Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor |
OMIM:614278 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Nephronophthisis |
|
Abnormality of retinal pigmentation, Anemia |
ORPHA:655 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:53 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Melanocytic nevus, Anemia, Decreased skull ossification, Thrombocytopenia |
ORPHA:3319 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Failure to thrive, Micrognathia, Cleft upper lip, Cleft palate, Persistence of... |
OMIM:612561 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Carious teeth, Spl... |
OMIM:259700 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Thick upper lip vermilion, Neutropenia |
OMIM:612563 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus... |
OMIM:300946 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to... |
ORPHA:172 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Glutathione Synthetase Deficiency |
|
Intention tremor, Hemolytic anemia, Pigmentary retinopathy, Neutropenia |
OMIM:266130 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mo... |
OMIM:617052 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Gingival bleeding, Impaired ristocetin-... |
OMIM:231200 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:1873 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy |
ORPHA:1995 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil nuclei, ... |
OMIM:169400 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteoscleros... |
OMIM:244460 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Smooth philtrum, Thrombocytopenia, Increased size of the mandible, Increased mean platelet volume |
OMIM:300048 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Abnormal dental morphology, Selective tooth agenesis, Cariou... |
ORPHA:1897 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Sinusitis, Hypopigmented skin patches, Weight loss, Anemia, Arthritis, Glossoptosi... |
ORPHA:47 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Carious teeth, Osteoporosis, Reticular hyperpigmentation, Anemia, Leukopenia, Pr... |
OMIM:127550 |
Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... |
OMIM:609628 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag... |
OMIM:127000 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D... |
OMIM:616108 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Mi... |
OMIM:259720 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Dec... |
ORPHA:93324 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Takenouchi-Kosaki Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Increased mean platelet volume, Dental malocclusion, O... |
OMIM:616737 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Carious teeth, Abnormal retinal vascular morphology, Joint h... |
ORPHA:1390 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hyperpigmentation of the skin, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis, An... |
OMIM:175500 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Failure to thrive in infancy, Anemia, Abnormality of retinal pigmentation |
ORPHA:858 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Optic nerve hypoplasia, Micrognathia, Wide mouth, Increased mean corpuscular vol... |
ORPHA:261250 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures, Abnormality o... |
ORPHA:436 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Failure to thrive in infancy, Micrognathia... |
OMIM:611209 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca... |
ORPHA:2785 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Generalized dystonia, Optic disc pallor |
OMIM:619389 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Filippi Syndrome |
|
Dystonia, Optic atrophy, Thin vermilion border, Short philtrum, Hypodontia, Decreased body weight... |
OMIM:272440 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu... |
ORPHA:811 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, Hy... |
ORPHA:506353 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Cleft palate, Increased mean corpuscular volume, Neu... |
OMIM:612562 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Micrognathia, Increas... |
OMIM:600462 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia, Joint stiffness, Opti... |
ORPHA:1466 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Lathosterolosis |
|
Thick upper lip vermilion, Increased mean platelet volume, Acanthocytosis, Micrognathia, Schistoc... |
OMIM:607330 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... |
OMIM:216550 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Recurrent fractures, Abnormality of the dentition, Cranial h... |
ORPHA:2801 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Recu... |
OMIM:212750 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Abnormality of the dentition, Pigmentary retinopathy, Neonatal hyperbi... |
ORPHA:3363 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... |
OMIM:264700 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Elevated circulating creatine kinase concentration |
OMIM:617613 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic t... |
OMIM:612462 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition,... |
ORPHA:93160 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia... |
ORPHA:2521 |
Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Decreased circulating cerulo... |
ORPHA:48818 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration |
OMIM:275400 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susc... |
ORPHA:289157 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Abnormality of the dentition, Oligodontia, Hypocalcemia, Microdontia, Enamel hypop... |
ORPHA:557003 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Hype... |
ORPHA:94089 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased circu... |
OMIM:614307 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal d... |
ORPHA:36913 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Narrow mouth, Wide mouth... |
OMIM:222470 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ch... |
ORPHA:247353 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Persistence of primary teeth, Carious teeth, Retinal calcification, Cortical thicken... |
