Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Gombo Syndrome |
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Microphthalmia, Delayed puberty, Abnormal heart morphology |
OMIM:233270 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormal lymph node morphology |
OMIM:136580 |
Mantle Cell Lymphoma |
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Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Nephronophthisis 16 |
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Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Lymphadenopathy |
OMIM:312500 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Splenomegaly, Enlarged kidney, Hepatomegaly |
OMIM:615285 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Pulmonary Nodular Lymphoid Hyperplasia |
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Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Hereditary Progressive Mucinous Histiocytosis |
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Lymphadenopathy |
ORPHA:158025 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Lambert Syndrome |
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Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Cerebrooculofacioskeletal Syndrome 3 |
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Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Adams-Oliver Syndrome 4 |
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Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... |
ORPHA:730 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy |
ORPHA:100024 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hydrocephalus, Microphthalmia, Ascites, Intrauterine growth retardation |
ORPHA:858 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... |
ORPHA:97290 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Hepatitis, Lymphadenopathy |
ORPHA:444463 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... |
OMIM:232220 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Generalized lymphadenopathy, Elevated circulati... |
OMIM:615559 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... |
OMIM:608836 |
Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenome... |
OMIM:276700 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal... |
ORPHA:464329 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the liver, Abnormality of the pancreas, Abnormal lymph ... |
ORPHA:543 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Lobar holoprosencephaly |
ORPHA:2117 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Rhabdoid Tumor |
|
Renal neoplasm, Lymphadenopathy, Hematuria, Neoplasm of the liver, Irritability |
ORPHA:69077 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy |
OMIM:603552 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616171 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer... |
OMIM:232200 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... |
ORPHA:319487 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Abnormality of the pancr... |
ORPHA:54251 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni... |
OMIM:614034 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy |
ORPHA:654 |
Cofs Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the he... |
ORPHA:84081 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Polyphagia, Enlarge... |
ORPHA:251004 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Short stature, Atrial septal defect, Microphthalmia, Tetralogy of Fallot |
OMIM:300887 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Abnormal urinary color, Lymphadenopathy |
ORPHA:56425 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
H Syndrome |
|
Abnormality of the kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Enlarged kidney |
ORPHA:168569 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Glomerulonephritis, Lymphadenopathy |
OMIM:619375 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab... |
ORPHA:85450 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Lymphadenopathy |
OMIM:618495 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the iris, Atrial septal defect, M... |
ORPHA:290 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
OMIM:257200 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Anterior basal encephalocele |
OMIM:136760 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia |
ORPHA:2189 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:26790 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Nephrolithiasi... |
ORPHA:79259 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Short stature |
OMIM:619318 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Hepatic cysts, Ureteral hypoplasia, Irritability, Peripo... |
ORPHA:79328 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale |
OMIM:618652 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Hydrocephalus, Growth delay, Holoprosencephaly, Micropht... |
ORPHA:77298 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Growth delay, Microphthalmia, Intrauterine growth retardation |
ORPHA:85284 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy |
ORPHA:79477 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia, Ventricular septal defect |
ORPHA:93267 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
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 |
Pierpont Syndrome |
|
Microphthalmia, Short stature |
OMIM:602342 |
Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Atrial ... |
ORPHA:3378 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:600118 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles... |
ORPHA:1333 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... |
OMIM:618494 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Monosomy 18P |
|
Microphthalmia, Short stature, Holoprosencephaly, Lymphedema |
ORPHA:1598 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:619053 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Aniridia, Microphthalmia, Ascites |
OMIM:602361 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... |
OMIM:306955 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Short stature, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, H... |
ORPHA:549 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... |
OMIM:603909 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Spina b... |
ORPHA:99776 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... |
ORPHA:116 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Short stature, Edema |
ORPHA:2505 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Disproportionate short-... |
ORPHA:85194 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia, Hydrocephalus |
