| EVC - Ellis-van-Crefeld syndrome EVC - Ellis-van-Crefeld syndrome |
| Glaucoma Glaucoma |
| GS - Griscelli syndrome GS - Griscelli syndrome |
| FL - Follicular lymphoma FL - Follicular lymphoma |
| Dent disease Dent disease |
| Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism |
| Jeune syndrome Jeune syndrome |
| Fanconi anemia Fanconi anemia |
| Exudative Vitreoretinopathy (incl. Wagner and Norrie syndrome) Exudative Vitreoretinopathy (incl. Wagner and Norrie syndrome) |
| Gorlin-Goltz syndrome Gorlin-Goltz syndrome |
| Hypoparathyroidism Hypoparathyroidism |
| WS - Waardenburg Syndrome WS - Waardenburg Syndrome |
| Nephrocalcinosis, Nephrolithiasis Nephrocalcinosis, Nephrolithiasis |
| Proteus syndrome Proteus syndrome |
| CTCL - Cutaneous T-cell lymphoma CTCL - Cutaneous T-cell lymphoma |
| Bone marrow failure syndrome Bone marrow failure syndrome |
| Monogenic diabetes mellitus Monogenic diabetes mellitus |
| CPVT - Catecholaminergic polymorphic ventricular tachycardia CPVT - Catecholaminergic polymorphic ventricular tachycardia |
| Congenital hyperinsulinism Congenital hyperinsulinism |
| ADPKD - Autosomal Dominant Polycystic Kidney Disease (ADPKD) ADPKD - Autosomal Dominant Polycystic Kidney Disease (ADPKD) |
| Bicuspid aortic valve Bicuspid aortic valve |
| BFNIS - Benign familial neonatal-infantile seizures BFNIS - Benign familial neonatal-infantile seizures |
| Pancreatic cancer Pancreatic cancer |
| ACHM - Achromatopsia ACHM - Achromatopsia |
| Disorganized skeletal development (incl. Exostoses) Disorganized skeletal development (incl. Exostoses) |
| Hepatocellular carcinoma Hepatocellular carcinoma |
| Intrahepatic cholestasis of pregnancy Intrahepatic cholestasis of pregnancy |
| progressive familial intrahepatic Cholestasis progressive familial intrahepatic Cholestasis |
| Lissencephaly Lissencephaly |
| VACTERL - VACTERL association VACTERL - VACTERL association |
| Dysplasias of the long bones and/or spine Dysplasias of the long bones and/or spine |
| WWS - Walker-Warburg syndrome WWS - Walker-Warburg syndrome |
| CMD - Congenital muscular dystrophy CMD - Congenital muscular dystrophy |
| Flecked Retina Syndrome Flecked Retina Syndrome |
| Thrombocytosis, familial Thrombocytosis, familial |
| WAGR - Wilms tumor, Aniridia, Genitourinary, Mental Retardation Syndrome WAGR - Wilms tumor, Aniridia, Genitourinary, Mental Retardation Syndrome |
| DBA - Diamond Blackfan anemia DBA - Diamond Blackfan anemia |
| AML - Acute myeloid leukemia AML - Acute myeloid leukemia |
| Mantle cell lymphoma Mantle cell lymphoma |
| Cystinuria Cystinuria |
| DLBCL, DGZBZ - Diffuse large B-cell lymphoma DLBCL, DGZBZ - Diffuse large B-cell lymphoma |
| JLNS - Jervell- and Lange-Nielsen syndrome JLNS - Jervell- and Lange-Nielsen syndrome |
| Myopia Myopia |
| FSGS - Focal segmental glomerulosclerosis, FSGS FSGS - Focal segmental glomerulosclerosis, FSGS |
| Hemochromatosis Hemochromatosis |
| Ketogenesis disorder Ketogenesis disorder |
| Galactosemia Galactosemia |
| Hyperammonemia Hyperammonemia |
| Obesity Obesity |
| Prostate cancer Prostate cancer |
| Syndromal hypoglycemia Syndromal hypoglycemia |
| HCM - Hypertrophic cardiomyopathy HCM - Hypertrophic cardiomyopathy |
