Meta-analysis | SNPeffect 4.0

Disease filter

Please select first the mutation type to filter on. Only variants of this type will be plotted. Below you may finetune your analysis by selecting one or more diseases in the first list and/or specify keywords in the box below. Finetuning Disease type variants will search for variants annotated with that disease. Finetuning Unclassified or Polymorphism type variants will search for variants from proteins annotated with that disease.

Mutation Type:

Please select the type of mutation from the list.

Diseases in database:

Please select one or more diseases from the list. To select multiple items, keep the Ctrl button pressed when selecting items. To unselect an item, press Ctrl and click once more on the item. Select "All" to include all diseases.

Disease keywords:

Please enter disease keywords to filter for.

Choose axis data

Please indicate which feature to plot on which axis.

X-Axis:

Please choose the variant feature to plot on the X-Axis. The X-Axis feature cannot be the same as the Y-Axis feature.

Y-Axis:

Please choose the variant feature to plot on the X-Axis. The Y-Axis feature cannot be the same as the X-Axis feature.

Get help

All
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)
3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
3-ketothiolase deficiency (3KTD)
3-methylglutaconic aciduria type 1 (MGA1)
3-methylglutaconic aciduria type 2 (MGA2)
3-phosphoserine phosphatase deficiency (PSPHD)
3M syndrome type 1 (3M1)
46,XY disorder of sex development (46,XY)
A congenital myasthenic syndrome SCNA4-related (CMS-SCNA4)
Aarskog-Scott syndrome (AAS)
Abetalipoproteinemia (ABL)
Abnormal thyroid hormone metabolism (ATHYHM)
Achalasia-addisonianism-alacrima syndrome (AAAS)
Achondrogenesis type 1B (ACG1B)
Achondrogenesis type 2 (ACG2)
Achondroplasia (ACH)
Achromatopsia type 2 (ACHM2)
Achromatopsia type 3 (ACHM3)
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Acrocallosal syndrome (ACS)
Acrocapitofemoral dysplasia (ACFD)
Acrodermatitis enteropathica zinc-deficiency type (AEZ)
Acrofacial dysostosis Weyers type (WAD)
Acrokeratosis verruciformis (AKV)
Acromesomelic chondrodysplasia Grebe type (AMDG)
Acromesomelic dysplasia Maroteaux type (AMDM)
ACTH deficiency (ACTHD)
ACTH-independent macronodular adrenal hyperplasia (AIMAH)
Acute hepatic porphyria (AHP)
Acute infantile liver failure (AILF)
Acute intermittent porphyria (AIP)
Acute myelogenous leukemia (AML)
Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)
Adenine phosphoribosyltransferase deficiency (APRTD)
Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Adenosine monophosphate deaminase deficiency muscle type (AMPDDM)
Adenylosuccinase deficiency (ADSL deficiency)
Adiponectin deficiency (ADPND)
Adrenal hyperplasia type 2 (AH2)
Adrenal hyperplasia type 3 (AH3)
Adrenal hyperplasia type 4 (AH4)
Adrenal hyperplasia type 5 (AH5)
Adrenal hyperplasia variant type (AHV)
Adrenocortical insufficiency without ovarian defect (ACIWOD)
Adrenoleukodystrophy neonatal (NALD)
Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD)
Adrenoleukodystrophy X-linked (X-ALD)
Adult polyglucosan body disease (APBD)
Adult-onset vitelliform macular dystrophy (AVMD)
Agammaglobulinemia type 6 (AGM6)
Age-related macular degeneration type 1 (ARMD1)
Age-related macular degeneration type 2 (ARMD2)
Age-related macular degeneration type 3 (ARMD3)
Age-related macular degeneration type 6 (ARMD6)
Agenesis of the corpus callosum with abnormal genitalia (ACCAG)
Aggressive periodontititis type 1 (AP1)
AICA-ribosuria
Aicardi-Goutieres syndrome type 1 (AGS1)
Aicardi-Goutieres syndrome type 2 (AGS2)
Aicardi-Goutieres syndrome type 3 (AGS3)
Aicardi-Goutieres syndrome type 4 (AGS4)
Aicardi-Goutieres syndrome type 5 (AGS5)
Alagille syndrome type 1 (ALGS1)
Alagille syndrome type 2 (ALGS2)
Albinism ocular type 1 (OA1)
Albinism oculocutaneous type 1A (OCA1A)
Albinism oculocutaneous type 1B (OCA1B)
Albinism oculocutaneous type 2 (OCA2)
Albinism oculocutaneous type 3 (OCA3)
Albinism oculocutaneous type 4 (OCA4)
Albright hereditary osteodystrophy (AHO)
Alexander disease (ALEXD)
Alkaptonuria (AKU)
Alopecia neurologic defects and endocrinopathy syndrome (ANES)
Alopecia universalis congenita (ALUNC)
Alpha-2-plasmin inhibitor deficiency (APLID)
Alpha-methylacyl-CoA racemase deficiency (AMACRD)
Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATR...
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytome...
Alport syndrome autosomal dominant (APSAD)
Alport syndrome autosomal recessive (APSAR)
Alport syndrome with macrothrombocytopenia (APSM)
Alport syndrome X-linked (APSX)
Alternating hemiplegia of childhood (AHC)
Alzheimer disease mitochondrial (AD-MT)
Alzheimer disease type 1 (AD1)
Alzheimer disease type 3 (AD3)
Alzheimer disease type 4 (AD4)
Amelogenesis imperfecta hypoplastic type 1 (AIH1)
Aminoacylase-1 deficiency (ACY1D)
Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA)
Amyloidosis cerebroarterial Dutch type (AMYLCAD)
Amyloidosis cerebroarterial Iowa type (AMYLCAIW)
Amyloidosis cerebroarterial Italian type (AMYLCAIT)
Amyloidosis type 1 (AMYL1)
Amyloidosis type 5 (AMYL5)
Amyloidosis type 6 (AMYL6)
Amyloidosis type 8 (AMYL8)
Amyloidosis type 9 (AMYL9)
Amyotrophic lateral sclerosis type 1 (ALS1)
Amyotrophic lateral sclerosis type 10 (ALS10)
Amyotrophic lateral sclerosis type 11 (ALS11)
Amyotrophic lateral sclerosis type 12 (ALS12)
Amyotrophic lateral sclerosis type 4 (ALS4)
Amyotrophic lateral sclerosis type 6 (ALS6)
Amyotrophic lateral sclerosis type 8 (ALS8)
Amyotrophic lateral sclerosis type 9 (ALS9)
Androgen insensitivity syndrome (AIS)
Androgen insensitivity syndrome partial (PAIS)
Anemia sideroblastic acquired idiopathic (AISA)
Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA)
Anemia sideroblastic X-linked (XLSA)
Aniridia (AN)
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)
Anonychia congenita (ANONC)
Anterior segment mesenchymal dysgenesis (ASMD)
Antithrombin III deficiency (AT3D)
Antley-Bixler syndrome (ABS)
Aortic aneurysm abdominal (AAA)
Aortic aneurysm familial thoracic type 3 (AAT3)
Aortic aneurysm familial thoracic type 4 (AAT4)
Aortic aneurysm familial thoracic type 5 (AAT5)
Aortic aneurysm familial thoracic type 6 (AAT6)
Apert syndrome (APRS)
Apparent mineralocorticoid excess (AME)
Argininemia (ARGIN)
Arginosuccinicaciduria (ARGINSA)
Aromatase deficiency (AROD)
Aromatic L-amino-acid decarboxylase deficiency (AADCD)
Arterial tortuosity syndrome (ATS)
Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1)
ARTS syndrome (ARTS)
