| 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 |
|
Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Microdontia, Retrognathia |
OMIM:210720 |
| Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
| Cole-Carpenter Syndrome |
|
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2050 |
| Trichothiodystrophy |
|
Retrognathia, Enamel hypoplasia, Multiple joint contractures, Hypoplasia of mandible relative to ... |
ORPHA:33364 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Thin upper lip ve... |
OMIM:607812 |
| Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Abnormal dental ename... |
OMIM:601701 |
| Kallmann Syndrome |
|
Obesity, Anosmia, Hyposmia |
ORPHA:478 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Carious teeth, Cleft palate, Open ... |
ORPHA:96264 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Knee flexion contracture, Enamel hypoplasia, Mandibular prognathia, Micrognathia, Elbow flexion c... |
OMIM:151050 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Micrognathi... |
ORPHA:1071 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Hyposmia |
ORPHA:411602 |
| Cockayne Syndrome A |
|
Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ... |
OMIM:216400 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Abnormal circu... |
ORPHA:90674 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
| Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
| Congenital Hypothyroidism |
|
Anosmia, Depressed nasal ridge |
ORPHA:442 |
| Kilquist Syndrome |
|
Mandibular prognathia, Hypoplasia of teeth, Wide mouth |
OMIM:619080 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Anosmia, Hyposmia |
ORPHA:2250 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Microretrognathia |
OMIM:616294 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Atrophic scars, Scarring, Oral mucosal blisters, Smooth tongue |
ORPHA:79396 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormality of the dentition, Abnormal dental enamel morpho... |
ORPHA:3220 |
| Cenani-Lenz Syndrome |
|
Hypodontia, Short philtrum, Malar flattening, High, narrow palate, Abnormal dental enamel morphology |
ORPHA:3258 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Microdontia, Inguinal hernia, Hypoplasia of the zygomatic bone, Cleft palate, Abnor... |
ORPHA:1812 |
| Nail-Patella Syndrome |
|
Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Elbow flexion contracture, Achi... |
ORPHA:2614 |
| Young-Onset Parkinson Disease |
|
Hyposmia |
ORPHA:2828 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Localize... |
ORPHA:73223 |
| Koolen-De Vries Syndrome |
|
Narrow palate, Microdontia, Hypodontia, Everted lower lip vermilion, Cleft palate, Abnormality of... |
ORPHA:96169 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Flexion contracture, High palate, Reduced subcutaneous adipose t... |
OMIM:248370 |
| Codas Syndrome |
|
Enamel hypoplasia, Omphalocele, Delayed eruption of teeth |
OMIM:600373 |
| Sanjad-Sakati Syndrome |
|
Long philtrum, Micrognathia, Abnormal dental enamel morphology, Thin vermilion border, Abnormalit... |
ORPHA:2323 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Usher Syndrome |
|
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:886 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Decreased response to growth hormone stimul... |
ORPHA:470 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
| Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... |
OMIM:300972 |
| Corneodermatoosseous Syndrome |
|
Carious teeth, Gingivitis, Abnormal dental enamel morphology |
ORPHA:3194 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Thin vermilion border |
OMIM:614856 |
| Costello Syndrome |
|
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 |
|
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Thin upper lip vermilio... |
OMIM:614701 |
| Treacher-Collins Syndrome |
|
Retrognathia, Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Micrognathi... |
ORPHA:861 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Retrognathia, Dentinogenesis imperfecta, Periodontitis, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
| Cranioectodermal Dysplasia 1 |
|
Enamel hypoplasia, High palate, Widely spaced teeth, Microdontia, Hypodontia, Anodontia, Everted ... |
OMIM:218330 |
| Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... |
ORPHA:2751 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Mandibular prognathia, High palate, Short philtrum, Fused teeth, Open mouth, E... |
OMIM:300896 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Xanth... |
ORPHA:275761 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
| Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
| Holoprosencephaly |
|
Absent nares, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hyposmia, Abnormality... |
ORPHA:2162 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