OMIM:613153 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect |
OMIM:613730 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph... |
OMIM:615873 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosp... |
OMIM:618935 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, Hepatic failure |
OMIM:308240 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... |
ORPHA:911 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:381 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay, Microphthalmia |
OMIM:614424 |
Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature |
OMIM:606744 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Int... |
OMIM:618804 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Abnormal heart morphology, Microphthalmi... |
ORPHA:494344 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Jaundice, Absent tonsils, Hepatomegaly |
ORPHA:276 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia |
ORPHA:370959 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Oligohydramnios |
OMIM:614219 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Short stature, Atrial septal defect, Microphth... |
OMIM:609053 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Dysphagia, Lymphadenopathy |
ORPHA:100026 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy |
OMIM:618805 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... |
ORPHA:3412 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability... |
OMIM:300855 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short stature |
OMIM:614583 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphadenopathy |
ORPHA:79456 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Lymphadenopathy, He... |
ORPHA:36412 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... |
OMIM:616843 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Lymphadenopathy |
ORPHA:39041 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Bilateral microphthalmos, Abnormal heart morphology, Um... |
ORPHA:369891 |
Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Ascites, Microphthalmia, Tetra... |
ORPHA:974 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Cholestatic... |
ORPHA:540 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Hydrocephalus, Low posterior hairline, Tricuspid va... |
ORPHA:261337 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Cat Eye Syndrome |
|
Ventricular septal defect, Short stature, Umbilical hernia, Hypoplastic left heart, Total anomalo... |
OMIM:115470 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hepatitis, Lymphadenop... |
ORPHA:139402 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1915 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Anorexia, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly, Decreased live... |
ORPHA:98850 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Cholestasis, Lymphadeno... |
OMIM:615895 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Thyroid Lymphoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect |
ORPHA:261330 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Hepatitis, C... |
OMIM:308230 |
Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia, Ventricular septal defect, Polyhydramnios |
OMIM:616920 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Dehydration |
OMIM:214150 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Single ventricle, Holoprosencephaly, Micr... |
OMIM:619879 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature |
ORPHA:2788 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Ne... |
ORPHA:97289 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Microphthalmia, Aortic valve ... |
OMIM:243310 |
Scrub Typhus |
|
Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation |
ORPHA:2728 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit... |
ORPHA:100924 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Hepatopulmonary fusion, Enlarged kidney, Patent urachus, Micropenis, Penoscrota... |
OMIM:618280 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Hepatitis... |
ORPHA:829 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia, Hydrocephalus |
OMIM:617244 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Hydrocephalus, Abnormal cardiac septum morphology, Umbilical herni... |
ORPHA:2166 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Intrauterine growth retardation |
ORPHA:1352 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosenceph... |
ORPHA:3380 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplen... |
OMIM:603553 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At... |
OMIM:613001 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Irritability |
OMIM:267700 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature, Abnormal heart morphology |
OMIM:610758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Recurrent urinary tract infections, Lymph node hypoplasia |
OMIM:613179 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251230 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Bone marrow hypo... |
ORPHA:47612 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100080 |
Marden-Walker Syndrome |
|
Postnatal growth retardation, Microphthalmia, Dextrocardia, Intrauterine growth retardation |
OMIM:248700 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ... |
ORPHA:39812 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:142 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... |
ORPHA:2035 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Hepatitis, Lymphadenopathy, ... |
ORPHA:781 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Oliguria, Anorexia |
ORPHA:514 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Hepatitis, Lymphadenopathy |
OMIM:304790 |
Joubert Syndrome 37 |
|
Microphthalmia, Short stature |
OMIM:619185 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Lymphadenopathy |
ORPHA:99812 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Absence of lymph node germinal ... |
ORPHA:79124 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy |
ORPHA:2686 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Polyhydramnios, Atrial septal defect, Microphthalmia, Intrauterine growth retardation |
OMIM:603467 |
Cinca Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect, Holoprosencephaly, Short stature |
OMIM:612530 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Aregenerative Anemia |
|
Depression, Emotional lability, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia, Atrioventricular canal defect |
OMIM:619135 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle... |
OMIM:312870 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Short stature, Severe short stature, Bilateral microphth... |
