| Hydroxyacyl Glutathione Hydrolase Deficiency |
|
|
OMIM:614033 |
| Deoxyribose-5-Phosphate Aldolase Deficiency |
|
|
OMIM:125460 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
|
OMIM:613375 |
| Type 1 Diabetes Mellitus 2 |
|
|
OMIM:125852 |
| Type 1 Diabetes Mellitus 15 |
|
|
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
|
OMIM:616511 |
| Type 2 Diabetes Mellitus |
|
|
OMIM:125853 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
|
ORPHA:140941 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
|
OMIM:240900 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
|
ORPHA:293964 |
| Lipodystrophy, Familial Partial, Type 6 |
|
|
OMIM:615980 |
| Cortisone Reductase Deficiency 2 |
|
|
OMIM:614662 |
| Multiple Symmetric Lipomatosis |
|
|
ORPHA:2398 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
|
ORPHA:71529 |
| Insulin Autoimmune Syndrome |
|
|
ORPHA:411593 |
| Hyperostosis Frontalis Interna |
|
|
OMIM:144800 |
| Spermatogenic Failure, X-Linked, 1 |
|
|
OMIM:305700 |
| Bardet-Biedl Syndrome 6 |
|
|
OMIM:605231 |
| Bardet-Biedl Syndrome 14 |
|
|
OMIM:615991 |
| Obesity |
|
|
OMIM:601665 |
| Growth Hormone Insensitivity Syndrome |
|
|
ORPHA:181393 |
| Triglyceride Storage Disease, Type Ii |
|
|
OMIM:190430 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
|
OMIM:256450 |
| Mental Retardation, Autosomal Dominant 39 |
|
|
OMIM:616521 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
|
OMIM:601820 |
| Morbid Obesity And Spermatogenic Failure |
|
|
OMIM:615703 |
| Prader-Willi syndrome (Type 1) |
|
|
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
|
DECIPHER:53 |
| Hyperinsulinism Due To Insr Deficiency |
|
|
ORPHA:263458 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
|
OMIM:610156 |
| Bardet-Biedl Syndrome 7 |
|
|
OMIM:615984 |
| Body Mass Index Quantitative Trait Locus 19 |
|
|
OMIM:617885 |
| Bardet-Biedl Syndrome 11 |
|
|
OMIM:615988 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
|
OMIM:264010 |
| Lipodystrophy, Familial Partial, Type 7 |
|
|
OMIM:606721 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
|
ORPHA:1078 |
| Bardet-Biedl Syndrome 22 |
|
|
OMIM:617119 |
| Bardet-Biedl Syndrome 12 |
|
|
OMIM:615989 |
| Diabetes Mellitus, Ketosis-Prone |
|
|
OMIM:612227 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
|
OMIM:200170 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
|
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
|
ORPHA:71526 |
| Body Mass Index Quantitative Trait Locus 20 |
|
|
OMIM:618406 |
| Bardet-Biedl Syndrome 13 |
|
|
OMIM:615990 |
| Narcolepsy Type 1 |
|
|
ORPHA:2073 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
|
ORPHA:79084 |
| Bardet-Biedl Syndrome 18 |
|
|
OMIM:615995 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
|
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
|
OMIM:605572 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
|
OMIM:300803 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
|
ORPHA:436141 |
| Isolated Growth Hormone Deficiency, Type V |
|
|
OMIM:618160 |
| Acquired Partial Lipodystrophy |
|
|
ORPHA:79087 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
|
ORPHA:329249 |
| Macrosomia With Microphthalmia, Lethal |
|
|
OMIM:248110 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
|
OMIM:612526 |
| Adiposis Dolorosa |
|
|
OMIM:103200 |
| Bardet-Biedl Syndrome 10 |
|
|
OMIM:615987 |
| Acromegaloid Facial Appearance Syndrome |
|
|
OMIM:102150 |
| Summitt Syndrome |
|
|
OMIM:272350 |
| Obesity Due To Sim1 Deficiency |
|
|
ORPHA:369873 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
|
ORPHA:356996 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
