| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... |
OMIM:125400 |
| Oligodontia |
|
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... |
ORPHA:99798 |
| Regional Odontodysplasia |
|
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... |
ORPHA:83450 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
| Amelogenesis Imperfecta |
|
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... |
ORPHA:88661 |
| Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia |
OMIM:104530 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Ij |
|
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... |
OMIM:617297 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204700 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
| Tooth Agenesis, Selective, 9 |
|
Selective tooth agenesis, Microdontia, Taurodontia |
OMIM:617275 |
| Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204650 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... |
OMIM:615517 |
| Cleft Lip/Palate |
|
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... |
ORPHA:199306 |
| Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:616221 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization |
OMIM:614832 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth |
OMIM:615887 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia |
OMIM:104510 |
| Cleft Palate, Isolated |
|
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate |
OMIM:119540 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... |
OMIM:620121 |
| Amelogenesis Imperfecta, Type If |
|
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Otodental Dysplasia |
|
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... |
OMIM:166750 |
| Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... |
ORPHA:2972 |
| Liang-Wang Syndrome |
|
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Wide n... |
OMIM:618729 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... |
OMIM:272440 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Dentinogenesis Imperfecta |
|
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... |
ORPHA:49042 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Tricho-Dento-Osseous Syndrome |
|
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... |
ORPHA:3352 |
| Diarrhea 13 |
|
Hypoalbuminemia, Recurrent hypoglycemia |
OMIM:620357 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:2027 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth |
OMIM:125350 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... |
OMIM:313500 |
| Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... |
ORPHA:1193 |
| Florid Cemento-Osseous Dysplasia |
|
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... |
ORPHA:83451 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna... |
OMIM:613684 |
| Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
| Dentinogenesis Imperfecta 1 |
|
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta |
OMIM:125490 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Cardiomyopathy, Increased circulating creatine kinase MM isoform, Hypermethionin... |
OMIM:613752 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia |
OMIM:190320 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Otodental Syndrome |
|
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... |
ORPHA:2791 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth |
OMIM:183300 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Incisor macrodontia, Thin upper lip vermilion, Widely-spaced maxillary centr... |
OMIM:619719 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Short philtrum, Incisor macrodontia, Micrognathia, Thick vermilion border, O... |
ORPHA:166108 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... |
OMIM:610947 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum |
OMIM:615502 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... |
OMIM:300602 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short nose, Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Abnormality of t... |
ORPHA:363417 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... |
OMIM:603358 |
| Developmental And Epileptic Encephalopathy 66 |
|
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Wide n... |
OMIM:618067 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Enamel hypoplasia, Carious teeth, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... |
ORPHA:1028 |
| Nance-Horan Syndrome |
|
Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar |
OMIM:302350 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
ORPHA:79406 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia |
OMIM:610706 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Thin vermilion border, Hypoplasia of the primary teeth, Long nose, Delayed eruption of teeth, Den... |
OMIM:257850 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum |
OMIM:605282 |
| Pyle Disease |
|
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front... |
OMIM:265900 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Carious teeth |
OMIM:161000 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
ORPHA:79405 |
| Eem Syndrome |
|
Widely spaced teeth, Selective tooth agenesis, Microdontia, Abnormal dental morphology, Carious t... |
ORPHA:1897 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Elevated hepatic iron concentration, Increased circulating iron concentration |
OMIM:206100 |
| Lowry-Maclean Syndrome |
|
Retrognathia, High, narrow palate, Short nose, Talon cusp, Hypoplasia of the maxilla, Downturned ... |
ORPHA:2409 |
| Hyperferritinemia With Or Without Cataract |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... |
OMIM:600886 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c |
OMIM:616511 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Hemochromatosis, Type 4 |
|
Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabetes mellitus, Elevated tran... |
