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