|
OMIM:619058 |
| Bardet-Biedl Syndrome 5 |
|
|
OMIM:615983 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
|
ORPHA:3055 |
| Halothane Hepatitis |
|
|
OMIM:234350 |
| Syndromic X-Linked Intellectual Disability 7 |
|
|
ORPHA:85274 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
|
OMIM:615418 |
| Mental Retardation, X-Linked 91 |
|
|
OMIM:300577 |
| Carcinoma Of Esophagus |
|
|
ORPHA:70482 |
| Adenocarcinoma Of The Esophagus |
|
|
ORPHA:99976 |
| Rafiq Syndrome |
|
|
OMIM:614202 |
| Lipe-Related Familial Partial Lipodystrophy |
|
|
ORPHA:435660 |
| Retinitis Pigmentosa 71 |
|
|
OMIM:616394 |
| Immunodeficiency 61 |
|
|
OMIM:300310 |
| Bardet-Biedl Syndrome 2 |
|
|
OMIM:615981 |
| Macrosomia Adiposa Congenita |
|
|
OMIM:248100 |
| Congenital Generalized Lipodystrophy |
|
|
ORPHA:528 |
| Narcolepsy 7 |
|
|
OMIM:614250 |
| Hernández-Aguirre Negrete Syndrome |
|
|
ORPHA:2139 |
| Mehmo Syndrome |
|
|
ORPHA:85282 |
| Retinitis Pigmentosa |
|
|
ORPHA:791 |
| Cubitus Valgus With Mental Retardation And Unusual Facies |
|
|
OMIM:300471 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
|
OMIM:610628 |
| Nephronophthisis 15 |
|
|
OMIM:614845 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
|
ORPHA:324575 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
|
ORPHA:2206 |
| Mody |
|
|
ORPHA:552 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
|
ORPHA:3085 |
| 11P15.4 Microduplication Syndrome |
|
|
ORPHA:300305 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
|
ORPHA:276608 |
| Temple Syndrome |
|
|
OMIM:616222 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
|
ORPHA:363400 |
| Microduplication Xp11.22P11.23 Syndrome |
|
|
ORPHA:217377 |
| Mandibuloacral Dysplasia |
|
|
ORPHA:2457 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
|
OMIM:615381 |
| Akt2-Related Familial Partial Lipodystrophy |
|
|
ORPHA:79085 |
| Mehmo Syndrome |
|
|
OMIM:300148 |
| Pparg-Related Familial Partial Lipodystrophy |
|
|
ORPHA:79083 |
| Bardet-Biedl Syndrome 16 |
|
|
OMIM:615993 |
| Bardet-Biedl Syndrome 19 |
|
|
OMIM:615996 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
|
OMIM:609734 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
|
OMIM:618124 |
| Lipodystrophy, Familial Partial, Type 1 |
|
|
OMIM:608600 |
| Familial Multiple Lipomatosis |
|
|
ORPHA:199276 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
|
ORPHA:2348 |
| Leptin Receptor Deficiency |
|
|
OMIM:614963 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
|
ORPHA:73272 |
| Fryns Macrocephaly |
|
|
OMIM:600302 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
|
ORPHA:459033 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
|
OMIM:618363 |
| Temple Syndrome |
|
|
ORPHA:254516 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
|
OMIM:614947 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
|
ORPHA:276580 |
| Central Precocious Puberty |
|
|
ORPHA:759 |
| Xq27.3Q28 Duplication Syndrome |
|
|
ORPHA:261483 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
|
ORPHA:2234 |
| Obesity, Hyperphagia, And Developmental Delay |
|
|
OMIM:613886 |
| Laurence-Moon Syndrome |
|
|
ORPHA:2377 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
|
OMIM:613670 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
|
ORPHA:98855 |
| Bardet-Biedl Syndrome 21 |
|
|
OMIM:617406 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
|
ORPHA:276630 |
| Insulin-Resistance Syndrome Type B |
|
|
ORPHA:2298 |
| Insulinomatosis And Diabetes Mellitus |
|
|
OMIM:147630 |
| Hepatic Veno-Occlusive Disease |
|
|
ORPHA:890 |
| Cortisone Reductase Deficiency 1 |
|
|
