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