| HCL - Hairy cell leukemia HCL - Hairy cell leukemia |
| TTR-FAP - Amyloidosis TTR-FAP - Amyloidosis |
| JBTS - Joubert syndrome JBTS - Joubert syndrome |
| Noonan syndrome Noonan syndrome |
| Epilepsy and epileptic encephalopathy Epilepsy and epileptic encephalopathy |
| AIF - Periodic fever syndromes AIF - Periodic fever syndromes |
| PBD - Peroxisome biogenesis disorders PBD - Peroxisome biogenesis disorders |
| Skeletal dysplasia with abnormal mineralization Skeletal dysplasia with abnormal mineralization |
| Hereditary spherocytosis Hereditary spherocytosis |
| Medulloblastoma Medulloblastoma |
| PHP - Pseudohypoparathyroidism PHP - Pseudohypoparathyroidism |
| FTD - Dementia FTD - Dementia |
| Diabetes insipidus Diabetes insipidus |
| ARPKD - Autosomal recessive polycystic kidney disease (ARPKD) ARPKD - Autosomal recessive polycystic kidney disease (ARPKD) |
| Inherited Insulin resistance syndrome Inherited Insulin resistance syndrome |
| LGMD - Limb-girdle muscular dystrophy LGMD - Limb-girdle muscular dystrophy |
| Nystagmus Nystagmus |
| dSMA, dHMN - Spinal muscular atrophy, distal dSMA, dHMN - Spinal muscular atrophy, distal |
| MZSDS - Mainzer-Saldino syndrome MZSDS - Mainzer-Saldino syndrome |
| NBIA - Neurodegeneration with brain iron accumulation NBIA - Neurodegeneration with brain iron accumulation |
| Osteosarcoma Osteosarcoma |
| Dystonia Dystonia |
| HTX - Heterotaxy HTX - Heterotaxy |
| Glycogen storage disease Glycogen storage disease |
| Metabolic epilepsy Metabolic epilepsy |
| Corneal Dystrophy Corneal Dystrophy |
| Mitochondrial hearing loss Mitochondrial hearing loss |
| Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia |
| BrS - Brugada syndrome BrS - Brugada syndrome |
| CLL - Chronic lymphocytic leukemia CLL - Chronic lymphocytic leukemia |
| PCH - Pontocerebellar hypoplasia PCH - Pontocerebellar hypoplasia |
| Renal Fanconi syndrome Renal Fanconi syndrome |
| Thrombocytopenia Thrombocytopenia |
| ACLS - Acrocallosal syndrome ACLS - Acrocallosal syndrome |
| Gastrointestinal stromal tumor Gastrointestinal stromal tumor |
| TSC - Tuberous sclerosis complex (TSC) TSC - Tuberous sclerosis complex (TSC) |
| Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia |
| Disorders of sex development (DSD) Disorders of sex development (DSD) |
| Retinoblastoma Retinoblastoma |
| ARVD/ARVC - Arrhythmogenic right ventricular dysplasia/cardiomyopathy ARVD/ARVC - Arrhythmogenic right ventricular dysplasia/cardiomyopathy |
| Ichthyoses and related disorders of cornification Ichthyoses and related disorders of cornification |
| Metabolic myopathy Metabolic myopathy |
| CAKUT - Congenital Anomalies of the Kidney and Urinary Tract CAKUT - Congenital Anomalies of the Kidney and Urinary Tract |
| MKS - Meckel-Gruber syndrome MKS - Meckel-Gruber syndrome |
| MFS - Marfan syndrome MFS - Marfan syndrome |
| Skeletal short stature Skeletal short stature |
| MCPH - Microcephaly MCPH - Microcephaly |
| ADNFLE - Autosomal dominant nocturnal frontal lobe epilepsy ADNFLE - Autosomal dominant nocturnal frontal lobe epilepsy |
| BOR - Branchiootorenal syndrome BOR - Branchiootorenal syndrome |
| HSAN - Hereditary sensory and autonomic neuropathy HSAN - Hereditary sensory and autonomic neuropathy |
