Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
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 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... |
OMIM:232700 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Sparse scalp hair, Skeletal muscle atrophy, Lipodystrophy, Sparse eyelashes, Sparse e... |
ORPHA:75496 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Micrognathia, Skin ulcer, Fine hair, Joint hyperflex... |
ORPHA:2500 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Joint stiffnes... |
ORPHA:1899 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Thenar muscle atrop... |
OMIM:612350 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Micrognathia, Skin dimple, Thin vermilion border, Short philtrum, Thin skin, Sparse ... |
ORPHA:261304 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipody... |
ORPHA:2348 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s... |
ORPHA:2457 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Joint hyperflexibility, Thin skin, Hernia, Umbilical hernia |
ORPHA:75497 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint ... |
ORPHA:2028 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd... |
OMIM:613630 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Abnormality of the dentition, Thick ... |
ORPHA:1810 |
Dermoodontodysplasia |
|
Mandibular prognathia, Sparse scalp hair, Melanocytic nevus, Tooth agenesis, Thin skin, Trichodys... |
ORPHA:1660 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Micrognathia, Premature graying of hair, Increased intraabdominal fat, Xanthomatosis, Advanced er... |
ORPHA:280365 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Dermoodontodysplasia |
|
Hypodontia, Thin skin, Trichodysplasia |
OMIM:125640 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Tyrosinemia Type 1 |
|
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Flexion contracture, Thin skin, Thenar muscle atrophy |
ORPHA:157965 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Preauricular pit, Diaphragmatic eventration, Craniosynostosis, Cleft p... |
OMIM:600252 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Joint stiffness, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Microdontia, Sparse hair, Bifid uvula, Hypospadias, Cle... |
OMIM:129400 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormality of the dentition, Micrognathia, Abnormal hair morphology, Osteo... |
ORPHA:90154 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Premature loss of primary teeth, Widely spaced ... |
OMIM:617364 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Aplasia/Hypoplasia o... |
ORPHA:79083 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Macule, Multicystic kidney dysplasi... |
ORPHA:2092 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Micrognathia, Carious teeth, Splenomegaly, Low anterior hairline,... |
ORPHA:742 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractu... |
OMIM:112250 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathi... |
OMIM:269880 |
Glass Syndrome |
|
Inguinal hernia, Dental crowding, Facial hypotonia, Conical tooth, Micrognathia, Pierre-Robin seq... |
OMIM:612313 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Dental crowding, Joint hypermobility, Hypospadias, Congenital diap... |
OMIM:617602 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, He... |
OMIM:603471 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Platyspondyly, Neoplasm, Hemang... |
ORPHA:296 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Hepatomegaly |
ORPHA:417 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Familial Cervical Artery Dissection |
|
Facial palsy, Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Oligodontia, Small, conical teeth, Aplasia cutis congenita, Abnormality of the dentition |
ORPHA:79499 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Thin skin, Striae distensae, Atypical scarring of skin |
OMIM:225310 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cryptorchidism, Distal amyotrophy, Umbilical hernia, Thin skin, Narrow mouth, Sp... |
OMIM:219150 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Supernumerary nipple, Aplasia cutis congenita, Cryptorchidism, Fine hair, Wide mouth... |
ORPHA:217346 |
Silver-Russell Syndrome 2 |
|
Downturned corners of mouth, Intrauterine growth retardation, Thin skin, Micrognathia |
OMIM:618905 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly |
ORPHA:79238 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone mineral density, Increased... |
ORPHA:561 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Recon Progeroid Syndrome |
|
Joint laxity, Skeletal muscle atrophy, Prominence of the premaxilla, Dental crowding, Thrombocyto... |
OMIM:620370 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Atrophic scars, Inguinal hernia, Thin skin |
OMIM:225320 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Inguinal hernia, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion con... |
OMIM:614438 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Lipoatrophy, Recurrent fractures, Micro... |
OMIM:601812 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Alveolar bone loss around teeth, Inguinal hernia, Hiatus hernia, Generalized joint ... |
OMIM:130080 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Cheilitis Glandularis |
|
Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrol... |
ORPHA:1816 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Thin skin, Hern... |
ORPHA:2078 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal dental en... |
ORPHA:2325 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Sparse body ha... |
ORPHA:79402 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma, Short neck |
OMIM:615225 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Flexion co... |
ORPHA:90153 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... |
OMIM:214900 |
Periventricular Nodular Heterotopia |
|
Hernia, Thin skin, Joint hypermobility |
ORPHA:98892 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Gingivitis, Dystrophic fingernails, Papule, Open bite, Skin ulcer, Jo... |
ORPHA:2907 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cr... |
ORPHA:1812 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Alopecia, Joint stiffness, Carious teeth, Osteoporosis, Increased... |
OMIM:136300 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Decreased muscle mass, Lipodystrophy, Cry... |
ORPHA:2962 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Downturned corners of mouth, Sk... |
ORPHA:79133 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia |
ORPHA:1046 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... |
OMIM:618761 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Joint hyperflexibility, Thin skin, Joint hypermobility, Skeletal muscle atrophy |
ORPHA:230839 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Cowden Syndrome 1 |
|
Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Hydro... |
OMIM:158350 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb... |
ORPHA:158061 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... |
ORPHA:2026 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... |
OMIM:604367 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Sparse scalp hair, Inguinal hernia, Thick eyebrow, Central diaphragmatic hernia, Cl... |
OMIM:614608 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Inguinal hernia, Hy... |
OMIM:151050 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythematous plaque, Thin skin, Dermal atrophy, Dystrophic fingernails, Milia, Dystrophic toenail |
ORPHA:158673 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Joint hypermobility, Protruding tongue, Synophrys, Widow's peak, Everted l... |
OMIM:617804 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Ureteral stenosis, Hypopigmentation of hair, Cryptorchidism, Limitation of joint... |
ORPHA:2719 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Thick eyebrow, Dental crowding, Hypermobility of distal interphalangeal joints, ... |
ORPHA:230851 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Sacral dimple, Scapular winging, Camptodactyly of finger, Highly arched ey... |
ORPHA:1327 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... |
ORPHA:2222 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Osteoporosis, Thin skin, Striae distensae |
OMIM:219080 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ... |
ORPHA:238468 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Premature gray... |
OMIM:612199 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal sacrum morpholo... |
ORPHA:2591 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... |
ORPHA:435660 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Bifid uvula, Long phil... |
OMIM:617506 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,... |
OMIM:614034 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Osteoporosis, Nephrolithiasis, Hirsutism, Thin skin, Striae distensae |
OMIM:219090 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Thick eyebrow, Cryptorchidism, Thi... |
OMIM:614607 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Thin skin, Finger joint h... |
OMIM:166200 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616171 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:141333 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Micrognathia, Carious teeth, Osteoporosis, Pathologic fracture, Elbow flexion contra... |
OMIM:601559 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormality of the dentition, Absent eyelashes, Abno... |
OMIM:607823 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Flexion contracture, Oste... |
OMIM:214150 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co... |
OMIM:217150 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Joint... |
ORPHA:137834 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... |
ORPHA:650 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal dental ename... |