ORPHA:93325 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Hyperpigmentation in sun-exposed areas, Abnormal dental morphology, Interphalangeal joint contrac... |
ORPHA:69087 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor... |
ORPHA:848 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Widely spaced teeth, Everted l... |
OMIM:618067 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density |
ORPHA:3156 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Micr... |
ORPHA:124 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Microdontia, Iris ... |
ORPHA:231178 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia |
OMIM:264470 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth... |
ORPHA:667 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion... |
ORPHA:90362 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Spotty hypopigmentati... |
OMIM:619719 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Increased mean platelet vo... |
ORPHA:487796 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss |
ORPHA:69077 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal dental enamel morphology, Obesity,... |
ORPHA:251004 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Micrognathia, Thin vermilion border, Hypocalcemia, Long philtrum |
ORPHA:1438 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:886 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Hyperpigmentation of the skin, Splenomegaly, Osteoly... |
OMIM:263700 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Spinocerebellar Ataxia 7 |
|
Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia |
ORPHA:163693 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Thin vermilion ... |
OMIM:241410 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Abnormality of retinal pigmentation |
ORPHA:2515 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94090 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Gracile Bone Dysplasia |
|
Failure to thrive, Asplenia, Hypocalcemia, Hypoplastic spleen, Decreased skull ossification, Anky... |
OMIM:602361 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Gingival bleedin... |
ORPHA:274 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia |
ORPHA:251393 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of retinal pigmentation, Anemia |
ORPHA:290 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Hypopigmentation of the skin, Hyper... |
ORPHA:79277 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Failure to thrive, Congenital hypoplastic anemia, Micrognathia, Cleft upper li... |
OMIM:105650 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of retinal pigmentation, Abnormality of the dentition |
ORPHA:1264 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Furrowed tongue |
ORPHA:2743 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Optic atro... |
OMIM:618476 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Macroglossia, ... |
OMIM:618440 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Dystonia, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Fractures of ... |
ORPHA:157850 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopathy, Thromb... |
OMIM:222300 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy, High palate |
OMIM:616606 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninemia, Attenuation of reti... |
OMIM:204000 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit... |
ORPHA:2323 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Abnormality of the dentition, Inc... |
OMIM:241500 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ... |
ORPHA:2980 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Failure to thrive, Osteoporosis |
OMIM:618234 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental m... |
OMIM:253250 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Micrognathia, Splenomegaly, Optic atrophy, Hypokalemia, Hig... |
OMIM:617913 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent med... |
OMIM:300602 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Obesity, Reduced bone mine... |
ORPHA:79443 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Tented upper lip vermilion, Hypocalcemia |
OMIM:606407 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Small for gestational age, Increased mean platelet volume, Splenomegaly... |
ORPHA:84064 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Recurrent fractures, Hypophosphatemic rickets, Hypopigme... |
OMIM:163200 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... |
ORPHA:94093 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Optic atrophy, Cleft palate, Radioulnar s... |
OMIM:605282 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Lip discoloration, Limb dystonia, Methemoglobinemia |
ORPHA:621 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Obesity, Hyperphosphatemia... |
ORPHA:79444 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Neutropenia, Gingival overgro... |
ORPHA:175 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Pigmentary retinopathy, Multiple joint contractures, Elevated c... |
ORPHA:370968 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Joint hypermobility, Carious teeth, Overweight, Tremor, Obesity, Widel... |
OMIM:619229 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Abnormality of the tongue, Weight loss, Opisthotonus, In... |
ORPHA:216866 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil... |
ORPHA:1193 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... |
ORPHA:37042 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Abnormal circulating porphyrin concent... |
ORPHA:95159 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Malar prominence, Abnormal retinal va... |
ORPHA:2715 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Hypermelanotic macule, Delayed eruption of primary... |
ORPHA:90321 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Micrognathia, Splenomegaly, Alveolar ridge overgrowth, Cleft palate, Hi... |
OMIM:235255 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Small for gestational age, Hyperpigmentation of the skin, Splenome... |