OMIM:604931 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
|
OMIM:616756 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
|
ORPHA:254531 |
| Trisomy 5P |
|
|
ORPHA:1742 |
| Short Syndrome |
|
|
ORPHA:3163 |
| Subaortic Stenosis-Short Stature Syndrome |
|
|
ORPHA:3191 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
|
ORPHA:2432 |
| Myofibrillar Myopathy 11 |
|
|
OMIM:619178 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
|
OMIM:613327 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
|
ORPHA:189427 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
|
ORPHA:88643 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
|
ORPHA:98863 |
| Summitt Syndrome |
|
|
ORPHA:3210 |
| Short Stature-Obesity Syndrome |
|
|
OMIM:269870 |
| Proprotein Convertase 1/3 Deficiency |
|
|
OMIM:600955 |
| Emery-Dreifuss Muscular Dystrophy |
|
|
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
|
ORPHA:98853 |
| Chromosome Xq21 Deletion Syndrome |
|
|
OMIM:303110 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
|
OMIM:615630 |
| Biemond Syndrome Type 2 |
|
|
ORPHA:141333 |
| Retinal Dystrophy And Obesity |
|
|
OMIM:616188 |
| Bardet-Biedl Syndrome 4 |
|
|
OMIM:615982 |
| Placental Insufficiency |
|
|
ORPHA:439167 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
|
OMIM:618725 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
|
OMIM:614450 |
| Bardet-Biedl Syndrome 9 |
|
|
OMIM:615986 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
|
ORPHA:2928 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
|
OMIM:300238 |
| Primary Lipodystrophy |
|
|
ORPHA:90970 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
|
ORPHA:276575 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
|
ORPHA:280365 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
|
OMIM:264120 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
|
ORPHA:263455 |
| Growth Factors, Combined Defect Of |
|
|
OMIM:233805 |
| Polycystic Ovary Syndrome 1 |
|
|
OMIM:184700 |
| Borjeson-Forssman-Lehmann Syndrome |
|
|
OMIM:301900 |
| Leptin Deficiency Or Dysfunction |
|
|
OMIM:614962 |
| Autism, Susceptibility To, 18 |
|
|
OMIM:615032 |
| Clark-Baraitser Syndrome |
|
|
OMIM:617752 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
|
ORPHA:1035 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
|
OMIM:604360 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
|
OMIM:614613 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
|
ORPHA:480907 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
|
ORPHA:96184 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
|
ORPHA:276556 |
| Bardet-Biedl Syndrome 8 |
|
|
OMIM:615985 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
|
ORPHA:521390 |
| Silver-Russell Syndrome |
|
|
ORPHA:813 |
| Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
|
OMIM:618822 |
| Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
|
OMIM:606772 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
|
OMIM:615954 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
|
ORPHA:85280 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
|
OMIM:615830 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
|
OMIM:618443 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
|
ORPHA:90301 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
|
ORPHA:2233 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
|
ORPHA:177910 |
| 48,Xxyy Syndrome |
|
|
ORPHA:10 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
|
OMIM:300209 |
| Obesity-Hypoventilation Syndrome |
|
|
OMIM:257500 |
| Wilson-Turner Syndrome |
|
|
ORPHA:3459 |
| Pseudopseudohypoparathyroidism |
|
|