Aspartate-glutamate carrier 1 deficiency (AGC1D)
Aspartylglucosaminuria (AGU)
Asphyxiating thoracic dystrophy 2 (ATD2)
Asphyxiating thoracic dystrophy type 3 (ATD3)
Ataxia telangiectasia (AT)
Ataxia telangiectasia-like disorder (ATLD)
Ataxia with isolated vitamin E deficiency (AVED)
Ataxia-oculomotor apraxia syndrome (AOA)
Atelosteogenesis type 1 (AO1)
Atelosteogenesis type 2 (AO2)
Atelosteogenesis type 3 (AO3)
Atransferrinemia (ATRAF)
Atrial fibrillation familial type 3 (ATFB3)
Atrial fibrillation familial type 4 (ATFB4)
Atrial septal defect type 2 (ASD2)
Atrial septal defect type 3 (ASD3)
Atrial septal defect type 4 (ASD4)
Atrial septal defect type 5 (ASD5)
Atrial septal defect type 6 (ASD6)
Atrial septal defect with atrioventricular conduction defects (ASD-AVCD)
Attention deficit-hyperactivity disorder type 7 (ADHD7)
Atypical Gaucher disease (AGD)
Autism X-linked type 1 (AUTSX1)
Autoimmune disease type 6 (AIS6)
Autoimmune lymphoproliferative syndrome type 1A (ALPS1A)
Autoimmune lymphoproliferative syndrome type 2A (ALPS2A)
Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED)
Autosomal dominant coronary artery disease type 2 (ADCAD2)
Autosomal dominant distal renal tubular acidosis (AD-dRTA)
Autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD)
Autosomal dominant hypophosphataemic rickets (ADHR)
Autosomal dominant Larsen syndrome (LRS1)
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI)
Autosomal dominant oculodentodigital dysplasia (ODDD)
Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1)
Autosomal recessive distal renal tubular acidosis (AR-dRTA)
Autosomal recessive hypercholesterolemia (ARH)
Autosomal recessive myotonia congenita (MCR)
Autosomal recessive neurohypophyseal diabetes insipidus (ARNDI)
Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED)
Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2)
Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1)
Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-p...
Avellino corneal dystrophy (ACD)
Axenfeld-Rieger syndrome type 1 (RIEG1)
Axenfeld-Rieger syndrome type 3 (RIEG3)
B-cell chronic lymphocytic leukemia (BCLL)
Baller-Gerold syndrome (BGS)
Bamforth-Lazarus syndrome (BLS)
Band-like calcification with simplified gyration and polymicrogyria (BLCPMG)
Bannayan-Zonana syndrome (BZS)
Bardet-Biedl syndrome type 1 (BBS1)
Bardet-Biedl syndrome type 10 (BBS10)
Bardet-Biedl syndrome type 11 (BBS11)
Bardet-Biedl syndrome type 12 (BBS12)
Bardet-Biedl syndrome type 13 (BBS13)
Bardet-Biedl syndrome type 2 (BBS2)
Bardet-Biedl syndrome type 3 (BBS3)
Bardet-Biedl syndrome type 4 (BBS4)
Bardet-Biedl syndrome type 5 (BBS5)
Bardet-Biedl syndrome type 6 (BBS6)
Bardet-Biedl syndrome type 7 (BBS7)
Bardet-Biedl syndrome type 9 (BBS9)
Bare lymphocyte syndrome type 2 (BLS2)
Barraquer-Simons syndrome (BaSiS)
Bart-Pumphrey syndrome (BPS)
Bartter syndrome type 1 (BS1)
Bartter syndrome type 2 (BS2)
Bartter syndrome type 3 (BS3)
Bartter syndrome type 4A (BS4A)
Bartter syndrome type 4B (BS4B)
Basal cell nevus syndrome (BCNS)
Beare-Stevenson cutis gyrata syndrome (BSCGS)
Becker muscular dystrophy (BMD)
Benign familial hematuria (BFH)
Benign familial infantile seizures type 3 (BFIS3)
Benign hereditary chorea (BHC)
Benign mediterranean macrothrombocytopenia (BMM)
Benign neonatal epilepsy type 1 (EBN1)
Benign neonatal epilepsy type 2 (EBN2)
Benign recurrent intrahepatic cholestasis type 1 (BRIC1)
Benign recurrent intrahepatic cholestasis type 2 (BRIC2)
Bernard-Soulier syndrome (BSS)
Bestrophinopathy autosomal recessive (ARB)
Beta-ureidopropionase deficiency (BUP deficiency)
Bethlem myopathy (BM)
BH4-deficient hyperphenylalaninemia type A (HPABH4A)
BH4-deficient hyperphenylalaninemia type C (HPABH4C)
BH4-deficient hyperphenylalaninemia type D (HPABH4D)
Bietti crystalline corneoretinal dystrophy (BCD)
Bifid nose with or without anorectal and renal anomalies (BNAR)
Bilateral frontoparietal polymicrogyria (BFPP)
Bilateral optic nerve hypoplasia (BONH)
Bilateral perisylvian polymicrogyria (BPP)
Biotin-responsive basal ganglia disease (BBGD)
Biotinidase deficiency (BTD deficiency)
Birbeck granule deficiency (BIRGD)
Birk-Barel syndrome (BIBAS)
Bjoernstad syndrome (BJS)
Bladder cancer (BLC)
Blau syndrome (BS)
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Bloom syndrome (BLM)
Blue cone monochromacy (BCM)
Boerjeson-Forssman-Lehmann syndrome (BFLS)
Boomerang dysplasia (BOOMD)
Bothnia retinal dystrophy (BRD)
Bowen-Conradi syndrome (BWCNS)
Brachydactyly type A1 (BDA1)
Brachydactyly type A2 (BDA2)
Brachydactyly type B2 (BDB2)
Brachydactyly type C (BDC)
Brachydactyly type D (BDD)
Brachydactyly type E (BDE)
Brachydactyly type E2 (BDE2)
Brachyolmia type 3 (BRAC3)
Brain small vessel disease with hemorrhage (BSVDH)
Branchiooculofacial syndrome (BOFS)
Branchiootic syndrome type 1 (BOS1)
Branchiootic syndrome type 3 (BOS3)
Branchiootorenal syndrome (BOR)
Branchiootorenal syndrome type 1 (BOR1)
Branchiootorenal syndrome type 2 (BOR2)
Breast cancer (BC)
Breast-ovarian cancer familial type 1 (BROVCA1)
Breast-ovarian cancer familial type 3 (BROVCA3)
Brody myopathy (BRM)
Bronchiectasis with or without elevated sweat chloride type 1 (BESC1)
Bronchiectasis with or without elevated sweat chloride type 2 (BESC2)
Brooke-Spiegler syndrome (BRSS)
Brown-Vialetto-Van Laere syndrome (BVVLS)
Bruck syndrome type 2 (BRKS2)
Brugada syndrome type 1 (BRS1)
Brugada syndrome type 2 (BRS2)
Brugada syndrome type 3 (BRS3)
Brugada syndrome type 4 (BRS4)
Brugada syndrome type 6 (BRS6)
Brugada syndrome type 7 (BRS7)
Bullous congenital ichthyosiform erythroderma (BCIE)
Butyrylcholinesterase deficiency (BChE deficiency)
C-like syndrome (CLSYN)
Caffey disease (CAFFD)
Campomelic dysplasia (CMD1)
Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome)
Camurati-Engelmann disease (CE)
Canavan disease (CAND)
Capillary malformation-arteriovenous malformation (CMAVM)
Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Carboxypeptidase N deficiency (CPN deficiency)
Cardiac valvular dysplasia X-linked (CVDX)
Cardiofaciocutaneous syndrome (CFC syndrome)
Cardiomyopathy dilated type 1A (CMD1A)
Cardiomyopathy dilated type 1AA (CMD1AA)
Cardiomyopathy dilated type 1C (CMD1C)
Cardiomyopathy dilated type 1CC (CMD1CC)
Cardiomyopathy dilated type 1D (CMD1D)
Cardiomyopathy dilated type 1DD (CMD1DD)
Cardiomyopathy dilated type 1E (CMD1E)
Cardiomyopathy dilated type 1EE (CMD1EE)
Cardiomyopathy dilated type 1FF (CMD1FF)
Cardiomyopathy dilated type 1GG (CMD1GG)
Cardiomyopathy dilated type 1I (CMD1I)
Cardiomyopathy dilated type 1L (CMD1L)
Cardiomyopathy dilated type 1M (CMD1M)