OMIM:601186 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Abn... |
ORPHA:93552 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:614526 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula |
ORPHA:861 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:611961 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Nephropathy |
ORPHA:809 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Intrauterine growth retardation |
OMIM:244300 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, H... |
OMIM:619802 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Micro... |
OMIM:619148 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Renal insufficiency, Cholestasis, Lymphadenopathy |
ORPHA:293173 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Complete at... |
ORPHA:508488 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Polyhydramnios |
ORPHA:3301 |
Acute Promyelocytic Leukemia |
|
Hematuria, Addictive alcohol use, Anorexia, Lymphadenopathy |
ORPHA:520 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Holoprosencephaly, Su... |
ORPHA:1052 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Bilateral micro... |
ORPHA:2839 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation |
OMIM:617729 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Fluctuating hepatomegaly, Fluctuating splenomegaly, Lymphadenopath... |
OMIM:610377 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Short stature, Abnormal heart morphology |
OMIM:618571 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia, Ventricular septal defect |
OMIM:234050 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Lymphadenopathy |
ORPHA:33226 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia |
OMIM:302960 |
Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
OMIM:615663 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy |
ORPHA:335 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100082 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Atrial septal defect, Patent foramen ovale, Right ventricular hypert... |
OMIM:620186 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Abnormal cardiac septum morphology, Microphthalmia, Intrauterine gr... |
ORPHA:250989 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Spina bifida, Transposition of the great arteries, Sho... |
OMIM:256520 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Lymphadenopathy |
OMIM:617591 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Situs inversus totalis, Hydrocephalus, Anencephaly, Lobar holoprosen... |
ORPHA:564 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:2510 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... |
OMIM:260920 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Ventricular septal defect, Hydrops fetalis |
ORPHA:268249 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis,... |
ORPHA:342 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus |
OMIM:613150 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:97287 |
Refsum Disease |
|
Microphthalmia, Cardiomyopathy |
ORPHA:773 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral ... |
OMIM:300755 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lym... |
OMIM:602782 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... |
ORPHA:29073 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Atrial septal de... |
OMIM:147791 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Short stature |
OMIM:617306 |
Cohen Syndrome |
|
Ventricular septal defect, Short stature, Mitral valve prolapse, Delayed puberty, Microphthalmia,... |
ORPHA:193 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly,... |
ORPHA:50918 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, ... |
ORPHA:333 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Hypoplasia of the iris, Abnormal cardiac septum morpholo... |
ORPHA:2092 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic... |
OMIM:100300 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614222 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:616449 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:899 |
Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the iris, Growth delay, Intraut... |
ORPHA:84 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:614643 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Splenomegaly, Abnormality of the liver, Lymphadenopathy |
ORPHA:1572 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Hepatic failure, Hydron... |
ORPHA:100078 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Optic disc hypoplasia, Atrial septal defect, Microphthalmia, Spina bif... |
OMIM:607323 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Hydrocephalus, Atrial septal defect, ... |
OMIM:309801 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Splenome... |
OMIM:615688 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem... |
ORPHA:538 |
Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Ventricular septal defect, Polyhydramnios |
ORPHA:1692 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Spi... |
ORPHA:508498 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Atrial septal defect, Microph... |
ORPHA:2526 |
Martsolf Syndrome 1 |
|
Microphthalmia, Short stature, Cardiomyopathy |
OMIM:212720 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Ventricular septal defect |
ORPHA:251038 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Polyhydramnios, Spina bifida, Sho... |
ORPHA:567 |
Fryns Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Tetralogy of Fallot, Polyhydramnios |
ORPHA:2059 |
Galloway-Mowat Syndrome 1 |
|
Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar... |
OMIM:251300 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly, Abnormal heart morphology |
OMIM:184705 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Microphthalmia |
OMIM:109400 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Growth delay, Umbilical hernia, Holoprosencephaly, Microphthalmia, Pat... |
OMIM:613884 |
Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Microphthalmia |
OMIM:260660 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus |
OMIM:608091 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
ORPHA:35173 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Abnormal cardiac septum morp... |
OMIM:249000 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Short statu... |
OMIM:206900 |
Monosomy 9Q22.3 |
|
Microphthalmia, Hydrocephalus, Umbilical hernia, Cardiac fibroma |
ORPHA:77301 |
Papillorenal Syndrome |
|
Microphthalmia, Short stature, Edema |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... |
OMIM:236670 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Microphthalmia, Congenital aphakia, Pulmo... |
