Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kid... |
OMIM:184260 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Patent ductus arteriosus, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia |
ORPHA:1816 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph... |
ORPHA:839 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Recurrent respiratory infections, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... |
ORPHA:3270 |
Stimmler Syndrome |
|
Microdontia, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Enamel hypoplasia, Carious teeth |
OMIM:226670 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of permanent teeth, Periodontitis, Prem... |
OMIM:619269 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Recurrent upper respiratory tract infections, Abnormal renal morpholog... |
ORPHA:99329 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Renal agenesis, Micrognathia, Ectopic kidney, Renal hypoplasia... |
OMIM:212780 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Recurrent respiratory infections, Enamel hypoplasia |
ORPHA:2643 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Osteogenesis Imperfecta, Type Xiii |
|
Long philtrum, Thin vermilion border, Dentinogenesis imperfecta, Enuresis nocturna |
OMIM:614856 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel |
OMIM:203550 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta |
OMIM:229200 |
Hypophosphatasia, Childhood |
|
Carious teeth, Elevated urine pyrophosphate, Phosphoethanolaminuria, Premature loss of primary teeth |
OMIM:241510 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Ureteral stenosis, Unilateral cleft palate, Abnormality of the dentition, ... |
ORPHA:1299 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Renal hypoplasia/aplasia, P... |
ORPHA:2863 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia |
OMIM:226700 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Micrognathia, Carious teeth, Pierre-Robin sequence, Cle... |
OMIM:618363 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypo... |
OMIM:613823 |
Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Abnormality of the urinary system, Oral mucosal blisters |
ORPHA:79405 |
Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Osteogenesis Imperfecta, Type X |
|
Micrognathia, Recurrent pneumonia, Nephrolithiasis, Malar flattening, Dentinogenesis imperfecta |
OMIM:613848 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Mulibrey Nanism |
|
Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malo... |
OMIM:253250 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Abnormality of the urinary system, Oral mucosal blisters |
ORPHA:79406 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycys... |
ORPHA:1988 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Hypospadias |
OMIM:101805 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Abnormality of the urinary system, Oral mucosal blisters |
ORPHA:79411 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria |
ORPHA:375 |
Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Nephrocalcinosis, Oligodontia, Microdontia, Enamel hypoplasia, Retr... |
ORPHA:557003 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Renal phosphate wasting, Hypocalciuria, Tooth abscess, Abnormal dentin morphology |
ORPHA:89936 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, T... |
OMIM:619980 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, High palate, Ever... |
OMIM:619736 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology |
ORPHA:2238 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee... |
OMIM:619797 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hyperphosphaturia, Medullary nephrocalcinosis, Hypoplasia of teeth |
OMIM:613312 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Abnormality of the urinary system, Enam... |
ORPHA:79409 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Hypospadias, Exaggerated cupid's bo... |
OMIM:619293 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus |
ORPHA:99811 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia |
ORPHA:251393 |
Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Paten... |
OMIM:613680 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Tooth agenesis, Microdontia |
ORPHA:633 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormality ... |
ORPHA:1133 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Mody |
|
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... |
ORPHA:552 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite... |
OMIM:272300 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
OMIM:616367 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia |
OMIM:270200 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
Osteogenesis Imperfecta, Type Vii |
|
Hypoplastic pulmonary veins, Absent pulmonary artery, Hydronephrosis, Long philtrum, Dentinogenes... |
OMIM:610682 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Broad jaw, Abno... |
ORPHA:10 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Repeated pneumothoraces, Micrognathia, Carious teeth, Atelectasis, High palate, P... |
ORPHA:536467 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Hydronephrosis, Hematuri... |
ORPHA:79403 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Malar flatten... |
OMIM:618874 |
Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta |
OMIM:616507 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Renal cyst |
OMIM:605231 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Delayed eruption of teeth |
OMIM:617105 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Oligosacchariduria, Macroglossia, High palate, Thick ... |
OMIM:616354 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration |
OMIM:612462 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Enamel hypoplasia |
