| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:612462 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Calvarial osteosclerosis, Hypercalcemia |
OMIM:617994 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Delayed eruption of teeth |
OMIM:103580 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Micrognathia |
OMIM:241410 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Calv... |
ORPHA:93325 |
| Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Micrognathia |
ORPHA:2323 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enam... |
ORPHA:94089 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... |
OMIM:101800 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enam... |
ORPHA:79444 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, ... |
OMIM:620157 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enam... |
ORPHA:79443 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Wide nasal bridge, Hypophosphatemia, Enamel hypoplasia,... |
OMIM:277440 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabe... |
OMIM:262190 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia |
OMIM:300946 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short nose |
ORPHA:1248 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Enamel hypomineralization, ... |
OMIM:307800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures |
OMIM:264700 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Micrognathia, Microcytic anemia, Wide nasal bridge, Malar flattening, Retrognathia, HbH hemoglobin |
ORPHA:98791 |
| 20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Wide nasal bridge |
ORPHA:261295 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Short nose |
ORPHA:1529 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Short nose |
OMIM:137550 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93950 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2776 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla, Wide nasal bridge |
ORPHA:2412 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla |
OMIM:246560 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... |
OMIM:614753 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose |
ORPHA:90653 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b... |
OMIM:616367 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Micrognathia, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures |
ORPHA:289157 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Persistence of hemoglobin F, Increased mean corpuscular volume, ... |
OMIM:612561 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Prominence of the premaxilla, Wide nasa... |
OMIM:614886 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla |
OMIM:156510 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Micrognathia, Hypophosphatemia, Malar flattening, Short nose,... |
OMIM:259775 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal bridge |
OMIM:136760 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Short nose, Wide nasal bridge |
OMIM:218000 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:241310 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal ... |
ORPHA:249 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Short nose, Micrognathia |
ORPHA:79113 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla |
OMIM:618737 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Leukopenia, Neutropenia, Macrodontia of permanent maxill... |
OMIM:216550 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Pro... |
OMIM:170390 |
| Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge, Delayed eruption of teeth |
ORPHA:915 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Dental malocclusion, Abnormal facial skeleton morphology, Hypophosphatemia |
ORPHA:562 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla |
ORPHA:85279 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:167730 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1540 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:439822 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Long nose, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Wide nasal bridge, S... |
ORPHA:950 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Retrognathia, Micrognathia |
OMIM:617101 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Short nose |
OMIM:122880 |
| Opsismodysplasia |
|
Short nose, Hypophosphatemia |
OMIM:258480 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Short nos... |
ORPHA:2409 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
ORPHA:93262 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hypokalemi... |
ORPHA:699 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Lujan-Fryns Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
ORPHA:776 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2662 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Prominence of the premaxilla, Delayed eruption of permanent teeth, Anemia |
OMIM:620370 |
| Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal bridge, Hypoplas... |
ORPHA:560 |
| Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Short nose |
OMIM:614261 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Mandibular prognathia, Delayed eruption of teeth, Hypoammonemia, Abnormal dental en... |
ORPHA:534 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... |
ORPHA:763 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Lead Poisoning |
|
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthes... |
ORPHA:330015 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:601499 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:108721 |
| Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:782 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Micrognathia, Thrombocytopenia, Persistenc... |
OMIM:617052 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Renal hypophosphatemia, Hypophosphatemic rickets, Hypocalcemic tetany,... |
ORPHA:289176 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Tooth abscess, Abnormal dentin morphology, Hypophosphatemia |
ORPHA:89936 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:207 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short nose |
OMIM:101600 |
| 8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:178303 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla |
ORPHA:228396 |
| Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Splenomegaly, Retrognathia, Micrognathia |
OMIM:608149 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Erythroid hypoplasia, Reticulocytope... |
ORPHA:124 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Hypoplasia of the maxilla, Short nose, Talon cusp, Micrognathia |
ORPHA:363417 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Mandibular pain, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Parathyroid Carcinoma |
|
Mandibular pain, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Short nose, Wide nasal bridge |
OMIM:305400 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
| Carpenter Syndrome 1 |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Polysplenia, Malar flattening |
OMIM:201000 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:245 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... |
OMIM:219800 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Reduced alpha/beta synthesis ratio, Hypochromic mi... |
OMIM:301040 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Persistence of primary teeth |
OMIM:619769 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi... |
ORPHA:37553 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Long nose, Hypoplasia of the maxilla, Micrognathia |
OMIM:309520 |