ORPHA:137675 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy |
OMIM:214500 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Abnormal p... |
ORPHA:449432 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Hep... |
ORPHA:100075 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Short stature, Abnormal heart morphology |
OMIM:600901 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop... |
OMIM:610828 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... |
OMIM:236680 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Hepatomegaly |
OMIM:620233 |
Carney Triad |
|
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy |
ORPHA:139411 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Ventricular septal defect, Short stature, Intrauterine growth retardation |
OMIM:227645 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy |
OMIM:300952 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... |
ORPHA:556 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos, Mitral valve prolapse |
OMIM:618874 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Short stature, Abnormal heart morphology |
OMIM:227650 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Holoprosencephaly, Microphthalmia, Intrauterine growth ... |
OMIM:146510 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Splenomegaly, Hepatitis, Lymphadenopathy, Tubulointerstitial nephr... |
ORPHA:37042 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Glomerulonephritis, Anorexia, Hypersplenism, Splenomegaly, Lymphaden... |
ORPHA:1304 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:2714 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Hennekam Syndrome |
|
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Lymp... |
ORPHA:2136 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hyp... |
ORPHA:3261 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Atypical or prolonged hepatitis, Aplasia of the thymus, Recurrent urinary tract infections, Lymph... |
ORPHA:83471 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Depression |
ORPHA:536 |
Charge Syndrome |
|
Anophthalmia, Short stature, Polyhydramnios, Aqueductal stenosis, Postnatal growth retardation, A... |
ORPHA:138 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Aortic valve stenosis, Ventricular septal defect, Short stature |
OMIM:272950 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Mediastinal lymphadeno... |
ORPHA:228123 |
Mend Syndrome |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Microphthalmia, Aortic valve stenosis |
ORPHA:401973 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Short stature |
OMIM:257850 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Microphthalmia, Hydrocephalus, Intrauterine growth retardation |
OMIM:614083 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Branchial anomaly, Tetralogy o... |
OMIM:164210 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature |
ORPHA:464 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat... |
ORPHA:3472 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Short stature |
ORPHA:251014 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Ventricular septal defect, Dextrocardia, Short stature, Phthisis bulbi, Double outl... |
OMIM:300166 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Oligohydramnios, Ventricular septal hypertrophy, Microphthalmia, Intra... |
OMIM:608670 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature, Spina bifida |
OMIM:234100 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Short stature |
OMIM:601675 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Subvalvular aortic stenosis |
ORPHA:65286 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Short stature |
OMIM:610651 |
Branchiooculofacial Syndrome |
|
Branchial anomaly, Low posterior hairline, Short neck |
OMIM:113620 |
Monosomy 13Q14 |
|
Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation |
ORPHA:1587 |
Phace Association |
|
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:606519 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature |
ORPHA:568 |
Kawasaki Disease |
|
Proteinuria, Cervical lymphadenopathy, Jaundice, Hepatitis, Sterile pyuria, Irritability, Cholecy... |
ORPHA:2331 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:464738 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia, Rhizomelia |
OMIM:616300 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hydrocephalus, Short stature, Abnormal heart morphology |
OMIM:227646 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Short stature, Hydrocephalus, Abnormal heart morphol... |
OMIM:612289 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Birth length less than 3rd percen... |
OMIM:139210 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Nephrolithiasis, Hypercalciuria, Abnormal... |
ORPHA:797 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse,... |
ORPHA:2556 |
Stromme Syndrome |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:243605 |
Leptospirosis |
|
Hepatomegaly, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Elevated se... |
ORPHA:509 |
Holoprosencephaly 1 |
|
Short stature, Alobar holoprosencephaly, Microphthalmia, Ethmocephaly, Single ventricle |
OMIM:236100 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... |
OMIM:223370 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Anorexia, Splenomegaly, Lymphadenopathy, Irritability, Pancr... |
ORPHA:117 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphtha... |
OMIM:610829 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Lymphadenopathy |
OMIM:607944 |
Poems Syndrome |
|
Visceromegaly, Lymphadenopathy |
ORPHA:2905 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Hepatitis, Nephrotic syndrome, Irritabil... |
OMIM:615846 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glomerulonephritis, Bil... |
ORPHA:289390 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe postnatal growth retardation, Atrial septal defect, Microphthalmia, Patent foramen ovale, ... |
OMIM:620005 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Anorexia, Splenomegaly, Jaundice, Hemoperitoneum, ... |
ORPHA:99827 |
Trichothiodystrophy |
|
Ventricular septal defect, Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia, Intrauteri... |
ORPHA:33364 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot |
ORPHA:306542 |
Immunodeficiency 31C |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Short stature, Microphthalmia, Patent foramen ovale, Intrauterine grow... |
OMIM:616975 |
Tangier Disease |
|
Left ventricular hypertrophy, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, H... |
ORPHA:31150 |