| Porphyria Porphyria |
| ALS - Amyotrophic Lateral Sclerosis ALS - Amyotrophic Lateral Sclerosis |
| BBS - Bardet-Biedl syndrome BBS - Bardet-Biedl syndrome |
| Endocrine short stature Endocrine short stature |
| Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis |
| Neurofibromatosis and Schwannomatosis Neurofibromatosis and Schwannomatosis |
| Shortening of Long Tubular Bones (Acro-Meso-Rhizomelias) Shortening of Long Tubular Bones (Acro-Meso-Rhizomelias) |
| NCL - Neuronal ceroid lipofuscinosis NCL - Neuronal ceroid lipofuscinosis |
| IBD - Inflammatory bowel disease IBD - Inflammatory bowel disease |
| OFD - Orofaciodigital syndrome OFD - Orofaciodigital syndrome |
| MPS - Mucopolysaccharidosis MPS - Mucopolysaccharidosis |
| Craniosynostoses Craniosynostoses |
| Ataxia, autosomal dominant Ataxia, autosomal dominant |
| aHUS - Atypical hemolytic uremic syndrome, aHUS aHUS - Atypical hemolytic uremic syndrome, aHUS |
| Cholestatic hepatopathy Cholestatic hepatopathy |
| Ataxia, autosomal recessive Ataxia, autosomal recessive |
| B-ALL - B-cell acute lymphoblastic leukemia B-ALL - B-cell acute lymphoblastic leukemia |
| Hereditary elliptocytosis Hereditary elliptocytosis |
| Bartter/Gitelman syndrome Bartter/Gitelman syndrome |
| ALGS - Alagille syndrome ALGS - Alagille syndrome |
| Polycystic Liver Disease (PCLD) Polycystic Liver Disease (PCLD) |
| Tyrosinemia Tyrosinemia |
| natural killer/T-cell lymphoma natural killer/T-cell lymphoma |
| XLRP - X-linked retinitis pigmentosa XLRP - X-linked retinitis pigmentosa |
| DCM - Dilated cardiomyopathy DCM - Dilated cardiomyopathy |
| MH - Malignant hyperthermia MH - Malignant hyperthermia |
| AGS - Aicardi-Goutières syndrome AGS - Aicardi-Goutières syndrome |
| Angelman-like syndromes Angelman-like syndromes |
| Congenital glycosylation disorder Congenital glycosylation disorder |
| Surfactant protein deficiency Surfactant protein deficiency |
| Optic Atrophy (incl. LHON hotspots) Optic Atrophy (incl. LHON hotspots) |
| AD, FAD, EOFAD - Alzheimer disease AD, FAD, EOFAD - Alzheimer disease |
| FH - Hypercholesterolemia FH - Hypercholesterolemia |
| Non-Langerhans cell histiocytosis Non-Langerhans cell histiocytosis |
| MSUD - Maple syrup urine disease MSUD - Maple syrup urine disease |
| Neonatal diabetes mellitus Neonatal diabetes mellitus |
| CHARGE syndrome CHARGE syndrome |
| Microangiopathy Microangiopathy |
| PD - Parkinson disease, Morbus Parkinson, Parkinsonism PD - Parkinson disease, Morbus Parkinson, Parkinsonism |
| Ectopia lentis Ectopia lentis |
| Gluconeogenesis disorder Gluconeogenesis disorder |
| RSTS, RTS - Rubinstein-Taybi syndrome RSTS, RTS - Rubinstein-Taybi syndrome |
| RTA - Renal tubular acidosis RTA - Renal tubular acidosis |
| Focal epilepsy Focal epilepsy |
| Familial glucocorticoid deficiency Familial glucocorticoid deficiency |
| Limb malformation Limb malformation |
| ARRP - Autosomal recessive retinitis pigmentosa ARRP - Autosomal recessive retinitis pigmentosa |
| Epidermolysis bullosa Epidermolysis bullosa |
| Hyperparathyroidism Hyperparathyroidism |
| HMSN1, CMT1 - Hereditary motor and sensory neuropathies (demyelinating) HMSN1, CMT1 - Hereditary motor and sensory neuropathies (demyelinating) |