Cardiomyopathy dilated type 1N (CMD1N)
Cardiomyopathy dilated type 1O (CMD1O)
Cardiomyopathy dilated type 1P (CMD1P)
Cardiomyopathy dilated type 1R (CMD1R)
Cardiomyopathy dilated type 1S (CMD1S)
Cardiomyopathy dilated type 1T (CMD1T)
Cardiomyopathy dilated type 1U (CMD1U)
Cardiomyopathy dilated type 1V (CMD1V)
Cardiomyopathy dilated type 1W (CMD1W)
Cardiomyopathy dilated type 1X (CMD1X)
Cardiomyopathy dilated type 1Y (CMD1Y)
Cardiomyopathy dilated type 1Z (CMD1Z)
Cardiomyopathy dilated type 2A (CMD2A)
Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH)
Cardiomyopathy dilated X-linked type 3B (CMD3B)
Cardiomyopathy familial hypertrophic (CMH)
Cardiomyopathy familial hypertrophic type 1 (CMH1)
Cardiomyopathy familial hypertrophic type 10 (CMH10)
Cardiomyopathy familial hypertrophic type 11 (CMH11)
Cardiomyopathy familial hypertrophic type 12 (CMH12)
Cardiomyopathy familial hypertrophic type 13 (CMH13)
Cardiomyopathy familial hypertrophic type 14 (CMH14)
Cardiomyopathy familial hypertrophic type 15 (CMH15)
Cardiomyopathy familial hypertrophic type 2 (CMH2)
Cardiomyopathy familial hypertrophic type 3 (CMH3)
Cardiomyopathy familial hypertrophic type 4 (CMH4)
Cardiomyopathy familial hypertrophic type 7 (CMH7)
Cardiomyopathy familial hypertrophic type 8 (CMH8)
Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 1...
Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 2...
Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH...
Cardiomyopathy familial restrictive type 1 (RCM1)
Cardiomyopathy infantile histiocytoid (CMIH)
Carney complex type 1 (CNC1)
Carney complex variant (CACOV)
Carnitine palmitoyltransferase 1A deficiency (CPT1AD)
Carnitine palmitoyltransferase 2 deficiency (CPT2D)
Carnitine-acylcarnitine translocase deficiency (CACT deficiency)
Carpal tunnel syndrome type 1 (CTS1)
Carpenter syndrome (CARPS)
Caspase-8 deficiency (CASP8D)
Cataract autosomal dominant (ADC)
Cataract autosomal dominant BFSP2-related (ADC-BFSP2)
Cataract congenital cerulean type 3 (CCA3)
Cataract congenital cerulean type 4 (CCA4)
Cataract congenital non-nuclear polymorphic autosomal dominant (CCP)
Cataract congenital nuclear autosomal recessive type 2 (CATCN2)
Cataract Coppock-like (CCL)
Cataract cortical age-related type 2 (ARCC2)
Cataract crystalline aculeiform (CACA)
Cataract Marner type (CAM)
Cataract posterior polar type 1 (CTPP1)
Cataract posterior polar type 3 (CTPP3)
Cataract pulverulent juvenile-onset MAF-related (CAPJOM)
Cataract zonular HSF4-related (CZ-HSF4)
Cataract zonular pulverulent cataract type 3 (CZP3)
Cataract zonular pulverulent type 1 (CZP1)
Cataract zonular type 2 (CZ2)
Cataract-microcornea syndrome (CAMIS)
Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1)
Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2)
Cenani-Lenz syndactyly syndrome (CLSS)
Central core disease of muscle (CCD)
Central precocious puberty (CEPREPU)
Centronuclear myopathy autosomal dominant (ADCNM)
Centronuclear myopathy autosomal recessive (ARCNM)
Centronuclear myopathy X-linked (XCNM)
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMAR...
Cerebellar ataxia, cayman type (ATCAY)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoe...
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leuko...
Cerebral cavernous malformations type 1 (CCM1)
Cerebral cavernous malformations type 2 (CCM2)
Cerebral palsy spastic quadriplegic type 1 (CPSQ1)
Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1)
Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2)
Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4)
Cerebrotendinous xanthomatosis (CTX)
Cervical cancer (CERCA)
Chanarin-Dorfman syndrome (CDS)
Char syndrome (CHAR)
Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV)...
Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB)
Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC)
Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID)
Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB)
Charcot-Marie-Tooth disease type 1A (CMT1A)
Charcot-Marie-Tooth disease type 1B (CMT1B)
Charcot-Marie-Tooth disease type 1C (CMT1C)
Charcot-Marie-Tooth disease type 1D (CMT1D)
Charcot-Marie-Tooth disease type 1E (CMT1E)
Charcot-Marie-Tooth disease type 1F (CMT1F)
Charcot-Marie-Tooth disease type 2A1 (CMT2A1)
Charcot-Marie-Tooth disease type 2A2 (CMT2A2)
Charcot-Marie-Tooth disease type 2B (CMT2B)
Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
Charcot-Marie-Tooth disease type 2B2 (CMT2B2)
Charcot-Marie-Tooth disease type 2C (CMT2C)
Charcot-Marie-Tooth disease type 2D (CMT2D)
Charcot-Marie-Tooth disease type 2E (CMT2E)
Charcot-Marie-Tooth disease type 2F (CMT2F)
Charcot-Marie-Tooth disease type 2I (CMT2I)
Charcot-Marie-Tooth disease type 2J (CMT2J)
Charcot-Marie-Tooth disease type 2L (CMT2L)
Charcot-Marie-Tooth disease type 2N (CMT2N)
Charcot-Marie-Tooth disease type 4A (CMT4A)
Charcot-Marie-Tooth disease type 4B1 (CMT4B1)
Charcot-Marie-Tooth disease type 4C (CMT4C)
Charcot-Marie-Tooth disease type 4H (CMT4H)
Charcot-Marie-Tooth disease type 4J (CMT4J)
Charcot-Marie-Tooth disease type 6 (CMT6)
Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5)
Charcot-Marie-Tooth disease X-linked type 1 (CMTX1)
CHARGE syndrome (CHARGES)
Chediak-Higashi syndrome (CHS)
Cherubism (CRBM)
Chilblain lupus (CHBL)
Childhood absence epilepsy type 2 (ECA2)
Childhood absence epilepsy type 3 (ECA3)
Childhood absence epilepsy type 5 (ECA5)
Childhood cancer retinoblastoma (RB)
Cholesteryl ester storage disease (CESD)
Cholesteryl ester transfer protein deficiency (CETP deficiency)
Chondrocalcinosis 2 (CCAL2)
Chondrodysplasia Blomstrand type (BOCD)
Chondrodysplasia punctata X-linked dominant type 2 (CDPX2)
Chondrodysplasia punctata X-linked recessive type 1 (CDPX1)
Chondrosarcoma (CHDSA)
Chorea-acanthocytosis (CHAC)
Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD)
Choroidal dystrophy central areolar type 2 (CACD2)
Choroideremia (CHM)
Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCG...
Chronic granulomatous disease autosomal recessive cytochrome-b-positive type ...
Chronic granulomatous disease autosomal recessive cytochrome-b-positive type ...
Chronic granulomatous disease X-linked (XCGD)
Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Chronic non-spherocytic hemolytic anemia (CNSHA)
Chronic obstructive pulmonary disease (COPD)
Chylomicron retention disease (CMRD)
Cirrhosis (CIRRH)
Citrullinemia type 1 (CTLN1)
Cleidocranial dysplasia (CLCD)
COACH syndrome (COACHS)
Cockayne syndrome type A (CSA)
Cockayne syndrome type B (CSB)
Coenzyme Q10 deficiency
