Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth |
OMIM:226650 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp |
OMIM:619787 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp |
ORPHA:79402 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Enamel hypoplasia, High palate |
OMIM:617915 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia |
OMIM:301033 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel |
OMIM:203550 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Mandibular prognathia, High palate, Pierre-Robin sequence, Hip contracture, Mi... |
OMIM:618363 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Anosmia, Hyposmia |
OMIM:617885 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Limb joint contracture, Atypic... |
ORPHA:251393 |
Trichodental Dysplasia |
|
Conical tooth, Hypodontia, Odontodysplasia |
OMIM:601453 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth |
OMIM:217150 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... |
ORPHA:2325 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Thick lower lip vermilion, Microdontia of primary teeth, U-Shaped upper lip ve... |
OMIM:234250 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth |
ORPHA:248 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth |
ORPHA:79405 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Anosmia, Hyposmia |
OMIM:610628 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Bifid nose, Hyposmia |
OMIM:614838 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia |
OMIM:306000 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Hyposmia |
OMIM:615996 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth |
ORPHA:2643 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
48,Xyyy Syndrome |
|
Enamel hypoplasia, High palate, Long philtrum, Thick lower lip vermilion, Irregularly spaced teeth |
ORPHA:99329 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp |
OMIM:226670 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nasal septum, Anosmia, Short nose |
OMIM:302950 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79411 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... |
OMIM:210250 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly |
OMIM:612526 |
Seckel Syndrome 5 |
|
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... |
OMIM:613823 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat... |
OMIM:616828 |
Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Absent frontal s... |
OMIM:253250 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:612702 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Enamel hypoplasia, Carious teeth |
OMIM:614564 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia |
OMIM:614879 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia |
OMIM:613724 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Micrognathia, Hypodontia, Malar flattening, Premature loss of permanent teeth |
OMIM:212780 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Ramon Syndrome |
|
Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth |
ORPHA:3019 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Enamel hypoplasia, Widely spaced teeth |
OMIM:613573 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp |
OMIM:612843 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... |
ORPHA:2025 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup... |
ORPHA:69087 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Pierre-Robin sequence, Camptodactyly, Everted lower lip vermilion, U-Shaped up... |
OMIM:619980 |
Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,... |
ORPHA:90322 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:244200 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Scarring alopeci... |
OMIM:618727 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Inguinal hernia, Umbilical hernia |
OMIM:618205 |
Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Oculoskeletodental Syndrome |
|
Retrognathia, Enamel hypoplasia, Microdontia, Oligodontia, Abnormality of the dentition |
ORPHA:557003 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Pulp calcification, Taurodontia |
OMIM:211900 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Dental malocclusion, Flexion contracture, Wide mouth, Widely spaced teeth, Mic... |
OMIM:619293 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Immunodeficiency 33 |
|
Conical tooth, Hypodontia, Delayed eruption of teeth |
OMIM:300636 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Delayed eruption of teeth, Micrognathia, Narrow mouth, Ma... |
OMIM:613849 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Oligodontia, Scarring alopecia of scalp, Abnormal dental enamel morphology |
ORPHA:59303 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Cranioectodermal Dysplasia |
|
Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Abnormality of the dentition, ... |
ORPHA:1515 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Anosmia, Hyposmia |
OMIM:243000 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption of permanent teeth, Am... |
OMIM:204690 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... |
OMIM:170390 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Anosmia, Hyposmia, Choanal atresia |
OMIM:147950 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79409 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth, Atypical scarri... |
ORPHA:79410 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon... |
OMIM:129400 |
Pycnodysostosis |
|
Enamel hypoplasia, Dental malocclusion, Obtuse angle of mandible, High palate, Delayed eruption o... |