OMIM:612463 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
|
OMIM:618620 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
|
OMIM:268050 |
| Acquired Generalized Lipodystrophy |
|
|
ORPHA:79086 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
|
OMIM:614651 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
|
ORPHA:166024 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
|
ORPHA:2429 |
| Baralle-Macken Syndrome |
|
|
OMIM:619255 |
| Pseudopseudohypoparathyroidism |
|
|
ORPHA:79445 |
| Obesity Due To Congenital Leptin Deficiency |
|
|
ORPHA:66628 |
| Aromatase Deficiency |
|
|
ORPHA:91 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
|
ORPHA:2183 |
| Chung-Jansen Syndrome |
|
|
OMIM:617991 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
|
OMIM:262190 |
| Idiopathic Neonatal Atrial Flutter |
|
|
ORPHA:45452 |
| Atkin-Flaitz Syndrome |
|
|
ORPHA:1193 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
|
ORPHA:352530 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
|
ORPHA:179494 |
| Laron Syndrome |
|
|
ORPHA:633 |
| Shox-Related Short Stature |
|
|
ORPHA:314795 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
|
OMIM:616541 |
| Lipodystrophy, Familial Partial, Type 3 |
|
|
OMIM:604367 |
| Wagr Syndrome |
|
|
ORPHA:893 |
| Werner Syndrome |
|
|
ORPHA:902 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
|
ORPHA:254525 |
| Monosomy 13Q34 |
|
|
ORPHA:96168 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
|
ORPHA:397973 |
| Schaaf-Yang Syndrome |
|
|
OMIM:615547 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
|
OMIM:619326 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
|
OMIM:615633 |
| 13Q12.3 Microdeletion Syndrome |
|
|
ORPHA:412035 |
| X-Linked Intellectual Disability, Shashi Type |
|
|
ORPHA:85286 |
| Insulin-Like Growth Factor I, Resistance To |
|
|
OMIM:270450 |
| X-Linked Intellectual Disability, Stevenson Type |
|
|
ORPHA:85325 |
| Insulinoma |
|
|
ORPHA:97279 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
|
ORPHA:411515 |
| Mental Retardation, Autosomal Recessive 13 |
|
|
OMIM:613192 |
| Clark-Baraitser syndrome |
|
|
OMIM:300602 |
| 6Q16 Microdeletion Syndrome |
|
|
ORPHA:171829 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
|
ORPHA:486815 |
| Bardet-Biedl Syndrome 17 |
|
|
OMIM:615994 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
|
OMIM:608624 |
| Pituitary Adenoma 4, Acth-Secreting |
|
|
OMIM:219090 |
| Abcd Syndrome |
|
|
OMIM:600501 |
| X-Linked Intellectual Disability, Hedera Type |
|
|
ORPHA:93952 |
| Seckel Syndrome 10 |
|
|
OMIM:617253 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
|
ORPHA:171839 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
|
OMIM:617296 |
| Pseudohypoparathyroidism, Type Ib |
|
|
OMIM:603233 |
| Bardet-Biedl Syndrome 3 |
|
|
OMIM:600151 |
| Atkin-Flaitz Syndrome |
|
|
OMIM:300431 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
|
OMIM:616026 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
|
OMIM:601794 |
| Microtriplication 11Q24.1 |
|
|
ORPHA:289522 |
| Wilson Disease |
|
|
ORPHA:905 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
|
ORPHA:363741 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
|
ORPHA:254534 |
| Chromosome 3Q29 Duplication Syndrome |
|
|
OMIM:611936 |
| Pancreatic Agenesis 1 |
|
|
OMIM:260370 |
| Megalencephaly |
|
|
ORPHA:2477 |
| Idiopathic Intracranial Hypertension |
|
|
ORPHA:238624 |
| Urban-Rogers-Meyer Syndrome |
|
|
ORPHA:3409 |
| Rabson-Mendenhall Syndrome |
|
|
ORPHA:769 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
|
ORPHA:2180 |
| Cushing Disease |
|
|