| Dysostosis, Stanescu Type |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Abnormal dental ename... |
ORPHA:1798 |
| Van Maldergem Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Malar flattening |
OMIM:601390 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... |
OMIM:617718 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla |
OMIM:619142 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia |
ORPHA:1307 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla |
ORPHA:481152 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:106260 |
| Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Lymphopenia, Micrognathia |
OMIM:158350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia |
OMIM:300534 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Micrognathia |
OMIM:616462 |
| Van Maldergem Syndrome 2 |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Malar flattening |
OMIM:615546 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruptio... |
ORPHA:192 |
| Cohen Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Neutropenia |
ORPHA:193 |
| Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:105830 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Short nose, Retrognathia |
OMIM:601812 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Cerebrofacioarticular Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge, Micrognathia |
ORPHA:314679 |
| Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:613804 |
| Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:123500 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Short nose, Hypoplasia of the anterior nasal spine |
ORPHA:79345 |
| Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Hy... |
ORPHA:861 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:231070 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth |
ORPHA:50814 |
| Mohr Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Agenesis of central incisor, Micrognathia |
OMIM:252100 |
| Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615108 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Martsolf Syndrome 1 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:212720 |
| Rapp-Hodgkin Syndrome |
|
Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth |
OMIM:129400 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Thrombocytopenia, Splenomegaly, Carious te... |
ORPHA:1775 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615109 |
| Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, Short nose, Retrognathia, Wide nasal bridge |
OMIM:608156 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Reticulocytopenia, Persistence of... |
OMIM:105650 |
| Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth |
ORPHA:87 |
| Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Short mandibular rami, Short nose, Retrognathia |
OMIM:602535 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... |
OMIM:211380 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Ma... |
OMIM:166250 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:251061 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2095 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Wide nasal bridge |
OMIM:265050 |
| Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:613805 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Recurrent sinusitis, Short nose |
OMIM:213980 |
| Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses |
ORPHA:391474 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2399 |
| Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:609460 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia |
OMIM:182212 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia |
OMIM:259600 |
| Shprintzen-Goldberg Syndrome |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia |
ORPHA:2462 |
| Meier-Gorlin Syndrome 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Micrognathia |
OMIM:613803 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... |
OMIM:209885 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia, Lymphocy... |
ORPHA:50918 |
| Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Sinusitis |
ORPHA:238468 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Wide nasal bridge, Hypoplas... |
ORPHA:306542 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:794 |
| Greenberg Dysplasia |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Hepatosplenomegaly |
OMIM:215140 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Thrombocytopeni... |
OMIM:619991 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Hypoplasia of the maxilla, Short nose, Taurodontia |
OMIM:305100 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Dental malocclusion, Wide ... |
OMIM:180849 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis |
ORPHA:2588 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion... |
OMIM:610829 |
| Van Den Ende-Gupta Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:600920 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of the maxilla, Retrognathia, Mandibular aplasia, Micrognathia |
ORPHA:2554 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplasia of the maxilla, Short nose, Micrognathia |
OMIM:263650 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1101 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla |
ORPHA:96129 |
| Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla |
OMIM:277600 |
| Meier-Gorlin Syndrome 1 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:224690 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Advanced eruption of ... |
ORPHA:828 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Carious teeth, Abnormal dentin morphology |
ORPHA:1299 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Short nose, Wide nasal bridge |
OMIM:617140 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Hepatosplenome... |
ORPHA:96334 |
| Aicardi Syndrome |
|
Prominence of the premaxilla |
ORPHA:50 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:1106 |
| 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 |
|
Prominence of the premaxilla, Micrognathia |
OMIM:614437 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone |
ORPHA:920 |
| Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Cleft of chin, Malar flattening |
OMIM:101400 |
| Primrose Syndrome |
|
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Hypoplasia of the maxill... |
OMIM:259050 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:617402 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplasia of the maxilla, Malar flattening, Carious teeth |
OMIM:604292 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:180500 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplasia of the maxilla, Malar flattening, Carious teeth |
OMIM:129900 |
| Floating-Harbor Syndrome |
|
Long nose, Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth |
ORPHA:2044 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... |
OMIM:614188 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Short nose, Wide nasal bridge |
ORPHA:500150 |
| Peters-Plus Syndrome |
|
Hypoplasia of the maxilla, Conical incisor, Agenesis of maxillary lateral incisor, Micrognathia |
OMIM:261540 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Eruption failure, Hypoplasia of the tooth germ, Carious teeth |
OMIM:182250 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of the maxilla, Malar flattening, Maxillozygomatic hypoplasia, Micrognathia |
OMIM:164210 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
| Holoprosencephaly 2 |
|
Malar flattening, Aplasia of the premaxilla |
OMIM:157170 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Nephrotic Syndrome, Type 24 |
|
|
OMIM:619263 |
