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 |