| Ethanolaminosis |
|
|
OMIM:227150 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
|
ORPHA:88643 |
| Attrv30M Amyloidosis |
|
|
ORPHA:85447 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
|
OMIM:617713 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
|
OMIM:618052 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
|
OMIM:618654 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
|
OMIM:613576 |
| Congenital Tricuspid Valve Dysplasia |
|
|
ORPHA:555874 |
| Carnitine Deficiency, Systemic Primary |
|
|
OMIM:212140 |
| Infantile Sialic Acid Storage Disease |
|
|
OMIM:269920 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
|
OMIM:619064 |
| Congenital Toxoplasmosis |
|
|
ORPHA:858 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
|
OMIM:300886 |
| Familial Atrial Myxoma |
|
|
ORPHA:615 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
|
OMIM:115197 |
| Danon Disease |
|
|
OMIM:300257 |
| Timothy Syndrome |
|
|
OMIM:601005 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
|
OMIM:619170 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
|
OMIM:600649 |
| Mulibrey Nanism |
|
|
OMIM:253250 |
| Cantu Syndrome |
|
|
OMIM:239850 |
| Neurooculocardiogenitourinary Syndrome |
|
|
OMIM:618652 |
| Neuraminidase Deficiency |
|
|
OMIM:256550 |
| Mucopolysaccharidosis, Type Iiib |
|
|
OMIM:252920 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
|
ORPHA:3137 |
| Hemochromatosis, Type 1 |
|
|
OMIM:235200 |
| Aorta Coarctation |
|
|
ORPHA:1457 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
|
OMIM:619051 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
|
ORPHA:42 |
| Gaucher Disease, Type Iiic |
|
|
OMIM:231005 |
| Heterotaxy, Visceral, 1, X-Linked |
|
|
OMIM:306955 |
| Carnitine Palmitoyltransferase I Deficiency |
|
|
OMIM:255120 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
|
OMIM:613320 |
| Refsum Disease, Classic |
|
|
OMIM:266500 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
|
OMIM:618838 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
|
OMIM:616897 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
|
ORPHA:324410 |
| Hsd10 Disease, Infantile Type |
|
|
ORPHA:391428 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
|
OMIM:105210 |
| Complete Atrioventricular Septal Defect |
|
|
ORPHA:1329 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
|
OMIM:201475 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
|
ORPHA:465508 |
| Fucosidosis |
|
|
ORPHA:349 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
|
OMIM:261740 |
| Lethal Congenital Contracture Syndrome 10 |
|
|
OMIM:617022 |
| Gaucher Disease, Perinatal Lethal |
|
|
OMIM:608013 |
| Familial Aortic Dissection |
|
|
ORPHA:229 |
| Beck-Fahrner Syndrome |
|
|
OMIM:618798 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
|
ORPHA:308552 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
|
OMIM:608836 |
| Pseudo-Torch Syndrome 3 |
|
|
OMIM:618886 |
| Sickle Cell Anemia |
|
|
OMIM:603903 |
| Craniofaciofrontodigital Syndrome |
|
|
OMIM:114620 |
| Glycogen Storage Disease Ii |
|
|
OMIM:232300 |
| Fucosidosis |
|
|
OMIM:230000 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
|
ORPHA:1517 |
| Sandhoff Disease |
|
|
OMIM:268800 |
| Naxos Disease |
|
|
OMIM:601214 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
|
OMIM:619259 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
|
OMIM:618278 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
|
OMIM:602782 |
| Leigh Syndrome With Nephrotic Syndrome |
|
|
ORPHA:255249 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
|
OMIM:245600 |
| Mucolipidosis Ii Alpha/Beta |
|
|
OMIM:252500 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
|
ORPHA:2463 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
|
ORPHA:228308 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
|
ORPHA:268 |
| Developmental And Epileptic Encephalopathy 95 |
|
|
OMIM:618143 |
| Lethal Acantholytic Erosive Disorder |
|
|
ORPHA:158687 |
| Truncus Arteriosus |
|
|
ORPHA:3384 |
| Mucopolysaccharidosis Type 3 |
|
|
ORPHA:581 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
|
OMIM:300967 |
| Greenberg Dysplasia |
|
|
OMIM:215140 |
| Abetalipoproteinemia |
|
|
ORPHA:14 |
| Bohring-Opitz Syndrome |
|
|
ORPHA:97297 |
| Histiocytoid Cardiomyopathy |
|
|
ORPHA:137675 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
|
ORPHA:365 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
|
ORPHA:99125 |
| Tropical Endomyocardial Fibrosis |
|
|
ORPHA:75565 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
|
ORPHA:96191 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
|
ORPHA:91387 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
|
ORPHA:79280 |
| Beckwith-Wiedemann Syndrome |
|
|
ORPHA:116 |
| Beckwith-Wiedemann Syndrome |
|
|
OMIM:130650 |
| Aicardi-Goutières Syndrome |
|
|
ORPHA:51 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
|
OMIM:256040 |
| Yunis-Varon Syndrome |
|
|
ORPHA:3472 |
| Williams Syndrome |
|
|
ORPHA:904 |
| Singleton-Merten Syndrome 1 |
|
|
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
|
ORPHA:51608 |