ORPHA:10 |
Adult Syndrome |
|
Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary h... |
OMIM:103285 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Micrognathia, Flexion contracture, Neonatal death, Intrauterine growth reta... |
OMIM:275210 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon... |
OMIM:305100 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Neurofibroma |
|
Neoplasm of the trachea, Kyphoscoliosis, Symmetric spinal nerve root neurofibromas, Paraspinal ne... |
ORPHA:252183 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Meier-Gorlin Syndrome 1 |
|
Joint laxity, Absent sternal ossification, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... |
OMIM:224690 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, J... |
OMIM:603553 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Torticollis, Multiple joint contractures, Recurrent fractures, Tracheomalacia, Microg... |
ORPHA:536467 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Recurrent ... |
ORPHA:93160 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Numerous nev... |
ORPHA:536471 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Skin plaque, Milia... |
ORPHA:89843 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Micrognathia, Renal cyst, Widely spaced teeth, High palate, Nep... |
OMIM:266920 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Flexion contracture |
OMIM:612138 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hiatus hernia, Flex... |
OMIM:208050 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypopl... |
ORPHA:2409 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Reduced bone ... |
ORPHA:79474 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... |
OMIM:305620 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis, Thin skin, Striae distensae |
OMIM:610475 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, High palate, Short philtrum, Thin skin, Narrow mouth |
OMIM:201170 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Cryptorchidism, Thick lower l... |
OMIM:619797 |
Cofs Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
Osteogenesis Imperfecta, Type Ii |
|
Multiple prenatal fractures, Recurrent fractures, Absent ossification of calvaria, Thin skin |
OMIM:166210 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Hypoplasia of the ovary, Decreased proporti... |
ORPHA:66628 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... |
ORPHA:915 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis |
ORPHA:71267 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis... |
ORPHA:79411 |
Temple Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Hypercholesterolemia, Decreased testicu... |
OMIM:616222 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Den... |
OMIM:608612 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Splenomegaly, Oligosacchariduria, Macroglossia, Campt... |
OMIM:616354 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Osteoporosis, Thin skin, Striae distensae |
OMIM:610489 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Hypoplasia of the ovary, Decreased proporti... |
ORPHA:179494 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Hip osteoarthritis, Hypodontia |
ORPHA:63442 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Vascular Malformation, Primary Intraosseous |
|
Diastasis recti, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia, Umbilical hernia |
OMIM:606893 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Scoliosis, ... |
OMIM:278760 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Abnormal ly... |
ORPHA:85450 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,... |
ORPHA:920 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Thick lower l... |
OMIM:618342 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Osteopenia, Reduced bone mineral density |
OMIM:619489 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
ORPHA:540 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Ureter... |
OMIM:129900 |
Aplasia Cutis Congenita |
|
Facial palsy, Skin ulcer, Congenital localized absence of skin, Abnormality of bone mineral densi... |
ORPHA:1114 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Abnormal mandible morphology, Micrognathia |
ORPHA:1214 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Microdontia, Advanced e... |
OMIM:615873 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Joint stiffness, Subcutaneous nodule, Atypical ... |
ORPHA:1366 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Male hypogonadism, Hepatic steatosis |
OMIM:615381 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Enamel hypop... |
OMIM:226700 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Micropenis, Lymphopenia |
OMIM:617575 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis |
OMIM:602390 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosinophilia, Hi... |
OMIM:147060 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Micrognathia, Synophrys, Osteoporosis, Atyp... |
ORPHA:536545 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph... |
OMIM:190350 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow... |
OMIM:601345 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, General... |
OMIM:264090 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Increased hepatocellular ... |
ORPHA:71 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hyp... |
ORPHA:1782 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Rhabdoid Tumor |
|
Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia |
ORPHA:69077 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Micrognathia, Diastema, Carious teeth, Sparse eyebrow, High palate, Thi... |
OMIM:244450 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:619644 |
Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Skin tags, Alopecia, Sparse eyelashes, Microgna... |
ORPHA:2067 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High... |
ORPHA:96170 |
Emanuel Syndrome |
|
Broad jaw, Preauricular pit, Inguinal hernia, Sacral dimple, Dental crowding, Torticollis, Delaye... |
OMIM:609029 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Multiple non-erupting secondary teeth, Oligozoospermia |
OMIM:620277 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Alopecia, Hydroureter, Dental crowding, Sparse eyelashes, Delayed eruption of p... |
OMIM:616367 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Xeroderma Pigmentosum |
|
Macule, Craniofacial hyperostosis, Alopecia, Hypermelanotic macule, Abnormality of the dentition,... |
ORPHA:910 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele, Anemia |
OMIM:614450 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Hypermelanotic macule, Crypto... |
ORPHA:90322 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Preauricular pit, Dental crowding, Hypopigmen... |
OMIM:145420 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Pycnodysostosis |
|
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... |
ORPHA:763 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Becker Nevus Syndrome |
|
Hamartoma, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Synophrys, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral re... |
ORPHA:3455 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Splenomegaly, Leukocytosis, Nail dystrophy, Thin skin, Vesicoureteral re... |
OMIM:615895 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Dental crowding, Osteoporosis, Bladder diverticulum, T... |
OMIM:225400 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Craniosynostosis, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupt... |
ORPHA:2645 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M... |
OMIM:224300 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
ORPHA:412 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per... |
ORPHA:1775 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Thin skin, Joint laxity |
ORPHA:449291 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... |
ORPHA:97289 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Hypophosphatemic ri... |
OMIM:193100 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Craniosynostosis, Hiatus hernia, Abnormal zygomatic bone morphol... |
ORPHA:3342 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Myopathy, Dermal atr... |
ORPHA:257 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of the dentition, Abnormality of the gingiva, Osteoarthritis, Limita... |
ORPHA:285 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Dorsocervical fat pad, Intra-oral hyperpigme... |
ORPHA:96253 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb... |
ORPHA:884 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocy... |
OMIM:617591 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demi... |
OMIM:600785 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Nephronophthisis, ... |
OMIM:184260 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Frontal balding, Micrognathia, High, narrow palate, Cryptorchidism, Sy... |
ORPHA:96092 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthritis, Anemia |
ORPHA:375 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the dentition, Osteoarthritis, ... |
ORPHA:1657 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Micrognathia, Flexion contracture, Intrauterine growth retar... |
ORPHA:2671 |
Carpenter Syndrome 1 |
|
Omphalocele, Preauricular pit, Sacral dimple, Hydroureter, Sagittal craniosynostosis, Persistence... |
OMIM:201000 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of fing... |
OMIM:259600 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerar... |
ORPHA:1787 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612463 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma |
ORPHA:217390 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... |
ORPHA:160 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, Everted lower lip... |
OMIM:619736 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Chronic ... |
