Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Acute myeloid leukemia (AML) Chronic myeloid leukemia (CML) Chronic lymphocytic leukemia (CLL) Hairy-cell leukemia Hodgkin lymphoma Burkitt lymphoma Adult T-cell leukemia Multiple myeloma Lymphoplasmacytic lymphoma Polycythemia vera Small cell lung cancer Non-small cell lung cancer Malignant pleural mesothelioma Oral cancer Esophageal cancer Gastric cancer Pancreatic cancer Colorectal cancer Renal cell carcinoma Bladder cancer Testicular cancer Prostate cancer Penile cancer Endometrial Cancer Ovarian cancer Choriocarcinoma Vulvar cancer Cervical cancer Breast cancer Thyroid cancer Adrenal carcinoma Carcinoid Ewing's sarcoma Osteosarcoma Alveolar rhabdomyosarcoma Malignant melanoma Basal cell carcinoma Squamous cell carcinoma Kaposi's sarcoma Glioma Neuroblastoma Cancer of the anal canal Malignant islet cell carcinoma Cholangiocarcinoma Gallbladder cancer Hepatocellular carcinoma Myxoid liposarcoma Synovial sarcoma Alveolar soft part sarcoma Clear cell sarcoma of soft tissue Extraskeletal myxoid chondrosarcoma Nasopharyngeal cancer Laryngeal cancer Alzheimer's disease (AD) Parkinson's disease (PD) Amyotrophic lateral sclerosis (ALS) Huntington's disease (HD) Dentatorubropallidoluysian atrophy (DRPLA) Prion diseases Spinal and bulbar muscular atrophy (SBMA) Spinocerebellar ataxia (SCA) Ataxia telangiectasia (AT) Alexander disease Lewy body dementia (LBD) Friedreich ataxia Leber optic atrophy Glycogen storage diseases (GSD), including: von Gierke disease (GSD type Ia) Galactosemia Hereditary fructose intolerance Pyruvate dehydrogenase complex deficiency, including: Leigh syndrome Pyruvate carboxylase deficiency Canavan disease (CD) Refsum disease Cockayne syndrome Progressive supranuclear palsy (PSP) Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain Asthma Systemic lupus erythematosus Hashimoto's thyroiditis Graves' disease Allograft rejection Graft-versus-host disease Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA) Hyper IgM syndromes, autosomal recessive type, including the following three diseases: Activation-induced cytidine deaminase (AICD) defect Other humoral immunodeficiencies, including the following three diseases: Immunodeficiency, centromeric instability, facial anomalies (ICF)-syndrome Common variable immunodeficiency (CVID), including the following four diseases: Inducible T Cell costimulator (ICOS) defect IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency NK cell defects, including the following disease: CD16 deficiency T-B+Severe combined immunodeficiencies (SCIDs), including the following eight diseases: X-linked SCID T-B-Severe combined immunodeficiencies (SCIDs), including the following four diseases: Adenosine deaminase (ADA) deficiency Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT) [DS:H00064] Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect Defects of toll-like receptor signaling, including the following disease: Il-1 receptor-associated kinase 4 (IRAK-4) deficiency Chemokine receptor defect, including the following disease: WHIM syndrome Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD) Leukocyte adhesion deficiency (LAD), including the following four diseases: Leukocyte adhesion deficiency (I) Neutropenic disorders, including the following three diseases: Kostmann syndrome Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome Classic complement pathway component defects, including the following eight diseases: C1q alpha-chain deficiency Late complement pathway defects, including the following seven diseases: C5 deficiency Alternative complement pathway component defects, including the following four diseases: Factor B deficiency Mannose-binding lectin pathway component defects, including the following two diseases: Mannose-binding lectin deficiency Complement regulatory protein defects, including the following six diseases: C1 inhibitor deficiency (hereditary angioedema) Other well-defined immunodeficiency syndromes, including the following eight diseases: Wiskott-Aldrich syndrome Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a Familial hemophagocytic lymphohistiocytosis (FHPL), including the following three diseases: Perforin deficiency Cholera Typhoid fever Paratyphoid fever Salmonellosis Fructose-1,6-bisphosphatase deficiency Congenital sucrase-isomaltase deficiency Congenital lactase deficiency Primary hyperoxaluria (HP) Congenital disorders of glycosylation (CDG) type I Congenital disorders of glycosylation (CDG) type II Dystroglycanopathy Multiple exostoses Mucopolysaccharidosis type IV (MPS4), including: Morquio syndrome A (MPS4A) GM2 gangliosidoses, including: Tay-Sachs disease (type I) Fabry disease Gaucher disease Metachromatic leukodystrophy (MLD) Mucopolysaccharidosis type I (MPS1) Mucopolysaccharidosis type II (MPS2) Mucopolysaccharidosis type III (MPS3), including: Sanfilippo A syndrome (MPS3A) Mucopolysaccharidosis type VI (MPS6) Mucopolysaccharidosis type VII (MPS7) Mucopolysaccharidosis type IX (MPS9) X-linked ichthyosis (XLI) Krabbe disease Niemann-Pick type C disease (NPC), including: Niemann-Pick disease, type C1 Niemann-Pick disease (NPD), including; Farber lipogranulomatosis alpha-Mannosidosis beta-Mannosidosis Fucosidosis Sialidosis Mucolipidosis II and III, including: Mucolipidosis II / I-cell disease Mucolipidosis IV Aspartylglucosaminuria (AGU) Alpha-N-acetylgalactosaminidase deficiency, including: Schindler disease Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD) Lysosomal acid lipase deficiency, including: Wolman disease Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1) Danon disease Cerebrotendinous xanthomatosis Sitosterolemia Familial combined hyperlipidemia (FCHL) Hyperlipoproteinemia, type I Hypercholesterolemia, including: Hypercholesterolemia, autosomal dominant Hyperlipoproteinemia, type