| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, 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 |
|
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia |
OMIM:104530 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... |
OMIM:301200 |
| Amelogenesis Imperfecta, Type If |
|
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... |
OMIM:204700 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:3196 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... |
OMIM:618386 |
| Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... |
OMIM:166750 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
| Dentinogenesis Imperfecta |
|
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... |
ORPHA:49042 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth |
OMIM:226650 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Scarring alopecia of scalp, Carious teeth |
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 |
|
Persistence of primary teeth, Hypodontia, 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 |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
| 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 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| 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 |
| Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| 17Q11.2 Microduplication Syndrome |
|
Malar flattening, Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:139474 |
| 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 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
High palate, Retrognathia, Enamel hypoplasia |
OMIM:617915 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... |
ORPHA:2972 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Florid Cemento-Osseous Dysplasia |
|
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... |
ORPHA:83451 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Microdontia, Selective tooth agenesis |
OMIM:617275 |
| Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Enamel hypoplasia, Carious teeth |
OMIM:226700 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia |
OMIM:301033 |
| Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
| Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... |
ORPHA:1028 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Flexion contracture, Generalized hypoplasia of dental enamel, Carious teeth |
OMIM:203550 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Carious teeth, Thick vermilion border |
ORPHA:363523 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Inguinal hernia, Tooth agenesis, Mandibular prognathia, Amelogenesis imperfecta, Ena... |
OMIM:618363 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Cryptorchidism, Hypochromic anemia, Anemia of inadequate pro... |
ORPHA:67044 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2222 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Taurodontia, Enamel hypomineralization, Microdontia, Dental enamel pits, Per... |
ORPHA:3352 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Abnormality of dental color, L... |
ORPHA:251393 |
| Otodental Syndrome |
|
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:2791 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... |
OMIM:616860 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia, Obesity |
OMIM:617885 |
| Trichodental Dysplasia |
|
Conical tooth, Hypodontia, Odontodysplasia |
OMIM:601453 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of ... |
OMIM:234250 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Abnormal mandible morphology, Natal tooth, Cleft palate |
OMIM:217150 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morpholo... |
ORPHA:2325 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... |
OMIM:615631 |
| Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids |
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 |
|
Anosmia, Hyposmia, Obesity |
OMIM:610628 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Enamel hypoplasia, Increased connective tissue, Carious teeth, Scarring alopecia of scalp |
OMIM:226670 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, 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 |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
| Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids |
ORPHA:79406 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
OMIM:306000 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Hyposmia, Bifid nose |
OMIM:614838 |
| Bardet-Biedl Syndrome 19 |
|
Hyposmia, Obesity |
OMIM:615996 |
| 48,Xyyy Syndrome |
|
High palate, Irregularly spaced teeth, Enamel hypoplasia, Long philtrum, Thick lower lip vermilion |
ORPHA:99329 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti... |
ORPHA:86841 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
| Pili Torti |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:2889 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:245660 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Dental Anomalies And Short Stature |
|
Oligodontia, Widely spaced teeth, Amelogenesis imperfecta, Mandibular prognathia, Microdontia, Hy... |
OMIM:601216 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Short nose, Short nasal septum, Depressed nasal bridge |
OMIM:302950 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:757 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... |
OMIM:224120 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters |
ORPHA:79411 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