OMIM:300554 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R... |
ORPHA:1452 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters |
OMIM:132000 |
Axial Osteomalacia |
|
Myopathy, Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Tooth agenesis, Mic... |
ORPHA:633 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Joint stiffness, Carious teeth, Bone cyst, Skin ulcer, Dermal ... |
ORPHA:2047 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... |
ORPHA:50814 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Nephrocalcinosis, Flexion contracture |
OMIM:617105 |
Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Subcutaneous nodule, Limitation of joint mobility, N... |
ORPHA:2833 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Join... |
ORPHA:2107 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do... |
ORPHA:261494 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... |
ORPHA:98850 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy... |
ORPHA:2035 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal st... |
OMIM:301900 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Abnormal c... |
ORPHA:79086 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Aicardi Syndrome |
|
Block vertebrae, Hemivertebrae, Teratoma, Carcinoma, Scoliosis, Lipoma, Hepatoblastoma, Metastati... |
OMIM:304050 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De... |
OMIM:611590 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti... |
OMIM:603903 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Exaggerated cupid's bo... |
ORPHA:2215 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia, Osteoporosis, Low anterior hairline, Low posterior hairl... |
ORPHA:73272 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Micrognathia, Orofacial cleft, Atypical scarring of sk... |
ORPHA:60030 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Nephroblastoma |
OMIM:618272 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Increased urinary sulfite level, Fine hair, Decrease... |
OMIM:272300 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... |
ORPHA:1807 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Limb hypertonia, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal ... |
ORPHA:96263 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Reduced bon... |
OMIM:619322 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Abnormality of the urethra, Sca... |
ORPHA:158684 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, High palate, Neutropenia, Sparse hair, Microdontia, Calcinosis, Abno... |
ORPHA:221016 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Cowden Syndrome 6 |
|
Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Hydrocele testis... |
OMIM:615109 |
Sandhoff Disease |
|
Kyphosis, Hepatomegaly |
ORPHA:796 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss... |
OMIM:300009 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... |
ORPHA:99812 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Small hypothenar eminence, Micrognathia, Grayish enamel, High, narrow ... |
ORPHA:2980 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Malformation of the ... |
OMIM:208540 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color |
ORPHA:90037 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Osteomalacia, Recurrent fractures, Camptodactyly of finge... |
ORPHA:2176 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Highly arched eyebrow, Abnormality of the dentition, Submucous cleft h... |
ORPHA:2712 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism |
OMIM:618512 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Werner Syndrome |
|
Sparse scalp hair, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Lipodystrophy,... |
ORPHA:902 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Osteolytic defec... |
ORPHA:2484 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Left ven... |
OMIM:619148 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Sarcoma |
ORPHA:662 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Hydroureter, Highly arched ey... |
OMIM:259775 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... |
ORPHA:91138 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic ... |
ORPHA:221008 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular carcin... |
ORPHA:369 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ectopic kidney, Cryptorchidism, Hirsutism, Gingival overgrowth, Narrow... |
OMIM:235510 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Subcutaneous nodule, Gingivitis,... |
ORPHA:286 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... |
OMIM:617237 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... |
ORPHA:534 |
Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, General... |
OMIM:264700 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:600118 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Absent eyebrow, Absent eyelashes, Short upper lip, Wide mouth, Hypop... |
OMIM:200110 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Pierpont Syndrome |
|
Microphthalmia, Short stature |
OMIM:602342 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat... |
OMIM:614592 |
Scrub Typhus |
|
Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Nail dys... |
OMIM:300887 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Hype... |
OMIM:617053 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... |
ORPHA:96264 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Thyroid Lymphoma |
|
Goiter, Lymphadenopathy |
ORPHA:97285 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... |
OMIM:304790 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, High, narrow palate, Synophrys, Re... |
OMIM:122470 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:290 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... |
OMIM:606721 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... |
OMIM:613388 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Delayed eruption of permanent teeth, Camptodactyly, Micropenis, Joint contractu... |
OMIM:113000 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sparse scalp hair, Proteinuria, Sparse eyelashes, Sagittal craniosynostosis, Microgn... |
OMIM:616901 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow |
ORPHA:3406 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Inguinal hernia, Aplasia/Hypoplasia of the skin, Ca... |
ORPHA:2990 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Thin upper lip vermilion, Preauricular pit, Scapular winging, Dental crowding, Shor... |
OMIM:170390 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Lymphopenia, P... |
ORPHA:100 |
Fanconi Anemia, Complementation Group C |
|
Hypopigmented macule, Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Flexion con... |
OMIM:227645 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Crypt... |
ORPHA:2063 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Testicular neoplasm, Abnormal zygomatic bone morphology, Fibrous ... |
ORPHA:249 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:1458 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
Smith-Magenis Syndrome |
|
Precocious puberty, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Chronic active hepatitis, Hypergonadotropi... |
OMIM:203800 |
Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature |
OMIM:606744 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:611134 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Micr... |
ORPHA:85201 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
OMIM:611890 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,... |
OMIM:610253 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
OMIM:300863 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia un... |
OMIM:609638 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Micrognathia, High, narr... |
ORPHA:2780 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized am... |
ORPHA:289157 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... |
OMIM:235200 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
H Syndrome |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, Hypogo... |
ORPHA:168569 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Diastrophic Dysplasia |
|
Kyphosis, Visceral angiomatosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis... |
ORPHA:628 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Short stature, Edema |
ORPHA:2505 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Thick hair, Abnormal... |
ORPHA:769 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Camptodactyly of finger, Hypo... |
ORPHA:568 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc... |
OMIM:241530 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Epidermoid cyst, Angular cheilitis, Eruptive vellus hair cyst, Cutaneous c... |
ORPHA:2309 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Renal phosphate wasting, Renal ... |
OMIM:307800 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Decreased testicular size |
ORPHA:1875 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ... |
ORPHA:549 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal hair pattern, Abn... |
ORPHA:2315 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Cryptorch... |
ORPHA:950 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly |
OMIM:618541 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ... |
OMIM:618825 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Carious teeth, Absent paranasal ... |
OMIM:269300 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Nephropathy, Myopathy, Abnormal dental enamel morphology |
ORPHA:2238 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Brittle hair, Cari... |
OMIM:607812 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis |
OMIM:267200 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos |
OMIM:619318 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Absent eyebrow, Alopecia, Sparse eyelashes, Spa... |
