Reports
Health
Wellness
| A-C | D-F | G-H | I-N | O-Z |
|---|---|---|---|---|
| Aarskog syndrome | Digitorenocerebral syndrome | Gardner syndrome | Ichthyosis prematurity syndrome | Oral-facial-digital syndrome |
| Achalasia-alacrima syndrome | Distal hereditary motor neuronopathy | Genitopatellar syndrome | IFAP syndrome with or without BRESHECK syndrome | Osler hemorrhagic telangiectasia syndrome |
| Acrocallosal syndrome | Dominant hereditary optic atrophy | Gerstmann-Straussler-Scheinker syndrome | Inborn genetic diseases | Oto-palato-digital syndrome |
| Adams-Oliver syndrome | Donnai Barrow syndrome | Glucose transporter type 1 deficiency syndrome | Infantile liver failure syndrome | Ovarian hyperstimulation syndrome |
| Aicardi Goutieres syndrome | Duane syndrome | Ghosal hematodiaphyseal syndrome | Infantile-onset ascending hereditary spastic paralysis | Pachydermoperiostosis syndrome |
| Alagille syndrome | Dubin-Johnson syndrome | GLUT1 deficiency syndrome | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | Pancreatic agenesis and congenital heart disease |
| Allan-Herndon-Dudley syndrome | Dyggve-Melchior-Clausen syndrome | GLUT10 deficiency syndrome | Jackson-Weiss syndrome | Papillon-Lefavre syndrome |
| Alopecia, neurologic defects, and endocrinopathy syndrome | Ectodermal dysplasia-syndactyly syndrome | GLUT6 deficiency syndrome | Jankovic Rivera syndrome | Paroxysmal familial ventricular fibrillation |
| Alport syndrome | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome | Goldmann-Favre syndrome | Jervell and Lange-Nielsen syndrome | Peeling skin syndrome |
| Alstrom syndrome | EEM syndrome | Gonadotropin-independent familial sexual precocity | Johanson-Blizzard syndrome | Pena-Shokeir syndrome |
| Andermann syndrome | Ehlers-Danlos syndrome | Gorlin syndrome | Joubert syndrome | Pendred's syndrome |
| Andersen Tawil syndrome | Eichsfeld type congenital muscular dystrophy | Haim-Munk syndrome | Juvenile polyposis syndrome | Peroxisome biogenesis disorders |
| Angelman syndrome | Enhanced s-cone syndrome | Hajdu-Cheney syndrome | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Perrault Syndrome |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Enlarged vestibular aqueduct syndrome | Helsmoortel-van der aa syndrome | Kabuki syndrome | Perry syndrome |
| Arterial tortuosity syndrome | Epidermal nevus syndrome | Hennekam lymphangiectasia-lymphedema syndrome | Kaeser type neurogenic Scapuloperoneal syndrome | Peters plus syndrome |
| Ataxia-telangiectasia syndrome | Familial adenomatous polyposis | Hereditary acrodermatitis enteropathica | Kallmann syndrome | Pettigrew syndrome |
| ATR-X syndrome | familial Advanced sleep phase syndrome | Hereditary breast and ovarian cancer syndrome | Kartagener syndrome | Peutz-Jeghers syndrome |
| Atypical Rett syndrome | familial Alzheimer disease | Hereditary cancer-predisposing syndrome | Keratitis-Ichthyosis-Deafness Syndrome | Pfeiffer syndrome |
| Auriculocondylar syndrome | Familial amyloid polyneuropathy | hereditary Colorectal cancer | Knuckle pads, deafness AND leukonychia syndrome | Pierson syndrome |
| Autoimmune polyglandular syndrome | Familial aortopathy | Hereditary congenital facial paresis | Leber congenital amaurosis | Pili torti-deafness syndrome |
| Autosomal dominant optic atrophy plus syndrome | familial Atrial fibrillation | Hereditary coproporphyria | Leigh syndrome | Pitt-Hopkins syndrome |
| autosomal dominant Wolfram-like syndrome | Familial Breast-Ovarian Cancer | Hereditary cutaneous melanoma | LEOPARD syndrome | Pitt-Hopkins-like syndrome |
| Autosomal recessive congenital ichthyosis | Familial cancer of breast | Hereditary diffuse gastric cancer | Leprechaunism syndrome | Polyglandular autoimmune syndrome |
| Autosomal recessive Dejerine-Sottas syndrome | familial Cd8 deficiency | Hereditary diffuse leukoencephalopathy | Lesch-Nyhan syndrome | Poretti-boltshauser syndrome |
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Familial dysautonomia | hereditary essential Tremor | Lethal Congenital Contracture Syndrome | Primary familial hypertrophic cardiomyopathy |
| Axenfeld-Rieger syndrome | familial Dyskinesia | Hereditary factor II deficiency disease | Lethal multiple pterygium syndrome | Progressive familial heart block |
| Bannayan-Riley-Ruvalcaba syndrome | familial Erythrocytosis | Hereditary factor IX deficiency disease | Lethal tight skin contracture syndrome | Progressive familial intrahepatic cholestasis |
