Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
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 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... |
ORPHA:1031 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro... |
OMIM:154020 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Stimmler Syndrome |
|
Microdontia, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ... |
ORPHA:79405 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79402 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ... |
ORPHA:79406 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... |
OMIM:618363 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Ename... |
OMIM:226670 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Medullary nephro... |
OMIM:613312 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ... |
ORPHA:79411 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Abnormal renal morphology, Irregularly spaced teeth, High palate, Long... |
ORPHA:99329 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of p... |
ORPHA:839 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia |
OMIM:616029 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia, Glossitis |
OMIM:175500 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Abnormality of the dentition, Nephrocalcinosis, Oligodontia, Hypocalcemia, Microdo... |
ORPHA:557003 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Renal agenesis, Micrognathia, Ectopic kidney, Renal hypoplasia... |
OMIM:212780 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... |
OMIM:601678 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT... |
OMIM:612462 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypo... |
OMIM:613823 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Nocturia, Enuresis, Hypokalemia, Increased circulating renin l... |
OMIM:263800 |
Mulibrey Nanism |
|
Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malo... |
OMIM:253250 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Abnormality of dental color, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen |
OMIM:223360 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Secretory diarrhea, Hematochezia, Hyp... |
OMIM:618183 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Elevated maternal serum alpha-fetoprotein, Oral mucosal blisters, Urethrovesical occlusion, Atrop... |
OMIM:226730 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci... |
OMIM:612780 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephroc... |
ORPHA:18 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic... |
ORPHA:79409 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Hypophosphatasia, Childhood |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Premature loss of primary teeth, Car... |
OMIM:241510 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administrati... |
OMIM:103580 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, T... |
OMIM:619980 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Malar flattening, Elevated circulating creatine kinase concentration, ... |
OMIM:614727 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Exaggerated cupid's bow, Hypospadia... |
OMIM:619293 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria |
OMIM:145980 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Carious teeth, Dysphagia, Widely s... |
OMIM:619229 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atypical scarring of skin, A... |
ORPHA:79410 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia |
ORPHA:428 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Refractory Celiac Disease |
|
Hypomagnesemia, Chronic diarrhea, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... |
ORPHA:90322 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo... |
OMIM:264700 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Xerostomia, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
Osteogenesis Imperfecta, Type Xxii |
|
Abnormal circulating calcium concentration, Dentinogenesis imperfecta, Abnormal blood phosphate c... |
OMIM:619795 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP re... |
ORPHA:94089 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... |
OMIM:253000 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Hypoplasia of teeth, Chronic constipation, Open mouth, Broad philtrum |
ORPHA:3010 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Hypospadias, Oral-pharyngeal dysphagia, Pierre-Robin sequence, Cleft palate, Oli... |
OMIM:619184 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Abnormality of the dentition, Hypophosphatemia |
OMIM:193100 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Chronic diarrhea, ... |
OMIM:614576 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficie... |
OMIM:129400 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Dysphagia, Atrophic scars, Constipa... |
OMIM:226600 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... |
OMIM:253010 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Ohdo Syndrome |
|
Proteinuria, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narro... |
OMIM:249620 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Malar flatten... |
OMIM:618874 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... |
ORPHA:79102 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Hypoplasia of penis, Abnormal dental ename... |
ORPHA:10 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Renal insufficiency, Foot joint contracture, Scarring, Delayed eruption of... |
ORPHA:90321 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Hydronephrosis, Hematuri... |
ORPHA:79403 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures |
OMIM:277440 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo... |
ORPHA:289157 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Hypospadias, Micrognathia, Dental malocclusion, Elbow ... |
OMIM:210600 |
Scarf Syndrome |
|
Inguinal hernia, Micropenis, Perineal hypospadias, Long philtrum, Umbilical hernia, Enamel hypopl... |