OMIM:268400 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Osteomalacia, Nephrolithiasis, Hypercalciuria, Reduced bone mineral density, H... |
ORPHA:157215 |
Dent Disease |
|
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... |
ORPHA:1652 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... |
ORPHA:2686 |
Char Syndrome |
|
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Symphalangism of the ... |
ORPHA:46627 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Hirsutism, Gingival overgrow... |
ORPHA:313855 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Brittle hair, Carious teeth, Bilateral cryptorchidism, Neutropenia, Eclabion, Intrau... |
OMIM:616395 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma... |
OMIM:101800 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Hypophosphatemia, Abnormal hepatic glycogen storage, Hepatoce... |
ORPHA:2088 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... |
ORPHA:167 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Micrognathia, Hypoplasia of the max... |
OMIM:257850 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Thi... |
OMIM:309900 |
3M Syndrome |
|
Delayed eruption of teeth, Scapular winging, Hypospadias, Abnormal dental enamel morphology, Join... |
ORPHA:2616 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly |
OMIM:618234 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusio... |
OMIM:300867 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Eiken Syndrome |
|
Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio... |
OMIM:600002 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Kyphosis, Cavernous hemangioma, Breast carci... |
ORPHA:201 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Ankle flexion contracture, Elbow flexion contracture, Gingival overgrowth, Osteo... |
OMIM:618175 |
Bresek Syndrome |
|
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Epispadias, Elbow ankylosis, Bifid uvula, Abnormal pe... |
ORPHA:2658 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Rickets, Hypercalciuria |
OMIM:602722 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Recurrent fractures, Micrognathia, Abnormality of the de... |
ORPHA:2108 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Kosaki Overgrowth Syndrome |
|
Thin upper lip vermilion, Thin skin, Xanthelasma |
OMIM:616592 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Polycys... |
OMIM:608594 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Ascites |
ORPHA:36412 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Osteomalacia, Monostotic fibrou... |
ORPHA:562 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Osteoporosis, Subcutaneous ossification, Low urinary cyclic AMP respon... |
OMIM:103580 |
Werner Syndrome |
|
Hypertriglyceridemia, Hypogonadism, Elevated hemoglobin A1c |
OMIM:277700 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Cowden Syndrome 5 |
|
Kyphosis, Breast carcinoma, Hamartomatous polyposis, Hydrocele testis, Meningioma, Scoliosis, Thy... |
OMIM:615108 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Sparse eye... |
OMIM:234100 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Abnormal abdomen morp... |
OMIM:216360 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... |
OMIM:615980 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal dental mo... |
ORPHA:192 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Sacral dimple,... |
OMIM:247200 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Cryp... |
OMIM:616300 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Renal insufficiency, Foot joint contracture, Proteinuria, Delayed eruption... |
ORPHA:90321 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal hair quantity, Hydroureter, Hypospadias, Abnormal oral mucosa... |
ORPHA:289 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Cardiomegaly |
OMIM:252920 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
Gapo Syndrome |
|
Alopecia, Epidermoid cyst, Sparse eyelashes, Facial palsy, Micrognathia, Sparse eyebrow, High, na... |
OMIM:230740 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Lymphadenopathy |
ORPHA:142 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia |
ORPHA:93267 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La... |
OMIM:269700 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short stature |
OMIM:614583 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Nephrolithiasis, Nep... |
OMIM:179800 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, Renal hypoplasia, High palate, Hypodontia, Sparse hair, Vesicou... |
OMIM:616854 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal granulocyte morphology, Abno... |
ORPHA:98907 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... |
ORPHA:90033 |
Monosomy 18P |
|
Microphthalmia, Short stature, Lymphedema |
ORPHA:1598 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Cryptorchid... |
ORPHA:1647 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial palsy, Delayed eruption of permanent teeth, Broad alveolar ridges, ... |
OMIM:218400 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, A... |
ORPHA:289176 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy... |
ORPHA:77293 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... |
OMIM:260920 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Micrognathia, Low anterior hairline, High palate, Hypospadias, Crypto... |
ORPHA:235 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica... |
ORPHA:2563 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Delayed eruption of permanent teeth |
OMIM:112350 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Myelodysplasia, Kyphosis, Cryptorchidism, Scoliosis, Leukemia |
OMIM:619951 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Dental malocclusion, Thick vermilion border, High pa... |
OMIM:612921 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Low urinary cyclic AMP response to PT... |
OMIM:612462 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepatocellular adenoma, ... |
ORPHA:79259 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Recurrent aphthous st... |
OMIM:212750 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... |
OMIM:610377 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia |
OMIM:605309 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios |
OMIM:619053 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Bifid uvula, Multicystic... |
OMIM:300373 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Long penis, High palate, Advanced eruption of teeth, Hypertrichosis |
OMIM:262190 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpholog... |
ORPHA:464 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Myopathy, Aminoaciduria, Ne... |
ORPHA:213 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair |
ORPHA:2266 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... |
ORPHA:567983 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos... |
OMIM:101200 |
Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micro... |
OMIM:133540 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Joint hypermobility, Carious teeth, Widow's peak, Widel... |
OMIM:619229 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature |
ORPHA:2788 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyphosis, Medu... |
ORPHA:77301 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Short philtrum, ... |
OMIM:617337 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho... |
OMIM:305000 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2050 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Sparse hair, Highly arched eyebrow, Cleft lip, Acute lymphob... |
OMIM:280000 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Nail dystrophy, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... |
ORPHA:3214 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Hypospadias, Precocious puberty in females, ... |
ORPHA:90793 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, High palat... |
OMIM:211380 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Micropenis, Joint la... |
OMIM:268310 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Sparse scalp hair, Dorsocervical fat pad, Intra-oral hyperpigme... |
ORPHA:99889 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:352490 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Scoliosis, Short neck |
ORPHA:75840 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79409 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Long eyelashes, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia... |
ORPHA:93552 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Thrombocytopenia, Spl... |
OMIM:301072 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal p... |
ORPHA:449432 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia... |
ORPHA:520 |
Poikiloderma With Neutropenia |
|
Joint laxity, Micrognathia, Carious teeth, Joint stiffness, Sparse eyebrow, Splenomegaly, Neutrop... |
OMIM:604173 |
Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Preauricular pit, Hypospadias, Craniosynostosis, Micro... |
ORPHA:2745 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fusion, Limited kn... |
OMIM:311300 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... |
OMIM:616005 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Sacral dimple, Hypospadias, Aplast... |
OMIM:223370 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism |
ORPHA:2617 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin |
ORPHA:1643 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria... |
ORPHA:77259 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo... |
ORPHA:2136 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism |
OMIM:618484 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Lead Poisoning |
|
Delayed eruption of teeth, Cranial hyperostosis, Chronic kidney disease, Imbalanced hemoglobin sy... |
ORPHA:330015 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Long philtrum |
ORPHA:263463 |
Acrocraniofacial Dysostosis |
|