Coenzyme Q10 deficiency (CoQ10 deficiency)
Coffin-Lowry syndrome (CLS)
Cohen syndrome (COH1)
Cold-induced sweating syndrome type 1 (CISS1)
Cold-induced sweating syndrome type 2 (CISS2)
Coloboma ocular (COLO)
Colon cancer
Colorectal adenomatous polyposis autosomal recessive (CAPAR)
Colorectal cancer (CRC)
Colorectal cancer type 1 (CRCS1)
Combined cellular and humoral immune defects with granulomas (CHIDG)
Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1)
Combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2)
Combined oxidative phosphorylation deficiency type 1 (COXPD1)
Combined oxidative phosphorylation deficiency type 4 (COXPD4)
Combined oxidative phosphorylation deficiency type 5 (COXPD5)
Complement component 2 deficiency (C2D)
Complement component 3 deficiency (C3D)
Complement component 7 deficiency (C7D)
Complement component 9 deficiency (C9D)
Complement component C1q deficiency (C1QD)
Complement factor D deficiency (CFD deficiency)
Complement factor H deficiency (CFH deficiency)
Complement factor I deficiency (CFI deficiency)
Complete pure gonadal dysgenesis 46,XY type (GDXYM)
Cone dystrophy retinal type 3B (RCD3B)
Cone dystrophy type 3 (COD3)
Cone dystrophy type 4 (COD4)
Cone-rod dystrophy type 10 (CORD10)
Cone-rod dystrophy type 11 (CORD11)
Cone-rod dystrophy type 12 (CORD12)
Cone-rod dystrophy type 13 (CORD13)
Cone-rod dystrophy type 2 (CORD2)
Cone-rod dystrophy type 3 (CORD3)
Cone-rod dystrophy type 5 (CORD5)
Cone-rod dystrophy type 6 (CORD6)
Cone-rod dystrophy type 7 (CORD7)
Congenital adrenal insufficiency (CAI)
Congenital afibrinogenemia (CAFBN)
Congenital bilateral absence of the vas deferens (CBAVD)
Congenital bile acid synthesis defect type 1 (CBAS1)
Congenital bile acid synthesis defect type 2 (CBAS2)
Congenital bile acid synthesis defect type 4 (CBAS4)
Congenital central hypoventilation syndrome (CCHS)
Congenital clubfoot (CCF)
Congenital contractural arachnodactyly (CCA)
Congenital disorder of glycosylation type 1A (CDG1A)
Congenital disorder of glycosylation type 1B (CDG1B)
Congenital disorder of glycosylation type 1C (CDG1C)
Congenital disorder of glycosylation type 1D (CDG1D)
Congenital disorder of glycosylation type 1E (CDG1E)
Congenital disorder of glycosylation type 1F (CDG1F)
Congenital disorder of glycosylation type 1G (CDG1G)
Congenital disorder of glycosylation type 1H (CDG1H)
Congenital disorder of glycosylation type 1J (CDG1J)
Congenital disorder of glycosylation type 1K (CDG1K)
Congenital disorder of glycosylation type 1L (CDG1L)
Congenital disorder of glycosylation type 1M (CDG1M)
Congenital disorder of glycosylation type 1N (CDG1N)
Congenital disorder of glycosylation type 1O (CDG1O)
Congenital disorder of glycosylation type 1P (CDG1P)
Congenital disorder of glycosylation type 2A (CDG2A)
Congenital disorder of glycosylation type 2C (CDG2C)
Congenital disorder of glycosylation type 2J (CDG2J)
Congenital dyserythropoietic anemia type 1 (CDA1)
Congenital dyserythropoietic anemia type 2 (CDA2)
Congenital dyserythropoietic anemia type 4 (CDA4)
Congenital erythropoietic porphyria (CEP)
Congenital fibrosis of extraocular muscles type 1 (CFEOM1)
Congenital fibrosis of extraocular muscles type 2 (CFEOM2)
Congenital fibrosis of extraocular muscles type 3A (CFEOM3A)
Congenital generalized lipodystrophy type 1 (CGL1)
Congenital generalized lipodystrophy type 2 (CGL2)
Congenital glucose/galactose malabsorption (GGM)
Congenital heart disease non-syndromic type 2 (CHTD2)
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CH...
Congenital hypomyelination neuropathy (CHN)
Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1)
Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A)
Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3)
Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4)
Congenital hypothyroidism due to dyshormonogenesis type 6 (CHDH6)
Congenital hypothyroidism non-goitrous type 1 (CHNG1)
Congenital hypothyroidism non-goitrous type 2 (CHNG2)
Congenital hypothyroidism non-goitrous type 5 (CHNG5)
Congenital indifference to pain autosomal recessive (CIPAR)
Congenital insensitivity to pain with anhidrosis (CIPA)
Congenital lactase deficiency (COLACD)
Congenital lipoid adrenal hyperplasia (CLAH)
Congenital myasthenic syndrome Engel type (CMSE)
Congenital myasthenic syndrome fast-channel type (FCCMS)
Congenital myasthenic syndrome slow-channel type (SCCMS)
Congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDC...
Congenital myasthenic syndrome with episodic apnea (CMSEA)
Congenital myopathy with excess of muscle spindles (CMEMS)
Congenital myopathy with excess of thin myofilaments (CM)
Congenital myopathy with fiber-type disproportion (CFTD)
Congenital nephrotic syndrome (CONPHS)
Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1)
Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2)
Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3)
Congenital stationary night blindness Oguchi type 2 (CSNBO2)
Congenital stationary night blindness type 1A (CSNB1A)
Congenital stationary night blindness type 1B (CSNB1B)
Congenital stationary night blindness type 1C (CSNB1C)
Congenital stationary night blindness type 2A (CSNB2A)
Congenital stationary night blindness type 2B (CSNB2B)
Congenital sucrase-isomaltase deficiency (CSID)
Congenital systemic glutamine deficiency (CSGD)
Congenital variant of Rett syndrome (RTTCV)
Congenital vertical talus (CVT)
Conotruncal heart malformations (CTHM)
Corneal dystrophy and perceptive deafness (CDPD)
Corneal dystrophy Fuchs endothelial type 1 (FECD1)
Corneal dystrophy Fuchs endothelial type 4 (FECD4)
Corneal dystrophy Fuchs endothelial type 6 (FECD6)
Corneal dystrophy Groenouw type 1 (CDGG1)
Corneal dystrophy lattice type 1 (CDL1)
Corneal dystrophy Thiel-Behnke type (CDTB)
Corneal endothelial dystrophy type 2 (CHED2)
Corneal fleck dystrophy (CFD)
Cornelia de Lange syndrome type 1 (CDLS1)
Cornelia de Lange syndrome type 2 (CDLS2)
Corticobasal degeneration (CBD)
Corticosteroid-binding globulin deficiency (CBG deficiency)
Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency)
Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency)
Costello syndrome (COSTS)
Coumarin resistance (CMRES)
Cowden disease (CD)
Cranioectodermal dysplasia type 1 (CED1)
Cranioectodermal dysplasia type 2 (CED2)
Craniofacial-deafness-hand syndrome (CDHS)
Craniofrontonasal syndrome (CFNS)
Craniolenticulosutural dysplasia (CLSD)
Craniometaphyseal dysplasia Jackson type (CMDJ)
Cranioosteoarthropathy (COA)
Craniosynostosis type 1 (CRS1)
Craniosynostosis type 2 (CRS2)
Creutzfeldt-Jakob disease (CJD)