ORPHA:3134 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Renal magnesium wasting, High, narrow palate, Chronic kidney disease, Stage 5 ch... |
OMIM:218330 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia |
OMIM:145260 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Diarrhea, Hypermagnesemia, Noctur... |
ORPHA:358 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... |
OMIM:617671 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Protruding tongue, Narrow mouth, G... |
OMIM:259775 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Primary Intestinal Lymphangiectasia |
|
Chronic diarrhea, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth |
ORPHA:88630 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating renin level |
OMIM:605115 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia, Shagree... |
ORPHA:1816 |
Porphyria, Congenital Erythropoietic |
|
Erythrodontia, Red urine, Corneal scarring, Atypical scarring of skin, Elevated circulating uropo... |
OMIM:263700 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Ileus, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephri... |
ORPHA:37042 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia,... |
OMIM:610965 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Hypomagnesemia, Exocrine pancreatic insufficiency, Chronic diar... |
ORPHA:699 |
Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Diarrhea, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal... |
ORPHA:47159 |
Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Vomiting, Recurrent aphthous stomatitis, Hypocalcemia, Steatorrhea, Stomatitis, Enamel ... |
OMIM:212750 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor... |
OMIM:620250 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Enamel hypomineralization, Renal phosphate wasting, R... |
OMIM:307800 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Dental crowding, Lipoatrophy,... |
ORPHA:2457 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bladder diverticula... |
ORPHA:2728 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Intestinal obstruction, Abnormal dental enamel morphology, Micrognathia, Abn... |
ORPHA:2323 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Diarrhea, Chronic kidney disease, Hypermagnesemia, Vomiting, Hyperuricemia, ... |
ORPHA:469 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Tooth malposition, Intractable diarrhea, Conical tooth |
OMIM:617475 |
Hepatoerythropoietic Porphyria |
|
Erythrodontia, Scarring, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp... |
ORPHA:95159 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP re... |
ORPHA:79444 |
Immunodeficiency 9 |
|
Stomatitis, Chronic diarrhea, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... |
OMIM:611174 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Gastroesophageal reflux, ... |
ORPHA:79408 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious t... |
OMIM:311200 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Scarring, Increased connective tissue, Abnormal circulating porphyrin concentratio... |
ORPHA:79277 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Intestinal obstruction, ... |
ORPHA:666 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Tauro... |
OMIM:164200 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala... |
ORPHA:2614 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... |
ORPHA:3253 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Exocrine pancreatic insufficiency, Oral ulcer, Downturned corners of mouth, Hypodon... |
OMIM:617052 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Kilquist Syndrome |
|
Mandibular prognathia, Xerostomia, Hypoplasia of teeth, Wide mouth, Chronic constipation, Gastroe... |
OMIM:619080 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Hypoplasia of penis, Abnormal ... |
ORPHA:96263 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intestinal obstruction, Enterocolitis, Bloody diarrhea, Hematochezia, Enamel hypoplasia |
OMIM:243150 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Renal insufficiency, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl... |
OMIM:619503 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting |
OMIM:239199 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Enamel hypoplasia, Diarrhea, Atrophic gastritis |
OMIM:240300 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:1458 |
Scarf Syndrome |
|
Inguinal hernia, Micropenis, Perineal hypospadias, Long philtrum, Umbilical hernia, Enamel hypopl... |
OMIM:312830 |
Temtamy Syndrome |
|
Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia |
OMIM:218340 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary n... |
OMIM:143880 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Vomiting, Increased circulating renin level |
OMIM:203400 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... |
ORPHA:96264 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Hypospadias |
OMIM:101805 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Abnormalit... |
ORPHA:2916 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co... |
ORPHA:391408 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Hypophosphaturia, Dental malocclusion, Localized hypoplasia of dental enamel, Conic... |
ORPHA:73223 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Vomiting |
OMIM:264350 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst... |
ORPHA:79404 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal... |
OMIM:300896 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Polycystic kidney dysplasia, Nephronophthisis, Dentinogenesis imperfec... |
OMIM:184260 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP re... |
ORPHA:79443 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, O... |
ORPHA:534 |
Knobloch Syndrome 2 |
|
Chronic constipation, Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Delayed eruption of permanent teeth, Periodontitis, Prematu... |