OMIM:612843 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion b... |
OMIM:619184 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Velopharyngeal insufficie... |
OMIM:129400 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Ureteral duplication, Renal insufficiency, Renal dysplasia, Hypoglycemia... |
OMIM:608836 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Abnormal lung lobation, Narrow palate, Aplasia/Hypoplas... |
ORPHA:2063 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration |
OMIM:103580 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial nephritis |
OMIM:616901 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopathy, Hyperechogenic kidneys... |
OMIM:614576 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, Long penis, High palate |
OMIM:262190 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Abnormality of dental color |
ORPHA:1006 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Polycystic ki... |
ORPHA:2237 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, High palate, Persistence of primary teeth |
OMIM:147060 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Seckel Syndrome 1 |
|
Hypospadias, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Cleft ... |
OMIM:210600 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria... |
ORPHA:26791 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Protruding tongue, Gingival overgr... |
OMIM:259775 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia... |
ORPHA:90322 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Scarf Syndrome |
|
Perineal hypospadias, Long philtrum, Micropenis, Enamel hypoplasia, Hypocalcification of dental e... |
ORPHA:3134 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, Taurodontia, High palate, Widely spaced teeth |
OMIM:618205 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Recurrent respiratory infections, U-Shaped upper lip vermilion, Natal toot... |
OMIM:610253 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... |
OMIM:208540 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Pycnodysostosis |
|
Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of primary teeth, Micr... |
ORPHA:763 |
Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta |
OMIM:610915 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Craniofacial hyperostosis, Micrognat... |
ORPHA:2484 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Carious teeth, Enamel hypoplasia, Abnormality of the urinary system, Oral mucosal blisters |
ORPHA:79410 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Impaired glucose toleranc... |
OMIM:137920 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Xerostomia, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... |
ORPHA:137834 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:1458 |
Ohdo Syndrome |
|
Proteinuria, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narro... |
OMIM:249620 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Patent ductus arteriosus, Thick vermilion b... |
ORPHA:46627 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Abnorm... |
ORPHA:666 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Patent ductus arteriosus, Submucous clef... |
ORPHA:2712 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:3253 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
Brachydactyly, Type B1 |
|
Micropenis, Delayed eruption of permanent teeth |
OMIM:113000 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Patent ductus arteriosus, Recurrent upper respirat... |
OMIM:619769 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Hypoplasia of penis, Delayed eruption of... |
ORPHA:96263 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Micrognathia, Patent ductus arteriosus, Abnormal pulmonary inte... |
OMIM:618458 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis |
OMIM:167210 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Hypoplasia of penis, Delayed eruption of... |
ORPHA:96264 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria |
OMIM:264700 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Diabetes mellitus, Polycystic kidney dysplasia, Renal cyst |
OMIM:610199 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Coffin-Siris Syndrome 3 |
|
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... |
OMIM:614608 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bladder diverticula... |
ORPHA:2728 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Kleefstra Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency... |
ORPHA:261494 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... |
ORPHA:659 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Delayed epiphyseal ossification, Rickets, Sparse bone t... |
OMIM:277440 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Recurrent pneumonia, Thin vermilion borde... |
OMIM:214150 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal oral muc... |
ORPHA:289 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature loss of teeth, Proteinuria, Enamel hypoplasia |
OMIM:610965 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... |
ORPHA:915 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious t... |
OMIM:311200 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Premature loss of primary teeth |
OMIM:146300 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Carious teeth, Widely spaced teeth... |
OMIM:619229 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst |
OMIM:615560 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Emanuel Syndrome |
|
Broad jaw, Recurrent respiratory infections, Recurrent urinary tract infections, Dental crowding,... |
OMIM:609029 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Oligod... |
ORPHA:2315 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Pulmonary hypoplasia, Long... |