OMIM:606069 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... |
OMIM:620632 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia |
OMIM:246700 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... |
ORPHA:1811 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... |
ORPHA:103910 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth |
OMIM:620114 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Wide ... |
ORPHA:438216 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone |
ORPHA:3145 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... |
ORPHA:1946 |
| Orofaciodigital Syndrome Type 2 |
|
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... |
ORPHA:2751 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma... |
ORPHA:364028 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Alg1-Cdg |
|
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Open mouth, Macrodo... |
OMIM:216550 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... |
ORPHA:2298 |
| Marshall Syndrome |
|
Short nose, Thick lower lip vermilion, Absent frontal sinuses, Thick upper lip vermilion, Bifid u... |
OMIM:154780 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Dilated cardiomyopathy |
OMIM:618805 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
| Tooth Agenesis, Selective, 3 |
|
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov... |
OMIM:235510 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... |
OMIM:616050 |
| Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... |
OMIM:613313 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia |
OMIM:616730 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short nose, Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ... |
ORPHA:364577 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle, Hypoalbuminemia,... |
ORPHA:1667 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
| Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Long philtrum, Dental malocclusion, Wide nasal bridge, Macrodontia of permanent max... |
ORPHA:444072 |
| Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... |
ORPHA:199302 |
| Mody |
|
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,... |
ORPHA:552 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Congenital Syphilis |
|
High palate, Notched primary central incisor, Semilunar tooth, Mulberry molar, Hyperplasia of the... |
ORPHA:499009 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect |
OMIM:608776 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Odontoonychodermal Dysplasia |
|
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... |
OMIM:257980 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
| Beaulieu-Boycott-Innes Syndrome |
|
Long nose, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dental malocclusion |
OMIM:613680 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Perimembranous ventricular septal... |
OMIM:608104 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... |
OMIM:150400 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... |
OMIM:242150 |
| Orofaciodigital Syndrome Ii |
|
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... |
OMIM:252100 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thin vermilion border, Conical incisor, Maxillary lateral incisor microdontia, Micrognathia, Long... |
ORPHA:73223 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... |
ORPHA:766 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia |
OMIM:616202 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Ventricular septal defect, Overriding aorta |
OMIM:617021 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of the dentition, ... |
ORPHA:289 |
| Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
| Orofacial Cleft 15 |
|
Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip |
OMIM:616788 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Elsahy-Waters Syndrome |
|
Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Delayed eruption of teeth, M... |
OMIM:211380 |
| Pycnodysostosis |
|
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... |
OMIM:265800 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hyperammonemia, Pericardial effusion, Hypoalbuminemia |
ORPHA:292 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Abnormal cardiomyocyte morphology |
ORPHA:367 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hypoglycemia |
OMIM:617093 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Cleft lip, Notched primary central incisor |
OMIM:620519 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hypoglycemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:618329 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morphology, Monoclonal ... |
ORPHA:85443 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... |
ORPHA:158061 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Hypodontia, Carious teeth, Microdontia, Conical tooth |
OMIM:620192 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... |
OMIM:603553 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Neonatal hypoglycemia, Hypog... |
OMIM:619055 |
| Amelogenesis Imperfecta, Type Ig |
|
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... |
OMIM:204690 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects |
OMIM:615508 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Upper lip pit, Agenesis of maxillary central incisor |
ORPHA:2804 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypoglycemi... |
OMIM:617156 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Arthrogryposis, Distal, Type 12 |
|
Dental crowding, High palate, Agenesis of maxillary incisor |
OMIM:620545 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concent... |
OMIM:251880 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Pericardial effusion, Hypomagnesemia, Hypoalbum... |
OMIM:618183 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Hypoalbuminemia, Constrictive pericarditis |