ORPHA:763 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Arthrogryposis multiplex congenita |
OMIM:226730 |
Huntington Disease |
|
Abnormality of the sense of smell, Decreased body mass index, Weight loss |
ORPHA:399 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614897 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental crowding, Cleft palate,... |
OMIM:619184 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Eunuchoid habitus |
OMIM:308750 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Johnson Neuroectodermal Syndrome |
|
Failure to thrive, Bulbous nose, Anosmia, Choanal atresia |
ORPHA:2316 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Malar flattening |
OMIM:614727 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, High palate, Ankyloglossia, Thin upper lip vermilion, Malar flattening, Bilate... |
OMIM:618874 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition |
ORPHA:1811 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
Aredyld Syndrome |
|
Mandibular prognathia, Advanced eruption of teeth, Craniofacial hyperostosis, Narrow mouth, Smoot... |
ORPHA:1133 |
Jalili Syndrome |
|
Enamel agenesis, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:217080 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Qazi-Markouizos Syndrome |
|
Open mouth, High, narrow palate, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Enamel hypoplasia, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Oral muco... |
OMIM:226600 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Hypoplasia of teeth, Flexion contracture, Camptodactyly, Accessory oral frenulum |
ORPHA:88630 |
Seckel Syndrome 1 |
|
Dental malocclusion, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Elbo... |
OMIM:210600 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... |
OMIM:257850 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Choanal atresia |
ORPHA:91412 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Wide nasal bridge |
ORPHA:377 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Anosmia, Hyposmia |
OMIM:308700 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Short nose |
ORPHA:1295 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
Scarf Syndrome |
|
Enamel hypoplasia, Long philtrum, Inguinal hernia, Hypocalcification of dental enamel, Umbilical ... |
ORPHA:3134 |
Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor... |
OMIM:147250 |
Bardet-Biedl Syndrome 17 |
|
Obesity, Anosmia, Hyposmia |
OMIM:615994 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
Usher Syndrome Type 2 |
|
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:231178 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Inguinal hernia, Ca... |
ORPHA:10 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... |
ORPHA:1031 |
Ohdo Syndrome |
|
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... |
OMIM:249620 |
Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Hernia, Micrognathia, Hypodontia, Microdontia, Amelogenesis imperfecta |
OMIM:617052 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Carious teeth, Dentinogenesis imperfecta |
OMIM:604922 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology |
ORPHA:3236 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:277440 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Hamamy Syndrome |
|
Enamel hypoplasia, Dental malocclusion, High palate, Long philtrum, Wide mouth, Micrognathia, Hyp... |
OMIM:611174 |
Raine Syndrome |
|
Enamel hypoplasia, Mandibular prognathia, High palate, Wide mouth, Natal tooth, Micrognathia, Mic... |
OMIM:259775 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Kohlschutter-Tonz Syndrome-Like |
|
Enamel hypoplasia, Delayed eruption of teeth, Widely spaced teeth, Abnormality of dental morpholo... |
OMIM:619229 |
Temple Syndrome |
|
Decreased testicular size, Hypertriglyceridemia, Cryptorchidism, Hypercholesterolemia |
OMIM:616222 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... |
ORPHA:50814 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Foot joint contracture, Mandibular prognathia, Delayed eruption of primary tee... |
ORPHA:90321 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia |
OMIM:614576 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Malar flattening, Mandibular prognathia, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
Hall-Riggs Syndrome |
|
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morpho... |
ORPHA:2107 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Enamel hypoplasia, Oligodontia |
OMIM:607626 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition |
OMIM:615802 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperchole... |
ORPHA:209902 |
Mandibuloacral Dysplasia |
|
Contractures of the large joints, High palate, Lipoatrophy, Micrognathia, Increased adipose tissu... |
ORPHA:2457 |
Oculodentodigital Dysplasia |
|
Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agenesis, Microdontia, Broad alv... |
OMIM:164200 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Micrognathia, Abnormality of dental morphology, Hypodontia, Anodontia, Hypoplasi... |
ORPHA:3253 |
Johnson Neuroectodermal Syndrome |
|
Choanal stenosis, Anosmia |
OMIM:147770 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Long philtrum, Micrognathia, Oligodontia, Short philtrum, Dorsocervical fat pad, Thin upper lip v... |
ORPHA:391408 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
Kufor-Rakeb Syndrome |
|
Anosmia, Hyposmia |
OMIM:606693 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1782 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, Cleft upper lip, Enamel hypoplasia, Bifid tongue, High palate, Tongue nodules, ... |
