| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Hyperphosphatemia, Wide nasal bridge |
OMIM:614207 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Pulp calcification, Enamel hypoplasia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Calvarial osteosclerosis, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth |
OMIM:612462 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... |
ORPHA:94089 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth |
OMIM:103580 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia |
ORPHA:89937 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Sanjad-Sakati Syndrome |
|
Micrognathia, Hypocalcemia, Hyperphosphatemia, Abnormal dental enamel morphology |
ORPHA:2323 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Hypocalcemic tetany, Hyperphosphatemia, Calvarial os... |
ORPHA:93325 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Delayed eruption of teeth, Hypoplasia of the maxilla, Hyperphosphatemia, Man... |
OMIM:101800 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... |
ORPHA:79444 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemi... |
ORPHA:79443 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... |
OMIM:619743 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... |
ORPHA:466650 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... |
ORPHA:340 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Malar flattening, Absent/hypoplastic paranasal sinuses, Hypoplasia of the nasal bon... |
ORPHA:280651 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
| Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Wide nasal bridge, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia,... |
OMIM:277440 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Advanced eruption of teeth, ... |
OMIM:262190 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Short nose, Hypoplasia of the maxilla |
ORPHA:1248 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calci... |
OMIM:307800 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Malar flattening, Retrognathia, Micrognathia, Microcytic anemia, HbH hemoglobin, Wide nasal bridge |
ORPHA:98791 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla |
OMIM:608432 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Hypoplasia of the maxilla |
ORPHA:1529 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
| 20P12.3 Microdeletion Syndrome |
|
Malar flattening, Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:261295 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Hypophosphatemia, Delayed eruption of teeth, Hypocalcemic seizures |
OMIM:264700 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:601809 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93950 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2776 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla |
OMIM:246560 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Prominence of the premaxilla |
OMIM:137550 |
| Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
| Stickler Syndrome Type 1 |
|
Short nose, Hypoplasia of the maxilla |
ORPHA:90653 |
| Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla |
OMIM:259610 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Wide nasal bridge, Prominence of the premaxilla |
ORPHA:2412 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:601216 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
| Mandibulofacial Dysostosis With Alopecia |
|
Micrognathia, Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Wide nasal b... |
OMIM:616367 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Micrognathia, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic seizures |
ORPHA:289157 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Retrognathia, Micrognathia, Persistence of hemoglobin F, Macro... |
OMIM:612561 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Malan Syndrome |
|
Retrognathia, Advanced eruption of teeth, Short nose, Hyperplasia of the premaxilla, Mandibular p... |
OMIM:614753 |
| Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Hype... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Decreased mean corpuscular volume, Anemia of inadequate production, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, ... |
OMIM:614886 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241530 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:218000 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla |
OMIM:156510 |
| Frontonasal Dysplasia 1 |
|
Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:136760 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
| Raine Syndrome |
|
Hypophosphatemia, Malar flattening, Micrognathia, Enamel hypoplasia, Short nose, Natal tooth, Man... |
OMIM:259775 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hypouricemia |
OMIM:616026 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
| Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Leukopenia, Hypoplasia of the m... |
OMIM:216550 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:166300 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cleft Lip/Palate |
|
Dental malocclusion, Agenesis of lateral incisor, Abnormality of dental eruption, Hypoplasia of t... |
ORPHA:199306 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Short nose, Hypoplasia of the maxilla, Malar flattening |
ORPHA:79113 |
| Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:241310 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the maxilla |
OMIM:618737 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Abnormal facial skeleton morphology, Abnormal mandible morphology, Abnormal zyg... |
ORPHA:249 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
| Wolcott-Rallison Syndrome |
|
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
| Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Wide nasal bridge |
ORPHA:915 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short man... |
OMIM:170390 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Long nose, Micrognathia,... |
OMIM:257850 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1540 |
| Pde4D Haploinsufficiency Syndrome |
|
Malar flattening, Micrognathia, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, Abn... |
ORPHA:439822 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla |
ORPHA:85279 |
| Acrodysostosis |
|
Delayed eruption of teeth, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, Wide nas... |
ORPHA:950 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Mccune-Albright Syndrome |
|
Dental malocclusion, Hypophosphatemia, Abnormal facial skeleton morphology, Pancytopenia |
ORPHA:562 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:167730 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Lowry-Maclean Syndrome |
|
Retrognathia, Micrognathia, Short nose, Hypoplasia of the maxilla, Talon cusp, Delayed eruption o... |