III Hyperlipoproteinemia, type V Lecithin:cholesterol acyltransferase deficiency Tangier disease Abetalipoproteinemia Smith-Lemli-Opitz syndrome Sjogren-Larsson syndrome Alkaptonuria Carbamoyl phosphate synthetase I deficiency Tyrosinemia Hermansky-Pudlak syndrome (HPS) Phenylketonuria (PKU) Oculocutaneous albinism (OCA) Ocular albinism Piebaldism Histidinemia Maple syrup urine disease (MSUD) Isovaleric acidemia (IVA) Methylmalonic aciduria (MMA) Propionic acidemia Adrenoleukodystrophy (ALD), including: Schilder-Addison Complex Glutaric acidemia, including: Glutaric acidemia, type I (GA1) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency Holocarboxylase synthetase deficiency 3-Methylcrotonylglycinuria Cystathioninuria Homocystinuria Hypermethioninemia Citrullinemia (CTLN) Hyperargininemia Ornithine transcarbamylase deficiency Hyperlysinemia Ornithinaemia Hyperprolinemia (HP) Nonketotic hyperglycinemia Xanthinuria Dihydropyrimidine dehydrogenase deficiency Lesch-Nyhan syndrome Adenine phosphoribosyltransferase deficiency Phosphoribosylpyrophosphate synthetase I superactivity Adenylosuccinate lyase deficiency Orotic aciduria Dihydropyrimidinase deficiency Beta-ureidopropionase deficiency Erythropoietic porphyria (EP), including: Erythropoietic protoporphyria (EPP) Hepatic porphyria, including: Porphyria Cutanea Tarda (PCT) Acatalasia, including: Acatalasemia Zellweger syndrome spectrum, including: Zellweger syndrome (ZS) Mevalonate kinase deficiency Rhizomelic chondrodysplasia punctata, including: Rhizomelic chondrodysplasia punctata, type I (RCDP1) Hyperbilirubinemia Menkes disease (MD) Wilson disease Hemochromatosis (HFE) Acrodermatitis enteropathica (AEZ) Hypophosphatasia Hypophosphatemic rickets, including: X-Linked dominant hypophosphatemia (XLH) Congenital adrenal hyperplasia (CAH) Pulmonary surfactant metabolism dysfunction (SMDP) Cystic fibrosis (CF) Hemophilia, including: Hemophilia A (HEMA) Factor V deficiency Combined deficiency of factors V and VIII (F5F8D) Afibrinogenemia Inherited thrombophilia Bernard-Soulier syndrome Thrombotic thrombocytopenic purpura Glanzmann thrombasthenia Congenital amegakaryocytic thrombocytopenia (CAMT) Thalassemia Sickle cell anemia (SCA) Hereditary spherocytosis (SPH) Hereditary elliptocytosis (HE) Hereditary stomatocytosis (HSt) Macrothrombocytopenia Pelger-Huet anomaly Methemoglobinemia Congenital polycythemia Diamond-Blackfan anemia (DBA) Fanconi anemia Bartter syndrome Gitelman syndrome Combined proximal and distal renal tubular acidosis (RTA type 3) Liddle syndrome Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1) Pseudohypoparathyroidism Primary hyperparathyroidism Thyroid hormone resistance syndrome, including: Generalized thyroid hormone resistance Congenital nongoitrous hypothyroidism (CHNG) Thyroid dyshormonogenesis Congenital nephrogenic diabetes insipidus (NDI) Neurohypophyseal diabetes insipidus (NPDI) Pituitary Dwarfism (PD) Hypogonadotropic hypogonadism, including: Kallmann syndrome (KAL) Aldosterone synthase deficiency Apparent mineralocorticoid excess syndrome Pigmented micronodular adrenocortical disease (PPNAD) Meckel syndrome (MKS) Spina bifida Acrocallosal syndrome Charcot-Marie-Tooth disease (CMT) Hereditary spastic paraplegia (SPG) Holoprosencephaly (HPE) Lissencephaly (LIS) Primary microcephaly (MCPH) Periventricular nodular heterotopia (PVNH) Polymicrogyria, including: Bilateral frontal polymicrogyria (BFP) Multiple sulfatase deficiency (MSD) Pycnodysostosis Papillon-Lefevre syndrome Cystinosis Galactosialidosis Enterohemorrhagic Escherichia coli (EHEC) infection Enteropathogenic Escherichia coli (EPEC) infection Uropathogenic Escherichia coli (UPEC) infection Enterotoxigenic Escherichia coli (ETEC) infection GM1 gangliosidosis Cryopyrin associated periodic syndrome (CAPS), including the following three diseases: Muckle-Wells syndrome (MWS) Ebola haemorrhagic fever Crimean-Congo hemorrhagic fever Blau syndrome Crohn's disease Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome Familial Mediterranean fever (FMF) Recurrent hydatidiform moles (RHM) Aicardi-Goutieres Syndrome (AGS) Familial chilblain lupus (FCL) Hypertrophic cardiomyopathy (HCM) Arrhythmogenic right ventricular cardiomyopathy (ARVC) Dilated cardiomyopathy (DCM) Viral myocarditis Defects in RecQ helicases, including: Bloom's syndrome Plague Yersiniosis Shigellosis Enterobacter infection Klebsiella infection Citrobacter infection Serratia infection Haemophilus influenzae infection Chancroid Pasteurellosis Vibrio parahaemolyticus infection Vibrio vulnificus infection Acinetobacter infection Q fever Legionellosis Tularemia Pseudomonas aeruginosa infection Meningococcal infections Gonococcal infections Glanders Melioidosis Pertussis Helicobacter pylori infection Campylobacter infection Typhus fever Spotted fever Scrub typhus Brucellosis Bartonellosis, including: Cat-scratch disease Trench fever Anthrax Foodborne Bacillus cereus intoxication Methicillin-resistant Staphylococcal aureus (MRSA) infection Vancomycin-resistant Staphylococcal aureus (VRSA) infection Listeriosis Streptococcal infection Foodborne Clostridium perfringens intoxication Gas gangrene Tetanus Pseudomembranous colitis Botulism Vancomycin-resistant enterococci infection Mycoplasma pneumonia Tuberculosis Diphtheria Leprosy Nocardiosis Chlamydial urethritis Lymphogranuloma venereum Trachoma Psittacosis Chlamydial pneumonia Whipple's disease Borreliosis, including: Lyme disease Syphilis Leptospirosis Cryptosporidiosis African trypanosomiasis Chagas disease Leishmaniasis Amoebiasis Malaria Giardiasis Candidiasis Cryptococcosis Herpes simplex infection Varicella Infectious mononucleosis Cytomegalovirus infection Exanthema subitum Progressive multifocal leukoencephalopathy (PML) Smallpox Monkeypox Viral wart Acute poliomyelitis Rabies Lyssavirus infection