| Seckel Syndrome 5 |
|
Oligodontia, High palate, Retrognathia, Selective tooth agenesis, Enamel hypoplasia, Cleft palate... |
OMIM:613823 |
| Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Bifid uvula, Accessory oral frenulum, Enamel hypoplasia, High, narro... |
ORPHA:2919 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase... |
OMIM:616828 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia |
OMIM:613724 |
| Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Enamel hypoplasia, Absent frontal sinuses, Dental crowding, Dental m... |
OMIM:253250 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperammonemia, Hypercholesterole... |
OMIM:620211 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Carious teeth, Conical incisor |
OMIM:614564 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... |
OMIM:300835 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:612702 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... |
OMIM:207750 |
| Cenani-Lenz Syndactyly Syndrome |
|
Malar flattening, Enamel hypoplasia, Premature loss of permanent teeth, Hypodontia, Micrognathia |
OMIM:212780 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Leukocytosis, Reticulocytosis, Heinz bodies, Un... |
OMIM:300908 |
| Ramon Syndrome |
|
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:3019 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Sjogren-Larsson Syndrome |
|
Flexion contracture, Enamel hypoplasia |
OMIM:270200 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Hyperbilirubinemia, Increased mean corpusc... |
ORPHA:98870 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Widely spaced teeth, Enamel hypoplasia |
OMIM:613573 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp |
OMIM:612843 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Abnormality of dental morphology, Gingival fibromatosis, Everted lower lip vermilion... |
ORPHA:2025 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Abnormality of the dentition, Abnormality of dental morphology, Enamel h... |
ORPHA:69087 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Abnormality of dental m... |
ORPHA:2228 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Enamel hypoplasia, Everted lower lip vermilion, Cleft palate, U-Shaped upper lip v... |
OMIM:619980 |
| Van Der Woude Syndrome 2 |
|
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip |
OMIM:606713 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Anodontia, Mandibular prognathia, Enamel hypoplasia, Hypoplasia of t... |
ORPHA:90322 |
| Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... |
ORPHA:199306 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:244200 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Oligodontia, Malar flattening, Persistence of primary teeth, Microdontia, Enamel h... |
OMIM:618727 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia |
OMIM:615905 |
| Snijders Blok-Campeau Syndrome |
|
High palate, Inguinal hernia, Umbilical hernia, Widely spaced teeth, Taurodontia, Enamel hypoplasia |
OMIM:618205 |
| Oculoskeletodental Syndrome |
|
Oligodontia, Abnormality of the dentition, Retrognathia, Enamel hypoplasia, Microdontia |
ORPHA:557003 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Enamel hypoplasia, Pulp calcification |
OMIM:211900 |
| Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... |
ORPHA:71275 |
| Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypoplasia, Dental malocclusion, Short philtrum, Flexion... |
OMIM:619293 |
| Immunodeficiency 33 |
|
Conical tooth, Hypodontia, Delayed eruption of teeth |
OMIM:300636 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Widely spaced teeth, Enamel hypoplasia, Carious teeth |
OMIM:620193 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
| Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... |
OMIM:238600 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Oligodontia, Hypodontia, Scarring alopecia of scalp, Abnormal dental enamel morphology |
ORPHA:59303 |
| Osteogenesis Imperfecta, Type Xii |
|
High palate, Malar flattening, Narrow mouth, Delayed eruption of teeth, Micrognathia, Dentinogene... |
OMIM:613849 |
| Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Taurodontia, Microdontia, Everted lower lip vermilion, Hypodontia, ... |
ORPHA:1515 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Amelogenesis imperfecta, Gingival fibromatosis, Delayed erupti... |
OMIM:204690 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Anosmia, Hyposmia |
OMIM:243000 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Oligodontia, High palate, Antegonial notching of mandible, Malar flattening, Persistence of prima... |
OMIM:170390 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Anosmia, Choanal atresia, Hyposmia |
OMIM:147950 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters |
ORPHA:79409 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth, Atrophic scars, Atypical scarring of ski... |
ORPHA:79410 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Bifid uvula, Taurodontia, Microdontia, Enamel hypoplasia, Cleft palate, Narrow mou... |
OMIM:129400 |
| Pycnodysostosis |
|
High palate, Abnormality of the dentition, Persistence of primary teeth, Delayed eruption of perm... |
ORPHA:763 |
| Huntington Disease |
|
Abnormality of the sense of smell, Decreased body mass index, Weight loss |
ORPHA:399 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
| 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 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... |