Crigler-Najjar syndrome type 1 (CN1)
Crigler-Najjar syndrome type 2 (CN2)
Crisponi syndrome (CRISPS)
Crouzon syndrome (CS)
Crouzon syndrome with acanthosis nigricans (CAN)
Cryptorchidism
Cryptorchidism (CRYPTO)
Crystalline corneal dystrophy of Schnyder (SCCD)
Currarino syndrome (CURRAS)
Cutaneous malignant melanoma type 2 (CMM2)
Cutaneous malignant melanoma type 3 (CMM3)
Cutis laxa autosomal recessive type 1 (ARCL1)
Cutis laxa autosomal recessive type 2B (ARCL2B)
Cyclic haematopoiesis (CH)
Cystathionine beta-synthase deficiency (CBSD)
Cystathioninuria (CSTNU)
Cystic fibrosis (CF)
Cystinosis adult non-nephropathic type (CTNSANN)
Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN)
Cystinosis nephropathic type (CTNS)
Cystinuria type 1 (CSNU1)
D-2-hydroxyglutaric aciduria type 1 (D2HGA1)
D-bifunctional protein deficiency (DBPD)
Danon disease (DAND)
Darier disease (DD)
Deafness autosomal dominant type 11 (DFNA11)
Deafness autosomal dominant type 12 (DFNA12)
Deafness autosomal dominant type 13 (DFNA13)
Deafness autosomal dominant type 15 (DFNA15)
Deafness autosomal dominant type 17 (DFNA17)
Deafness autosomal dominant type 20 (DFNA20)
Deafness autosomal dominant type 22 (DFNA22)
Deafness autosomal dominant type 25 (DFNA25)
Deafness autosomal dominant type 2A (DFNA2A)
Deafness autosomal dominant type 2B (DFNA2B)
Deafness autosomal dominant type 36 (DFNA36)
Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/...
Deafness autosomal dominant type 3A (DFNA3A)
Deafness autosomal dominant type 3B (DFNA3B)
Deafness autosomal dominant type 4 (DFNA4)
Deafness autosomal dominant type 48 (DFNA48)
Deafness autosomal dominant type 6 (DFNA6)
Deafness autosomal dominant type 9 (DFNA9)
Deafness autosomal dominant without vestibular involvement (DFNAWVI)
Deafness autosomal recessive type 12 (DFNB12)
Deafness autosomal recessive type 1A (DFNB1A)
Deafness autosomal recessive type 2 (DFNB2)
Deafness autosomal recessive type 23 (DFNB23)
Deafness autosomal recessive type 24 (DFNB24)
Deafness autosomal recessive type 25 (DFNB25)
Deafness autosomal recessive type 28 (DFNB28)
Deafness autosomal recessive type 29 (DFNB29)
Deafness autosomal recessive type 3 (DFNB3)
Deafness autosomal recessive type 35 (DFNB35)
Deafness autosomal recessive type 37 (DFNB37)
Deafness autosomal recessive type 4 (DFNB4)
Deafness autosomal recessive type 53 (DFNB53)
Deafness autosomal recessive type 59 (DFNB59)
Deafness autosomal recessive type 6 (DFNB6)
Deafness autosomal recessive type 63 (DFNB63)
Deafness autosomal recessive type 67 (DFNB67)
Deafness autosomal recessive type 7 (DFNB7)
Deafness autosomal recessive type 74 (DFNB74)
Deafness autosomal recessive type 84 (DFNB84)
Deafness autosomal recessive type 9 (DFNB9)
Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM)
Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)
Deafness X-linked type 1 (DFNX1)
Deafness X-linked type 2 (DFNX2)
Dejerine-Sottas syndrome (DSS)
Dementia Lewy body (DLB)
Dent disease type 2 (DD2)
Dentin dysplasia type 2 (DTDP2)
Dentinogenesis imperfecta Shields type 3 (DGI3)
Denys-Drash syndrome (DDS)
Desbuquois dysplasia (DBQD)
Desmosterolosis (DESMOS)
Diabetes insipidus nephrogenic autosomal (ANDI)
Diabetes insipidus nephrogenic X-linked (XNDI)
Diabetes mellitus insulin-dependent type 2 (IDDM2)
Diabetes mellitus insulin-dependent type 20 (IDDM20)
Diabetes mellitus permanent neonatal (PNDM)
Diamond-Blackfan anemia type 1 (DBA1)
Diamond-Blackfan anemia type 10 (DBA10)
Diamond-Blackfan anemia type 5 (DBA5)
Diamond-Blackfan anemia type 6 (DBA6)
Diamond-Blackfan anemia type 7 (DBA7)
Diarrhea type 1 (DIAR1)
Diarrhea type 2 (DIAR2)
Diarrhea type 3 (DIAR3)
Diarrhea type 4 (DIAR4)
Diarrhea type 5 (DIAR5)
DiGeorge syndrome (DGS)
Dihydropyrimidinase deficiency (DHPD)
Disseminated superficial actinic porokeratosis type 1 (DSAP1)
Distal arthrogryposis type 1 (DA1)
Distal arthrogryposis type 2A (DA2A)
Distal arthrogryposis type 2B (DA2B)
Distal hereditary motor neuronopathy type 2A (HMN2A)
Distal hereditary motor neuronopathy type 2B (HMN2B)
Distal hereditary motor neuronopathy type 2C (HMN2C)
Distal hereditary motor neuronopathy type 6 (HMN6)
Distal hereditary motor neuronopathy type 7B (HMN7B)
Distal renal tubular acidosis with deafness (dRTA-D)
Distal renal tubular acidosis with preserved hearing (RTADR)
Distal spinal muscular atrophy autosomal recessive type 4 (DSMA4)
Distal spinal muscular atrophy congenital non-progressive (DSMAC)
Distal spinal muscular atrophy X-linked type 3 (DSMAX3)
Distal spinal muscular neuropathy type 5 (HMN5)
DMGDH deficiency (DMGDHD)
Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA)
Dominantly inherited venous malformations (VMCM)
Donnai-Barrow syndrome (DBS)
Dopamine beta-hydroxylase deficiency (DBH deficiency)
Doyne honeycomb retinal dystrophy (DHRD)
Du Pan syndrome (DPS)
Duane retraction syndrome type 2 (DURS2)
Duane-radial ray syndrome (DRRS)
Dubin-Johnson syndrome (DJS)
Duchenne muscular dystrophy (DMD)
Dursun syndrome (DURSS)
Dyggve-Melchior-Clausen syndrome (DMC)
Dyschromatosis symmetrical hereditaria (DSH)
Dyskeratosis congenita autosomal dominant (ADDKC)
Dyskeratosis congenita autosomal recessive (ARDKC)
Dyskeratosis congenita X-linked recessive (XDKC)
Dystonia DOPA-responsive autosomal recessive (ARDRD)
Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD)
Dystonia juvenile-onset (DYTJ)
Dystonia type 11 (DYT11)
Dystonia type 12 (DYT12)
Dystonia type 16 (DYT16)
Dystonia type 18 (DYT18)
Dystonia type 5 (DYT5)
Dystonia type 6 (DYT6)
Dystonia-parkinsonism infantile (DYTPRI)
Dystonia-parkinsonism Paisan-Ruiz type (DYTPR)
Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP)
Ectodermal dysplasia anhidrotic (EDA)
Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID)
Ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal domina...
Ectodermal dysplasia pure hair-nail type (EDPHN)
Ectodermal dysplasia Rapp-Hodgkin type (EDRH)
Ectodermal dysplasia type 1 (ED1)
Ectodermal dysplasia type 2 (ED2)
Ectodermal dysplasia type 3 (ED3)
Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM)
Ectodermal dysplasia-syndactyly syndrome type 1 (EDSS1)
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3)
Ehlers-Danlos syndrome musculocontractural type (EDSMC)
Ehlers-Danlos syndrome progeroid type (EDSP)
Ehlers-Danlos syndrome type 1 (EDS1)
Ehlers-Danlos syndrome type 2 (EDS2)
Ehlers-Danlos syndrome type 3 (EDS3)
Ehlers-Danlos syndrome type 4 (EDS4)
Ehlers-Danlos syndrome type 6 (EDS6)
Elliptocytosis type 2 (EL2)
Elliptocytosis type 3 (EL3)
Ellis-van Creveld syndrome (EVC)