ORPHA:2409 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
ORPHA:93262 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short nose, Hypoplasia of the maxilla |
OMIM:614261 |
| Lujan-Fryns Syndrome |
|
Micrognathia, Hypoplasia of the maxilla |
ORPHA:776 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Delayed eruption of teeth |
OMIM:601812 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Neutropenia, Splenomegaly, Anemia, H... |
ORPHA:699 |
| Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia |
ORPHA:514 |
| Opsismodysplasia |
|
Short nose, Hypophosphatemia |
OMIM:258480 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Retrognathia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, ... |
OMIM:141750 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
| Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... |
ORPHA:79102 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hypophosphatemic Rickets |
|
Hypophosphatemia, Periapical tooth abscess, Craniofacial asymmetry, Odontodysplasia, Craniofacial... |
ORPHA:437 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Splenomegaly, Delayed eruption of teeth, Anemia |
ORPHA:667 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Marshall Syndrome |
|
Malar flattening, Micrognathia, Hypoplasia of the zygomatic bone, Hypoplastic frontal sinuses, Sh... |
ORPHA:560 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Hypoplasia of the maxilla |
ORPHA:293939 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2662 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Dental malocclusion, Persistence of primary teeth, Micrognathia, Hepato... |
ORPHA:763 |
| Lead Poisoning |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Delayed eruptio... |
ORPHA:330015 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
| Atelosteogenesis, Type Iii |
|
Micrognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:108721 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... |
OMIM:301074 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:601499 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Taurodontia, Hypoammonemia, Micrognathia, Delayed eruption of teet... |
ORPHA:534 |
| X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
| X-Linked Hypophosphatemia |
|
Tooth abscess, Abnormal dentin morphology, Hypophosphatemia, Odontodysplasia |
ORPHA:89936 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
| Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:782 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia, Mandibular pain |
ORPHA:99880 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:207 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... |
ORPHA:2298 |
| 8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:178303 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... |
ORPHA:3337 |
| Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia, Mandibular pain |
ORPHA:143 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemic rickets, Delayed eruption of teeth, Renal hypophosphatemia |
ORPHA:289176 |
| Nablus Mask-Like Facial Syndrome |
|
Retrognathia, Short nose, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:608156 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla |
ORPHA:228396 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Splenomegaly |
OMIM:608149 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Micrognathia, Leukop... |
ORPHA:124 |
| Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Short nose, Hypoplasia of the maxilla |
OMIM:101600 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Short nose, Hypoplasia of the maxilla, Talon cusp |
ORPHA:363417 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Type I diabetes mellitus |
ORPHA:3044 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Carpenter Syndrome 1 |
|
Persistence of primary teeth, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Polysplenia |
OMIM:201000 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Malar flattening, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Short nose, ... |
OMIM:301040 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Short nose, Malar flattening, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:271960 |
| Dent Disease |
|
Elevated circulating creatine kinase concentration, Renal hypophosphatemia |
ORPHA:1652 |
| Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Splenomegaly, Decreased ... |
OMIM:219800 |
| Van Maldergem Syndrome 2 |
|
Dental malocclusion, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:615546 |
| Aarskog-Scott Syndrome |
|
Short nose, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:305400 |
| Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone |
ORPHA:245 |
| Van Maldergem Syndrome 1 |
|
Dental malocclusion, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:601390 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Long nose, Micrognathia, Hypoplasia of the maxilla |
OMIM:309520 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia |
ORPHA:86843 |
| Andersen-Tawil Syndrome |
|
Persistence of primary teeth, Micrognathia, Wide nasal bridge, Hypoplasia of the maxilla, Abnorma... |
ORPHA:37553 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Persistence of primary teeth |
OMIM:619769 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia |
ORPHA:1307 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla |
OMIM:619142 |
| Dysostosis, Stanescu Type |
|
Hypoplasia of the zygomatic bone, Hypoplasia of the maxilla, Abnormal dental enamel morphology, C... |
ORPHA:1798 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... |
ORPHA:911 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:106260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla |
OMIM:300534 |
| Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Lymphopenia |
OMIM:158350 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia |
OMIM:229600 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Short nose, Hyperglycemia |
ORPHA:79134 |
| Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:105830 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of teeth, Advanced eruptio... |
ORPHA:192 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch |
OMIM:616462 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla |
ORPHA:481152 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:123500 |
| Cohen Syndrome |
|
Micrognathia, Neutropenia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone |
ORPHA:193 |
| Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:613804 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short nose, Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine |
ORPHA:79345 |
| Treacher-Collins Syndrome |
|
Malar flattening, Retrognathia, Micrognathia, Hypoplasia of the thymus, Wide nasal bridge, Hypopl... |