ORPHA:699 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Retinal detachment, Small for gestational age, Short philtrum, Hypocalc... |
OMIM:607143 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of ... |
ORPHA:193 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Elevated circulating creatine kinase concentration |
OMIM:619473 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity |
ORPHA:791 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati... |
OMIM:620366 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hyp... |
ORPHA:428 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep... |
OMIM:145350 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Dystonia |
OMIM:252011 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:2136 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, H... |
OMIM:103580 |
Timothy Syndrome |
|
Microdontia, Thin upper lip vermilion, Hypocalcemia |
OMIM:601005 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Micrognathia, Microcytic anemia, Flexion contracture, High palate, Malar flatt... |
ORPHA:98791 |
Diprosopus |
|
Abnormality of retinal pigmentation, Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Rickets, Red... |
OMIM:613658 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Limited wrist extension, Distal arthrogryposis, High palate,... |
OMIM:108145 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Hand tremor |
ORPHA:100996 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Macroglossia, Pigmentary... |
OMIM:613156 |
Joubert Syndrome 28 |
|
Joint laxity, Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Cln3 Disease |
|
Pigmentary retinopathy, Vacuolated lymphocytes, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Delay... |
ORPHA:2409 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Micrognathia, Splenomegaly, Alveolar ridge overgrowth, Hepatosplenomega... |
ORPHA:1655 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy, Joint contracture of ... |
OMIM:609033 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Failure to thrive... |
OMIM:239200 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Cleft palate, Anemia, Short ph... |
ORPHA:163979 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Micrognathia, Carious teeth, Splenomegaly, Reduced bone mine... |
ORPHA:742 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Decre... |
ORPHA:666 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Failure to thrive in infancy, Hypocalcemia |
ORPHA:746 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy |
ORPHA:141 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Anisocytosis, Leukocytosis, Hepat... |
OMIM:618278 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Tremor, Hyperho... |
OMIM:277400 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Abnormality of the dentition, Osteoporosis, Obesity, Reduced bone mineral de... |
ORPHA:2235 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat... |
ORPHA:352540 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Grayish enamel, Carious teeth, R... |
ORPHA:582 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Obesity |
OMIM:245800 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Tented upper lip vermilion, Dystonia, Retinal pigment epithelial mottling... |
OMIM:614105 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:600151 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Failure to thrive, Eosinophilia, Hypercalcemi... |
ORPHA:199299 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Short philtrum, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocy... |
OMIM:603585 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal palate morphology |
ORPHA:44 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormality of retinal pigmentation, Abnorm... |
ORPHA:192 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Retinal dystrophy, Sagittal craniosynostosis, High, narrow palate, Osteoporosis, Hi... |
OMIM:218330 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Micrognathia, Brushfield spots, Optic nerve dysplasia, Cleft palate, Pigmentar... |
OMIM:214110 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Short philtrum, Abnormal dental enamel morp... |
ORPHA:567 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Fa... |
ORPHA:5 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Obesity |
ORPHA:3085 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea... |
ORPHA:160 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Slender build, Narrow palate, Short upper lip, Thick vermili... |
ORPHA:364028 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation, Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... |
ORPHA:249 |
Non-Functioning Paraganglioma |
|
Tremor, Hypertensive retinopathy, Hypercalcemia, Weight loss |
ORPHA:94080 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Mandibular prognathia, Joint stiffness, Grayish enamel, Carious teeth, Osteoporosis... |
OMIM:253010 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, H... |
OMIM:192430 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Mandibular prognathia, Grayish enamel, Carious teeth, Osteoporosis, Wide mouth, Wid... |
OMIM:253000 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Micrognathia, Persistence of hemoglobin F, Everted lower lip vermilion,... |
OMIM:617101 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, High palate |
ORPHA:329336 |
Leigh Syndrome |
|
Pigmentary retinopathy, Failure to thrive, Optic atrophy, Dystonia |
OMIM:256000 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Optic atrophy, Blepharospasm, Athetosis, Pigmentary re... |
OMIM:617282 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Cleft palate, Hypocalcemia, Narrow mouth, Failure to thrive |
ORPHA:3426 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Mucolipidosis Type Iv |
|
Microdontia, Abnormality of retinal pigmentation, Everted lower lip vermilion, Retinopathy |
ORPHA:578 |
Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Failure to thrive, Abnormal... |
ORPHA:14 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Failur... |
OMIM:560000 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Limitation of joint mobility, Gingival fibromatosis, Osteolysis, Irregu... |