ORPHA:96253 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
|
OMIM:300869 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
|
ORPHA:464282 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
|
ORPHA:3077 |
| Xp22.13P22.2 Duplication Syndrome |
|
|
ORPHA:284180 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
|
ORPHA:444002 |
| Macrocephaly/Autism Syndrome |
|
|
OMIM:605309 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
|
OMIM:612938 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
|
ORPHA:3041 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
|
ORPHA:26793 |
| Carpenter Syndrome |
|
|
ORPHA:65759 |
| Bangstad Syndrome |
|
|
OMIM:210740 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
|
ORPHA:90154 |
| 15Q24 Microdeletion Syndrome |
|
|
ORPHA:94065 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
|
OMIM:618821 |
| Whipple Disease |
|
|
ORPHA:3452 |
| 48,Xxxy Syndrome |
|
|
ORPHA:96263 |
| Cidec-Related Familial Partial Lipodystrophy |
|
|
ORPHA:435651 |
| X-Linked Non-Syndromic Intellectual Disability |
|
|
ORPHA:777 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
|
OMIM:300888 |
| Senior-Loken Syndrome 9 |
|
|
OMIM:616629 |
| Lipodystrophy, Familial Partial, Type 2 |
|
|
OMIM:151660 |
| Bloom Syndrome |
|
|
ORPHA:125 |
| Marbach-Rustad Progeroid Syndrome |
|
|
OMIM:619322 |
| Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
|
OMIM:600122 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
|
OMIM:300354 |
| Congenital Analbuminemia |
|
|
ORPHA:86816 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
|
OMIM:617157 |
| Down Syndrome |
|
|
ORPHA:870 |
| Chromosome 2Q37 Deletion Syndrome |
|
|
OMIM:600430 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
|
OMIM:300957 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
|
ORPHA:464288 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
|
OMIM:608612 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
|
OMIM:610543 |
| Joubert Syndrome 32 |
|
|
OMIM:617757 |
| Leprechaunism |
|
|
ORPHA:508 |
| Kennerknecht Syndrome |
|
|
OMIM:600908 |
| Smith-Kingsmore Syndrome |
|
|
OMIM:616638 |
| Cornelia De Lange Syndrome 5 |
|
|
OMIM:300882 |
| Distal 16P11.2 Microdeletion Syndrome |
|
|
ORPHA:261222 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
|
ORPHA:264580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
|
OMIM:300860 |
| Alstrom Syndrome |
|
|
OMIM:203800 |
| Joubert Syndrome 8 |
|
|
OMIM:612291 |
| Borjeson-Forssman-Lehmann Syndrome |
|
|
ORPHA:127 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
|
ORPHA:226313 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
|
OMIM:248370 |
| Pseudohypoparathyroidism, Type Ic |
|
|
OMIM:612462 |
| Septo-Optic Dysplasia Spectrum |
|
|
ORPHA:3157 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
|
ORPHA:96182 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
|
OMIM:618430 |
| Dysbetalipoproteinemia |
|
|
ORPHA:412 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
|
OMIM:301039 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
|
OMIM:194072 |
| Momo Syndrome |
|
|
ORPHA:2563 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
|
ORPHA:401923 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
|
OMIM:615812 |
| Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
|
ORPHA:34527 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
|
OMIM:619269 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
|
ORPHA:398079 |
| Pseudohypoparathyroidism, Type Ia |
|
|
OMIM:103580 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
|
ORPHA:137634 |
| Perrault Syndrome 4 |
|
|
OMIM:615300 |
| Gitelman Syndrome |
|
|