Preauricular pit, Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption... |
ORPHA:949 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... |
OMIM:300755 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Hepatitis, Lymphadenopathy, Tubulointerstitial nephritis, Neph... |
ORPHA:139402 |
Desmosterolosis |
|
Increased bone mineral density, Aplasia/Hypoplasia of the skin, Micrognathia, Splenomegaly, Submu... |
ORPHA:35107 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Osteoporosis, Polyuria, Rickets |
OMIM:560000 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... |
ORPHA:1031 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Premature graying of ha... |
OMIM:127550 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:614219 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Sparse scalp hair, Highly arched eyebrow, Thick vermilion border, Ever... |
OMIM:615866 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... |
ORPHA:293173 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... |
OMIM:214500 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis |
OMIM:615834 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:2471 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Alopecia, Scarring, Cran... |
ORPHA:79396 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Inguinal hernia, Hypospadias, Campt... |
OMIM:166250 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Incr... |
ORPHA:94089 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Short stature |
ORPHA:3191 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Vesicouret... |
ORPHA:261652 |
Familial Mediterranean Fever |
|
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic sy... |
ORPHA:342 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Rickets, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria |
OMIM:615605 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Renal insufficiency, Reduced subcutaneous adipose tissue,... |
OMIM:216400 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice... |
ORPHA:2137 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Pachyonychia Congenita 2 |
|
Natal tooth, Sparse scalp hair, Dry hair, Epidermoid cyst, Angular cheilitis, Sparse eyebrow, Nai... |
OMIM:167210 |
Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Hepatic steatosis, Elevated hemoglobin A1c |
OMIM:617253 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle,... |
OMIM:600901 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1071 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Sparse scalp hair, Hypospadias... |
ORPHA:1465 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, Sparse eyebrow, High, narrow palate, Cryptorchidism, Narrow ... |
OMIM:117550 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced te... |
OMIM:617865 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Premature ... |
ORPHA:2908 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Extramedullary hematopoiesis, Rickets, Renal cyst |
ORPHA:79303 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Skin tags, Natal tooth, Preauricular pit, Hypospadias, Craniosynostosis, Gingival overgrowth, Nar... |
OMIM:123790 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal dental enamel morphology, Slow-growing hair... |
ORPHA:1896 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Scheie Syndrome |
|
Splenomegaly, Mucopolysacchariduria, Hepatomegaly |
ORPHA:93474 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Ureteral stenosis, Micrognathia... |
OMIM:309350 |
Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Thick hair, H... |
ORPHA:198 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Lisch nodu... |
ORPHA:636 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... |
OMIM:232220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Lichen Planopilaris |
|
Alopecia, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Neoplasm of the oral cavity, Pa... |
ORPHA:525 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebra... |
ORPHA:97360 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Female external genitalia in individual with ... |
ORPHA:168558 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Rena... |
ORPHA:18 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Scarring, Supernumerary nipple, Conical tooth, Eosinophilia,... |
OMIM:308300 |
Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... |
ORPHA:1811 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria |
ORPHA:839 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Thrombocytopenia, Subcutaneous nodule, Gingival overgrowth, Reticulocy... |
ORPHA:508542 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis |
OMIM:618641 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle,... |
OMIM:227650 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Kyphosis, Decreased testicular size, Hyperlordosis |
ORPHA:3085 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Moderate albuminuria, Hydronephrosis, Delayed eruption of permanent teeth, Periodonti... |
OMIM:619269 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Female external genitalia in individual with ... |
ORPHA:289548 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Persistence of primary t... |
ORPHA:2785 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg... |
ORPHA:556 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Displacement of the urethral meatus... |
ORPHA:1556 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L... |
ORPHA:33226 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia, Polyhydramnios |
OMIM:616920 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Sparse hair, Intraut... |
ORPHA:1662 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Ric... |
OMIM:227810 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Joubert Syndrome 37 |
|
Microphthalmia, Short stature |
OMIM:619185 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Splenomegaly, Hepatomegaly |
ORPHA:53715 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Exostoses |
ORPHA:1798 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1915 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia |
OMIM:612918 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Alpha-Mannosidosis |
|
Hepatomegaly, Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Congenital alopecia totalis, Camptod... |
ORPHA:158687 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:609053 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... |
ORPHA:50918 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Proteinuria, Osteomalacia, Thrombocytopenia, Osteoarthritis,... |
OMIM:277900 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Flexion contracture, Iron deficiency anemia, Urinary bladder sphi... |
ORPHA:79408 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature |
OMIM:147250 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... |
OMIM:611881 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Skeletal muscle atrophy, Facial palsy, Carious teeth, Splenomegaly, Ab... |
ORPHA:1328 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Nevus, Carious teeth, Skin erosion, Flexion contracture, Atypical scarri... |
ORPHA:89842 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Decreased mitochondrial number, Spinal rigidity |
ORPHA:352447 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Decre... |
ORPHA:666 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... |
OMIM:300280 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Wide mouth, Sparse or absent eyelashes... |
ORPHA:1231 |
Sialidosis Type 2 |
|
Kyphosis, Hepatomegaly |
ORPHA:87876 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Camptodactyly of finger, Cryptorchidism, Su... |
OMIM:309000 |
Baraitser-Winter Syndrome 1 |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:243310 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thr... |
ORPHA:1855 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury, Anemia |
ORPHA:29073 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Persistence of hemoglobin F, Umbili... |
OMIM:619769 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Scapular winging, Block vertebrae, Tarsal synostosis, Preauric... |
OMIM:272460 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... |
OMIM:119600 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Short philtrum, High pa... |
OMIM:135900 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Oligodontia, Sparse hair, Jo... |
OMIM:305600 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:253000 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... |
ORPHA:30391 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Alopecia, Osteomalacia, Micrognathia, Cry... |
ORPHA:2636 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Hem... |
ORPHA:781 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Splenomegaly, R... |
OMIM:269860 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... |
ORPHA:449395 |
Curry-Jones Syndrome |
|
Generalized hirsutism, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Craniosynostosis |
ORPHA:1553 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Osteopenia, Normocytic anemia, Sinusitis, Osteomyelitis, Aplastic anem... |
ORPHA:811 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Osteoma cutis, Low urinary... |
ORPHA:79444 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Generalized hypopigmentation ... |
ORPHA:3322 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth |
ORPHA:236 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
Alg1-Cdg |
|
Kyphosis, Decreased liver function, Scoliosis |
ORPHA:79327 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Decreased muscle mass, Lipodystrophy, Car... |
ORPHA:2834 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma, Platyspondyly, Exostoses |
OMIM:616482 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Decreased testicular size, Cryptorchidism |
OMIM:615433 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Medullary thyroid carcinoma, Ganglioneuroma |