| Xeroderma pigmentosum Xeroderma pigmentosum |
| Dyskeratosis congenita Dyskeratosis congenita |
| Skeletal dysplasias with decreased bone density Skeletal dysplasias with decreased bone density |
| Hypopituitarism Hypopituitarism |
| McCune-Albright syndrome McCune-Albright syndrome |
| CNL - Chronic neuthrophilic leukemia CNL - Chronic neuthrophilic leukemia |
| Cataract Cataract |
| Distal myopathy Distal myopathy |
| WARBM - Warburg Micro Syndrome WARBM - Warburg Micro Syndrome |
| Liddle syndrome Liddle syndrome |
| HMSN, CMT - Hereditary motor and sensory neuropathy HMSN, CMT - Hereditary motor and sensory neuropathy |
| Multiple endocrine neoplasia Multiple endocrine neoplasia |
| Glioma Glioma |
| Sotos syndrome Sotos syndrome |
| Skeletal dysplasia with increased bone density Skeletal dysplasia with increased bone density |
| CHS - Chediak-Higashi syndrome CHS - Chediak-Higashi syndrome |
| Myeloproliferative neoplasm Myeloproliferative neoplasm |
| Skeletal dysplasias with joint dislocations Skeletal dysplasias with joint dislocations |
| SANDD syndrome SANDD syndrome |
| CFEOM - Congenital Fibrosis Of The Extraocular Muscles CFEOM - Congenital Fibrosis Of The Extraocular Muscles |
| Chronic myelogenous leukemia Chronic myelogenous leukemia |
| Hidradenitis suppurativa familial Hidradenitis suppurativa familial |
| Pseudohypoaldosteronism Pseudohypoaldosteronism |
| FI - Fructose intolerance FI - Fructose intolerance |
| CRD - Cone-rod dystrophy CRD - Cone-rod dystrophy |
| IGS - Imerslund–Gräsbeck syndrome IGS - Imerslund–Gräsbeck syndrome |
| ASGD - Anterior Segment Dysgenesis ASGD - Anterior Segment Dysgenesis |
| XLNSHL - X-Linked Recessive Non-Syndromic Hearing Loss XLNSHL - X-Linked Recessive Non-Syndromic Hearing Loss |
| Palmoplantar keratoderma Palmoplantar keratoderma |
| Oligosaccharidosis Oligosaccharidosis |
| Chronic Progressive External Ophthalmoplegia Chronic Progressive External Ophthalmoplegia |
| HSP, SPG - Spastic paraplegia, hereditary HSP, SPG - Spastic paraplegia, hereditary |
| MCOP - Microphthalmia/Anophthalmia MCOP - Microphthalmia/Anophthalmia |
| Ketolysis disorder Ketolysis disorder |
| MOCOD - Molybdenum cofactor deficiency MOCOD - Molybdenum cofactor deficiency |
| HPX - Hyperekplexia HPX - Hyperekplexia |
| LVNC - Left ventricular noncompaction cardiomyopathy LVNC - Left ventricular noncompaction cardiomyopathy |
| CSNB - Congenital stationary night blindness CSNB - Congenital stationary night blindness |
| Marginal zone lymphoma Marginal zone lymphoma |
| Hypercalcemia Hypercalcemia |
| Chylomicronemia Chylomicronemia |
| CED - Cranioectodermal dysplasia CED - Cranioectodermal dysplasia |
| Xanthinuria Xanthinuria |
| Arthrogryposis Arthrogryposis |
| Prolactinoma Prolactinoma |
| CMML - Chronic myelomonocytic leukemia CMML - Chronic myelomonocytic leukemia |
| nephroblastoma nephroblastoma |
| LCA - Leber congenital amaurosis LCA - Leber congenital amaurosis |
| SCID - Immunodeficiency, severe combined SCID - Immunodeficiency, severe combined |
| ADRP - Autosomal dominant retinitis pigmentosa ADRP - Autosomal dominant retinitis pigmentosa |
| NS, SRNS - Nephrotic syndrome NS, SRNS - Nephrotic syndrome |