| 3M Syndrome |
|
Everted lower lip vermilion, Abnormal dental enamel morphology, Long philtrum, Delayed eruption o... |
ORPHA:2616 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Mandibular prognathia, Micrognathia, Broad alveol... |
ORPHA:2710 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Wide mouth, Micrognathia, Abnormality of dental morphology, Thick vermilion border, Abnormal pala... |
ORPHA:85199 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Hypercholesterolemia |
ORPHA:69663 |
| Waardenburg Syndrome, Type 4C |
|
Anosmia |
OMIM:613266 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79444 |
| Rothmund-Thomson Syndrome |
|
Selective tooth agenesis, Delayed eruption of teeth, Microdontia, Supernumerary tooth, Carious te... |
ORPHA:2909 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Cleft palate, Failure of eruption of permanent teeth, Inguinal hernia |
OMIM:272460 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Enamel hypoplasia, Dental malocclusion, Flexion contracture, High palate, Narrow pa... |
OMIM:180849 |
| Moebius Syndrome |
|
Abnormality of the sense of smell |
ORPHA:570 |
| Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Lacrimoauriculodentodigital Syndrome |
|
Enamel hypoplasia, Micrognathia, Microdontia, Bifid uvula, Hypodontia, Orofacial cleft, Abnormal ... |
ORPHA:2363 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia |
OMIM:619718 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Carious ... |
OMIM:253000 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Cockayne Syndrome |
|
Enamel hypoplasia, Dental malocclusion, Contractures of the large joints, Abnormal number of teet... |
ORPHA:191 |
| 8P11.2 Deletion Syndrome |
|
Depressed nasal bridge, Anosmia |
ORPHA:251066 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypoplasia of the tooth germ, Micrognathia, Bifid uvula, Contracture of the proximal interphalang... |
ORPHA:293967 |
| Seckel Syndrome |
|
Micrognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:808 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... |
ORPHA:79277 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal lip morphology, Cheilitis, Abnormal dental enamel morphology |
ORPHA:1334 |
| Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, Lip pit, High palate, Tongue nodules, Micrognathia, Broad alveolar ridges, Hypo... |
ORPHA:2750 |
| Superficial Siderosis |
|
Partial anosmia, Anosmia, Dysgyria |
ORPHA:247245 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Carious ... |
OMIM:253010 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79443 |
| Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, High palate, Delayed eruption of teeth, Micrognathia, Microdontia, Supernu... |
OMIM:268400 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Inguinal hernia, Cleft lip, Cleft p... |
OMIM:603457 |
| Cranioectodermal Dysplasia 3 |
|
Everted lower lip vermilion, Micrognathia, Hypoplasia of teeth, Widely spaced teeth |
OMIM:614099 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morphology, Polycystic ova... |
ORPHA:79259 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Enamel hypoplasia, Flexion contracture |
ORPHA:90324 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:1005 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Polycystic ovaries, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholester... |
OMIM:151660 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Hernia, Abnormality of the dentition, Abnormality of dental morphology, ... |
ORPHA:2092 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Enamel hypoplasia, Foot joint contracture, Flexion contracture, Erosion of oral mucosa, Ankyloglo... |
ORPHA:79408 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Bifid uvula, Submucous cleft hard palate, Short philtrum, Hypoplasia of th... |
ORPHA:1299 |
| Focal Dermal Hypoplasia |
|
Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Delayed eruption of teeth, Hypodontia, O... |
OMIM:305600 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Knee flexion contracture, Enamel hypoplasia, Flexion contracture, High palate, Cleft soft palate,... |
OMIM:619503 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology |
ORPHA:251004 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Hyposmia |
OMIM:618653 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization |
OMIM:307800 |
| Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Micrognathia, Malar flattening, Dentinogenesis imperfecta |
OMIM:613848 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, To... |
ORPHA:534 |
| Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Hypercholesterolemia |
OMIM:619471 |
| Rothmund-Thomson Syndrome Type 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Tooth agenesis, Carious teeth, Cleft palate,... |