ORPHA:861 |
| Cerebrofacioarticular Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:314679 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Hypoplasia of the maxilla |
OMIM:211370 |
| Mohr Syndrome |
|
Micrognathia, Agenesis of central incisor, Hypoplasia of the maxilla, Malar flattening |
OMIM:252100 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:231070 |
| Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:615108 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
| Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:212720 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia |
ORPHA:2975 |
| Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:615109 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Dyskeratosis Congenita |
|
Taurodontia, Splenomegaly, Carious teeth, Abnormality of neutrophils, Hypoplasia of the maxilla, ... |
ORPHA:1775 |
| Elsahy-Waters Syndrome |
|
Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Delayed eruption of t... |
OMIM:211380 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of teeth, Hypoplasia of the maxilla, Delayed eruption of teeth, Carious teeth |
ORPHA:50814 |
| Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:609460 |
| Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth |
ORPHA:87 |
| 3Mc Syndrome 2 |
|
Wide nasal bridge, Prominence of the premaxilla |
OMIM:265050 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:613805 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2095 |
| Marshall-Smith Syndrome |
|
Microretrognathia, Short mandibular rami, Retrognathia, Prominence of the premaxilla, Short nose |
OMIM:602535 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Recurrent sinusitis, Short nose, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:213980 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Frontorhiny |
|
Hypoplastic frontal sinuses, Hypoplasia of the maxilla |
ORPHA:391474 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2399 |
| Rapp-Hodgkin Syndrome |
|
Hypoplasia of the maxilla |
OMIM:129400 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Micrognathia, Hypoplasia of the maxilla |
OMIM:182212 |
| Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Microretrognathia |
OMIM:613803 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Delayed eruption of teeth |
OMIM:259600 |
| Shprintzen-Goldberg Syndrome |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla |
ORPHA:2462 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Splenomegaly, Leukopenia, N... |
ORPHA:50918 |
| Barber-Say Syndrome |
|
Dental malocclusion, Micrognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Mandibul... |
OMIM:209885 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Hypoplasia of the maxilla |
ORPHA:238468 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Wide nasal bridge, Aplasia/Hypoplasia ... |
ORPHA:306542 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:794 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Taurodontia, Hypoplasia of the maxilla |
OMIM:305100 |
| Greenberg Dysplasia |
|
Retrognathia, Micrognathia, Hepatosplenomegaly, Hypoplasia of the maxilla |
OMIM:215140 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis |
ORPHA:2588 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental malocclusion, Retrognathia, Micrognathia, Accessory spleen, Enamel hypoplasia, Hypoplasia ... |
OMIM:180849 |
| Van Den Ende-Gupta Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:600920 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1101 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Mandibular aplasia |
ORPHA:2554 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, Hypoplasia of the maxilla, A... |
OMIM:610829 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Short nose, Hypoplasia of the maxilla |
OMIM:263650 |
| Distal Monosomy 19P13.3 |
|
Hypoplasia of the maxilla |
ORPHA:96129 |
| Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:224690 |
| Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla |
OMIM:277600 |
| Stickler Syndrome |
|
Malar flattening, Micrognathia, Advanced eruption of teeth, Short nose, Hypoplasia of the maxilla... |
ORPHA:828 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Abnormal dentin morphology, Hypoplasia of the maxilla, Carious teeth |
ORPHA:1299 |
| Zttk Syndrome |
|
Short nose, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:617140 |
| Aarskog Syndrome, Autosomal Dominant |
|
Hypoplasia of the maxilla, Wide nasal bridge, Macrocytic anemia |
OMIM:100050 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Retrognathia, Micrognathia, Hepatosplenomegaly, Hypoplasia of the maxilla, Mandibular prognathia,... |
ORPHA:96334 |
| Aicardi Syndrome |
|
Prominence of the premaxilla |
ORPHA:50 |
| Aicardi Syndrome |
|
Prominence of the premaxilla |
OMIM:304050 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla |
OMIM:608328 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:139210 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Micrognathia, Prominence of the premaxilla |
OMIM:614437 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla |
ORPHA:1106 |
| Saethre-Chotzen Syndrome |
|
Long nose, Malar flattening, Hypoplasia of the maxilla, Cleft of chin |
OMIM:101400 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone |
ORPHA:920 |
| Primrose Syndrome |
|
Glucose intolerance, Malar flattening, Elevated alpha-fetoprotein, Increased size of the mandible... |
OMIM:259050 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:180500 |
| Floating-Harbor Syndrome |
|
Long nose, Hypoplasia of the maxilla, Persistence of primary teeth, Carious teeth |
ORPHA:2044 |
| Craniosynostosis And Dental Anomalies |
|
Dental malocclusion, Supernumerary tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, M... |
OMIM:614188 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplasia of the maxilla, Malar flattening, Carious teeth |
OMIM:604292 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplasia of the maxilla, Malar flattening, Carious teeth |
OMIM:129900 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Short nose, Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:500150 |
| Peters-Plus Syndrome |
|
Agenesis of maxillary lateral incisor, Conical incisor, Micrognathia, Hypoplasia of the maxilla |
OMIM:261540 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the tooth germ, Eruption failure, Hypoplasia of the maxilla, Carious teeth |
OMIM:182250 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
| Craniofacial Microsomia |
|
Micrognathia, Maxillozygomatic hypoplasia, Hypoplasia of the maxilla, Malar flattening |
OMIM:164210 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Malar flattening |
OMIM:157170 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Nephrotic Syndrome, Type 24 |
|
|
OMIM:619263 |