OMIM:311200 |
Temtamy Syndrome |
|
Micrognathia, Dental crowding, Long philtrum, Hypoplasia of teeth |
OMIM:218340 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis |
OMIM:244400 |
Cleidocranial Dysplasia 1 |
|
Enamel hypoplasia, Narrow palate, High palate, Hypoplastic frontal sinuses, Delayed eruption of p... |
OMIM:119600 |
Specific Granule Deficiency 2 |
|
Conical tooth, Amelogenesis imperfecta, Tooth malposition |
OMIM:617475 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Flexion contracture, High palate, Micrognathia, Decreased adipose tissue around neck, Narrow mout... |
OMIM:608612 |
Dysostosis, Stanescu Type |
|
Macroglossia, Hypoplasia of the maxilla, Abnormal palate morphology, Hypoplasia of the zygomatic ... |
ORPHA:1798 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Open bite, H... |
ORPHA:1452 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Bile duct proliferation, Increased serum bi... |
OMIM:619662 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Short Syndrome |
|
Abnormal mandible morphology, Microdontia, Inguinal hernia, Lipodystrophy, Abnormal zygomatic bon... |
ORPHA:3163 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Codas Syndrome |
|
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1458 |
Scarf Syndrome |
|
Inguinal hernia, Enamel hypoplasia, Long philtrum, Umbilical hernia |
OMIM:312830 |
Immunodeficiency 9 |
|
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis |
OMIM:612782 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Corneal scarring, Premature loss of teeth, Absence of subcutaneous fat |
OMIM:610965 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Hypodontia, Vaginal hernia, Cleft palate, Macrodontia, Abnormal dental ena... |
ORPHA:2916 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:289157 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Cryptorchidism, Hypercholesterolemia |
ORPHA:96184 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Anosmia |
ORPHA:3157 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia |
ORPHA:528 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
Refsum Disease |
|
Anosmia |
ORPHA:773 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Long philtrum, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Th... |
ORPHA:439822 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Po... |
ORPHA:264580 |
8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose |
ORPHA:284160 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral camptodactyly, Enamel hypoplasia, High palate, Micrognathia, Elbow flexion contracture,... |
OMIM:619777 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Elevated circulating creatine kinase concentration, Polycystic ovaries, Hypercholesterole... |
ORPHA:79240 |
Cole-Carpenter Syndrome 1 |
|
Micrognathia, Microdontia, Dentinogenesis imperfecta |
OMIM:112240 |
Acrootoocular Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Grayish enamel, Micrognathia, Anodontia, Supernum... |
ORPHA:2980 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Omphalocele |
OMIM:243150 |
Mucopolysaccharidosis Type 4 |
|
Hernia, Wide mouth, Grayish enamel, Carious teeth, Abnormality of the dentition, Abnormal dental ... |
ORPHA:582 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Abnormality of the dentition |
OMIM:610968 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Inguinal hernia, Carious teeth, Cl... |
ORPHA:96263 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Polycystic... |
ORPHA:370 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Hypoplasia of teeth, Cleft palate, Widely spaced teeth |
ORPHA:2728 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... |
OMIM:200990 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis |
OMIM:212750 |
Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth |
OMIM:184260 |
Brittle Cornea Syndrome 1 |
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Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Enamel hypoplasia |
OMIM:240300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Enamel hypoplasia, Microdontia, Retrognathia |
OMIM:210720 |
Dysbetalipoproteinemia |
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Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Cole-Carpenter Syndrome |
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Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2050 |
Trichothiodystrophy |
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Retrognathia, Enamel hypoplasia, Multiple joint contractures, Hypoplasia of mandible relative to ... |
ORPHA:33364 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Anisocytosis |
OMIM:604273 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Abnormal dental enamel morphology |
ORPHA:257 |
Craniolenticulosutural Dysplasia |
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High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Thin upper lip ve... |
OMIM:607812 |
Knobloch Syndrome 2 |
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Enamel hypoplasia, Micrognathia |
OMIM:618458 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Hypercholesterolemia |
ORPHA:401923 |
Arthrogryposis And Ectodermal Dysplasia |
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Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Abnormal dental ename... |
OMIM:601701 |
Kallmann Syndrome |
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Obesity, Anosmia, Hyposmia |
ORPHA:478 |
49,Xxxxy Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Carious teeth, Cleft palate, Open ... |