| Baraitser-Winter syndrome | Familial exudative vitreoretinopathy | Hereditary factor XI deficiency disease | Li-Fraumeni syndrome | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
| Bardet-Biedl syndrome | familial focal Epilepsy | Hereditary fructosuria | Li-Fraumeni-like syndrome | Proud Levine Carpenter syndrome |
| Bartter syndrome | familial Hemophagocytic lymphohistiocytosis | hereditary hemorrhagic Telangiectasia | Lig6 syndrome | PTEN hamartoma tumor syndrome |
| Beckwith-Wiedemann syndrome | familial Hypercholanemia | Hereditary insensitivity to pain with anhidrosis | Loeys-Dietz syndrome | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
| benign familial infantile Seizures | Familial hypercholesterolemia | Hereditary leiomyomatosis and renal cell cancer | Long QT syndrome | Radial aplasia-thrombocytopenia syndrome |
| Benign familial neonatal seizures | familial Hyperinsulinemic hypoglycemia | Hereditary lymphedema | LOPES-MACIEL-RODAN SYNDROME | Rapadilino syndrome |
| Benign familial neonatal-infantile seizures | Familial hyperinsulinism | Hereditary motor and sensory neuropathy | Lowe syndrome | Rapp-Hodgkin ectodermal dysplasia syndrome |
| Bent bone dysplasia syndrome | familial Hyperlipidemia | Hereditary Myopathy | Lucey-Driscoll syndrome | Rett syndrome |
| Bernard Soulier syndrome | Familial hypertrophic cardiomyopathy | Hereditary myopathy with early respiratory failure | Lynch syndrome | Revesz syndrome |
| Birk Barel mental retardation dysmorphism syndrome | Familial hypoalphalipoproteinemia | Hereditary nonpolyposis colorectal cancer | Macrocephaly/autism syndrome | Reynolds syndrome |
| Bjornstad syndrome with mild mitochondrial complex III deficiency | familial Hypocalciuric hypercalcemia | Hereditary pancreatitis | Majeed syndrome | Roberts-SC phocomelia syndrome |
| Blepharophimosis syndrome | Familial hypokalemia-hypomagnesemia | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Marfan lipodystrophy syndrome | Rothmund-Thomson syndrome |
| Bloom syndrome | familial Hypoparathyroidism | hereditary Prostate cancer | Marfan syndrome | Rotor syndrome |
| Borjeson-Forssman-Lehmann syndrome | Familial hypoplastic, glomerulocystic kidney | Hereditary sensory and autonomic neuropathy | Marinesco-Sjagren syndrome | Rubinstein-Taybi syndrome |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | familial Infantile convulsions and paroxysmal choreoathetosis | Hermansky-Pudlak syndrome | Marles Greenberg Persaud syndrome | Sanfilippo syndrome |
| Brachydactyly syndrome | Familial infantile myasthenia | Heterotaxy syndrome | McCune-Albright syndrome | Schaaf-yang syndrome |
| Branchiooculofacial syndrome | familial infantile Myoclonic epilepsy | Hidrotic ectodermal dysplasia syndrome | McKusick Kaufman syndrome | Schinzel-Giedion syndrome |
| Brown-Vialetto-Van Laere syndrome | Familial Intrahepatic Cholestasis | Histiocytosis-lymphadenopathy plus syndrome | McLeod neuroacanthocytosis syndrome | Schopf-Schulz-Passarge syndrome |
| Bruck Syndrome | familial limb-girdle Myasthenia | Holt-Oram syndrome | Meckel syndrome | Schuurs-hoeijmakers syndrome |
| Brugada syndrome | Familial Mediterranean fever | Hurler syndrome | Meckel-Gruber syndrome | Seckel syndrome |
| Carbohydrate-deficient glycoprotein syndrome | Familial medullary thyroid carcinoma | Hutchinson-Gilford progeria syndrome | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Segawa syndrome |
| Cardio-facio-cutaneous syndrome | familial Meningioma | Hutchinson-Gilford syndrome | Megaloblastic anemia due to inborn errors of metabolism | Senior-Loken syndrome |
| Carnevale syndrome | Familial multiple polyposis syndrome | Hyaline fibromatosis syndrome | Meier-Gorlin syndrome | SeSAME syndrome |
| Cerebrooculofacioskeletal Syndrome | familial Paget disease of bone | Hydrolethalus syndrome | Melnick-Fraser syndrome | Sessile serrated polyposis cancer syndrome |
| Child syndrome | Familial partial lipodystrophy | Hyperekplexia hereditary | Melnick-Needles syndrome | Severe congenital neutropenia |
| Christianson syndrome | Familial porphyria cutanea tarda | Hyperimmunoglobulin E syndrome | MEND syndrome | Short Rib Polydactyly Syndrome |
| Chromosome 2q32-q33 deletion syndrome | Familial restrictive cardiomyopathy | Hyperinsulinism-hyperammonemia syndrome | Menkes kinky-hair syndrome | SHORT syndrome |
| COACH syndrome | familial spinal Neurofibromatosis | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | Mental retardation-hypotonic facies syndrome X-linked | Shprintzen-Goldberg syndrome |