Atelis Syndrome 2 |
|
Microphthalmia, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Holoprosencephaly, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Witteveen-Kolk Syndrome |
|
Branchial fistula |
OMIM:613406 |
Charge Syndrome |
|
Anophthalmia, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100079 |
Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia |
ORPHA:959 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Decre... |
ORPHA:167 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Growth delay, Atrial septal defect, Microphthalmia, Truncus arteriosus |
ORPHA:2538 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
Cockayne Syndrome B |
|
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Normal pressure hydro... |
OMIM:133540 |
Momo Syndrome |
|
Bilateral microphthalmos, Short stature |
ORPHA:2563 |
Aicardi Syndrome |
|
Postnatal growth retardation, Microphthalmia, Spina bifida |
OMIM:304050 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Roberts Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios |
ORPHA:3103 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Dehydration, Buphthalmos, Joint swelling, Umbilical hernia, Delayed puberty, Micro... |
ORPHA:534 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Cervical lymphadenop... |
ORPHA:653 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Selective Igm Deficiency |
|
Lymphadenitis, Recurrent urinary tract infections, Lymphadenopathy |
ORPHA:331235 |
Fryns Syndrome |
|
Ventricular septal defect, Polyhydramnios, Chylothorax, Atrial septal defect, Microphthalmia |
OMIM:229850 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Short stature |
OMIM:308300 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:2612 |
Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:617666 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymphadenopathy, H... |
OMIM:181000 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, A... |
ORPHA:90340 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Ventricular septal defect, Short stature |
OMIM:259770 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Patent foramen ovale, Intrauterine growth retardation |
OMIM:263650 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short stature |
OMIM:201180 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Degcags Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Microphthalmi... |
OMIM:619488 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Hydrocephalus, Short stature, True anophthalmia |
ORPHA:1106 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, ... |
ORPHA:468631 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Complete atrioventricular canal defect, Tetralogy of Fallot |
OMIM:617925 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Anorexia, Aggressive behavior, Jaundice, Lymp... |
ORPHA:99826 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Microphthalmia |
OMIM:164200 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Lymphadenopathy, Pancreatitis |
ORPHA:449563 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Atrial septal defect, Microphth... |
OMIM:309500 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Intrauterine growth retardation, Umbilical hernia, Holo... |
ORPHA:672 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Short stature, Myelomeningocele, Hydrocephalus, Umbilical hernia, Aniridia, Microph... |
OMIM:305600 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93924 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Mild postnatal growth retardation, Cardiomyopathy |
ORPHA:90324 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmia |
ORPHA:141099 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Short stature |
OMIM:268400 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:667 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Aggressive behavior, Splenomegaly, Jaund... |
ORPHA:3385 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Chikungunya |
|
Depression, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature |
ORPHA:2108 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Abnormal ... |
OMIM:219000 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... |
ORPHA:798 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Anorexia, Neoplas... |
ORPHA:99889 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353277 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphadenopathy |
OMIM:619381 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Atrial septal defect, Microphthalmia, Total anomalous pulmonary venous return |
OMIM:609945 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia, Patent f... |
OMIM:619539 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Tubulointerstitial nephritis, Lymphadenopathy |
ORPHA:79078 |
Aicardi Syndrome |
|
Microphthalmia, Delayed puberty |
ORPHA:50 |
Plague |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Depression |
ORPHA:707 |
Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Single ventricle, Holoprosencephaly, Microphthalmia, Semilobar holopros... |
OMIM:157170 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Cockayne Syndrome |
|
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia |
ORPHA:191 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Hydrocephalus, Frontal e... |
OMIM:268300 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe... |
OMIM:612474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus |
OMIM:253280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Lymphadenopathy |
OMIM:256040 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Short stature |
OMIM:616734 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:273395 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Pulmonic stenosis, Atrial se... |
OMIM:235730 |
Townes-Brocks Syndrome |
|
Short stature, Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Delayed p... |
ORPHA:857 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
Lowe Oculocerebrorenal Syndrome |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:309000 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Short stature, Abnormal heart morphology, Growth delay, Abnormal cardiac s... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Abnormal pulmonary valve morphology, Short stature, Abnormal heart morphol... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stat... |
ORPHA:261552 |
Microphthalmia, Syndromic 6 |
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Microphthalmia, Anophthalmia |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
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Growth delay, Microphthalmia, Anophthalmia, Bicuspid aortic valve |
OMIM:309800 |