Emery-Dreifuss muscular dystrophy type 1 (EDMD1)
Emery-Dreifuss muscular dystrophy type 2 (EDMD2)
Emery-Dreifuss muscular dystrophy type 4 (EDMD4)
Emery-Dreifuss muscular dystrophy type 5 (EDMD5)
Encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2)
Enchondromatosis multiple (ENCHOM)
Endocrine-cerebroosteodysplasia (ECO)
Endometrial cancer
Endosteal hyperostosis Worth type (WENHY)
Enhanced S cone syndrome (ESCS)
Eosinophil peroxidase deficiency (EPD)
Epidermolysis bullosa dystrophica (DEB)
Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB)
Epidermolysis bullosa dystrophica Pasini type (P-DEB)
Epidermolysis bullosa dystrophica pretibial type (PR-DEB)
Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC)
Epidermolysis bullosa junctional Herlitz type (H-JEB)
Epidermolysis bullosa letalis with pyloric atresia (EB-PA)
Epidermolysis bullosa pruriginosa (EBP)
Epidermolysis bullosa simplex autosomal recessive (AREBS)
Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS)
Epidermolysis bullosa simplex Koebner type (K-EBS)
Epidermolysis bullosa simplex Ogna type (O-EBS)
Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS)
Epidermolysis bullosa simplex with mottled pigmentation (MP-EBS)
Epileptic encephalopathy early infantile type 1 (EIEE1)
Epileptic encephalopathy early infantile type 2 (EIEE2)
Epileptic encephalopathy early infantile type 3 (EIEE3)
Epileptic encephalopathy early infantile type 4 (EIEE4)
Epileptic encephalopathy early infantile type 9 (EIEE9)
Epimerase-deficiency galactosemia (EDG)
Episodic ataxia type 1 (EA1)
Episodic ataxia type 2 (EA2)
Episodic ataxia type 6 (EA6)
Epithelial basement membrane corneal dystrophy (EBMD)
Epstein syndrome (EPS)
Erythrocytosis familial type 1 (ECYT1)
Erythrocytosis familial type 2 (ECYT2)
Erythrocytosis familial type 3 (ECYT3)
Erythrocytosis familial type 4 (ECYT4)
Erythrokeratodermia variabilis (EKV)
Erythropoietic protoporphyria (EPP)
Esophageal cancer (ESCR)
Ethylmalonic encephalopathy (EE)
Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hype...
Fabry disease (FD)
Factor II deficiency (FA2D)
Factor V and factor VIII combined deficiency type 2 (F5F8D2)
Factor V deficiency (FA5D)
Factor VII deficiency (FA7D)
Factor XI deficiency (FA11D)
Factor XII deficiency (FA12D)
Factor XIII subunit A deficiency (FA13AD)
Factor XIII subunit B deficiency (FA13BD)
Familial adenomatous polyposis (FAP)
Familial advanced sleep-phase syndrome (FASPS)
Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10)
Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2)
Familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5)
Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8)
Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9)
Familial atrial standstill (FAS)
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMM...
Familial CD8 deficiency (CD8 deficiency)
Familial cold autoinflammatory syndrome type 1 (FCAS1)
Familial encephalopathy with neuroserpin inclusion bodies (FEN1B)
Familial febrile convulsions type 3A (FEB3A)
Familial febrile convulsions type 3B (FEB3B)
Familial febrile convulsions type 8 (FEB8)
Familial hibernian fever (FHF)
Familial horizontal gaze palsy with progressive scoliosis (HGPPS)
Familial hypercholanemia (FHCA)
Familial hypercholesterolemia (FH)
Familial hypercholesterolemia 3 (FH3)
Familial hyperinsulinemic hypoglycemia type 1 (HHF1)
Familial hyperinsulinemic hypoglycemia type 2 (HHF2)
Familial hyperinsulinemic hypoglycemia type 3 (HHF3)
Familial hyperinsulinemic hypoglycemia type 4 (HHF4)
Familial hyperinsulinemic hypoglycemia type 5 (HHF5)
Familial hyperinsulinemic hypoglycemia type 6 (HHF6)
Familial hyperproinsulinemia (FHPRI)
Familial hypobetalipoproteinemia (FHBL)
Familial hypocalciuric hypercalcemia type 1 (FHH)
Familial infantile myoclonic epilepsy (FIME)
Familial isolated hyperparathyroidism (FIHP)
Familial isolated hypoparathyroidism (FIH)
Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1)
Familial juvenile hyperuricemic nephropathy type 2 (HNFJ2)
Familial ligand-defective apolipoprotein B-100 (FDB)
Familial limb-girdle myasthenia autosomal recessive (LGM)
Familial male precocious puberty (FMPP)
Familial Mediterranean fever autosomal dominant (ADFMF)
Familial Mediterranean fever autosomal recessive (ARFMF)
Familial multiple endocrine neoplasia type I (MEN1)
Familial non-Hodgkin lymphoma (NHL)
Familial partial lipodystrophy type 2 (FPLD2)
Familial partial lipodystrophy type 3 (FPLD3)
Familial platelet disorder with associated myeloid malignancy (FPDMM)
Familial porphyria cutanea tarda (FPCT)
Familial progressive hyperpigmentation (FPH)
Familial scaphocephaly syndrome (FSPC)
Familial spinal neurofibromatosis (spinal NF)
Fanconi anemia (FA)
Fanconi anemia complementation group D type 1 (FANCD1)
Fanconi anemia complementation group D type 2 (FANCD2)
Fanconi anemia complementation group J (FANCJ)
Fanconi anemia complementation group O (FANCO)
Fanconi-Bickel syndrome (FBS)
Farber lipogranulomatosis (FL)
Fatal familial insomnia (FFI)
Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency ...
Fechtner syndrome (FTNS)
Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL)
Fertile eunuch syndrome (FEUNS)
Fetal akinesia deformation sequence (FADS)
FG syndrome type 2 (FGS2)
FG syndrome type 4 (FGS4)
Fibrodysplasia ossificans progressiva (FOP)
Fish-eye disease (FED)
Focal cortical dysplasia of Taylor balloon cell type (FCDBC)
Focal dermal hypoplasia (FODH)
Focal segmental glomerulosclerosis type 1 (FSGS1)
Focal segmental glomerulosclerosis type 2 (FSGS2)
Focal segmental glomerulosclerosis type 4 (FSGS4)
Focal segmental glomerulosclerosis type 5 (FSGS5)
Foveal hypoplasia (FOVHYP)
Fragile X syndrome (FRAX)
Frank-Ter Haar syndrome (FTHS)
Fraser syndrome (FRASS)
Frasier syndrome (FS)
Friedreich ataxia (FRDA)
Frontometaphyseal dysplasia (FMD)
Frontonasal dysplasia type 1 (FND1)
Frontotemporal dementia
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17)
Frontotemporal dementia, chromosome 3-linked (FTD3)
Fructose-1,6-bisphosphatase deficiency (FBPD)
Fructosuria (FRUCT)
Fucosidosis (FUCA1D)
Fuhrmann syndrome (FUHRS)
Fumarase deficiency (FHD)
Fundus albipunctatus (FA)
Fundus flavimaculatus (FFM)
Galactosemia (GALCT)
Galactosemia II (GALCT2)
Galactosialidosis (GSL)
Gallbladder disease type 1 (GBD1)
Gamma-aminobutyrate transaminase deficiency (GABA-AT deficiency)
Gastric cancer
Gastric cancer (GASC)
Gastrointestinal stromal tumor (GIST)
Gaucher disease (GD)
Geleophysic dysplasia (GLPD)
Generalized atrophic benign epidermolysis bullosa (GABEB)
Generalized epilepsy and paroxysmal dyskinesia (GEPD)