OMIM:162300 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation |
OMIM:617729 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:77298 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, De... |
OMIM:619503 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Abnormality of the lymphatic system, Abnormal morphology of female intern... |
ORPHA:538 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Mosaic Trisomy 9 |
|
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... |
ORPHA:99776 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Squamous cell carcinoma |
OMIM:613951 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos, Short stature |
ORPHA:369891 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia |
OMIM:302960 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464282 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia |
ORPHA:139411 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Osteoma cutis, Reduced bon... |
ORPHA:79443 |
Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele, Growth delay |
OMIM:614424 |
Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
OMIM:615663 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251230 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Inguinal hernia, Scapular winging, Join... |
OMIM:278250 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Pallister-Hall Syndrome |
|
Natal tooth, Hydroureter, Distal urethral duplication, Cleft upper lip, Ectopic kidney, Cryptorch... |
OMIM:146510 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Advanced eruption of teeth, M... |
ORPHA:818 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas... |
ORPHA:199276 |
Monosomy 22 |
|
Short neck, Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Meningioma, Sarcoma |
ORPHA:96123 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:180870 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Abnormality of the dentition, Micrognathia, Synophrys, Eru... |
ORPHA:476126 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Scoliosis |
OMIM:300602 |
Pearson Syndrome |
|
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria |
OMIM:268315 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Papillon-Lefèvre Syndrome |
|
Melanoma, Liver abscess, Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:678 |
Marden-Walker Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Graft Versus Host Disease |
|
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis |
ORPHA:39812 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
3C Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Facial hemangioma |
ORPHA:7 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Short philtrum, High palate, Micropenis, My... |
ORPHA:798 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Inguinal hernia, Joint stiffness, Carious teeth, Splenomegaly, Flexion... |
OMIM:253200 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:2510 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia |
OMIM:617244 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation |
OMIM:603467 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... |
OMIM:276700 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Kyphosis, Hepatosplenomegaly, Short neck |
OMIM:608776 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Abnormal circulating creatine kinase co... |
ORPHA:98908 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hypopigmented skin patches, Micropenis, Wide... |
ORPHA:2896 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Short stature |
OMIM:617306 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle,... |
OMIM:227646 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature |
OMIM:610758 |
Poems Syndrome |
|
Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visceromegaly, Increased ci... |
ORPHA:2905 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t... |
ORPHA:2311 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Intraute... |
ORPHA:93325 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... |
OMIM:615688 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Oral ulcer, E... |
ORPHA:79480 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Inguinal hernia, Sparse scalp hair, Urinary incontinence,... |
ORPHA:404448 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Ascites |
ORPHA:974 |
Nodular Non-Suppurative Panniculitis |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Panniculitis, Splenomegaly |
ORPHA:33577 |
Meckel Syndrome 14 |
|
Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios |
OMIM:619879 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cryptorchidism, Hypertriglyceridemia |
ORPHA:536532 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... |
ORPHA:333 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Pituitary adenoma |
OMIM:300942 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... |
ORPHA:37042 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Preauricular pit, Highly arched eyebrow, Ectopic kidney, Cryptorchidism, Widow's pea... |
ORPHA:1519 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... |
ORPHA:2751 |
Distal Triplication 15Q |
|
Hydrocele testis, Kyphosis, Nephroblastoma, Scoliosis |
ORPHA:314588 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Decreased testicular size, Cryptorchidism |
OMIM:300354 |
Schaaf-Yang Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:615547 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Accessory spleen, Camptodactyly of finger, Cl... |
OMIM:249000 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Thick eyebrow, Hypospadias, Persistence of primary teeth, Cryptorchidi... |
OMIM:300166 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... |
ORPHA:97685 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Aplasia cutis congenita, Hypersplenism, Splenomegaly, Cutis marmorata telangiect... |
OMIM:616028 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Polyhydramnios |
ORPHA:3301 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Erosion of oral mucosa, Multicystic kidney dysplasia, Hydroureter, Abnormal o... |
ORPHA:79404 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:314580 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxil... |
ORPHA:828 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614222 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki... |
OMIM:249100 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Abnormal dental ... |
ORPHA:191 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Synophrys, Low anterior hairl... |
ORPHA:199 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Preauricular pit, Absent nipple, Facial pa... |
OMIM:620186 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Low posterior hairline, ... |
OMIM:617925 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... |
OMIM:607944 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Kyphosis, Short neck |
ORPHA:3409 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Corneal scarring, Dermal atrophy, ... |
OMIM:610965 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:384 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigme... |
OMIM:219800 |
Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... |
ORPHA:3380 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly ossified vertebrae, Scle... |
ORPHA:3003 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis |
ORPHA:171436 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Dermal atrophy, ... |
ORPHA:69735 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ... |
OMIM:118450 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorchidism, Mi... |
OMIM:612651 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Cryptorchidism, Generalized joint laxity, Delayed ossific... |
OMIM:600373 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Short neck |
ORPHA:3082 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Leukocytosis, Throm... |
ORPHA:1304 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Ramon Syndrome |
|
Kyphosis, Gingival fibromatosis, Scoliosis |
OMIM:266270 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:253010 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Galloway-Mowat Syndrome 1 |
|
Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar... |
OMIM:251300 |
Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Hypocalcemia, Aplasia of the uterus, Vaginal atresia, Hypocalce... |
ORPHA:2237 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth... |
ORPHA:667 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:3121 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormal sperm morphology, Eosinophilia, Abnormality of the spleen, Mediasti... |
ORPHA:228123 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
ORPHA:35173 |
Charge Syndrome |
|
Delayed eruption of teeth, Facial palsy, Highly arched eyebrow, Cleft upper lip, Abnormal soft pa... |
ORPHA:138 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Rickets, Reduced bone mineral density, A... |
OMIM:613658 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1883 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:618443 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Papillorenal Syndrome |
|
Microphthalmia, Short stature, Edema |
OMIM:120330 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Short stature |
OMIM:612530 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Osteopenia, Sacral dimple, Aplasia cutis congenita, ... |
OMIM:300966 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:94065 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Hepatic steatosis |
ORPHA:254346 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Short stature |
OMIM:618571 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon... |
ORPHA:2839 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Hydronephrosis, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:100078 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Parotitis, Eosinophilia, Portal hypertension... |
