Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Enamel-Renal Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... |
ORPHA:1031 |
Jalili Syndrome |
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Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Ameloonychohypohidrotic Syndrome |
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Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
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Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Localized Junctional Epidermolysis Bullosa |
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Dental enamel pits, Abnormality of dental color, Enamel hypoplasia |
ORPHA:251393 |
Usher Syndrome Type 2 |
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Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Naegeli-Franceschetti-Jadassohn Syndrome |
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Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Andersen-Tawil Syndrome |
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Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Chronic ki... |
ORPHA:85445 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Den Hoed-De Boer-Voisin Syndrome |
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Delayed eruption of teeth, Recurrent urinary tract infections, Carious teeth, Widely spaced teeth... |
OMIM:619229 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Micrognathia |
OMIM:618272 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Cholelithiasis,... |
OMIM:263700 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Widely spaced tee... |
OMIM:253000 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Widely spaced tee... |
OMIM:253010 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... |
ORPHA:59303 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Macroglossia, Leukopenia, Nephrotic sy... |
OMIM:617303 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc... |
ORPHA:251004 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Splenomegaly, Oral ulce... |
OMIM:232220 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythrodontia, Splenomegaly, Red-brown urine, Red urine, Erythroid hyperplasia,... |
ORPHA:95159 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Red-brown urine, Po... |
ORPHA:79277 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Cryptorchidism, Hypospadias |
OMIM:101805 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Micrognathia, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal liv... |
OMIM:608022 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Enamel hypoplasia, Urethral stricture, Anemia |
OMIM:226670 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa... |
OMIM:612714 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg... |
ORPHA:666 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Nephrocalcinosis, Periodontitis, Hepatic steatosis, Tubulointerstitial fi... |
ORPHA:79259 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Oslam Syndrome |
|
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Cleft upper lip, Gingival overgrowth, Hepatosplenom... |
ORPHA:168569 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorchidism, Mi... |
OMIM:612651 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hyperphosphaturia, Medullary nephrocalcinosis, Hypoplasia of teeth |
OMIM:613312 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Velop... |
OMIM:613680 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... |
OMIM:276700 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Macrogloss... |
ORPHA:505248 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... |
OMIM:130650 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca... |
OMIM:232200 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Micropenis, Bifi... |
OMIM:613091 |
Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Hepatomegaly, Hypoplasia of the bladder, Hepatic cys... |
ORPHA:79328 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Decreased response to growth hormon... |
OMIM:615873 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ... |
OMIM:194080 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma,... |
ORPHA:116 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... |
ORPHA:276280 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Bone marrow hypocellularity, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Micrognathia, Cardiomegaly, Splenomegaly, Gingival overgrowth, Wide mouth, Macroglo... |
OMIM:252500 |
Ogden Syndrome |
|
Micrognathia, Cardiomegaly, Microvesicular hepatic steatosis, Deep philtrum, Iron deficiency anem... |
OMIM:300855 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... |
ORPHA:64 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr... |
ORPHA:500095 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Renal cyst, Hepatoblastoma, Exaggerated median tongue furrow, Hepatomegaly... |
OMIM:312870 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... |
OMIM:306955 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Thick vermilion bor... |
ORPHA:508 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusion, Enlarged kid... |
OMIM:618280 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia |
OMIM:180920 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Spleno... |
ORPHA:744 |