Generalized epilepsy with febrile seizures plus (GEFS+)
Generalized epilepsy with febrile seizures plus type 1 (GEFS+1)
Generalized epilepsy with febrile seizures plus type 2 (GEFS+2)
Generalized epilepsy with febrile seizures plus type 3 (GEFS+3)
Generalized epilepsy with febrile seizures plus type 5 (GEFS+5)
Generalized epilepsy with febrile seizures plus type 7 (GEFS+7)
Generalized thyroid hormone resistance (GTHR)
Gerstmann-Straussler disease (GSD)
Ghosal hematodiaphyseal dysplasia (GHDD)
Giant axonal neuropathy (GAN)
Gilbert syndrome (GILBS)
Gitelman syndrome (GS)
GK deficiency (GKD)
Glanzmann thrombasthenia (GT)
Globozoospermia (GLOBZOOS)
Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)
Glomerulopathy with fibronectin deposits type 2 (GFND2)
Glucocorticoid deficiency type 1 (GCCD1)
Glucocorticoid resistance (GCRES)
Glucose transporter type 1 deficiency syndrome (GLUT1DS)
Glutamate formiminotransferase deficiency (GLUFORDE)
Glutaric aciduria type 1 (GA1)
Glutaric aciduria type 2A (GA2A)
Glutaric aciduria type 2B (GA2B)
Glutaric aciduria type 3 (GA3)
Glutathione synthetase deficiency (GSS deficiency)
Glycine N-methyltransferase deficiency (GNMT deficiency)
Glycogen storage disease of heart lethal congenital (GSDH)
Glycogen storage disease type 0 (GSD0)
Glycogen storage disease type 10 (GSD10)
Glycogen storage disease type 12 (GSD12)
Glycogen storage disease type 13 (GSD13)
Glycogen storage disease type 14 (GSD14)
Glycogen storage disease type 15 (GSD15)
Glycogen storage disease type 1A (GSD1A)
Glycogen storage disease type 1B (GSD1B)
Glycogen storage disease type 1C (GSD1C)
Glycogen storage disease type 2 (GSD2)
Glycogen storage disease type 3 (GSD3)
Glycogen storage disease type 4 (GSD4)
Glycogen storage disease type 5 (GSD5)
Glycogen storage disease type 6 (GSD6)
Glycogen storage disease type 7 (GSD7)
Glycogen storage disease type 9A (GSD9A)
Glycogen storage disease type 9B (GSD9B)
Glycogen storage disease type 9C (GSD9C)
Glycogen storage disease type 9D (GSD9D)
GM1-gangliosidosis type 1 (GM1G1)
GM1-gangliosidosis type 2 (GM1G2)
GM1-gangliosidosis type 3 (GM1G3)
GM2-gangliosidosis type 1 (GM2G1)
GM2-gangliosidosis type 2 (GM2G2)
GM2-gangliosidosis type AB (GM2GAB)
GNAS hyperfunction (GNASHYP)
Gnathodiaphyseal dysplasia (GDD)
Gonadal dysgenesis XY complete CBX2-related (GDXYC-CBX2)
Gonadal dysgenesis XY female type (GDXY)
Gout HPRT-related (GOUT-HPRT)
GRACILE syndrome (GRACILE)
Greig cephalo-poly-syndactyly syndrome (GCPS)
Griscelli syndrome type 2 (GS2)
Griscelli syndrome type 3 (GS3)
Growth hormone deficiency isolated type 1B (IGHD1B)
Growth hormone deficiency isolated type 2 (IGHD2)
Growth hormone deficiency with pituitary anomalies (GHDPA)
Growth retardation developmental delay coarse facies and early death (GRDDCFE...
GTP cyclohydrolase 1 deficiency (GCH1D)
Guanidinoacetate methyltransferase deficiency (GAMT deficiency)
Guttmacher syndrome (GUTTS)
H syndrome (HSYN)
Hailey-Hailey disease (HHD)
Haim-Munk syndrome (HMS)
Hallermann-Streiff syndrome (HSS)
Hand-foot-genital syndrome (HFGS)
Hartnup disorder (HND)
Head and neck squamous cell carcinomas (HNSCC)
Hemangioma capillary infantile (HCI)
Hemochromatosis (HFE)
Hemochromatosis type 2A (HFE2A)
Hemochromatosis type 2B (HFE2B)
Hemochromatosis type 3 (HFE3)
Hemochromatosis type 4 (HFE4)
Hemolytic anemia (HAGGSD)
Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficienc...
Hemolytic uremic syndrome atypical type 1 (AHUS1)
Hemolytic uremic syndrome atypical type 2 (AHUS2)
Hemolytic uremic syndrome atypical type 3 (AHUS3)
Hemolytic uremic syndrome atypical type 4 (AHUS4)
Hemolytic uremic syndrome atypical type 5 (AHUS5)
Hemolytic uremic syndrome atypical type 6 (AHUS6)
Hemophagocytic lymphohistiocytosis familial type 2 (FHL2)
Hemophagocytic lymphohistiocytosis familial type 5 (FHL5)
Hemophilia A (HEMA)
Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP)
Heparin cofactor 2 deficiency (HCF2D)
Hepatic lipase deficiency (HL deficiency)
Hepatocellular carcinoma (HCC)
Hepatoerythropoietic porphyria (HEP)
Hereditary angioedema (HAE)
Hereditary angioedema type 3 (HAE3)
Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)
Hereditary coproporphyria (HCP)
Hereditary diffuse gastric cancer (HDGC)
Hereditary folate malabsorption (HFM)
Hereditary fructose intolerance (HFI)
Hereditary hemorrhagic telangiectasia type 1 (HHT1)
Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Hereditary intrinsic factor deficiency (IFD)
Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Hereditary multiple exostoses type 1 (EXT1)
Hereditary multiple exostoses type 2 (EXT2)
Hereditary neuralgic amyotrophy (HNA)
Hereditary neuropathy with liability to pressure palsies (HNPP)
Hereditary neutrophilia (NEUTROPHILIA)
Hereditary non-polyposis colorectal cancer type 1 (HNPCC1)
Hereditary non-polyposis colorectal cancer type 2 (HNPCC2)
Hereditary non-polyposis colorectal cancer type 5 (HNPCC5)
Hereditary non-polyposis colorectal cancer type 6 (HNPCC6)
Hereditary non-polyposis colorectal cancer type 7 (HNPCC7)
Hereditary orotic aciduria (HOA)
Hereditary pancreatitis (HPC)
Hereditary paragangliomas type 1 (PGL1)
Hereditary paragangliomas type 2 (PGL2)
Hereditary paragangliomas type 4 (PGL4)
Hereditary pyropoikilocytosis (HPP)
Hereditary sensory and autonomic neuropathy type 1A (HSAN1A)
Hereditary sensory and autonomic neuropathy type 1C (HSAN1C)
Hereditary sensory and autonomic neuropathy type 3 (HSAN3)
Hereditary sensory and autonomic neuropathy type 5 (HSAN5)
Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HS...
Hereditary susceptibility to Wilms tumor 5 (WT5)
Hermansky-Pudlak syndrome type 2 (HPS2)
Hermansky-Pudlak syndrome type 3 (HPS3)
Hermansky-Pudlak syndrome type 5 (HPS5)
Herpes simplex encephalitis type 2 (HSE2)
Hexokinase deficiency (HK deficiency)
HIBCH deficiency (HIBCHD)
High bone mass trait (HBM)
High density lipoprotein deficiency type 1 (HDLD1)
High density lipoprotein deficiency type 2 (HDLD2)
High quantity in the brain of humans and animals infected with neurodegenerat...
Hirschsprung disease type 1 (HSCR1)
Hirschsprung disease type 2 (HSCR2)
Hirschsprung disease type 3 (HSCR3)
Hirschsprung disease type 4 (HSCR4)
Hirschsprung disease, cardiac defects and autonomic dysfunction (HSCRCDAD)
Histidinemia (HISTID)
HMG-CoA synthase deficiency (HMGCS deficiency)
Holocarboxylase synthetase deficiency (HLCS deficiency)
Holoprosencephaly type 2 (HPE2)
Holoprosencephaly type 3 (HPE3)
Holoprosencephaly type 4 (HPE4)
Holoprosencephaly type 5 (HPE5)
Holoprosencephaly type 7 (HPE7)
Holoprosencephaly type 9 (HPE9)