Mosquito-borne viral encephalitis, including: Japanese encephalitis Tick-borne viral encephalitis Dengue Mosquito-borne viral fevers, including: Chikungunya fever Arthropod-borne viral fevers, including: Oropouche fever Yellow fever South American (new world arenaviral) hemorrhagic fevers, including: Argentine hemorrhagic fever Lassa fever B virus infection Hemorrhagic fever with renal syndrome (HFRS) Hantavirus pulmonary syndrome (HPS) Henipavirus infection, including: Hendra virus infection Enterovirus infection Measles Rubella, including: Congenital rubella syndrome Mumps Ross River fever Influenza Avian influenza Parainfluenza infections Respiratory syncytial virus infection Severe acute respiratory syndrome Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP) Erythema infectiosum Marburg disease Acquired immunodeficiency syndrome (AIDS) Peroxisomal beta-oxidation enzyme deficiency, including: Acyl-CoA oxidase (ACOX) deficiency Type I diabetes mellitus Type II diabetes mellitus Maturity onset diabetes of the young (MODY) Hepatitis A Hepatitis B Hepatitis C Hepatitis D Hepatitis E Omsk hemorrhagic fever Alstrom syndrome (AS) Bardet-Biedl syndrome (BBS) Congenital generalized lipodystrophy (CGL) Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1) Relapsing fever Distal renal tubular acidosis (RTA type 1) Proximal renal tubular acidosis (RTA type 2) Fibrodysplasia ossificans progressiva (FOP) Ossification of the posterior longitudinal ligament of spine (OPLL) Hereditary dentine disorders, including the following three diseases: Dentine dysplasia, type II Holt-Oram syndrome Camurati-Engelmann disease Toxoplasmosis Osteopetrosis, including: Osteopetrosis, severe neonatal or infantile forms Paget's disease of bone and related disorders, including: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) Shwachman-Diamond syndrome (SDS) Rett syndrome Progressive osseous heteroplasia (POH) Campomelic dysplasia (CD) Osteoglophonic dysplasia (OD) Osteopathia striata with cranial sclerosis Osteoarthritis with mild chondrodysplasia Craniofacial-deafness-hand syndrome HEM skeletal dysplasia Familial osteochondritis dissecans Oculodentodigital dysplasia Sclerosing bone dysplasias, including: Endosteal hyperostosis Osteoporosis-pseudoglioma syndrome (OPPG) Disorders caused by loss-of-function of LEMD3, including: Osteopoikilosis Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC) Oral-facial-digital syndrome 1 Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease Fronto-Otopalatodigital Osteodysplasia, including: Otopalatodigital syndrome, type I Primary hypertrophic osteoarthropathy (PHO) Craniosynostosis, including: Pfeiffer syndrome Synpolydactyly Hand-foot-genital syndrome FLNB-related disorders, including: Stuve-Wiedemann syndrome Currarino syndrome Patella dysplasias, including: Small patella syndrome (SPS) Fragile X Syndrome, including: Fragile X Syndrome (FXS) Grebe dysplasia Fibular hypoplasia and complex brachydactyly Acromesomelic dysplasia with genital anomalies Mitochondrial DNA depletion syndrome (MDS) Acromesomelic dysplasia, Maroteaux type Split-hand/foot malformation (SHFM) Torg-Winchester syndrome Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D) Schneckenbecken dysplasia Enlarged parietal foramina/cranium bifidum Multiple epiphyseal dysplasia (MED) Pseudoachondroplasia (PSACH) Prader-Willi and Angelman syndromes, including: Angelman syndrome (AS) Metaphyseal dysplasias, including: Metaphyseal dysplasia, Schmid type Non-syndromic X-linked mental retardation Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD) Brachydactyly, including: type A Brachydactyly, including: Brachydactyly type C Other brachydactylies, including: Proximal symphalangism Robinow syndrome SOST related disorders, including: Sclerosteosis Trichodentoosseous dysplasia Diaphyseal dysplasia with anemia (Ghosal) Craniometaphyseal dysplasia SHOX-related haploinsufficiency disorders, including: Isolated short stature Heparan sulfate proteoglycan gene defects, including: Dyssegmental dysplasia, Silverman-Handmaker type Desbuquois syndrome Eiken dysplasia Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) Cherubism Gnathodiaphyseal dysplasia Spondylocarpotarsal synostosis syndrome Keutel syndrome Fibrous dysplasia, polyostotic Pallister-Hall syndrome EVC-related disorders, including: Ellis-van Creveld syndrome Rubinstein-Taybi syndrome FGFR3-related short limb skeletal dysplasias, including: Achondroplasia Osteogenesis imperfecta Dyskeratosis congenita (DC), including: X-linked dyskeratosis congenita (DKCX) Blomstrand syndrome 3M syndrome Feingold syndrome Short rib-polydactyly syndrome Permanent neonatal diabetes mellitus (PNDM) Transient neonatal diabetes mellitus (TNDM) Bruck syndrome The DTDST-related disorders, including: Achondrogenesis IB (ACG IB) Isolated orofacial clefts, including: Cleft lip with or without cleft palate Spondylocostal dysostosis (SCD) RMRP related disorders, including: Anauxetic dysplasia (AD) Type XI collagenopathies, including: Stickler syndrome type 2 Type II collagenopathies, including: Achondrogenesis II Cleidocranial dysplasia TRPV4-related skeletal dysplasias, including: Autosomal dominant brachyolmia Noonan syndrome and related disorders, including: Noonan syndrome (NS) TRPV4-related peripheral neuropathies, including: Congenital distal spinal muscular atrophy (CDSMA) Disorders of fatty-acid oxidation, including: Medium-chain (MC) acyl-CoA dehydrogenase (AD) deficiency (MCADD) Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Retinitis pigmentosa (RP) Frontonasal dysplasia Cranioectodermal dysplasia Joubert syndrome Venous malformations, including: Sporadic venous malformation RASA1-related disorders, including: Parkes-Weber slndrome Hereditary hemorrhagic telangiectasia (HHT) Cerebral cavernous malformation Lymphedemas, including: Lymphedema, hereditary I Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) Nephronophthisis-medullary cystic kidney disease, including Senior-Loken syndrome PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) Uromodulin-associated kidney diseases, including: Medullary cystic kidney disease 2 Polycystic kidney disease Renal-hepatic-pancreatic dysplasia Septo-optic dysplasia Polycystic liver disease Atrial septal defect Atrioventricular septal defect Brunner syndrome Tetralogy of Fallot Transposition of great arteries Alagille syndrome Glycerol kinase deficiency (GKD), including: Hyperglycerolemia Congenital supravalvar aortic stenosis Bicuspid aortic valve Char syndrome CHARGE syndrome Cutis laxa, including: Autosomal dominant cutis laxa (ADCL) Geroderma osteodysplasticum von Hippel-Lindau syndrome Pseudoxanthoma elasticum, including: Pseudoxanthoma elasticum (PXE) Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome Dystrophinopathies, including: Duchenne muscular dystrophy (DMD) Emery-Dreifuss muscular dystrophy Primary ciliary dyskinesia, including: Primary ciliary dyskinesia Sarcoglycanopathies, including: Limb-girdle muscular dystrophy (LGMD) 2C Dysferlinopathies, including: Miyoshi myopathy (MM) Caveolinopathies, including: Limb-girdle muscular dystrophy (LGMD) 1C Myotonic dystrophy (DM) Aarskog-Scott syndrome Kabuki syndrome Johanson-Blizzard syndrome ESCO2-related disorders, including: Roberts syndrome Townes-Brocks syndrome Coffin-Lowry syndrome (CLS) Renal tubular dysgenesis Pierson syndrome Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS) MYH9-related kidney diseases, including: Epstein syndrome Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) Schimke immunoosseous dysplasia Alport syndrome Benign familial hematuria Opitz-GBBB syndrome Epidermolysis bullosa simplex, including: Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) Epidermolysis bullosa, hemidesmosomal, including: Epidermolysis bullosa, generalized atrophic benign (GABEB) Epidermolysis bullosa, junctional, including: Epidermolysis bullosa, junctional, Herlitz type (JEB-H) Epidermolysis bullosa, dysprophic, including: Kindler syndrome Familial exudative vitreoretinopathy (FEVR), including: Exudative vitreoretinopathy 1 (EVR1) Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A) Facioscapulohumeral muscular dystrophy (FSHD) Calpainopathy Limb-girdle muscular dystrophy (LGMD) Distal muscular dystrophies, including: Welander distal myopathy (WDM) Myofibrillar myopathies (MFM), including: Desminopathy (MFM1) Nonaka distal myopathy (NM) Snyder-Robinson syndrome 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD 46,XX disorders of sex development (Disorders related to androgen excess), including: Congenital adrenal hyperplasias 46,XX disorders of sex development (Other), including: Mullerian aplasia and hyperandrogenism Hutchinson-Gilford progeria syndrome Glucocorticoid-remediable aldosteronism (GRA) Hypertension exacerbated in pregnancy Deafness, autosomal dominant Deafness, autosomal recessive Early infantile epileptic encephalopathy 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias 46,XY disorders of sex development (Other), including: Persistent Mullerian duct syndrome Treacher Collins syndrome IRF6-related disorders, including: Popliteal pterygium syndrome (PPS) Primary open angle glaucoma Infantile cortical hyperostosis Infantile systemic hyalinosis and juvenile hyaline fibromatosis Amelogenesis imperfecta Bowen-Conradi syndrome (BCS) Desmosterolosis Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) Kenny-Caffey syndrome Axenfeld-Rieger syndrome (ARS) Alopecia neurologic defects and endocrinopathy syndrome (ANE syndrome) Hypoparathyroidism-retardation-dysmorphism syndrome Hajdu-Cheney syndrome Familial cholestasis, including: Progressive familial intrahepatic cholestasis (PFIC) Tooth agenesis Nephrotic syndrome and focal segmental glomerulosclerosis Premature ovarian failure Congenital bile acid synthesis defect (CBAS), including: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency (CBAS1) Acheiropodia Rheumatoid arthritis Cornelia de Lange syndrome (CdLS) Heterotaxy Duane retraction syndrome Duane-radial ray syndrome and IVIC syndrome Aniridia Tetra-amelia Ulnar-mammary syndrome Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome) Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) Limb-mammary syndrome ADULT syndrome Lacrimo-auriculo-dento-digital syndrome (LADD) Tooth and nail syndrome Ectodermal dysplasia/skin fragility syndrome Incontinentia pigmenti Odontoonychodermal dysplasia Ectodermal dysplasia-syndactyly syndrome (EDSS) Ectodermal dysplasia, hidrotic Ectodermal dysplasia, pure hair-nail type (HNED) Allan-Herndon-Dudley syndrome Ectodermal dysplasia, including: Ectodermal dysplasia, anhidrotic Solitary median maxillary central incisor syndrome Marfan syndrome, including: Marfan syndrome (MFS) Barth syndrome (BTHS) McLeod syndrome Scapuloperoneal myopathy (SPM) Reducing body myopathy (RBM) Syndromic X-linked mental retardation, including: Turner type (MRXST) Shprintzen-Goldberg syndrome Congenital contractural arachnodactyly (CCA) MASS phenotype Ectopia lentis Restrictive dermopathy Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency Mandibuloacral dysplasia Peutz-Jeghers syndrome Woolly hair, including: Autosomal-dominant woolly hair (ADWH) Anemia due to disorders of glutathione metabolism, including: Glucose-6-phosphate dehydrogenase (G6PD) deficiency Naxos disease and Carvajal syndrome Monilethrix Netherton syndrome Pseudofolliculitis barbae Weill-Marchesani syndrome, including: Weill-Marchesani syndrome Anemia due to disorders of nucleotide metabolism, including: Adenylate kinase (AK) deficiency Acrocapitofemoral dysplasia Congenital primary aphakia Aplasia of lacrimal and salivary glands Achodrogenesis