OMIM:619269 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, ... |
ORPHA:439822 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Abnormal dental enamel morphology, Cheilitis, Hematuria, Abno... |
ORPHA:1334 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Abnormality of the dentitio... |
ORPHA:96169 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, De... |
OMIM:248370 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Renal insufficiency,... |
OMIM:216400 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Enamel hypoplasia, Retrognathia, Hypospadias |
OMIM:210720 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis |
OMIM:602722 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Hypocalcemia, Hypocalcemic tetany, Calvarial osteosclerosis, Hypocalcemic seizures |
ORPHA:93324 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Renal hypoplasia/aplasia, High, narrow palate, Short philtrum,... |
ORPHA:3258 |
Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Hypospadias, Micrognathia, Abnormality of the dentition, ... |
OMIM:151050 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Velop... |
OMIM:613680 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:610600 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth |
OMIM:146300 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Neurogenic bladder, Renal insufficiency, Abnormal dental mor... |
ORPHA:191 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Abnormality of the de... |
OMIM:241500 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Oral mucosal blisters, Atrophic scars, Hypoalbuminemia, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Osteogenesis Imperfecta, Type Xiii |
|
Enuresis nocturna, Thin vermilion border, Long philtrum, Umbilical hernia, Dentinogenesis imperfecta |
OMIM:614856 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Cleft palate, Hypoplasia... |
ORPHA:1812 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesi... |
ORPHA:2909 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Hyperphosphaturia, Hypercalcemia, Micrognathia, Hypercalciuria, Knee flexion con... |
OMIM:156400 |
Trichothiodystrophy |
|
Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar... |
ORPHA:33364 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr... |
OMIM:601701 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnormal dental enamel... |
ORPHA:2750 |
Costello Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro... |
ORPHA:3071 |
Codas Syndrome |
|
Delayed eruption of teeth, Gastroesophageal reflux, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate... |
OMIM:614701 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the dentition, Chronic k... |
ORPHA:416 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:3220 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, F... |
ORPHA:90324 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Enthesitis, Renal phosphate wasting, Hypocalciuria, Hypophosphatemia, Cellulitis... |
ORPHA:89936 |
Cranioectodermal Dysplasia 3 |
|
Micrognathia, Stage 5 chronic kidney disease, Hypoplasia of teeth, Everted lower lip vermilion, W... |
OMIM:614099 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
3M Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Everted lower lip verm... |
ORPHA:2616 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... |
ORPHA:427 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting |
ORPHA:556037 |
Treacher-Collins Syndrome |
|
Branchial fistula, Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:861 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Hypospadias, Micrognathia, Cleft p... |
ORPHA:85199 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalcemia, Elbow flexion contracture, Hypercalciuria, Macroglossia, Oligodont... |
OMIM:618440 |
Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Renal cyst, Cleft palate, Failure of eruption of permanent teeth, Enamel hypoplasia |
OMIM:272460 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodac... |
ORPHA:2908 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hyp... |
OMIM:227810 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:612714 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Micrognathia, Micropenis, Contracture of the proximal interphalangeal joint of the 5th finger, Hy... |
ORPHA:293967 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Neurogenic bladder, Median cleft lip, Abnormal dental enamel morphology, P... |
ORPHA:2710 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting |
ORPHA:556030 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta |
OMIM:610968 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Hypospadias, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:180849 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Abnormal dental morphology, Abnormal ... |
ORPHA:2092 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Hypospadias, Cleft lip, Dental malocclusion, Cleft p... |
OMIM:603457 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Penoscrotal hypospadias, Ureteral stenosis, Unilateral cleft palate, Abnor... |
ORPHA:1299 |
Seckel Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia |
ORPHA:808 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Eec Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Carious teeth, Xerostom... |
ORPHA:1896 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphate... |
ORPHA:289176 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Nephrolithias... |
ORPHA:157215 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent... |
ORPHA:221008 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia |
OMIM:614732 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Constipati... |
OMIM:239200 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Hypercalciuria, Hyperph... |
OMIM:239000 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph... |
OMIM:616026 |
Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Micrognathia, Nephrolithiasis, Malar flattening, Dentinogenesis imperfecta |
