Hallermann-Streiff Syndrome |
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Microphthalmia |
OMIM:234100 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Abnormal lymph node morphology, Neoplasm of the thymus, Suicidal ideation, Anxiety, Emotional lab... |
ORPHA:99889 |
Trisomy 18 |
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Microphthalmia |
ORPHA:3380 |
Autoimmune Lymphoproliferative Syndrome |
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Hypersplenism, Lymphadenopathy, Bone marrow hypocellularity, Chronic noninfectious lymphadenopath... |
ORPHA:3261 |
Vacterl With Hydrocephalus |
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Microphthalmia, Anophthalmia |
ORPHA:3412 |
Cousin Syndrome |
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Microphthalmia |
OMIM:260660 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia |
OMIM:600901 |
Pierson Syndrome |
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Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the iris, Micro... |
OMIM:609049 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia |
ORPHA:85167 |
Dubowitz Syndrome |
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Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Teebi-Shaltout Syndrome |
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Microphthalmia |
OMIM:272950 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Lymphadenopathy, Splenomegaly |
ORPHA:37042 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia |
OMIM:227650 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia |
ORPHA:1236 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microphthalmia |
OMIM:616300 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Chédiak-Higashi Syndrome |
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Lymphadenopathy, Splenomegaly, Hepatosplenomegaly |
ORPHA:167 |
Incontinentia Pigmenti |
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Microphthalmia |
ORPHA:464 |
Meckel Syndrome, Type 1 |
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Microphthalmia, Asplenia, Accessory spleen, Splenomegaly |
OMIM:249000 |
Jacobsen Syndrome |
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Macular hypoplasia, Microphthalmia |
OMIM:147791 |
Cockayne Syndrome Type 3 |
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Microphthalmia, Splenomegaly |
ORPHA:90324 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Curry-Jones Syndrome |
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Microphthalmia |
OMIM:601707 |
Pallister-Hall Syndrome |
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Microphthalmia |
OMIM:146510 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Tangier Disease |
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Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatosplenomegaly |
ORPHA:31150 |
Multiple Myeloma |
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Lymphadenopathy, Splenomegaly |
ORPHA:29073 |
Brucellosis |
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Hypersplenism, Lymphadenopathy, Splenomegaly, Depression |
ORPHA:1304 |
Behçet Disease |
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