ORPHA:85201 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Recurrent respiratory infections, Thin upper lip vermilion, Micrognath... |
OMIM:190350 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Tauro... |
OMIM:164200 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Microgna... |
OMIM:619148 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Enamel hypoplasia |
OMIM:240300 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Broad jaw, Dental crowding, Unilater... |
ORPHA:96170 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Sinusitis, Ab... |
ORPHA:1452 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ectopic kidney, Pulmonary lymphangiectasia, Gingival overgrowth, Horse... |
OMIM:235510 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Scarf Syndrome |
|
Long philtrum, Micropenis, Enamel hypoplasia, Perineal hypospadias |
OMIM:312830 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Supernumerary tooth, ... |
ORPHA:86818 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Micrognathia |
ORPHA:2645 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Renal insufficiency, Pulmonary fibrosis, Oliguria |
ORPHA:220393 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Abnormality of the... |
ORPHA:96092 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria |
ORPHA:289157 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Hypospadias, Abnormality of the dentition, Carious teeth, Too... |
ORPHA:1786 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Narrow mouth, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226600 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Hamamy Syndrome |
|
Osteopenia, Thin upper lip vermilion, Craniosynostosis, Micrognathia, Dental malocclusion, Wide m... |
OMIM:611174 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal dental morphology, Renal hypoplasia... |
ORPHA:568 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Celiac disease, Osteoporosis, Rickets, Thyroiditis, Recurrent aphthous stomatitis, Steato... |
OMIM:212750 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the dentition, Chronic k... |
ORPHA:416 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Recurrent lower respiratory tract infections, Micrognathia |
OMIM:617802 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia |
OMIM:614866 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration |
ORPHA:94089 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... |
ORPHA:2314 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Renal hypop... |
ORPHA:819 |
Distal Deletion 12Q |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Polycystic kidney dyspla... |
ORPHA:96149 |
Cranioectodermal Dysplasia 3 |
|
Micrognathia, Stage 5 chronic kidney disease, Hypoplasia of teeth, Widely spaced teeth, Everted l... |
OMIM:614099 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Nephrolithiasis, De... |
ORPHA:521445 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Heparan sulfate excretion in urine, Recurrent pneumonia, Thick lower l... |
OMIM:309900 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Pulmonary hypoplasia, Long ... |
OMIM:145420 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... |
OMIM:614922 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Renal magnesium wasting, High, narrow palate, Chronic kidney di... |
OMIM:218330 |
Lowry-Maclean Syndrome |
|
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na... |
ORPHA:2409 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the kidney, Abnormality of the dentition, Thick lower lip vermilion, ... |
ORPHA:261652 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Osteoporosis, Microdontia, Oral leukoplakia |
OMIM:224230 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental morphology, Abnormal... |
ORPHA:2136 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... |
OMIM:119600 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Renal h... |
OMIM:616300 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Nephrolithiasis, Everted lower li... |
ORPHA:2067 |
Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Vesicovaginal fistula, Fused teeth, High palate, ... |
OMIM:300896 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A... |
OMIM:305620 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Enamel hypoplasia, Retrognathia, Hypospadias |
OMIM:210720 |
Immunodeficiency 49 |
|
Natal tooth, Pulmonary artery stenosis, Short philtrum, Micrognathia |
OMIM:617237 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... |
ORPHA:2036 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Horseshoe kidney, Cleft palate, Hi... |
OMIM:300867 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo... |
OMIM:619322 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia |
OMIM:619879 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Hypophosphaturia, Dental malocclusion, Localized hypoplasia of dental enamel, Conic... |
ORPHA:73223 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
3M Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Everted lower lip verm... |
ORPHA:2616 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, Microdontia, Micropenis |
OMIM:619718 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Microdontia, Enamel hypoplasia... |
OMIM:617052 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Proteinuria, Pneumonia, Chronic kidney disease, Dental malocclusion, H... |
ORPHA:1855 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Pelvic kidney, T... |
OMIM:247200 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, U... |
ORPHA:261265 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Micrognathia, Abnormality of the dentition, Eruption failu... |
ORPHA:476126 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Renal malrotation, Thick vermilion border, High palate, Short philtrum... |