| Cockayne syndrome | familial thoracic Aortic aneurysm | Hyperphosphatasia with mental retardation syndrome | Merosin deficient congenital muscular dystrophy | Sick sinus syndrome |
| Coffin-Siris syndrome | Familial X-linked hypophosphatemic vitamin D refractory rickets | Hypomyelination and Congenital Cataract | Microcephaly-capillary malformation syndrome | Siderius X-linked mental retardation syndrome |
| Cohen syndrome | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | Miller syndrome | Silver spastic paraplegia syndrome |
| Congenital absence of salivary gland | FG syndrome | Hypoplastic left heart syndrome | Mitchell-Riley syndrome | Simpson-Golabi-Behmel syndrome |
| Congenital adrenal hyperplasia | Finnish congenital nephrotic syndrome | Hypotrichosis-lymphedema-telangiectasia syndrome | Mitochondrial DNA depletion syndrome | Sjagren-Larsson syndrome |
| Congenital adrenal hypoplasia | Floating-Harbor syndrome | Morquio syndrome | slow-channel congenital Myasthenic syndrome | |
| Congenital amegakaryocytic thrombocytopenia | Freeman-Sheldon syndrome | Mowat-Wilson syndrome | Smith-Lemli-Opitz syndrome | |
| Congenital bilateral absence of the vas deferens | Fuhrmann syndrome | Muir-Torrao syndrome | Smith-Magenis syndrome | |
| congenital Bile acid synthesis defect | Fukuyama congenital muscular dystrophy | Mulibrey nanism syndrome | Sotos Syndrome | |
| Congenital cataract | Multiple congenital anomalies | Spondylocarpotarsal synostosis syndrome | ||
| Congenital diaphragmatic hernia | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | Steel syndrome | ||
| congenital Diarrhea | Multiple mitochondrial dysfunctions syndrome | Stickler syndrome | ||
| Congenital disorder of deglycosylation | Multisystemic smooth muscle dysfunction syndrome | Stiff skin syndrome | ||
| Congenital disorder of glycosylation | Muscular dystrophy-dystroglycanopathy | Stuve-Wiedemann syndrome | ||
| congenital Distal spinal muscular atrophy | Myelodysplastic syndrome | SUDDEN INFANT DEATH SYNDROME | ||
| Congenital dyserythropoietic anemia | Myhre syndrome | Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) | ||
| Congenital erythropoietic porphyria | Nager syndrome | Thiamine Metabolism Dysfunction Syndrome | ||
| Congenital generalized lipodystrophy | Nance-Horan syndrome | Three M syndrome | ||
| congenital Glaucoma | Nephrotic syndrome | Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant | ||
| Congenital glucose-galactose malabsorption | Neu-Laxova syndrome | Timothy syndrome | ||
| congenital Glycogen storage disease of heart | Neurofibromatosis-Noonan syndrome | TNF receptor-associated periodic fever syndrome (TRAPS) | ||
| Congenital heart disease | Neuropathy hereditary sensory and autonomic | Transient myeloproliferative disorder of Down syndrome | ||
| Congenital hyperammonemia | Nicolaides-Baraitser syndrome | Trichohepatoenteric syndrome | ||
| Congenital Hypothyroidism | Nijmegen breakage syndrome-like disorder | Tuberous sclerosis syndrome | ||
| Congenital ichthyosiform erythroderma | nonsyndromic congenital Nail disorder | Turcot syndrome | ||
| Congenital lactase deficiency | Noonan syndrome | Ullrich congenital muscular dystrophy | ||
| Congenital long QT syndrome | Noonan-Like Syndrome Disorder | Unverricht-Lundborg syndrome | ||
| Congenital microcephaly | Upshaw-Schulman syndrome | |||
| Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | Usher syndrome | |||
| Congenital muscular dystrophy | UV-sensitive syndrome | |||
| Congenital muscular dystrophy-dystroglycanopathy | Van der Woude syndrome | |||
| Congenital muscular hypertrophy-cerebral syndrome | Von Hippel-Lindau syndrome | |||
| congenital Myasthenic syndrome | Walker-Warburg congenital muscular dystrophy | |||
| congenital Myopathy | Warburg micro syndrome | |||
| Congenital myotonia | Weaver syndrome | |||
| congenital Neuromuscular disease | Werner syndrome | |||
| congenital neuromuscular Glycogen storage disease | Wiskott-Aldrich syndrome | |||
| congenital Neutropenia | Wolff-Parkinson-White syndrome | |||
| Congenital order of glycosylation | Wolfram syndrome | |||
| Congenital secretory diarrhea | XFE progeroid syndrome | |||
| Congenital sensorineural hearing impairment | X-linked hereditary motor and sensory neuropathy | |||
| Congenital sensory neuropathy | X-linked hydrocephalus syndrome | |||
| congenital stationary Night blindness | Zellweger syndrome | |||
| Cornelia de Lange Syndrome | ||||
| Costello syndrome | ||||
| Cowden syndrome | ||||
| Crouzon syndrome | ||||
| Cryptophthalmos syndrome | ||||
| Cushing's syndrome |