ORPHA:96264 |
Acro-Renal-Mandibular Syndrome |
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Abnormality of the sense of smell |
ORPHA:958 |
Pseudohypoparathyroidism Type 1B |
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Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
Lenz-Majewski Hyperostotic Dwarfism |
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Knee flexion contracture, Enamel hypoplasia, Mandibular prognathia, Micrognathia, Elbow flexion c... |
OMIM:151050 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Micrognathi... |
ORPHA:1071 |
Hereditary Late-Onset Parkinson Disease |
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Weight loss, Hyposmia |
ORPHA:411602 |
Cockayne Syndrome A |
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Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ... |
OMIM:216400 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Abnormal circu... |
ORPHA:90674 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Campomelic Dysplasia |
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Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Osteogenesis Imperfecta, Type Iii |
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Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
Congenital Hypothyroidism |
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Anosmia, Depressed nasal ridge |
ORPHA:442 |
Kilquist Syndrome |
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Mandibular prognathia, Hypoplasia of teeth, Wide mouth |
OMIM:619080 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Absent nares, Single naris, Anosmia, Hyposmia |
ORPHA:2250 |
Cole-Carpenter Syndrome 2 |
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Dentinogenesis imperfecta, High palate, Microretrognathia |
OMIM:616294 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Enamel hypoplasia, Atrophic scars, Scarring, Oral mucosal blisters, Smooth tongue |
ORPHA:79396 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
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Camptodactyly of finger, Taurodontia, Abnormality of the dentition, Abnormal dental enamel morpho... |
ORPHA:3220 |
Cenani-Lenz Syndrome |
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Hypodontia, Short philtrum, Malar flattening, High, narrow palate, Abnormal dental enamel morphology |
ORPHA:3258 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Retrognathia, Microdontia, Inguinal hernia, Hypoplasia of the zygomatic bone, Cleft palate, Abnor... |
ORPHA:1812 |
Nail-Patella Syndrome |
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Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Elbow flexion contracture, Achi... |
ORPHA:2614 |
Young-Onset Parkinson Disease |
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Hyposmia |
ORPHA:2828 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Dental malocclusion, Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Localize... |
ORPHA:73223 |
Koolen-De Vries Syndrome |
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Narrow palate, Microdontia, Hypodontia, Everted lower lip vermilion, Cleft palate, Abnormality of... |
ORPHA:96169 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Increased facial adipose tissue, Flexion contracture, High palate, Reduced subcutaneous adipose t... |
OMIM:248370 |
Codas Syndrome |
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Enamel hypoplasia, Omphalocele, Delayed eruption of teeth |
OMIM:600373 |
Sanjad-Sakati Syndrome |
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Long philtrum, Micrognathia, Abnormal dental enamel morphology, Thin vermilion border, Abnormalit... |
ORPHA:2323 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Usher Syndrome |
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Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:886 |
Lysinuric Protein Intolerance |
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Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Decreased response to growth hormone stimul... |
ORPHA:470 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
Immunodeficiency 47 |
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Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... |
OMIM:300972 |
Corneodermatoosseous Syndrome |
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Carious teeth, Gingivitis, Abnormal dental enamel morphology |
ORPHA:3194 |
Osteogenesis Imperfecta, Type Xiii |
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Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Thin vermilion border |
OMIM:614856 |
Costello Syndrome |
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Narrow palate, Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Abnorm... |
ORPHA:3071 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Thin upper lip vermilio... |
OMIM:614701 |
Treacher-Collins Syndrome |
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Retrognathia, Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Micrognathi... |
ORPHA:861 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Retrognathia, Dentinogenesis imperfecta, Periodontitis, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
Cranioectodermal Dysplasia 1 |
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Enamel hypoplasia, High palate, Widely spaced teeth, Microdontia, Hypodontia, Anodontia, Everted ... |
OMIM:218330 |
Orofaciodigital Syndrome Type 2 |
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Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... |
ORPHA:2751 |
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