ORPHA:358 |
| Dopamine Beta-Hydroxylase Deficiency |
|
|
ORPHA:230 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
|
OMIM:618395 |
| Tatton-Brown-Rahman Syndrome |
|
|
ORPHA:404443 |
| Bardet-Biedl Syndrome |
|
|
ORPHA:110 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
|
ORPHA:261197 |
| Luscan-Lumish Syndrome |
|
|
OMIM:616831 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
|
OMIM:619056 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
|
ORPHA:96147 |
| Autosomal Dominant Centronuclear Myopathy |
|
|
ORPHA:169189 |
| Peripartum Cardiomyopathy |
|
|
ORPHA:563 |
| Bardet-Biedl Syndrome 1 |
|
|
OMIM:209900 |
| Pde4D Haploinsufficiency Syndrome |
|
|
ORPHA:439822 |
| 2Q37 Microdeletion Syndrome |
|
|
ORPHA:1001 |
| 8P23.1 Microdeletion Syndrome |
|
|
ORPHA:251071 |
| X-Linked Intellectual Disability, Cabezas Type |
|
|
ORPHA:85293 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
|
ORPHA:90153 |
| 19P13.12 Microdeletion Syndrome |
|
|
ORPHA:254346 |
| Man1B1-Cdg |
|
|
ORPHA:397941 |
| Adiposis Dolorosa |
|
|
ORPHA:36397 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
|
ORPHA:209902 |
| Thalidomide Embryopathy |
|
|
ORPHA:3312 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
|
OMIM:618493 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
|
ORPHA:174 |
| Müllerian Aplasia And Hyperandrogenism |
|
|
ORPHA:247768 |
| Helsmoortel-Van Der Aa Syndrome |
|
|
OMIM:615873 |
| Momo Syndrome |
|
|
OMIM:157980 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
|
ORPHA:2822 |
| Angelman Syndrome |
|
|
OMIM:105830 |
| Prader-Willi Syndrome |
|
|
OMIM:176270 |
| Desbuquois Dysplasia 1 |
|
|
OMIM:251450 |
| Ring Chromosome Y Syndrome |
|
|
ORPHA:261529 |
| Radio-Tartaglia Syndrome |
|
|
OMIM:619312 |
| Angelman Syndrome Due To A Point Mutation |
|
|
ORPHA:411511 |
| Carpenter Syndrome 1 |
|
|
OMIM:201000 |
| 3Q29 Microduplication Syndrome |
|
|
ORPHA:251038 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
|
OMIM:219080 |
| Thyrotoxic Periodic Paralysis |
|
|
ORPHA:79102 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
|
ORPHA:251004 |
| Chops Syndrome |
|
|
OMIM:616368 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
|
ORPHA:3224 |
| Kleefstra Syndrome 1 |
|
|
OMIM:610253 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
|
ORPHA:398069 |
| Smith-Magenis Syndrome |
|
|
OMIM:182290 |
| Smith-Magenis Syndrome |
|
|
ORPHA:819 |
| Cohen Syndrome |
|
|
OMIM:216550 |
| White-Sutton Syndrome |
|
|
ORPHA:468678 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
|
ORPHA:2235 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
|
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
|
ORPHA:98793 |
| Adrenocortical Carcinoma |
|
|
ORPHA:1501 |
| Kohlschutter-Tonz Syndrome-Like |
|
|
OMIM:619229 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
|
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
|
ORPHA:177901 |
| Ulnar-Mammary Syndrome |
|
|
ORPHA:3138 |
| Kleefstra Syndrome |
|
|
ORPHA:261494 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
|
OMIM:141750 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
|
ORPHA:64745 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
|
ORPHA:98794 |
| Distal Monosomy 12Q |
|
|
ORPHA:96149 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
|
OMIM:210720 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
|
OMIM:614520 |
| Steinert Myotonic Dystrophy |
|
|
ORPHA:273 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
|
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
|
OMIM:610489 |
| Craniopharyngioma |
|
|
ORPHA:54595 |
| Achondroplasia |
|
|
ORPHA:15 |