type IA Hypomyelinating leukodystrophy (HLD) Primary failure of tooth eruption Acne inversa Woodhouse-Sakati syndrome Anonychia congenita Pachyonychia congenita, including: Jadassohn-Lewandowsky syndrome Bifid nose with or without anorectal and renal anomalies Manitoba oculotrichoanal syndrome Fraser syndrome Familial advanced sleep phase syndrome Delayed sleep phase syndrome Aland Island eye disease Epidermolytic hyperkeratosis (EHK) Lowe syndrome Ichthyosis bullosa of Siemens Dent disease, including: Dent disease 1 Mal de Meleda Haim-Munk syndrome X-linked myopathy with postural muscle atrophy (XMPMA) Nemaline myopathy Central core disease Centronuclear myopathy Congenital fiber type disproportion (CFTD) Cap myopathy Myosin storage myopathy (MSM) Oculopharyngeal muscular dystrophy (OPMD) Myotonia congenita, including: Autosomal dominant myotonia congenita (Thomsen disease) Bart-Pumphrey syndrome Ichthyosis hystrix, Curth-Macklin type Naegeli-Franceschetti-Jadassohn syndrome Birk Barel mental retardation syndrome (BBMRS) Erythrokeratodermia variabilis Russell-Silver syndrome Keratitis-ichthyosis-deafness syndrome Beckwith-Wiedemann syndrome Vohwinkel syndrome, including: Vohwinkel syndrome (VS) Darier disease Palmoplantar keratoderma with deafness Striate palmoplantar keratoderma Sotos syndrome and Weaver syndrome Leprechaunism Long QT syndrome, including: Romano-Ward syndrome Pyogenic bacterial infections, recurrent, due to MYD88 deficiency Epidermolytic palmoplantar keratoderma (EPPK) Non-epidermolytic palmoplantar keratoderma (NEPPK) White sponge nevus Short QT syndrome Meesmann corneal dystrophy Bosley-Salih-Alorainy syndrome and Athabascan brainstem dysgenesis syndrome Brugada syndrome (BRS) Sick sinus syndrome (SSS) Familial idiopathic ventricular fibrillation Atrial fibrillation Sorsby fundus dystrophy Harlequin ichthyosis Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroderma (NBCIE) Ichthyosis vulgaris Dorfman-Chanarin syndrome Acral peeling skin syndrome Ichthyosis with confetti Ichthyosis with hypotrichosis Ichthyosis follicularis, alopecia, and photophobia syndrome Ichthyosis prematurity syndrome Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome Paramyotonia congenita (PMC) Potassium-aggravated myotonias (PAMs), including: Myotonia fluctuans Hyperkalemic periodic paralysis (HyperPP) Hypokalemic periodic paralysis (HypoPP) Thyrotoxic hypokalemic periodic paralysis (TPP) Andersen-Tawil syndrome (ATS) Episodic ataxias Keratosis follicularis spinulosa decalvans Asphyxiating thoracic dystrophy Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome Urofacial syndrome 3-Methylglutaconic aciduria (MGCA) Acrokeratosis verruciformis Pitt-Hopkins syndrome, including: Pitt-Hopkins syndrome Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia Progressive pseudorheumatoid dysplasia (PPRD) Waardenburg syndrome (WS) Spondyloepiphyseal dysplasia tarda SEMD, Pakistani type SEMD, Omani type Transient bullous dermolysis of the newborn Cri du chat syndrome Spondyloepiphyseal dysplasia, Kimberley type Wolcott-Rallison syndrome SEMD, Matrilin type Nonsyndromic autosomal recessive mental retardation (NS-ARMR) Hyperekplexia Congenital myasthenic syndrome Inherited erythromelalgia (IEM) Paroxysmal extreme pain disorder (PEPD) Non-syndromic autosomal dominant mental retardation Nav1.7-associated congenital insensitivity to pain (CIP) Familial or sporadic hemiplegic migraine Congenital motor nystagmus (CMN) Spondylometaepiphyseal dysplasia, short limb-hand type Tarsal-carpal coalition syndrome Usher syndrome (US) Atrichia with papular lesions Schopf-Schulz-Passarge syndrome Hypotrichosis and recurrent skin vesicles Febrile seizures, including: Febrile convulsions Localized autosomal recessive hypotrichosis Congenital hypotrichosis with juvenile macular dystrophy Hypotrichosis simplex of scalp Congenital stationary night blindness (CSNB), including: CSNB type 1 (CSNB1) Hoyeraal-Hreidarsson syndrome Keratoconus Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Disseminated superficial actinic porokeratosis (DSAP) Warburg micro syndrome Poikiloderma with neutropenia Aromatase excess syndrome Seborrhea-like dermatitis with psoriasiform element Dermatopathia pigmentosa reticularis Martsolf syndrome Familial carpal tunnel syndrome Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Loeys-Dietz syndrome (LDS) Familial thoracic aortic aneurysm and dissection (TAAD) Ehlers-Danlos syndrome (EDS), including: EDS classical type (EDS1/2) Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) Multiple cutaneous and uterine leiomyomata Vitreoretinal degeneration, including: Stickler syndrome type I (STL1) Benign familial neonatal and infantile epilepsies, including: Benign familial neonatal epilepsy (BFNE) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) Idiopathic generalized epilepsies (IGEs), including: Childhood absence epilepsy (CAE) Autosomal dominant temporal lobe epilepsy (ADTLE) Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD) Distal arthrogryposis (DA) Trichomoniasis Laryngoonychocutaneous syndrome Vitelliform macular dystrophy, including: Best disease / Juvenile vitelliform macular dystrophy (VMD2) Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) Branchiooculofacial syndrome (BOFS) Birt-Hogg-Dube syndrome Stargardt disease (STGD) Bjornstad syndrome Macular degeneration, including: Age-related macular degeneration (ARMD) Renal agenesis and Renal adysplasia ABCD syndrome Calcification of joints and arteries Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD) Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) Brooke-Spiegler syndrome Familial cylindromatosis Multiple familial trichoepithelioma Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) Primary dystonia Core neuroacanthocytosis syndromes, including: Chorea-acanthocytosis (ChAc) Neurodegeneration with brain iron accumulation (NBIA) Guanidinoacetate methyltransferase (GAMT) deficiency Succinic semialdehyde dehydrogenase (SSADH) deficiency GLUT1 deficiency syndrome (GLUT1DS) Leber congenital amaurosis (LCR) Congenital fibrosis of the extraocular muscles (CFEOM) Porencephaly Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) Infantile progressive bulbar palsy, including: Brown-Vialetto-Van Laere syndrome (BVVLS) Epidermodysplasia verruciformis Hartnup disorder Hailey-Hailey disease Familial amyloidosis Fuhrmann syndrome Al-Awadi/Raas-Rothschild syndrome Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT) Creatine deficiency syndrome, including: Arginine:glycine amidinotransferase deficiency (AGAT deficiency) Frontorhiny Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses Klippel-Feil syndrome(KFS) Cenani-Lenz syndactyly syndrome Wolfram syndrome (WFS) Triphalangeal thumb, including: Triphalangeal thumb Distal hereditary motor neuropathies (dHMN) Oligodontia-colorectal cancer syndrome Marie-Unna hereditary hypotrichosis (MUHH) Guttmacher syndrome Benign hereditary chorea Pancreatic agenesis Tourette syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Trichotillomania Lethal congenital contractural syndrome (LCCS) Trichothiodystrophy non-photosensitive type 1 (TTDN1) Radioulnar synostosis with amegakaryocytic thrombocytopenia Stapes ankylosis with broad thumb and toes Leukoencephalopathy with vanishing white matter Brachydactyly-syndactyly syndrome Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) Trismus-pseudocamptodactyly syndrome Cousin syndrome Leukoencephalopathy with dystonia and motor neuropathy Megalencephalic leukoencephalopathy with subcortical cysts (MLC) Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC) Brain small vessel disease with Axenfeld-Rieger anomaly Cystic leukoencephalopathy without megalencephaly Perry syndrome Dyschromatosis symmetrica hereditaria Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS) Cocoon syndrome Lipoid proteinosis Familial progressive hyperpigmentation Hypomelanosis of Ito Donnai-Barrow syndrome Lipoprotein glomerulopathy Nephrolithiasis/osteoporosis, hypophosphatemic MED12-related disorders, including: Lujan-Fryns syndrome (LFS) Azoospermia, including: Azoospermia Combined oxidative phosphorylation deficiency (COXPD) Bronchiectasis with or without elevated sweat chloride Skin fragility-woolly hair syndrome FG syndrome (FGS) Basal cell nevus syndrome Lymphangioleiomyomatosis (LAM) Pontocerebellar hypoplasia Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) Lysinuric protein intolerance (LPI) Geleophysic dysplasia Cystinuria Speech-language disorder 1 (SPCH1) Congenital clubfoot Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Iminoglycinuria Macrocephaly, alopecia, cutis laxa, and scoliosis Kleefstra syndrome Mowat-Wilson syndrome Cleft palate with ankyloglossia Hirschsprung disease (HD) Dicarboxylic aminoaciduria Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) Choreoathetosis, hypothyroidism, and neonatal respiratory distress Warsaw breakage syndrome Tuberous sclerosis complex (TSC) Congenital central hypoventilation syndrome (CCHS) Congenital dyserythropoietic anemias (CDAs) Conotruncal heart malformations, including: Double-outlet right ventricle Arterial tortuosity syndrome Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Revesz syndrome Schinzel-Giedion midface retraction syndrome Congenital systemic glutamine deficiency (CSGD) Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency Growth retardation, developmental delay, coarse facies, and early death Chylomicron retention disease (CRD) Nephropathy with pretibial epidermolysis bullosa and deafness Congenital vertical talus Hypoalphalipoproteinemia Growth hormone insensitivity with immunodeficiency Tropical calcific pancreatitis Hereditary pancreatitis Caudal duplication anomaly Cold-induced sweating syndrome (CISS) and Crisponi syndrome (CRISPS) Goldberg-Shprintzen megacolon syndrome Precocious puberty, including: Central precocious puberty (CEPREPU) Factor XI deficiency Neutropenia, severe congenital 4, autosomal recessive Cohen syndrome Factor XII deficiency Rabson-Mendenhall syndrome TARP syndrome Dowling-Degos disease Factor XIII deficiency Arts syndrome Pilomatricoma Renal hypouricemia (RHUC) Focal dermal hypoplasia Arthrogryposis, renal dysfunction, and cholestasis Reis-Bucklers corneal dystrophy (RBCD) Thiel-Behnke dystrophies (TBCD) Gelatinous drop-like corneal dystrophy (GDCD) Macular corneal dystrophy (MCD) Granular corneal dystrophies (GCD), including: Corneal dystrophy Groenouw type I Lattice corneal dystrophies (LCD), including: Biber-Haab-Dimmer dystrophy Fleck corneal dystrophy (FCD) Congenital stromal corneal dystrophy (CSCD) Schnyder corneal dystrophy (SCD) Fuchs corneal dystrophy (FECD) Posterior polymorphous corneal dystrophy (PPCD) RIDDLE syndrome Congenital hereditary endothelial dystrophy (CHED) Thiopurine S-methyltransferase deficiency (TPMT deficiency) RAPADILINO syndrome AICA-ribosiduria Adiponectin deficiency Raine syndrome Skeletal defects, genital hypoplasia, and mental retardation Juvenile primary lateral sclerosis Achromatopsia Endocrine-cerebro-osteodysplasia syndrome Bradyopsia Blue cone monochromacy Rotaviral enteritis Colorblindness, including: Dichromacy Trichorhinophalangeal dysplasia Thrombocytopenia (THC) Caudal regression syndrome and Sirenomelia Nevo syndrome Ataxia with isolated vitamin E deficiency (AVED) Sideroblastic anemia, including: Pyridoxine-refractory autosomal recessive sideroblastic anemia (PRARSA) Alpha-2-plasmin inhibitor (a2-PI) deficiency Bare lymphocyte syndrome (BLS) type1 Bare lymphocyte syndrome (BLS) type2 Multiple pterygium syndrome, including: Multiple pterygium syndrome, lethal type (LMPS) Fetal akinesia deformation sequence (FADS) Enterokinase deficiency Mohr-Tranebjaerg syndrome Microcephaly, Amish type Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) Seckel syndrome Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) Familial skewed X-chromosome inactivation Combined deficiency of vitamin K-dependent clotting factors (VKCFD) Amish infantile epilepsy syndrome CATSHL syndrome Alternating hemiplegia of childhood Coenzyme Q10 deficiency Retinal vasculopathy with cerebral leukodystrophy (RVCL) COACH syndrome Generalized arterial calcification of infancy Dimethylglycine dehydrogenase deficiency (DMGDHD) Velocardiofacial syndrome Dopamine beta-hydroxylase deficiency Hereditary angioedema Choroid plexus papilloma C syndrome, including: Opitz trigonocephaly syndrome Newfoundland rod-cone dystrophy (NFRCD) Occult macular dystrophy (OMD) Adrenocorticotropic hormone deficiency Oculo-auricular syndrome Adult i phenotype Sparganosis Jalili syndrome Primary bile acid malabsorption Choanal atresia and lymphedema Metachondromatosis Catecholaminergic polymorphic ventricular tachycardia Optic atrophy (OPA) Rhodococcus equi infection Diseases of the tricarboxylic acid cycle, including: Fumarase (FH) deficiency Juvenile polyposis syndrome Hereditary mixed polyposis syndrome Familial adenomatous polyposis Renal coloboma syndrome (RCS) Anophthalmia and microphthalmia (A/M) Argininosuccinic aciduria (ARGINSA) Cornea plana congenita Lethal arthrogryposis with anterior horn cell disease Orthostatic intolerance (OI) N-acetylglutamate synthase (NAGS) deficiency Congenital bilateral absence of vas deferens L1 syndrome, including: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Posterior column ataxia with retinitis pigmentosa (PCARP) Vesicoureteral reflux Cerebellar ataxia cayman type (ATCAY) Ovarian hyperstimulation syndrome (OHSS) Bamforth-Lazarus syndrome Aerococcus urinae infection Buruli ulcer Onchocerciasis Dracunculiasis Schistosomiasis Trichuriasis Cysticercosis Liver fluke disease Gordonia bronchialis infection Tsukamurella infections Corynebacterium ulcerans infection Molluscum contagiosum Paroxysmal nocturnal hemoglobinuria (PNH) Pediculosis, including: Head lice infestation Giant kidney worm infection Toxocariasis, including: Visceral larva migrans Gnathostomiasis Anisakiasis Capnocytophaga canimorsus infection Babesiosis Mansonelliasis Histoplasmosis Human metapneumovirus infection Simkania negevensis infection Pentosuria Bordetella petrii infection Proteus mirabilis infection Aggregatibacter aphrophilus infection Stenotrophomonas maltophilia infection Vibrio furnissii infection Acute alcohol sensitivity Moraxella catarrhalis infection Shewanella infection Aeromonas infection Peters anomaly, including: Peters plus syndrome Alpha-methylacetoacetic aciduria Bordetella hinzii infection Fletcher factor deficiency 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency Ralstonia pickettii infection Achromobacter xylosoxidans keratitis Phosphoserine aminotransferase (PSAT) deficiency Bordetella bronchiseptica infection Bordetella holmesii infection Diphyllobothriasis Lymphatic filariasis Balantidiasis Pigmented paravenous chorioretinal atrophy (PPCA) Dientamoebiasis Ascariasis Enterobiasis Human hookworm infections, including: Ancylostomiasis Paragonimiasis Eosinophil peroxidase deficiency Syndactyly Pyruvate kinase (PK) deficiency, including: Red cell pyruvate kinase (PK) deficiency Cerebral palsy Pentastomiasis Trichinosis Strongyloidiasis Combined lipase deficiency (CLD) Pituitary adenomas, including: Multiple endocrine neoplasia type 1 (MEN1) Alpha-1-antitrypsin (A1AT) deficiency Loiasis Cranio-lenticulo-sutural dysplasia (CLSD) Plasminogen activator inhibitor type 1 (PAI-1) deficiency Intestinal fluke infections, including: Fasciolopsiasis CD36 deficiency Chronic mucocutaneous candidiasis (CMC) Pneumothorax Cortisone reductase deficiency (CRD) Polyhydramnios, megalencephaly, and symptomatic epilepsy Acid phosphatase deficiency Ocular coloboma, including: Coloboma of iris choroid and retina (COI) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) Choroideremia (CHM) Majeed syndrome Progressive external ophthalmoplegia (PEO) Prolidase deficiency (PD) Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency Pulmonary alveolar proteinosis (PAP) HMG-CoA synthase (HMGCS) deficiency Pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency Hereditary pyropoikilocytosis (HPP) Familial renal glucosuria (FRG) Glycosylphosphatidylinositol (GPI) deficiency Reticular dysgenesis Brody myopathy Late-onset retinal degeneration (L-ORD) Hereditary neuralgic amyotrophy (HNA) Aplastic anemia (AA) Reynolds syndrome Rhabdoid predisposition syndrome (RPS) Ribose 5-phosphate isomerase (RPI) deficiency Carboxypeptidase N deficiency Baylisascariasis Hymenolepiasis Human granulocytic anaplasmosis Sennetsu neorickettsiosis Human monocytic ehrlichiosis Ehrlichia ewingii infection Vitamin D-dependent rickets Ochrobactrum anthropi infection Atransferrinemia Aminoacylase 1 deficiency Methylobacterium infection Caulobacter infection Ring dermoid of cornea Phenylobacterium infection Brevundimonas infection Taenia saginata infection Human echinococcosis Wolff-Parkinson-White (WPW) syndrome Roussy-Levy syndrome STAR syndrome Alopecia universalis Anterior segment dysgenesis (ASD), including: Anterior segment mesenchymal dysgenesis Schizencephaly Aromatic L-amino acid decarboxylase (AADC) deficiency Scott syndrome Corticosteroid-binding globulin (CBG) deficiency Paracoccus yeei infection Novosphingobium aromaticivorans infection Sphingomonas paucimobilis infection Gluconobacter infection Sea-blue histiocyte disease Acetobacter infection Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Poor drug metabolism (PM) Infantile ascending hereditary spastic paralysis (IAHSP) Stiff skin syndrome (SSS) Congenital