ORPHA:797 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Dental crowding, Hypospadias, Carious teeth, Cryptorchidism, Supernume... |
ORPHA:353281 |
Poland Syndrome |
|
Short neck, Retinal hamartoma, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, Vertebral... |
ORPHA:2911 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2250 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Hematuria, Nail dystroph... |
ORPHA:79403 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Microphthalmia, Ascit... |
ORPHA:1052 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Rickets |
OMIM:612089 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral... |
OMIM:230500 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:2714 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Decreased hip abduction, Limited hip extension, Camptodactyly of finge... |
OMIM:143095 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoi... |
OMIM:253220 |
Lyme Disease |
|
Arthritis, Skin nodule, Dermal atrophy |
ORPHA:91546 |
Doors Syndrome |
|
Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, Nephrocalcinosis, Wid... |
ORPHA:79500 |
Branchiooculofacial Syndrome |
|
Micrognathia, Renal cyst, Postauricular pit, Premature graying of hair, Sparse hair, Preauricular... |
OMIM:113620 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Glabellar hemangioma |
OMIM:618223 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... |
ORPHA:536 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement |
OMIM:620233 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Cohen Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:193 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios |
ORPHA:2166 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Scoliosis |
OMIM:248800 |
Congenital Myopathy 22A, Classic |
|
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity |
OMIM:620351 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala... |
ORPHA:50945 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Joint laxity, Hypospadias, Hig... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Joint laxity, Hypospadias, Hig... |
ORPHA:353277 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal d... |
ORPHA:2556 |
Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Gm1 Gangliosidosis |
|
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Platyspondyly... |
ORPHA:354 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:254090 |
Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Polyhydramnios |
ORPHA:1692 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli... |
ORPHA:2789 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Hyponatremia, Decreased circulating cortisol level, Abnormal external genital... |
ORPHA:90794 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:364028 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated uri... |
ORPHA:653 |
Martsolf Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:212720 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short nail, Deep philtrum, Uraciluria, High palate, Long eyelashes, Op... |
ORPHA:1675 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... |
ORPHA:79078 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100082 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Skin ulce... |
ORPHA:221 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorc... |
OMIM:265000 |
Trisomy 20P |
|
Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebral segmentati... |
ORPHA:261318 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Proteinuria, Parotitis, Orchitis, S... |
ORPHA:99827 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Hepatomegaly, Hypertriglyceridemia, Macrovesicular hepatic steatosis |
OMIM:619127 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Nephrolithiasis, Delayed eruption of permanent... |
ORPHA:521445 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... |
ORPHA:331235 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail |
OMIM:601319 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Short stature |
OMIM:610651 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Scoliosis |
OMIM:617061 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Short stature |
OMIM:115470 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... |
OMIM:206900 |
Kindler Syndrome |
|
Phimosis, Carious teeth, Urethral stenosis, Spotty hypopigmentation, Gingivitis, Periodontitis, D... |
OMIM:173650 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:250989 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis |
OMIM:617190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Short stature |
OMIM:601675 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... |
ORPHA:3260 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Hypoplasia of the uterus, Abnorma... |
ORPHA:3464 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Abnormality of the gallbladder, Scoliosis, Cryptorchidism |
ORPHA:2075 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Spar... |
OMIM:181270 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... |
ORPHA:449563 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ... |
ORPHA:289390 |
Harrod Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:2115 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis |
ORPHA:96169 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Pelger-Huet Anomaly |
|
Kyphosis |
OMIM:169400 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Hig... |
OMIM:182250 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc... |
OMIM:615846 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Joint laxity, Hypospadias, Delayed epiphyseal os... |
ORPHA:93357 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... |
OMIM:256520 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s... |
ORPHA:800 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odontoid process,... |
OMIM:602535 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Abnormality of the dentition, Pyelonephritis, Du... |
ORPHA:2036 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Delayed eruption of primary teeth, Urinary retention, Widely spaced teeth, Neutr... |
OMIM:617799 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Hurler-Scheie Syndrome |
|
Kyphosis, Scoliosis, Hepatomegaly |
OMIM:607015 |
Fryns Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2059 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp... |
OMIM:614188 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Renal Fanconi s... |
ORPHA:411629 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Fucosidosis |
|
Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar vertebrae, Hepatomegaly |
ORPHA:349 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrops fetalis |
ORPHA:268249 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... |
ORPHA:564 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
Hurler Syndrome |
|
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Hepatosplenomegaly, Bicon... |
OMIM:607014 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617988 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Blau Syndrome |
|
Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality of the liver, Nephropa... |
ORPHA:90340 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
Behçet Disease |
|
Renal insufficiency, Orchitis, Splenomegaly, Lymphadenopathy, Pancreatitis |
ORPHA:117 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Kyphosis, Cryptorchidism, Abnormality of the gallbladder, Abnormal form of the ver... |
ORPHA:280 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... |
ORPHA:189427 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Cryptorchidism, Kyphosis, Capillary hemangioma, Scoliosis |
OMIM:619194 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos |
OMIM:618874 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Decreased testicular size, Scoliosis, Short neck |
ORPHA:85293 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Fanconi Anemia |
|
Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Umbilical hernia, Micr... |
ORPHA:84 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R... |
OMIM:601803 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Scoliosis, Spondylolisthesis |
OMIM:610443 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation |
OMIM:147791 |
Acute Radiation Syndrome |
|
Skin ulcer, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Joint l... |
ORPHA:821 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Asymmetric, linear skin defects, Delayed eruption of primary teeth |
OMIM:300952 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia |
ORPHA:2162 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Melanoma, Scoliosis,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Melanoma, Scoliosis,... |
ORPHA:363958 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Roberts Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios |
ORPHA:3103 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature |
ORPHA:251014 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Aplasia of the uterus |
ORPHA:3320 |
Occipital Horn Syndrome |
|
Pelvic bone exostoses, Kyphosis, Bladder carcinoma, Platyspondyly, Exostoses |
OMIM:304150 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio... |
ORPHA:261537 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Abnormality o... |
ORPHA:3339 |
Floating-Harbor Syndrome |
|
Hypospadias, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Cryptorchidi... |
ORPHA:2044 |
Kawasaki Disease |
|
Proteinuria, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Sterile pyuria, Cholecy... |
ORPHA:2331 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2479 |
Proteus Syndrome |
|
Macroorchidism, Testicular neoplasm, Retinal hamartoma, Kyphosis, Neoplasm of the thymus, Viscera... |
ORPHA:744 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Short stature |
OMIM:272950 |
Subacute Cutaneous Lupus Erythematosus |
|