| Colorectal cancer Colorectal cancer |
| GEFS+ - Generalized epilepsy with febrile seizures plus GEFS+ - Generalized epilepsy with febrile seizures plus |
| Skeletal dysostoses Skeletal dysostoses |
| Congenital adrenal hyperplasia Congenital adrenal hyperplasia |
| Hereditary Hemorrhagic TelangiectasiaHereditary Hemorrhagic Telangiectasia Hereditary Hemorrhagic TelangiectasiaHereditary Hemorrhagic Telangiectasia |
| Uncombable hair syndrome Uncombable hair syndrome |
| RTD - Renal tubular dysgenesis RTD - Renal tubular dysgenesis |
| AHL - Adult onset hearing loss AHL - Adult onset hearing loss |
| ADNSHL - Autosomal Dominant Non-Syndromic Hearing Loss ADNSHL - Autosomal Dominant Non-Syndromic Hearing Loss |
| Leukencephalopathy Leukencephalopathy |
| Familial erythrocytosis Familial erythrocytosis |
| PCD - Primary Ciliary Dyskinesia PCD - Primary Ciliary Dyskinesia |
| mtDNA - Mitochondrial DNA mtDNA - Mitochondrial DNA |
| Progressive myoclonus epilepsy Progressive myoclonus epilepsy |
| PH - Pulmonary hypertension PH - Pulmonary hypertension |
| T-cell acute lymphoblastic leukemia T-cell acute lymphoblastic leukemia |
| HPS - Hermansky-Pudlak syndrome HPS - Hermansky-Pudlak syndrome |
| NPHP - Nephronophthisis NPHP - Nephronophthisis |
| Cardio-Facio-Cutaneous syndrome Cardio-Facio-Cutaneous syndrome |
| SRS - Familial Silver-Russell syndrome SRS - Familial Silver-Russell syndrome |
| HTG - Hypertriglyceridemia HTG - Hypertriglyceridemia |
| Neutropenia Neutropenia |
| HPE - Holoprosencephaly HPE - Holoprosencephaly |
| RD,CRD,ARD - Refsum syndrome RD,CRD,ARD - Refsum syndrome |
| Adenomatous polyposis syndromes Adenomatous polyposis syndromes |
| HMSN2, CMT2 - Hereditary motor and sensory neuropathies (axonal) HMSN2, CMT2 - Hereditary motor and sensory neuropathies (axonal) |
| Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines |
| Ph-like acute lymphoblastic leukemia Ph-like acute lymphoblastic leukemia |
| Rhabdomyosarcoma Rhabdomyosarcoma |
| Fatty acid oxidation disorders Fatty acid oxidation disorders |
| MZL - marginal zone lymphoma MZL - marginal zone lymphoma |
| Ectodermal dysplasia Ectodermal dysplasia |
| Hypomagnesemia Hypomagnesemia |
| Albinism Albinism |
| EA - Episodic ataxia EA - Episodic ataxia |
| FIBGC - Familial idiopathic basal ganglia calcification FIBGC - Familial idiopathic basal ganglia calcification |
| ARC syndrome ARC syndrome |
| MODY diabetes MODY diabetes |
| Macrocephaly Macrocephaly |
| SLSN - Senior-Loken syndrome SLSN - Senior-Loken syndrome |
| CdLS - Cornelia de Lange syndrome CdLS - Cornelia de Lange syndrome |
| CMS - Congenital myasthenic syndrome CMS - Congenital myasthenic syndrome |
| USH1 - Usher syndrome type 1 USH1 - Usher syndrome type 1 |
| HOKPP - Hypokalemic periodic paralysis HOKPP - Hypokalemic periodic paralysis |
| ADTKD - Autosomal dominant tubulointerstitial kidney disease ADTKD - Autosomal dominant tubulointerstitial kidney disease |
| ARNSHL - Autosomal Recessive Non-Syndromic Hearing Loss ARNSHL - Autosomal Recessive Non-Syndromic Hearing Loss |
| Mastocytosis Mastocytosis |
| Hyper-IgE syndrome Hyper-IgE syndrome |
| aCML - Atypical chronic myeloid leukemia aCML - Atypical chronic myeloid leukemia |
| Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis |
| STL - Stickler Syndrome STL - Stickler Syndrome |
| Kabuki syndrome Kabuki syndrome |
| AS - Alport syndrome AS - Alport syndrome |
| STGD - Stargardt disease STGD - Stargardt disease |
| Costello syndrome Costello syndrome |
| Pena-Shokeir syndrome Pena-Shokeir syndrome |
| Kallmann syndrome Kallmann syndrome |
| Thyroid cancer Thyroid cancer |
| 3M syndrome 3M syndrome |
| Mitochondriopathies (mitochondrial and nuclear genes) Mitochondriopathies (mitochondrial and nuclear genes) |
| Hyperoxaluria Hyperoxaluria |
| Hodgkin lymphoma, hereditary Hodgkin lymphoma, hereditary |
| LQTS - Long-QT syndrome LQTS - Long-QT syndrome |
| DURS - Duane retraction syndrome DURS - Duane retraction syndrome |
| Lysosomal storage diseases Lysosomal storage diseases |
| BL - Burkitt lymphoma BL - Burkitt lymphoma |
| EDS - Ehlers-Danlos syndrome EDS - Ehlers-Danlos syndrome |
| Morbus Waldenström Morbus Waldenström |
| Perrault syndrome Perrault syndrome |
| FHM,SHM,HM - Familial hemiplegic migraine, FHM,SHM,HM - Familial hemiplegic migraine, |
| Neuroblastoma Neuroblastoma |
| CSS - Coffin-Siris syndrome CSS - Coffin-Siris syndrome |
| Ataxia Ataxia |
| NSAN - Auditory neuropathy NSAN - Auditory neuropathy |
| Adult-onset Leukencephalopathy Adult-onset Leukencephalopathy |
| Macrosomia Macrosomia |
| CCM - Cerebral cavernous malformations CCM - Cerebral cavernous malformations |
| Cowden syndrome Cowden syndrome |
| Hamartomatous polyposis syndromes Hamartomatous polyposis syndromes |
| Cystic kidney disease Cystic kidney disease |
| PD - Paroxysmal dyskinesia PD - Paroxysmal dyskinesia |
| USH2 - Usher syndrome type 2 USH2 - Usher syndrome type 2 |
| Persistent Müllerian duct syndrome Persistent Müllerian duct syndrome |
| Stomach cancer Stomach cancer |
| Usher-Syndrom Usher-Syndrom |
| Thyroid diseases Thyroid diseases |
| Cleidocranial dysplasia Cleidocranial dysplasia |
| Osteolysis Osteolysis |
| Hereditary paraganglioma-pheochromocytoma syndromes Hereditary paraganglioma-pheochromocytoma syndromes |
| Syndromic Short stature Syndromic Short stature |
| Renal carcinoma Renal carcinoma |
| CS - Cockayne syndrome CS - Cockayne syndrome |
| MDS - Myelodysplastic syndrome MDS - Myelodysplastic syndrome |
| Neutropenia, severe congenital Neutropenia, severe congenital |
| Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer |
| BWS - Beckwith-Wiedemann syndrome BWS - Beckwith-Wiedemann syndrome |
| Pachyonychia congenita Pachyonychia congenita |
| RPSY - Syndromic retinitis pigmentosa RPSY - Syndromic retinitis pigmentosa |
| Hypophosphatemic rickets /Phosphate diabetes Hypophosphatemic rickets /Phosphate diabetes |
| Glanzmann thrombasthenia Glanzmann thrombasthenia |
| Aortopathy / Aortic aneurysm Aortopathy / Aortic aneurysm |
| PTCL - peripheral T-cell lymphoma PTCL - peripheral T-cell lymphoma |
| Familial atypical multiple mole melanoma (FAMMM) syndrome Familial atypical multiple mole melanoma (FAMMM) syndrome |
| Multiple myeloma Multiple myeloma |
| Myofibromatosis, infantile Myofibromatosis, infantile |
| Breast cancer Breast cancer |
| PDS,NSEVA - Pendred syndrome PDS,NSEVA - Pendred syndrome |
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