OMIM:615866 |
Dyskeratosis, Hereditary Benign Intraepithelial |
|
Oral leukoplakia |
OMIM:127600 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Erosion of oral mucosa, Glomerulonephritis, Oral mucosal... |
ORPHA:79408 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Distal Duplication 5Q |
|
Hypospadias, Micrognathia, Carious teeth, Thin vermilion border, Narrow mouth, Long philtrum |
ORPHA:96097 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth |
ORPHA:950 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... |
ORPHA:534 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Tented upper lip vermilion, Micrognathia, Protruding tongue, Gi... |
OMIM:619777 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney... |
ORPHA:731 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Oral leukoplakia |
OMIM:615735 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Natal tooth, Eclabion |
OMIM:616395 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Enamel hypoplasia, Failure of eruption of permanent teeth, Renal cyst |
OMIM:272460 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Carpenter Syndrome 1 |
|
Hydroureter, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Patent ductus... |
OMIM:201000 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia |
ORPHA:73272 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hypospadias, Micrognathia, Abnormality of the dentition, Cleft palate, Cho... |
OMIM:151050 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma... |
OMIM:101800 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Osteoporosis, Interstitial pneumonitis, Premature loss of teeth, Oral leukoplakia |
OMIM:127550 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Cockayne Syndrome A |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario... |
OMIM:216400 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Patent ductus arteriosus, Long penis, Nephrolit... |
OMIM:135500 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Pneumonia, Proteinuria, Ectopic... |
OMIM:122470 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Eczema, Craniosy... |
ORPHA:33364 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Hypoplas... |
OMIM:211380 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Pat... |
ORPHA:2363 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth, Glomerulopathy |
ORPHA:2348 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ... |
ORPHA:2250 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
White Sponge Nevus 1 |
|
Oral leukoplakia |
OMIM:193900 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration |
ORPHA:79444 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Long penis, Gingival overgr... |
ORPHA:769 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Pustul... |
ORPHA:2907 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... |
OMIM:224300 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Maternal diabetes |
OMIM:300855 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Carious teeth, R... |
ORPHA:90324 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Natal tooth, Hydroureter, Distal urethral duplication, Ectopic kidney, Cleft upp... |
OMIM:146510 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Neonatal hypoglyc... |
ORPHA:445038 |
Lead Poisoning |
|
Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Delayed eruption... |
ORPHA:330015 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... |
OMIM:269880 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Maternal diabetes, Polycystic kidney... |
OMIM:134780 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor... |
ORPHA:2215 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... |
ORPHA:158668 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia |
OMIM:167200 |
Syndromic Diarrhea |
|
Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Microphallus, Hype... |
OMIM:612651 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... |
OMIM:249000 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Obtuse angle of mandible, Ureteral s... |
OMIM:309350 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Atelectasis, Patent ductus arteriosus, Renal ... |
OMIM:269860 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia |
ORPHA:949 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermili... |
ORPHA:2785 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... |
OMIM:620370 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Diabetes mellitus... |
ORPHA:93111 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, Vesicoureteral ... |
ORPHA:567 |
Sotos Syndrome |
|
Mandibular prognathia, Abnormality of the kidney, High, narrow palate, Patent ductus arteriosus, ... |
OMIM:117550 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Dental crowding, Micrognathia, Persistence of primary teeth, Tooth ... |
ORPHA:97360 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Kindler Syndrome |
|
Phimosis, Carious teeth, Urethral stenosis, Gingivitis, Periodontitis, Oral leukoplakia |
OMIM:173650 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Patent ductus arteriosus, Recur... |
ORPHA:1465 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Craniosynostosis, Oral mucosal blisters, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Natal tooth, Selective tooth agenesis, Micrognathia, High, narr... |
OMIM:234100 |
Opitz Gbbb Syndrome |
|
Natal tooth, Hypospadias, Micrognathia, Cleft lip, Patent ductus arteriosus, Cleft palate, Abnorm... |
ORPHA:2745 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hypospadias, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar fl... |
OMIM:123790 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Hypospadias, Dental crowding, Micrognathia, Respiratory tract infection... |