OMIM:278000 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Oligodontia, Misalignment of incisors, Enamel hypoplasia, Cleft palate, Dental crowding, Hypodont... |
OMIM:619184 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Decrease... |
OMIM:616959 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Bilateral cleft lip and palate, Malar flattening, Ankyloglossia, Enamel hypoplasia, ... |
OMIM:618874 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Eunuchoid habitus |
OMIM:308750 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Abnormality of the dentition, Premature loss of primary teeth |
ORPHA:1811 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Amelogenesis imperfecta |
OMIM:614727 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
| Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia, Failure to thrive |
ORPHA:2316 |
| Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
| Qazi-Markouizos Syndrome |
|
Open mouth, Broad philtrum, High, narrow palate, Hypoplasia of teeth |
ORPHA:3010 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Lipoatrophy, Mandibular prognathia, Advanced eruption of teeth, Narrow... |
ORPHA:1133 |
| Jalili Syndrome |
|
Carious teeth, Enamel agenesis, Yellow-brown discoloration of the teeth |
OMIM:217080 |
| Seckel Syndrome 1 |
|
High palate, Selective tooth agenesis, Enamel hypoplasia, Cleft palate, Dental crowding, Dental m... |
OMIM:210600 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Tooth agenesis, Anodontia, Selective tooth agenesis, Aplasia of the maxilla, Agenesi... |
OMIM:313500 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Camptodactyly, Accessory oral frenulum, Hypoplasia of teeth |
ORPHA:88630 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Corneal scarring, Enamel hypoplasia, Oral mucosal blisters, Narrow mouth, Flexion contracture, At... |
OMIM:226600 |
| 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 |
|
Anosmia, Hyposmia, Eunuchoid habitus |
OMIM:308700 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia |
ORPHA:166272 |
| Scarf Syndrome |
|
Inguinal hernia, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental enamel, Long ph... |
ORPHA:3134 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Short nose, Abnormal nostril morphology |
ORPHA:1295 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
| Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Pyriform aperture stenosis, Midnasal stenosis, Anosmia, Abnormal nasopharynx mor... |
OMIM:147250 |
| Bardet-Biedl Syndrome 17 |
|
Anosmia, Hyposmia, Obesity |
OMIM:615994 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Taurodontia, Broad jaw, Cleft palate, Delayed eruption of teeth, Carious teeth, ... |
ORPHA:10 |
| Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
| Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormalit... |
ORPHA:1031 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
| Ohdo Syndrome |
|
Hypoplasia of teeth, Widely spaced teeth, Narrow mouth, Long philtrum, Smooth philtrum, Thin verm... |
OMIM:249620 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology |
ORPHA:3236 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
| Orotic Aciduria |
|
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... |
OMIM:258900 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
| Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth |
OMIM:277440 |
| Craniolenticulosutural Dysplasia |
|
Premature loss of teeth, High palate, Hypoplasia of teeth, Microdontia, Long philtrum, Smooth phi... |
ORPHA:50814 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
| Temple Syndrome |
|
Hypertriglyceridemia, Decreased testicular size, Cryptorchidism, Hypercholesterolemia |
OMIM:616222 |
| Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
| Kohlschutter-Tonz Syndrome-Like |
|
Widely spaced teeth, Amelogenesis imperfecta, Abnormality of dental morphology, Enamel hypoplasia... |
OMIM:619229 |
| Hamamy Syndrome |
|
High palate, Inguinal hernia, Enamel hypoplasia, Everted lower lip vermilion, Dental malocclusion... |
OMIM:611174 |
| Raine Syndrome |
|
High palate, Malar flattening, Mandibular prognathia, Microdontia, Enamel hypoplasia, Cleft palat... |
OMIM:259775 |
| Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Widely spaced primary teeth, Anodontia, Mandibular prognathia, Enam... |
ORPHA:90321 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Hypoplasia of teeth, Dental crowding, Narrow mouth, Hypoplasia of the primary teeth, Long philtru... |
OMIM:257850 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia |
OMIM:614576 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
| Hall-Riggs Syndrome |
|
Thick vermilion border, Downturned corners of mouth, Delayed eruption of teeth, Abnormal dental e... |
ORPHA:2107 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Malar flattening, High palate, Mandibular prognathia, Abnormal dental enamel morphology |
ORPHA:2180 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Abnormality of the dentition, Enamel hypoplasia, Bifid uvula |
OMIM:615802 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:264700 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Abnormality of the sense of smell |
OMIM:616113 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Hypopituitarism, Anisocytosis, Extramedullary hematopoiesis, Hypoparathyroidi... |
ORPHA:231226 |
| Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Microdontia, Enamel hypoplasia, Downturned corners of mouth, Hypodontia,... |