OMIM:613848 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Ureteral duplication, Congenital diaphra... |
OMIM:305600 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Hypercalciuria, Rena... |
OMIM:615398 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Aplasia of the paroti... |
OMIM:149730 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Diarrhea, Hyperkalemia, Hyp... |
ORPHA:361 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Gastroesophageal reflux, Adva... |
ORPHA:818 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal penis morphology, Inguinal hernia, Femoral hernia, Abnormal denta... |
ORPHA:2658 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma... |
OMIM:191100 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Parathyroid Carcinoma |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Dental malocclusion, Abnormal facial skeleton morphology, Renal phosphate wast... |
ORPHA:562 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Del... |
OMIM:133540 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta |
OMIM:616507 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231580 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Hypertriglyceridemia, Hypercalcemia, Exaggerated cupid's bow, Microgn... |
ORPHA:369837 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High pa... |
ORPHA:536467 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... |
ORPHA:95409 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morphology |
ORPHA:79430 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short philtrum, Hypocalcemia, Gastroesophageal reflux, Vesicoureteral reflux, Hypos... |
ORPHA:567 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D... |
OMIM:618371 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
Alström Syndrome |
|
Abnormality of dental color, Hypertriglyceridemia, Dorsocervical fat pad, Recurrent urinary tract... |
ORPHA:64 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Dental crowding, Micrognath... |
OMIM:300990 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231625 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal t... |
ORPHA:904 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Median cleft lip and palate, Dental crowding... |
ORPHA:3310 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, V... |
ORPHA:90791 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting |
OMIM:300200 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria, Nausea |
ORPHA:251274 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... |
OMIM:277900 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Diarrhea, Hyperkalemia, Abnormal urine po... |
ORPHA:275761 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:289548 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate... |
ORPHA:653 |
Kindler Syndrome |
|
Phimosis, Carious teeth, Urethral stenosis, Gingivitis, Periodontitis, Dysphagia, Oral leukoplakia |
OMIM:173650 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyperkale... |
ORPHA:85138 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Wide mouth, Hematuria, Renal corticomedull... |
OMIM:243910 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentiti... |
ORPHA:158668 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr... |
ORPHA:90795 |
Opsismodysplasia |
|
Renal phosphate wasting, Long philtrum, Hypophosphatemia |
OMIM:258480 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R... |
OMIM:601803 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, Congenital diaphragmat... |
ORPHA:2556 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis, Dentinogenesis imperfecta, Long philtrum |
OMIM:610682 |
Familial Adenomatous Polyposis |
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Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... |
ORPHA:733 |
Pearson Marrow-Pancreas Syndrome |
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Chronic diarrhea, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex orga... |
OMIM:557000 |
Williams-Beuren Syndrome |
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Flexion contracture, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Microdonti... |
OMIM:194050 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Omphalocele, Inguinal hernia, Hydroureter, Camptodactyly of finger, Abnormal dental enamel morpho... |
ORPHA:2273 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
Cystic Fibrosis |
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Meconium ileus, Diarrhea, Ileus, Hypercalciuria, Steatorrhea, Chronic sinusitis, Exocrine pancrea... |
OMIM:219700 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Omphalocele, Inguinal hernia, Ureteral duplication, Elevated circulating a... |
ORPHA:116 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... |
ORPHA:90794 |
Proteus Syndrome |
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Abnormal dental enamel morphology, Carious teeth, Abnormal subcutaneous fat tissue distribution, ... |
ORPHA:744 |
Johanson-Blizzard Syndrome |
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Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conjugated hyperbi... |
OMIM:243800 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, I... |
ORPHA:508 |
Multiple Endocrine Neoplasia Type 1 |
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Hypercalcemia, Hematemesis, Diarrhea, Nephrolithiasis, Gingival fibromatosis, Hypercalciuria, Mel... |
ORPHA:652 |
Sarcoidosis |
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Renal insufficiency, Scarring, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Enlargement of par... |
ORPHA:797 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormal salivary gland morphology, Hypercalciuria, Inflammation of the large intestine |
OMIM:181000 |
Generalized Arterial Calcification Of Infancy |
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Hyperphosphaturia, Nephrocalcinosis, Vomiting, Hypophosphatemic rickets, Medullary nephrocalcinos... |
ORPHA:51608 |