| Prader-Willi-Like Syndrome |
|
|
ORPHA:398073 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
|
ORPHA:457059 |
| Sheehan Syndrome |
|
|
ORPHA:91355 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
|
OMIM:309585 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
|
ORPHA:319675 |
| Beckwith-Wiedemann Syndrome |
|
|
ORPHA:116 |
| Xylt1-Cdg |
|
|
ORPHA:370930 |
| 7Q11.23 Microduplication Syndrome |
|
|
ORPHA:96121 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
|
ORPHA:99832 |
| Cohen Syndrome |
|
|
ORPHA:193 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
|
ORPHA:369837 |
| Angelman Syndrome |
|
|
ORPHA:72 |
| Kallmann Syndrome |
|
|
ORPHA:478 |
| Pseudohypoparathyroidism Type 1C |
|
|
ORPHA:79444 |
| Prader-Willi Syndrome |
|
|
ORPHA:739 |
| Hutchinson-Gilford Progeria Syndrome |
|
|
ORPHA:740 |
| Acrodysostosis With Multiple Hormone Resistance |
|
|
ORPHA:280651 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
|
ORPHA:99889 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
|
ORPHA:369950 |
| Xq21 Microdeletion Syndrome |
|
|
ORPHA:1435 |
| Hellp Syndrome |
|
|
ORPHA:244242 |
| Desbuquois Dysplasia 2 |
|
|
OMIM:615777 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
|
OMIM:250420 |
| Kabuki Syndrome |
|
|
ORPHA:2322 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
|
ORPHA:2637 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
|
ORPHA:293987 |
| Myhre Syndrome |
|
|
OMIM:139210 |
| Pseudohypoparathyroidism Type 1A |
|
|
ORPHA:79443 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
|
ORPHA:466950 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
|
OMIM:618653 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
|
ORPHA:99413 |
| Turner Syndrome |
|
|
ORPHA:881 |
| Mosaic Monosomy X |
|
|
ORPHA:99228 |
| Monosomy X |
|
|
ORPHA:99226 |
| 1P21.3 Microdeletion Syndrome |
|
|
ORPHA:293948 |
| Perlman Syndrome |
|
|
OMIM:267000 |
| Prader-Willi Syndrome Due To Translocation |
|
|
ORPHA:177907 |
| Primrose Syndrome |
|
|
OMIM:259050 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
|
ORPHA:444077 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
|
ORPHA:466943 |
| Lysinuric Protein Intolerance |
|
|
OMIM:222700 |
| Witteveen-Kolk Syndrome |
|
|
OMIM:613406 |
| Meningioma |
|
|
ORPHA:2495 |
| Adnp Syndrome |
|
|
ORPHA:404448 |
| 6Q Terminal Deletion Syndrome |
|
|
ORPHA:75857 |
| Alström Syndrome |
|
|
ORPHA:64 |
| 22Q11.2 Deletion Syndrome |
|
|
ORPHA:567 |
| Williams-Beuren Syndrome |
|
|
OMIM:194050 |
| Tako-Tsubo Cardiomyopathy |
|
|
ORPHA:66529 |
| 17Q24.2 Microdeletion Syndrome |
|
|
ORPHA:529962 |
| Partial Deletion Of The Short Arm Of Chromosome 7 |
|
|
ORPHA:261911 |
| Pmm2-Cdg |
|
|
ORPHA:79318 |
| Digeorge Syndrome |
|
|
OMIM:188400 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
|
ORPHA:1772 |
| Ulnar-Mammary Syndrome |
|
|
OMIM:181450 |
| Monosomy 22Q13.3 |
|
|
ORPHA:48652 |
| 1P36 Deletion Syndrome |
|
|
ORPHA:1606 |
| Carpenter Syndrome 2 |
|
|
OMIM:614976 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
|
ORPHA:70591 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
|
OMIM:619321 |
| Williams Syndrome |
|
|
ORPHA:904 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
|
ORPHA:353281 |
| Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 |
|
|
OMIM:309580 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
|
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
|
ORPHA:353277 |
| Rubinstein-Taybi Syndrome 1 |
|
|
OMIM:180849 |
| Chromosome 1P36 Deletion Syndrome |
|
|
OMIM:607872 |
| Cornelia De Lange Syndrome |
|
|
ORPHA:199 |
| Pallister-Killian Syndrome |
|
|
OMIM:601803 |