OMIM:617052 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
| Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, High palate, Hypoplasia of teeth, Lipoatrophy, Abno... |
ORPHA:2457 |
| Oculodentodigital Dysplasia |
|
Premature loss of teeth, High palate, Selective tooth agenesis, Joint contracture of the 5th fing... |
OMIM:164200 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Cholesterol gallstones, Hyperchole... |
ORPHA:209902 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Oligodontia, Dorsocervical fat pad, Hypoplasia of teeth, Narrow mouth, Downturned corners of mout... |
ORPHA:391408 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the dentition, Anodontia, Bilateral cleft lip and palate, Hypoplasia of the zygoma... |
ORPHA:3253 |
| Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
| Kufor-Rakeb Syndrome |
|
Anosmia, Hyposmia |
OMIM:606693 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:1782 |
| Temtamy Syndrome |
|
Dental crowding, Long philtrum, Micrognathia, Hypoplasia of teeth |
OMIM:218340 |
| Orofaciodigital Syndrome I |
|
High palate, Agenesis of permanent teeth, Ankyloglossia, Enamel hypoplasia, Tongue nodules, Cleft... |
OMIM:311200 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
| Specific Granule Deficiency 2 |
|
Conical tooth, Amelogenesis imperfecta, Tooth malposition |
OMIM:617475 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... |
OMIM:615558 |
| Cleidocranial Dysplasia 1 |
|
Absent paranasal sinuses, High palate, Hypoplastic frontal sinuses, Malar flattening, Delayed eru... |
OMIM:119600 |
| Ciliary Dyskinesia, Primary, 1 |
|
Anosmia, Recurrent bronchitis, Chronic rhinitis, Nasal polyposis |
OMIM:244400 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Premature loss of teeth, High palate, Hypoplasia of... |
OMIM:608612 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Dysostosis, Stanescu Type |
|
Macroglossia, Abnormality of the dentition, Abnormal palate morphology, Tooth agenesis, Carious t... |
ORPHA:1798 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
| Cleidocranial Dysplasia |
|
Abnormality of the dentition, Hypoplasia of the zygomatic bone, Mandibular prognathia, Abnormal d... |
ORPHA:1452 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Bile duct proliferation, Conjugated hyperbi... |
OMIM:619662 |
| Short Syndrome |
|
Lipodystrophy, Inguinal hernia, Abnormality of the dentition, Malar flattening, Microdontia, Abno... |
ORPHA:3163 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... |
ORPHA:64753 |
| Immunodeficiency 9 |
|
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis |
OMIM:612782 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Codas Syndrome |
|
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:1458 |
| Scarf Syndrome |
|
Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum |
OMIM:312830 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Cleft palate, Macrodontia, Hypodontia, Abnormal dental enamel morphology, ... |
ORPHA:2916 |
| Xfe Progeroid Syndrome |
|
Corneal scarring, Premature loss of teeth, Enamel hypoplasia, Absence of subcutaneous fat |
OMIM:610965 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:289157 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Cryptorchidism, Hypercholesterolemia |
ORPHA:96184 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
| Septo-Optic Dysplasia Spectrum |
|
Anosmia, Obesity |
ORPHA:3157 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased circulating renin level, Hyperuricemia, Increased mean ... |
ORPHA:90041 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Anemia, Polycystic ovaries, Elevated circulating creatine kina... |
ORPHA:264580 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Polycystic ovaries, Elevated circulating creatine kinase concentration, Splenomegaly, Hyp... |
ORPHA:79240 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Hypoplasia of teeth, Widely spaced teeth, Microdontia, Cleft palate |
ORPHA:2728 |
| Pde4D Haploinsufficiency Syndrome |
|
Malar flattening, Mandibular prognathia, Abnormal dental enamel morphology, Long philtrum, Short ... |
ORPHA:439822 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Mandibular prognathia, Taurodontia, Cleft palate, Delayed eruption of teeth, Car... |
ORPHA:96263 |
| Acrootoocular Syndrome |
|
Grayish enamel, Anodontia, High, narrow palate, Dental malocclusion, Supernumerary tooth, Delayed... |
ORPHA:2980 |
| Developmental And Epileptic Encephalopathy 100 |
|
High palate, Enamel hypoplasia, Microdontia, Bilateral camptodactyly, Tented upper lip vermilion,... |
OMIM:619777 |
| 8Q21.11 Microdeletion Syndrome |
|
Abnormality of the sense of smell, Underdeveloped nasal alae, Wide nose |
ORPHA:284160 |
| Refsum Disease |
|
Anosmia |
ORPHA:773 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Microdontia, Micrognathia |
OMIM:112240 |
| Mucopolysaccharidosis Type 4 |
|
Grayish enamel, Abnormality of the dentition, Hernia, Carious teeth, Abnormal dental enamel morph... |
ORPHA:582 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Omphalocele |
OMIM:243150 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Polycystic ovaries, Elevated circulating creatine kinase conce... |
ORPHA:370 |
| Celiac Disease, Susceptibility To, 1 |
|
Recurrent aphthous stomatitis, Enamel hypoplasia, Stomatitis |
OMIM:212750 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
| Acrocallosal Syndrome |
|
Inguinal hernia, Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Thin vermili... |