ORPHA:221016 |
| Meningioma |
|
Abnormality of the sense of smell, Obesity |
ORPHA:2495 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Gingivitis, Flexion contracture, Periodontitis, Premature loss of primar... |
ORPHA:2908 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology,... |
ORPHA:464 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Microdontia, Tooth agenesis, Carious teeth, Abnormality of the dentiti... |
ORPHA:221008 |
| Eec Syndrome |
|
Microdontia, Taurodontia, Tooth agenesis, Abnormal dental enamel morphology, Carious teeth, Cleft... |
ORPHA:1896 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Wide mouth, Thick vermilion border, Bifid uvula, Submucous cleft hard pala... |
ORPHA:2658 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Enamel hypoplasia, Abnormal oral mucosa morphology |
ORPHA:79404 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia |
OMIM:609136 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, High palate, Multiple joint contractures, Long philtrum, Micrognathia,... |
ORPHA:536467 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Enamel hypoplasia, Delayed eruption of primary teeth, Microdontia, Absence of Stensen duct, Hypod... |
OMIM:149730 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Enamel hypoplasia, Joint contracture of the hand, Keloids, Corneal scarring |
OMIM:309000 |
| Hypophosphatemic Rickets |
|
Craniofacial asymmetry, Enthesitis, Odontodysplasia, Craniofacial osteosclerosis, Periapical toot... |
ORPHA:437 |
| Wilson Disease |
|
Hyposmia |
OMIM:277900 |
| Leopard Syndrome 1 |
|
Depressed nasal ridge, Hyposmia |
OMIM:151100 |
| Amoebiasis Due To Free-Living Amoebae |
|
Hyposmia |
ORPHA:68 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid tongue, Long philtrum, Wide mouth, Micrognathia, Advanced eruption of teeth, Abnormality of... |
ORPHA:818 |
| Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
| Cockayne Syndrome B |
|
Dental malocclusion, Mandibular prognathia, Delayed eruption of primary teeth, Reduced subcutaneo... |
OMIM:133540 |
| Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Micrognathia, Advanced eruption of teeth, Macroglossia, Hypoplasi... |
ORPHA:828 |
| X-Linked Hypophosphatemia |
|
Cellulitis, Enthesitis, Abnormal dentin morphology, Odontodysplasia, Tooth abscess |
ORPHA:89936 |
| Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
| Turnpenny-Fry Syndrome |
|
Dental malocclusion, Mandibular prognathia, High palate, Widely spaced teeth, Microdontia, Dental... |
OMIM:618371 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Shagreen patch |
OMIM:191100 |
| Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Dental malocclusion, Flexion contracture, Delayed eruption of teeth, M... |
ORPHA:666 |
| Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:79430 |
| 22Q11.2 Deletion Syndrome |
|
Long philtrum, Abnormality of the dentition, Micrognathia, Short philtrum, Inguinal hernia, Narro... |
ORPHA:567 |
| Tetrasomy 9P |
|
Abnormal number of permanent teeth, High palate, Micrognathia, Bifid uvula, Dental crowding, Shor... |
ORPHA:3310 |
| Charge Syndrome |
|
Depressed nasal bridge, Anosmia, Choanal atresia |
ORPHA:138 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Decreased response to growth hormone stimulation test, Secondary hyperparat... |
ORPHA:273 |
| Pallister-Killian Syndrome |
|
Enamel hypoplasia, Flexion contracture, Long philtrum, Wide mouth, Delayed eruption of teeth, Mic... |
OMIM:601803 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
| Familial Adenomatous Polyposis |
|
Eruption failure, Odontoma, Supernumerary tooth, Lipoma, Abnormal cementum morphology, Abnormalit... |
ORPHA:733 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Retrognathia, Mandibular aplasia, Micrognathia, Congenital diaphragmatic hernia, Abnormal dental ... |
ORPHA:2556 |
| Williams Syndrome |
|
Dental malocclusion, Long philtrum, Wide mouth, Thick lower lip vermilion, Microdontia, Hypodonti... |
ORPHA:904 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Hyperbilirubinemia, Increased circulating ferritin concentration, ... |
OMIM:619534 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
| Singleton-Merten Syndrome 1 |
|
Eruption failure, Hypoplasia of the maxilla, Thin upper lip vermilion, Carious teeth, Smooth phil... |
OMIM:182250 |
| Charge Syndrome |
|
Anosmia, Choanal atresia |
OMIM:214800 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Omphalocele, Cheilitis, Abnormal dental enamel morphology |
ORPHA:2273 |
| Proteus Syndrome |
|
Abnormal subcutaneous fat tissue distribution, Tooth agenesis, Lipoma, Carious teeth, Abnormal de... |
ORPHA:744 |
| Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization |
ORPHA:47159 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of the primary teeth, Agenesis of permanent teeth |
OMIM:243800 |