ORPHA:2591 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de... |
OMIM:615986 |
Ataxia With Vitamin E Deficiency |
|
Tremor, Abnormality of retinal pigmentation, Dystonia |
ORPHA:96 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Flexio... |
OMIM:309900 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia |
OMIM:619059 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Large for gestational age, Albinism, Polycythemia, Hypopigmentati... |
OMIM:600501 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia, Cleft palate, Micrognathia |
ORPHA:2306 |
Marshall Syndrome |
|
Retinal detachment, Malar flattening, Micrognathia, Absent frontal sinuses, Knee osteoarthritis, ... |
OMIM:154780 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Joint stiffness, Optic atrophy, High palate, Hypopigmentatio... |
ORPHA:1493 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Macular coloboma, Megaloblastic anemi... |
ORPHA:79282 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Retinal pigment epithelial mottling |
OMIM:619517 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Joint stiffness, Splenomegaly, Optic atrophy, Smooth philtrum |
ORPHA:585 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy, High palate, Failure to thrive, Anemia |
OMIM:220110 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Osteomyelitis, Truncal titubation, Rod-cone dystrophy, P... |
ORPHA:88628 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Failure to thrive |
OMIM:222765 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic arthritis, Throm... |
ORPHA:544482 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Retinal pigment epithelial mottling, Thick vermilion border, Widely spaced teeth |
OMIM:617102 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Failure to thrive, Optic atrophy, Anemia |
ORPHA:436271 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat... |
OMIM:620114 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Abnormality o... |
ORPHA:438216 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Pigmentary retinopathy |
OMIM:530000 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight, Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hypercalcemia, Micrognathia, Knee flexion contracture, Hypophosphate... |
OMIM:156400 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... |
ORPHA:289176 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... |
OMIM:613280 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Joint stiffness, Flexion contracture, Optic atrophy, Hepatos... |
ORPHA:505248 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Micrognathia, Joint stiffness, Optic atrophy, High palate, S... |
ORPHA:2510 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, T lymphocytopenia, Coomb... |
ORPHA:83471 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Optic ne... |
OMIM:612301 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Micrognathia, Tremor, Generalized joint laxity, Pigmentary retinopathy, High p... |
ORPHA:502423 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R... |
OMIM:268315 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Weight loss, Knee flexion contracture |
ORPHA:3208 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Narrow mouth, Gingival overgrowth, Retrognathia, Narrow palate, Conica... |
OMIM:235510 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Open mouth, Retinal dystrophy |
OMIM:608629 |
Refsum Disease |
|
Retinopathy, Splenomegaly, Abnormality of retinal pigmentation |
ORPHA:773 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, De... |
OMIM:619503 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Failure to thrive, Limb joint contracture, Small for ... |
ORPHA:404454 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Hypercalcemia, Micrognathia, Abnormality of the dentition, Tremor, Eruption fail... |
ORPHA:476126 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Micrognathia, Conjugated hyperbilirubinemia, Splenomegaly, Rod-cone dy... |
OMIM:614866 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Micrognathia, Malar prominence, Cleft upper lip, Deep phi... |
OMIM:251260 |
Gitelman Syndrome |
|
Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure... |
ORPHA:358 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, ... |
OMIM:617675 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c... |
OMIM:615994 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Tented upper lip vermilion, Dental crowding, Cleft upper lip, Pigmentary retinopath... |
OMIM:612582 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Increased bone mineral density, Joint stiffness, Osteoporosi... |
ORPHA:902 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Tented upper lip vermilion, Micrognathia, Triangular mouth, Pigmentary retinop... |
OMIM:618460 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:605231 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Cockayne Syndrome |
|
Congenital contracture, Retinal arteriolar constriction, Retinal degeneration, Intention tremor, ... |
ORPHA:191 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Retinal atrophy, Delayed eruption of primary teeth, Cario... |
OMIM:216400 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormali... |
OMIM:203800 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:1496 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Failure to thrive, Hypercalcemia, Thiamine-responsive megaloblas... |
ORPHA:85138 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Rickets |
OMIM:219900 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ... |
ORPHA:95409 |
Liver Disease, Severe Congenital |
|
Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, T... |
OMIM:619991 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Lowry-Wood Syndrome |
|
Small for gestational age, Elbow flexion contracture, Pigmentary retinopathy, Thick vermilion bor... |
OMIM:226960 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Dystonia, Macrodontia of permanent maxillary central incisor, Retrognathia, ... |
ORPHA:466722 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Abnormal hemoglobin, Joint stiffness, Abnormality of the dentition, F... |