OMIM:180849 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Dental crowding, Micrognat... |
OMIM:300373 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Tu... |
OMIM:230740 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Oral leukoplakia, Squamous cell carcinoma of the tongue |
OMIM:613988 |
Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Transketolase Deficiency |
|
Type I diabetes mellitus, Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Cerebrocostomandibular Syndrome |
|
Cleft soft palate, Micrognathia, Ectopic kidney, Cleft lip, Patent ductus arteriosus, Carious tee... |
OMIM:117650 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Deep philtrum, Uraciluria, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue... |
OMIM:268310 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Mala... |
ORPHA:1775 |
Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:600373 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Patent ductus arteriosus, Small, c... |
ORPHA:2962 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration |
ORPHA:79443 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Micrognathia, Abnormal lung lobation, Advanced eruption of teeth, Multicysti... |
ORPHA:818 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia... |
OMIM:603457 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Delayed eruption of teeth, Open mouth, Pulmonary artery stenosis, T... |
OMIM:280000 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Micrognathia, Carious teeth, Velopharyngeal insufficiency... |
OMIM:223370 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat... |
OMIM:101200 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti... |
OMIM:149730 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... |
ORPHA:87 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Pulmonary hypoplasia, Mi... |
OMIM:617925 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Pneumonia, Carious teeth, Recurrent upper respiratory tract infections... |
OMIM:253200 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal phosphate was... |
ORPHA:289176 |
Specc1L-Related Hypertelorism Syndrome |
|
Ectopic kidney, Patent ductus arteriosus, Orofacial cleft, Thin vermilion border, Everted lower l... |
ORPHA:1519 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia of the maxilla, Eruptio... |
OMIM:166250 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Natal tooth, Hypospadias, P... |
ORPHA:353281 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Osteoporosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:613989 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Gingival overgrowth, Alveolar ridge overgrowth, Widely spaced teeth, A... |
OMIM:301072 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Furrowed tongue, Keratoconjunctivitis sicca, Micr... |
OMIM:148210 |
Helsmoortel-Van Der Aa Syndrome |
|
Smooth philtrum, Recurrent respiratory infections, Recurrent urinary tract infections, Thin upper... |
OMIM:615873 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Carious teeth, Nephrolithiasis, Stage 5 chronic kidney disease, Oral ulcer, Nephroca... |
ORPHA:79259 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cleft palate |
ORPHA:158687 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Micrognathia, Pulmonary hypoplasia, Long philtrum, Malar flattening |
ORPHA:50945 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Recurrent lower respiratory tract infections, Recurrent upper respirat... |
ORPHA:508542 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... |
ORPHA:49 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia, Maternal diabetes |
ORPHA:3404 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia |
OMIM:620133 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
Familial Adenomatous Polyposis 1 |
|
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma |
OMIM:175100 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Epispadias, Patent ductus arte... |
OMIM:615948 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Nep... |
ORPHA:77301 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Wide mouth, Short philtrum, Thick vermilion border, Failure of eruption of per... |
ORPHA:2896 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Gingival overgrowth, Micrognathia |
ORPHA:313855 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Hypospadias, Micrognathia, Abnormality of the gingiva, Recurrent pneum... |
ORPHA:798 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Micrognathia, Abnormality of the dentition, Submucous cle... |
ORPHA:235 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Short lingual frenul... |
ORPHA:79500 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Ureteral duplication, Cleft upper lip, Dental malocclusion, Horseshoe ... |
OMIM:305600 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili... |
OMIM:601812 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Oral leukoplakia |
OMIM:613987 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Widely spaced teeth, Urinary retention, Dental crowding, Delayed eruption of primary teeth |
OMIM:617799 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Adnp Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Urinary incontinence, Recurrent upp... |
ORPHA:404448 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Oral leukoplakia, Cheilitis, Angular cheilitis |
OMIM:616295 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Oral leukoplakia |
OMIM:619767 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia |
OMIM:259600 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
Stickler Syndrome |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... |
ORPHA:828 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Cystic Echinococcosis |
|
Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst |
ORPHA:400 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia |
OMIM:618165 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Skin rash, Malabsorption, Orchitis, Pancreatitis, Osteoarth... |
ORPHA:342 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Clef... |
OMIM:619503 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Patent ductus arteriosus, S... |
OMIM:300166 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Natal tooth, Hypospadias, Micrognathia, Patent ductus arteriosus, Submucous... |
OMIM:275210 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis |
OMIM:257300 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteoporosis, Oral leukoplakia |
OMIM:613990 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Micrognathia |
ORPHA:280365 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
Gardner Syndrome |
|
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
Cockayne Syndrome B |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario... |
OMIM:133540 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Thin upper lip vermilion, Hydrourete... |
OMIM:135900 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth |
OMIM:308300 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia |
OMIM:268300 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Carious teeth, Craniofacial osteosclerosis, Urinary retention |
ORPHA:1328 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Natal tooth, Hypospadias, P... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Natal tooth, Hypospadias, P... |
ORPHA:353277 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Restrictive Dermopathy |
|
Ureteral duplication, Natal tooth, Hypospadias, Micrognathia, Patent ductus arteriosus, Submucous... |
ORPHA:1662 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst |
OMIM:212065 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Carious teeth, High palate, Small,... |
ORPHA:2834 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Pulmonary artery stenosis, Premature... |
ORPHA:667 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Pneumonia, Carious teeth, Oral ulcer |
ORPHA:811 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Dyskeratosis Congenita, X-Linked |
|
Carious teeth, Esophageal stricture, Osteoporosis, Conjunctivitis, Premature loss of teeth, Bleph... |
OMIM:305000 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Intestinal bleeding, Osteoporosis, Oral leukoplakia |
OMIM:612199 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Recurrent respiratory infections, Thin upper lip vermilion, Natal tooth, Microgna... |
OMIM:620186 |
Mosaic Trisomy 9 |
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Hypoplasia of penis, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysplasia |
ORPHA:99776 |
Charge Syndrome |
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Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Patent ductus arteri... |
ORPHA:138 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
2Q37 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Von Hippel-Lindau Syndrome |
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Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Wiedemann-Rautenstrauch Syndrome |
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Delayed eruption of teeth, Recurrent respiratory infections, Natal tooth, Hypospadias, Pneumonia,... |
OMIM:264090 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Pulmonary hypoplasia, Micr... |
OMIM:606170 |
Familial Adenomatous Polyposis |
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Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... |
ORPHA:733 |
Singleton-Merten Syndrome 1 |
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Recurrent respiratory infections, Thin upper lip vermilion, Hypoplasia of the tooth germ, Hypopla... |
OMIM:182250 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Renal dysplasia, Renal cyst |
OMIM:617260 |
Dyskeratosis Congenita, Digenic |
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Oral leukoplakia, Abnormality of the dentition |
OMIM:620040 |
Hoyeraal-Hreidarsson Syndrome |
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Oral leukoplakia |
ORPHA:3322 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Hypospadias, Pulmonary artery sling, Abnormality of the kidney, Patent... |
OMIM:235730 |
Joubert Syndrome 1 |
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Nephropathy, Renal cyst |
OMIM:213300 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
2P15P16.1 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... |
OMIM:266920 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia... |
ORPHA:199 |
Thauvin-Robinet-Faivre Syndrome |
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Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Sponastrime Dysplasia |
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Mandibular prognathia, Obtuse angle of mandible, Hypospadias, Recurrent pneumonia, Hypoplasia of ... |
ORPHA:93357 |
Fryns Syndrome |
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Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Alveolar Echinococcosis |
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Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
Proximal 16P11.2 Microdeletion Syndrome |
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Multicystic kidney dysplasia |
ORPHA:261197 |
Tuberous Sclerosis 2 |
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Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal insufficiency, Renal cyst |
OMIM:617478 |
Joubert Syndrome With Hepatic Defect |
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Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Tuberous Sclerosis 1 |