OMIM:200990 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| 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 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Micrognathia |
ORPHA:2050 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
| Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
ORPHA:412 |
| Trichothiodystrophy |
|
Retrognathia, Hypoplasia of mandible relative to maxilla, Umbilical hernia, Absence of subcutaneo... |
ORPHA:33364 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Retrognathia, Microdontia |
OMIM:210720 |
| Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
| Craniolenticulosutural Dysplasia |
|
High palate, Bifid uvula, Hypoplasia of teeth, Malar flattening, Cleft palate, Long philtrum, Smo... |
OMIM:607812 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Oligodontia, Camptodactyly, Cleft palate, Atypical scarring of skin, Abnormal dental enamel morph... |
OMIM:601701 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Taurodontia, Cleft palate, Delayed eruption of teeth, Carious teeth, Abnor... |
ORPHA:96264 |
| Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Increased circulating prolactin concentration, Thyroid hypoplasia, Decreased thyroid-stim... |
ORPHA:90674 |
| Kallmann Syndrome |
|
Anosmia, Hyposmia, Obesity |
ORPHA:478 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:94089 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Widely spaced teeth, Submucous cleft hard palate, Abnormal dental enamel morpholog... |
ORPHA:1071 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Abnormality of the dentition, Mandibular prognathia, Knee flexion contracture, E... |
OMIM:151050 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
| Cockayne Syndrome A |
|
Hypoplasia of teeth, Mandibular prognathia, Enamel hypoplasia, Reduced subcutaneous adipose tissu... |
OMIM:216400 |
| Hereditary Late-Onset Parkinson Disease |
|
Hyposmia, Weight loss |
ORPHA:411602 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Decreased testicular size, Hypercholesterolemia |
OMIM:610644 |
| Campomelic Dysplasia |
|
Abnormality of the sense of smell, Depressed nasal bridge |
ORPHA:140 |
| Congenital Hypothyroidism |
|
Anosmia, Depressed nasal ridge |
ORPHA:442 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Micrognathia |
OMIM:259420 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:3220 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anosmia, Single naris, Hyposmia, Absent nares |
ORPHA:2250 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Oral mucosal blisters, Scarring, Smooth tongue, Atrophic scars |
ORPHA:79396 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperammonemia, Leukopenia, Hyperglu... |
ORPHA:470 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Conical incisor, Dental malocclusion, Long philtrum, Thin vermilion border, Localized hypoplasia ... |
ORPHA:73223 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Dentinogenesis imperfecta, High palate |
OMIM:616294 |
| Cenani-Lenz Syndrome |
|
Malar flattening, High, narrow palate, Hypodontia, Abnormal dental enamel morphology, Short philtrum |
ORPHA:3258 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Retrognathia, Microdontia, Cleft palate, Abnormal dental enamel morphology, Hypo... |
ORPHA:1812 |
| Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Knee flexion contracture, Enamel ... |
ORPHA:2614 |
| Koolen-De Vries Syndrome |
|
Abnormality of the dentition, Microdontia, Everted lower lip vermilion, Cleft palate, High, narro... |
ORPHA:96169 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Young-Onset Parkinson Disease |
|
Hyposmia |
ORPHA:2828 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lipodystrophy, Camptodactyly, Premature loss of teeth, High palate, Hypoplasia of teeth, Dental c... |
OMIM:248370 |
| Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
| Sanjad-Sakati Syndrome |
|
Abnormality of the dentition, Micrognathia, Long philtrum, Thin vermilion border, Abnormal dental... |
ORPHA:2323 |
| Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypocalcification of dental enamel, Amelogenesis imperfecta |
ORPHA:169090 |
| Corneodermatoosseous Syndrome |
|
Carious teeth, Gingivitis, Abnormal dental enamel morphology |
ORPHA:3194 |
| Treacher-Collins Syndrome |
|
High palate, Abnormality of the dentition, Tooth agenesis, Retrognathia, Hypoplasia of the zygoma... |
ORPHA:861 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Decreased circulating copper concentration, Splenomegaly, Thromboc... |
OMIM:300972 |
| Costello Syndrome |
|
Macroglossia, Abnormality of the dentition, Narrow palate, Abnormal dental enamel morphology, Thi... |
ORPHA:3071 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Open mouth, High palate, Mandibular prognathia, Enamel hypoplasia, Thick vermilion border, Short ... |
OMIM:300896 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Submucous cleft hard palate, Cleft palate, Long philtrum, Smooth philtrum, Thin vermilion border,... |
OMIM:614701 |
| Cranioectodermal Dysplasia 1 |
|
High palate, Inguinal hernia, Anodontia, Widely spaced teeth, Microdontia, Enamel hypoplasia, Eve... |
OMIM:218330 |
| Osteogenesis Imperfecta, Type Xiii |
|
Umbilical hernia, Dentinogenesis imperfecta, Long philtrum, Thin vermilion border |
OMIM:614856 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Retrognathia, Delayed eruption of permanent teeth, Periodontitis, Dentin... |
OMIM:619269 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
| Orofaciodigital Syndrome Type 2 |
|