ORPHA:67 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Rubinstein-Taybi Syndrome 1 |
|
Narrow palate, Retrognathia, High, narrow palate, Dental crowding, Narrow mouth, Talon cusp, High... |
OMIM:180849 |
| Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:1031 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration |
ORPHA:540 |
| Alg12-Cdg |
|
Muscular ventricular septal defect, Patent foramen ovale, Hyponatremia, Recurrent hypoglycemia, H... |
ORPHA:79324 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:617303 |
| Doors Syndrome |
|
Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridges, Short lingu... |
ORPHA:79500 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin vermilion border, Short nose, Short philtrum, Narrow mouth, Abnormality of the dentition, Mi... |
ORPHA:363611 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Hypoalbuminemia, Pericarditis, Left ventricular hypertrophy |
OMIM:619487 |
| Cornelia De Lange Syndrome 6 |
|
Long philtrum, Short nose, Cleft lip, Macrodontia of permanent maxillary central incisor |
OMIM:620568 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease... |
ORPHA:89842 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Pericardial effusion, Pericarditis, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
| Chand Syndrome |
|
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... |
ORPHA:1401 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... |
ORPHA:37042 |
| Holoprosencephaly 9 |
|
Agenesis of incisor, Short nose, Thick lower lip vermilion, Solitary median maxillary central inc... |
OMIM:610829 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, E... |
ORPHA:36234 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul... |
ORPHA:14 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypergalactosemia, Pulmonic stenosis, Increased circulating iron... |
OMIM:222470 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Narrow palate, Supernumerary tooth, Dental crowding, Talon cusp, Carious teeth, Natal tooth, Hypo... |
ORPHA:353281 |
| Arboleda-Tham Syndrome |
|
Short philtrum, Peg-shaped maxillary lateral incisors, Mandibular prognathia, Narrow mouth, Downt... |
OMIM:616268 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Cerebral arteriov... |
OMIM:175050 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent foramen ovale, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia, At... |
ORPHA:505248 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Reduced circulating transferrin concentration, Hy... |
ORPHA:90363 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Carious teeth, Micr... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Carious teeth, Micr... |
ORPHA:353277 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Peters-Plus Syndrome |
|
Thin vermilion border, Widely spaced teeth, Conical incisor, Short lingual frenulum, Exaggerated ... |
OMIM:261540 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet... |
OMIM:149730 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Atrial septal defect, Abnormal heart morphology |
ORPHA:79076 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Glycosuria, ... |
OMIM:277900 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft lower alveolar ridge, High palate, Narrow mouth, Cleft mandible, Micrognathia, Pierre-Robin... |
OMIM:268305 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cirrhosis, Hepatic arteriovenous malformation, Arteriovenous malformation, Gastrointestinal arter... |
ORPHA:774 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatinine concentration, Hypokalemia, Hyperamylasemia, Elevated circulating... |
ORPHA:99826 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... |
ORPHA:186 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| Kawasaki Disease |
|
Myocarditis, Elevated circulating C-reactive protein concentration, Abnormal heart valve morpholo... |
ORPHA:2331 |
| Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:465508 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Cirrhosis, Hepatic arteriovenous malformation, Spinal arteriovenous malformation... |
OMIM:187300 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Type I diabetes mellitus |
ORPHA:171 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic dissection, Abnormal venous mor... |
ORPHA:1900 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
| Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Elevated circulating 7-dehydrocholesterol conc... |
OMIM:270400 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Situs inversus totalis, Atrioventricular canal defect, Inlet ventricular septal defect, Dextrocar... |
OMIM:619534 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Agenesis of incisor, Widely spaced teeth, Short philtrum, Mandibular prognathia, Ankyloglossia, M... |
OMIM:619841 |
| Beta-Thalassemia Intermedia |
|
Elevated hepatic iron concentration, Abnormality of iron homeostasis |
ORPHA:231222 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Restrictive card... |
ORPHA:75565 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Ischemic stroke, Spinal arteriovenous malformation, Cirrhosis, Hepatic arteriovenous malformation... |
OMIM:600376 |
| Bloom Syndrome |
|
Agenesis of maxillary lateral incisor, Malar flattening |
OMIM:210900 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... |
ORPHA:309854 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Arteriovenous malformation, Hepatic arteriovenous malformation, Transie... |
ORPHA:2929 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
| Pmm2-Cdg |
|
Hyperinsulinemia, Reduced thyroxin-binding globulin, Hypertrophic cardiomyopathy, Pericardial eff... |
ORPHA:79318 |
| Microphthalmia, Syndromic 1 |
|
Orofacial cleft, High, narrow palate, Tooth malposition, Dental crowding, High palate, Cleft uppe... |
OMIM:309800 |