ORPHA:847 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Angioid streaks of the fundus, Hyperostosis, Subperiosteal bone formation, Hyperphosp... |
OMIM:211900 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Micrognathia, Hypoplastic frontal sinuses, Cleft palate, Short philtrum... |
OMIM:300712 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Axillary freckling, Hypertensive retinopathy, Hypercalcemia, Cafe-au-lait spot |
OMIM:171420 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Cleft palate, Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperpigmentation of the skin, Acanthocytosis, Tremor, Optic atrophy, Blepharospasm, Choreoatheto... |
OMIM:234200 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Pigmentary retinopathy, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
Cockayne Syndrome B |
|
Mandibular prognathia, Small for gestational age, Delayed eruption of primary teeth, Carious teet... |
OMIM:133540 |
Digeorge Syndrome |
|
Micrognathia, Splenomegaly, High, narrow palate, Obesity, Cleft palate, Anemia, Hypoplasia of the... |
OMIM:188400 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Enamel hypoplasia, Vi... |
OMIM:240300 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, Cr... |
ORPHA:330015 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Dental crowding, Recurrent fractures, Jo... |
ORPHA:394 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Micrognathia, Protruding tongue, High, narrow palate, Brushfield spots, Epiphy... |
OMIM:214100 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Craniosynostosis, Mi... |
ORPHA:369837 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Limit... |
ORPHA:580 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypertensive retinopathy, Hypercalcemia, Weight loss |
ORPHA:276621 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Few cafe-au-lait spots, ... |
OMIM:620330 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:2163 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Protruding tongue, Absent frontal sinuses, Diastema, Reduced alpha/beta sy... |
OMIM:301040 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Exaggerated cupid's bow, Micrognathia, Cleft palate, Downturned corners of mouth, Pigmentary reti... |
OMIM:614230 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Weight loss |
ORPHA:97289 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... |
ORPHA:71212 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Abnormality of retinal pigmentation, Block vert... |
ORPHA:50 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive in infanc... |
OMIM:219800 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal dental morphology, Camptodactyly of fi... |
ORPHA:217085 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Igg4-Related Thyroid Disease |
|
Sialadenitis, Hypocalcemia |
ORPHA:64744 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Joint stiffness |
ORPHA:1824 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Pigmentar... |
OMIM:613154 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal dental morphology, Camptodactyly of fi... |
ORPHA:217093 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Dental crowding, Retinal dystrophy, Hyperautofluorescent... |
OMIM:209900 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia... |
ORPHA:444072 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Abnormality of dermal melanosomes, Dental malocclusion, L... |
ORPHA:73223 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,... |
ORPHA:411629 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Obesity |
OMIM:612291 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:616562 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Abnormality of retinal pigmentation, Block vertebrae, Tarsal synostosis, Capita... |
OMIM:272460 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Joint stiffness, Abnormality of the dentition, Splenomegaly, Flexion c... |
ORPHA:581 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Sagittal craniosynostosis, Abnormality of the d... |
ORPHA:79500 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia, Tremor, Weight loss, Retinal capillary hemangioma |
ORPHA:29072 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Chorioretinal lacunae, Retinal pigment epithe... |
OMIM:618733 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... |
ORPHA:1969 |
Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Gingival fibromatosis, Narrow palate, Pigmentary re... |
OMIM:266270 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia |
OMIM:600740 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Melas |
|
Optic atrophy, Pigmentary retinopathy, Failure to thrive, Anemia, Vitiligo |
ORPHA:550 |
Trisomy 18 |
|
Microretrognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Cachexia, Non-mi... |
ORPHA:3380 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Cleft palate, Reti... |
ORPHA:790 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Hype... |
ORPHA:79474 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation, Tongue atrophy, Tremor, Tongue tremor, Joint contracture of ... |
ORPHA:466768 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormal dental enamel morphology, Chorio... |
ORPHA:2556 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Obesity |
ORPHA:110 |
Glucagonoma |
|
Hypercalcemia, Acanthocytosis, Weight loss, Normochromic anemia, Stomatitis, Glossitis |
ORPHA:97280 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Monosomy 13Q34 |
|
Obesity, Hypercalcemia, Micrognathia |
ORPHA:96168 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Spotty hypopigmentation, Agenesis of maxillar... |
OMIM:210900 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... |
ORPHA:744 |
Hardikar Syndrome |
|
Cleft soft palate, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Bilateral cleft... |
OMIM:301068 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Denta... |
ORPHA:353281 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Fair hair, Small for gestational age, Increased VLDL cholesterol concentration, Con... |
OMIM:243800 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Craniosynostosis, O... |