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Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Tetraamelia-Multiple Malformations Syndrome |
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Multicystic kidney dysplasia |
ORPHA:3301 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Atelosteogenesis Type I |
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Multiple renal cysts |
ORPHA:1190 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Mic... |
OMIM:601803 |
Fryns Syndrome |
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Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Stillbirth, Hydronephrosis |
OMIM:229850 |
Histiocytoid Cardiomyopathy |
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Hypoglycemia, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Pallister-Hall Syndrome |
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Microretrognathia, Natal tooth, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Accessory... |
ORPHA:672 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Wrinkly Skin Syndrome |
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Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon... |
OMIM:278250 |
Acrocephalopolydactylous Dysplasia |
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Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Focal Dermal Hypoplasia |
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Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Microgastria-Limb Reduction Defect Syndrome |
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Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... |
ORPHA:2538 |
Pearson Syndrome |
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Renal insufficiency, Diabetes mellitus, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria |
ORPHA:699 |
Attenuated Familial Adenomatous Polyposis |
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Multiple renal cysts |
ORPHA:220460 |
D-Bifunctional Protein Deficiency |
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Renal cyst |
OMIM:261515 |
Hutchinson-Gilford Progeria Syndrome |
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Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261537 |
Smith-Lemli-Opitz Syndrome |
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Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te... |
ORPHA:2152 |
Wiedemann-Rautenstrauch Syndrome |
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Natal tooth, Recurrent urinary tract infections, Thin upper lip vermilion, Hypospadias, Submucous... |
ORPHA:3455 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia |
OMIM:143095 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261552 |
Simpson-Golabi-Behmel Syndrome |
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Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
Joubert Syndrome 21 |
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Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Hypoglycemia, Neonatal hypoglycemia, Nephrolithiasis, Hypercalciuria, Conge... |
ORPHA:116 |
Revesz Syndrome |
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Oral leukoplakia |
OMIM:268130 |
Lymphangioleiomyomatosis |
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Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Alagille Syndrome 1 |
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Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Orofaciodigital Syndrome Type 1 |
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Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Von Hippel-Lindau Disease |
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Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
Autosomal Recessive Robinow Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Cranioectodermal Dysplasia 2 |
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Renal insufficiency, Renal cyst |
OMIM:613610 |
Cutis Marmorata Telangiectatica Congenita |
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Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Mosaic Variegated Aneuploidy Syndrome |
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Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Williams Syndrome |
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Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr... |
ORPHA:904 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis |
ORPHA:1606 |
Trisomy 10P |
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Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Meckel Syndrome |
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Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Distal Deletion 15Q |
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Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias |
ORPHA:1596 |
Jacobsen Syndrome |
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Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Hajdu-Cheney Syndrome |
|
Multiple renal cysts, Hypospadias |
ORPHA:955 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Renal cyst |
ORPHA:495875 |
Pagod Syndrome |
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Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:991 |
Tetrasomy 9P |
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Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... |
ORPHA:857 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Neonatal de... |
OMIM:308205 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia |
ORPHA:2052 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Proteus Syndrome |
|
Enlarged polycystic ovaries, Long penis, Renal cyst |
ORPHA:744 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |
Pmm2-Cdg |
|
Proteinuria, Insulin resistance, Hyperinsulinemia, Nephrotic syndrome, Multiple renal cysts, Abno... |
ORPHA:79318 |