Dermal atrophy, Annular cutaneous lesion, Cheilitis |
ORPHA:163525 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:2612 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Scoliosis |
OMIM:301040 |
Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:617666 |
2P15P16.1 Microdeletion Syndrome |
|
Kyphosis, Decreased testicular size, Scoliosis |
ORPHA:261349 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemi... |
OMIM:232240 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Renal insufficiency, Orchitis, Jaundice, Neutrophilia in presence o... |
ORPHA:99826 |
Noonan Syndrome 14 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:619745 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon... |
ORPHA:100079 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:261250 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio... |
ORPHA:2152 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Cryptorchidism |
OMIM:619244 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Pulmonary edema |
ORPHA:137675 |
22Q11.2 Deletion Syndrome |
|
Short stature, Spina bifida, Polyhydramnios, Meningocele, Occipital myelomeningocele, Umbilical h... |
ORPHA:567 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short stature |
OMIM:201180 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio... |
ORPHA:261552 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Spina bifida |
OMIM:109400 |
Monosomy 13Q14 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1587 |
Myhre Syndrome |
|
Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra... |
OMIM:139210 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:608670 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:500055 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Micr... |
OMIM:606170 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Decreased testicular size, Inguinal hernia, Hypospadias, Accessor... |
ORPHA:672 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Kyphosis, Hepatic fibrosis, Hepatic steatosis |
OMIM:212065 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis |
OMIM:618493 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Trichothiodystrophy |
|
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation |
ORPHA:33364 |
Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation |
OMIM:620005 |
Leptospirosis |
|
Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Acute kidney injury, ... |
ORPHA:509 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616975 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Chromosome 13Q14 Deletion Syndrome |
|
Growth delay, Microphthalmia, Umbilical hernia |
OMIM:613884 |
Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
Weaver Syndrome |
|
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism |
OMIM:277590 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... |
OMIM:618280 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Sagittal craniosynostosis, Craniosynostosis, Cleft palate, ... |
OMIM:218600 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Fontaine Progeroid Syndrome |
|
Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation |
OMIM:612289 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Epidermal nevus, Supernumerary nipple, Preauricular skin tag, A... |
OMIM:600268 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610829 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Cleft palate, Chor... |
OMIM:309801 |
Yunis-Varon Syndrome |
|
Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat... |
ORPHA:3472 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Decreased testicular size, Scoliosis, Cryptorchidism |
ORPHA:398069 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:263650 |
Microgastria-Limb Reduction Defect Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:2538 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Alexander Disease |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:58 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation |
OMIM:236680 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Elevated hepatic transaminase, Kyphosis, Jaundice, Neurofibroma, Abnormal curvature of... |
OMIM:619475 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:616894 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619005 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Aplasia of th... |
OMIM:274000 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Holoprosencephaly 7 |
|
Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Alström Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Hypergonadotropic hypogonadism... |
ORPHA:64 |
Fryns Syndrome |
|
Microphthalmia, Chylothorax, Polyhydramnios |
OMIM:229850 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Prader-Willi Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:176270 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Hepatosplenomega... |
ORPHA:3385 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Aicardi Syndrome |
|
Microphthalmia, Delayed puberty |
ORPHA:50 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Short stature, True anophthalmia |
ORPHA:1106 |
1P36 Deletion Syndrome |
|
Kyphosis, Cryptorchidism, Spinal canal stenosis, Abnormality of the liver, Scoliosis, Neuroblasto... |
ORPHA:1606 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... |
ORPHA:468631 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Hypospadias, Supernumerary nipple, Cryptorchidism, Submucous cleft har... |
OMIM:235730 |
Mend Syndrome |
|
Microphthalmia, Short stature |
ORPHA:401973 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis |
ORPHA:1507 |
Mgat2-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79329 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Short neck, Kyphosis, Biliary cirrhosis, Melanoma, Cholestatic liv... |
ORPHA:881 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Mild postnatal growth retardation |
ORPHA:90324 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Biliary tract abnormality, Abnormal fo... |
OMIM:194190 |
Degcags Syndrome |
|
Microphthalmia, Polyhydramnios, Intrauterine growth retardation |
OMIM:619488 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Osteomalacia, Myocardial calcification, Abnormal calcification of the carpal b... |
ORPHA:51608 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave verteb... |
ORPHA:955 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Kyphosis, Scoliosis, Hepatomegaly |
ORPHA:394 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:619123 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Scoliosis |
OMIM:618050 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Kyphosis, Abnormality of the cervical spine, Scoliosis, Cryptorchidism |
ORPHA:464311 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:619718 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis |
OMIM:617527 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis |
ORPHA:521426 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Scoliosis, Cryptorchidism |
ORPHA:464306 |
X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, Intrauterine grow... |
OMIM:613406 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia |
OMIM:619539 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Short stature |
OMIM:616734 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... |
ORPHA:508488 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... |
OMIM:214800 |
Somatomammotropinoma |
|
Kyphosis, Pituitary adenoma, Spinal canal stenosis, Pituitary prolactin cell adenoma, Pituitary g... |
ORPHA:314769 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Kyphosis, Lumbar hyperlordosis, Cryptorchidism |
ORPHA:2232 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Acromegaly |
|
Kyphosis, Pituitary prolactin cell adenoma, Spinal canal stenosis, Pituitary growth hormone cell ... |
ORPHA:963 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis |
OMIM:619708 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1969 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... |
ORPHA:3042 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of verte... |
OMIM:208400 |
Renpenning Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:309500 |
Zttk Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Absent gallbladder |
OMIM:617140 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:457359 |
Mucolipidosis Type Ii |
|
Kyphosis, Hepatosplenomegaly |
ORPHA:576 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Kyphosis, Sacral dimple, Scoliosis, Cryptorchidism |
ORPHA:268261 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Cryptorchidism |
OMIM:300960 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia |
OMIM:130050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism |
OMIM:300967 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Holoprosencephaly 1 |
|
Microphthalmia, Short stature |
OMIM:236100 |
Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, Severe intrauterine growth r... |
OMIM:268300 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty |
ORPHA:649 |
Marfan Syndrome |
|
Kyphosis, Scoliosis, Spondylolisthesis |
ORPHA:558 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Increased nuchal translucency |
OMIM:617635 |
Williams Syndrome |
|
Sacral dimple, Hyperlordosis, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Ve... |
ORPHA:904 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... |
ORPHA:2273 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Kyphosis, Butterfly vertebrae, Scoliosis |
OMIM:619472 |
Townes-Brocks Syndrome |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:857 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Cryptorchidism, Scoliosis |
ORPHA:502434 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Irregular vertebral endplates, Posterior scal... |
OMIM:259050 |
Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia |
OMIM:309800 |
Yunis-Varon Syndrome |
|
Kyphosis, Anterior concavity of thoracic vertebrae, Cryptorchidism |
OMIM:216340 |