OMIM:616268 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Charge Syndrome |
|
Micrognathia, Cleft upper lip, Cleft palate, Retinal coloboma, Hypocalcemia, Malar flattening, Ly... |
OMIM:214800 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Recurrent fractures, Joint st... |
ORPHA:636 |
Vipoma |
|
Normochromic anemia, Hypokalemia, Hypercalcemia, Weight loss |
ORPHA:97282 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Rod-cone dystrophy, Low plasma citrulline, Optic atrophy, Pigmentary retinopathy, Dystonia, Hyper... |
ORPHA:255210 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Thin upper lip vermilion, Small for gestational age, Craniosynostosis, Abnormality of... |
ORPHA:363611 |
Pheochromocytoma |
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Cafe-au-lait spot, Hypertensive retinopathy, Hypercalcemia |
OMIM:171300 |
Bartter Syndrome, Type 1, Antenatal |
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Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
Williams Syndrome |
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Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Microdontia... |
ORPHA:904 |
Sarcoidosis |
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Hemolytic anemia, Parotitis, Eosinophilia, Hypercalcemia, Hyperpigmentation of the skin, Increase... |
ORPHA:797 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Peters-Plus Syndrome |
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Joint laxity, Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Craniosynost... |
OMIM:261540 |
Somatostatinoma |
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Hypercalcemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:97283 |
Orofacial Cleft 15 |
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Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Xeroderma Pigmentosum, Complementation Group B |
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Pigmentary retinopathy, Freckling, Optic atrophy |
OMIM:610651 |
Night Blindness, Congenital Stationary, Type 1B |
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Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
W Syndrome |
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Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... |
ORPHA:2804 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Parathyroid Carcinoma |
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Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Mandibular pain |
ORPHA:143 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Holoprosencephaly 9 |
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Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Incisors, Lower Central, Absence Of |
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Agenesis of mandibular central incisor |
OMIM:147330 |
Trichothiodystrophy 2, Photosensitive |
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Agenesis of maxillary lateral incisor |
OMIM:616390 |
Central Incisors, Absence Of |
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Agenesis of central incisor |
OMIM:302400 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Optic disc hypoplasia, Tremor, Downturned corners of mouth, Short philtrum, Premature... |
ORPHA:3455 |
Isolated Cleft Lip |
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Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... |
ORPHA:199302 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Retinal pigment epithelial mottling, Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Williams-Beuren Syndrome |
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Osteopenia, Joint laxity, Failure to thrive in infancy, Hypercalcemia, Retinal arteriolar tortuos... |
OMIM:194050 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Osteoporosis, Hypercalcemia, Mandibular pain, Hypophosphatemia |
ORPHA:99880 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353277 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Abnormality of dental color, Hypertriglyceridemia, Re... |
ORPHA:64 |
Tooth Agenesis, Selective, 4 |
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Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Conical incisor |
OMIM:300291 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Abnorm... |
ORPHA:821 |
Multiple Endocrine Neoplasia Type 1 |
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Hypercalcemia, Gingival fibromatosis, Osteolysis, Increased susceptibility to fractures, Reduced ... |
ORPHA:652 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Septo-optic dysplasia, Microgna... |
OMIM:619841 |
Multiple Endocrine Neoplasia Type 2 |
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Joint laxity, Abnormal tongue morphology, Thick vermilion border, Hypercalcemia |
ORPHA:653 |
Multiple Endocrine Neoplasia, Type I |
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Cafe-au-lait spot, Hypercalcemia |
OMIM:131100 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy, Hypercholesterolemia, Failur... |
OMIM:118450 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Pigmentary retinopathy, Cleft palate |
OMIM:309801 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Small for gestational age, Pigmentary retinopathy, Narrow mouth, Hyperchole... |
OMIM:606721 |
Ppoma |
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Hypercalcemia, Weight loss |
ORPHA:97278 |
Grfoma |
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Hypercalcemia, Weight loss |
ORPHA:97261 |
Zollinger-Ellison Syndrome |
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Hypercalcemia, Weight loss |
ORPHA:913 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, 4-5 metacarpal synostosi... |
OMIM:268305 |
Chand Syndrome |
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Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Cancer-Associated Retinopathy |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Multiple Endocrine Neoplasia Type 4 |
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Hypercalcemia |
ORPHA:276152 |
Microphthalmia, Syndromic 1 |
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Dental crowding, Cleft upper lip, High, narrow palate, Optic disc coloboma, Orofacial cleft, Agen... |
OMIM:309800 |