diarrhea, including: Congenital chloride diarrhea (DIAR1) Staphylococcus lugdunensis infection Staphylococcus pseudintermedius infection Infantile bilateral striatal necrosis (IBSN) Myiasis Tungiasis Sveinsson chorioretinal atrophy (SCRA) T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) Biotinidase deficiency Thiamine-responsive megaloblastic anemia (TRMA) Familial dementia, including: Familial British dementia (FBD) Cerebral amyloid angiopathy (CAA) Abnormal thyroid hormone metabolism Tietz syndrome Tn syndrome Transaldolase (TALDO) deficiency Transcobalamin II deficiency Asthma with nasal polyps and aspirin intolerance Lysyl hydroxylase 3 (LH3) deficiency Familial tumoral calcinosis (FTC) X-linked chondrodysplasia punctata, including: X-linked recessive chondrodysplasia punctata (CDPX1) VACTERL/VATER association Hypochromic microcytic anemia Dihydrofolate reductase (DHFR) deficiency Fanconi renotubular syndrome (FTS) Hyperalphalipoproteinemia Fatal infantile cardioencephalomyopathy Jensen syndrome Cataract Primary congenital glaucoma (PCG) Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) Coumarin resistance Plasminogen deficiency, including: Ligneous conjunctivitis Trigonocephaly Globozoospermia Deafness, X-linked Hypomagnesemia MECP2-related severe neonatal encephalopathy Familial encephalopathy with neuroserpin inclusion bodies (FENIB) Gallbladder disease Rh-null hemolytic anemia (RHN) Simpson-Golabi-Behmel syndrome (SGBS) Left ventricular noncompaction (LVNC) Primary localized cutaneous amyloidosis (PLCA) P14 deficiency Restrictive cardiomyopathy (RCM) Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) Epithelial basement membrane corneal dystrophy (EBMD) Cowden-like syndrome Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) Ketosis-prone diabetes mellitus (KPD) D-2-hydroxyglutaric aciduria (D-2-HGA) GLI3 morphopathies, including: Greig cephalopolysyndactyly syndrome Inflammatory bowel disease Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) Inclusion body myopathy 3 (IBM3) Adult-onset autosomal dominant leukodystrophy (ADLD) Biotin-responsive basal ganglia disease (BBGD) Syndromic multisystem autoimmune disease Urocanase deficiency Trimethylaminuria (TMAU) Bleeding disorder platelet-type Familial articular chondrocalcinosis Sulfite oxidase deficiency Phelan-McDermid syndrome Combined SAP deficiency Immune thrombocytopenia (ITP) Congenital diaphragmatic hernia (CDH) Saccharopinuria Huntington's disease-like syndrome T+B+Severe combined immunodeficiencies (SCIDs) Immunodeficiency without anhidrotic ectodermal dysplasia Isolated congenital nail clubbing (ICNC) Pyridoxine-dependent epilepsy (PDE) Erythrocyte lactate transporter defect Ethylmalonic encephalopathy (EE) Hereditary gingival fibromatosis (HGF) Focal cortical dysplasia of Taylor Hereditary folate malabsorption (HFM) Isolated follicle-stimulating hormone deficiency (IFSHD) Congenital prothrombin deficiency Juvenile-onset dystonia Foveal hypoplasia GABA-transaminase deficiency Generalized epilepsy and paroxysmal dyskinesia (GEPD) Giant axonal neuropathy Glomerulopathy with fibronectin deposits (GFND) Congenital glucose-galactose malabsorption (GGM) Formiminotransferase deficiency Progressive cardiac conduction defect (PCCD) Hepatic venoocclusive disease with immunodeficiency (VODI) Hydrolethalus syndrome Hypercarotenemia and vitamin A deficiency Familial hyperinsulinemic hypoglycemia (HHF) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Congenital hyperthyroidism, including: Familial gestational hyperthyroidism (HTFG) Familial hypobetalipoproteinemia (FHBL) Hypoparathyroidism with sensorineural deafness and renal dysplasia Hypoplastic left heart syndrome (HLHS) Autosomal dominant keratitis (ADK) Growth delay due to insulin-like growth factor I resistance Interleukin 1 receptor antagonist deficiency (DIRA) X-linked chronic idiopathic intestinal pseudo-obstruction Vitamin B12 deficiency anaemia, including: Hereditary intrinsic factor deficiency (IFD) Iron-refractory iron deficiency anemia (IRIDA) Isobutyryl-CoA dehydrogenase (IBD) deficiency L-2-hydroxyglutaric aciduria (L2HGA) Lathosterolosis Spermatogenic failure Malonyl-CoA decarboxylase deficiency Marinesco-Sjogren syndrome Methylcobalamin deficiency type G (cblG) Microtia hearing impairment and cleft palate (MHICP) Congenital mirror movements (CMM) Mosaic variegated aneuploidy (MVA) syndrome Mulibrey nanism Acute recurrent myoglobinuria Spheroid body myopathy (SBM) Nance-Horan syndrome Narcolepsy Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) Neurodegeneration due to cerebral folate transport deficiency Hereditary neuropathy with liability to pressure palsies (HNPP) Neutral lipid storage disease with myopathy Pulmonary alveolar microlithiasis (PALM) Idiopathic pulmonary fibrosis Primary pulmonary hypertension (PPH) Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Hyperchlorhidrosis isolated (HCHLH) Hypercatabolic hypoproteinemia Hyperglycinuria Global cerebral hypomyelination FRA12A mental retardation Nonsyndromic congenital nail disorder (NDNC) Macrocephaly macrosomia facial dysmorphism syndrome Sarcoidosis, early-onset Multi-minicore disease (MmD) Enteroinvasive Escherichia coli (EIEC) infection Enteroaggregative Escherichia coli (EAEC) infection Escherichia coli meningitis Rat-bite fever Erysipeloid Dermatophytosis Periodontosis Yaws Coccidioidomycosis Pneumonia due to Streptococcus pneumoniae Kyasanur Forest disease Acute gastroenteropathy due to Norwalk agent Lymphocytic choriomeningitis Hand, foot and mouth disease Herpangina Aspergillosis Paracoccidioidomycosis

Choose customization option:

Get the category of disease        Get pathways by disease        Get genes by disease

Get Environmental factors responsible for Disease Get markers of Disease Get list of drug used for treatment of disease