Holt-Oram syndrome (HOS)
Hoyeraal-Hreidarsson syndrome (HHS)
Hutchinson-Gilford progeria syndrome (HGPS)
Hydatidiform mole (HYDM)
Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Hydrolethalus syndrome type 1 (HLS1)
Hyper-IgM immunodeficiency syndrome type 2 (HIGM2)
Hyper-IgM immunodeficiency syndrome type 3 (HIGM3)
Hyperalphalipoproteinemia (HYPALIP)
Hypercatabolic hypoproteinemia (HYCATHYP)
HyperCKmia (HYPCK)
Hyperglycinuria (HG)
Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIE...
Hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HI...
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Hyperlipoproteinemia type 1B (HLPP1B)
Hyperlipoproteinemia type 3 (HLPP3)
Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Hyperoxaluria primary type 1 (HP1)
Hyperoxaluria primary type 3 (HP3)
Hyperparathyroidism-jaw tumor syndrome (HPT-JT)
Hyperphenylalaninemia (HPA)
Hyperphosphatasia with mental retardation (HPMR)
Hyperphosphatemic familial tumoral calcinosis (HFTC)
Hyperprolinemia type 1 (HP-1)
Hyperprolinemia type 2 (HP-2)
Hyperthyroidism familial gestational (HTFG)
Hyperthyroidism non-autoimmune (HTNA)
Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE)
Hypochondroplasia (HCH)
Hypochromic microcytic anemia (HCMA)
Hypogonadism LHB-related (HGON-LHB)
Hypomagnesemia renal with ocular involvement (HOMGO)
Hypomagnesemia type 1 (HOMG1)
Hypomagnesemia type 2 (HOMG2)
Hypomagnesemia type 3 (HOMG3)
Hypomagnesemia type 4 (HOMG4)
Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR)
Hypophosphatasia (HOPS)
Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1)
Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2)
Hypophosphatemic rickets X-linked recessive (XLRH)
Hypoplastic left heart syndrome (HLHS)
Hypotrichosis localized autosomal recessive type 2 (LAH2)
Hypotrichosis simplex (HTS)
Hypotrichosis with juvenile macular dystrophy (HJMD)
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)
Ichthyosis annular epidermolytic (AEI)
Ichthyosis autosomal recessive with hypotrichosis (ARIH)
Ichthyosis bullosa of Siemens (IBS)
Ichthyosis congenital autosomal recessive ichthyin-related (ARCII)
Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1)
Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS)
Ichthyosis harlequin (HI)
Ichthyosis hystrix-like with deafness syndrome (HID syndrome)
Ichthyosis lamellar type 1 (LI1)
Ichthyosis lamellar type 2 (LI2)
Ichthyosis lamellar type 3 (LI3)
Ichthyosis prematurity syndrome (IPS)
Ichthyosis X-linked (IXL)
Idiopathic generalized epilepsy type 6 (IGE6)
Idiopathic generalized epilepsy type 8 (IGE8)
Idiopathic hypogonadotropic hypogonadism (IHH)
Idiopathic infantile arterial calcification (IIAC)
Idiopathic short stature autosomal (ISSA)
Iminoglycinuria (IG)
Immune dysfunction with T-cell inactivation due to calcium entry defect type ...
Immunodeficiency common variable type 2 (CVID2)
Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)
Immunodeficiency with hyper-IgM type 5 syndrome (HIGM5)
Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)
Immunoglobulin A deficiency 2 (IGAD2)
Inclusion body myopathy type 2 (IBM2)
Inclusion body myopathy type 3 (IBM3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dem...
Incontinentia pigmenti (IP)
Increased susceptibility for ossification of the posterior longitudinal ligam...
Infantile Refsum disease (IRD)
Infantile sialic acid storage disorder (ISSD)
Infantile striatonigral degeneration (SNDI)
Infantile systemic hyalinosis (ISH)
Infections recurrent associated with encephalopathy hepatic dysfunction and c...
Inflammatory bowel disease type 28 (IBD28)
Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency)
Insulin resistance (Ins resistance)
Insulin-like growth factor 1 resistance (IGF1RES)
Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN ty...
Intervertebral disc disease (IDD)
Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC...
Intrahepatic cholestasis of pregnancy (ICP)
Iridogoniodysgenesis anomaly (IGDA)
Iridogoniodysgenesis type 2 (IRID2)
Iron-refractory iron deficiency anemia (IRIDA)
Isobutyryl-CoA dehydrogenase deficiency (IBDD)
Isolated congenital nail clubbing (ICNC)
Isolated disordered steroidogenesis (IDS)
Isolated ectopia lentis (EL)
Isolated follicle-stimulating hormone deficiency (IFSHD)
Isolated sulfite oxidase deficiency (ISOD)
Isolated toenail dystrophy without skin fragility (INDWSF)
Isovaleric acidemia (IVA)
Jackson-Weiss syndrome (JWS)
Jalili syndrome (JALIS)
Jansen metaphyseal chondrodysplasia (JMC)
Jervell and Lange-Nielsen syndrome type 1 (JLNS1)
Jervell and Lange-Nielsen syndrome type 2 (JLNS2)
Johanson-Blizzard syndrome (JBS)
Joubert syndrome type 1 (JBTS1)
Joubert syndrome type 2 (JBTS2)
Joubert syndrome type 3 (JBTS3)
Joubert syndrome type 5 (JBTS5)
Joubert syndrome type 6 (JBTS6)
Joubert syndrome type 7 (JBTS7)
Joubert syndrome type 8 (JBTS8)
Joubert syndrome type 9 (JBTS9)
Juvenile hemangioma
Juvenile hyaline fibromatosis (JHF)
Juvenile myelomonocytic leukemia (JMML)
Juvenile myoclonic epilepsy type 1 (EJM1)
Juvenile myoclonic epilepsy type 5 (EJM5)
Juvenile polyposis syndrome (JPS)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)
Kabuki syndrome (KABS)
Kallmann syndrome type 1 (KAL1)
Kallmann syndrome type 2 (KAL2)
Kallmann syndrome type 3 (KAL3)
Kallmann syndrome type 4 (KAL4)
Kallmann syndrome type 5 (KAL5)
Kallmann syndrome type 6 (KAL6)
Kanzaki disease (KANZD)
Kartagener syndrome (KTGS)
Keratinocytic non-epidermolytic nevus (KNEN)
Keratitis-ichthyosis-deafness syndrome (KID syndrome)
Keratoconus type 1 (KTCN1)
Keratosis follicularis spinulosa decalvans X-linked (KFSDX)
Keratosis seborrheic (KERSEB)
Klippel-Feil syndrome type 1 (KFS1)
Klippel-Trenaunay syndrome (KTS)
Kniest dysplasia (KD)
Kowarski syndrome (KWKS)
L-2-hydroxyglutaric aciduria (L2HGA)
Lacrimo-auriculo-dento-digital syndrome (LADDS)
Langer mesomelic dysplasia (LMD)
Laron syndrome (LARS)
Laron type dwarfism II (LTD2)
Late-onset retinal degeneration (LORD)
Lateral temporal lobe epilepsy autosomal dominant (ADLTE)
Lathosterolosis (LATHST)
Lattice corneal dystrophy type 3A (CDL3A)
Leber congenital amaurosis type 1 (LCA1)
Leber congenital amaurosis type 13 (LCA13)
Leber congenital amaurosis type 14 (LCA14)
Leber congenital amaurosis type 2 (LCA2)
Leber congenital amaurosis type 4 (LCA4)
Leber congenital amaurosis type 6 (LCA6)
Leber congenital amaurosis type 7 (LCA7)
Leber congenital amaurosis type 8 (LCA8)
Leber hereditary optic neuropathy (LHON)
Leber hereditary optic neuropathy with dystonia (LDYT)
Lecithin-cholesterol acyltransferase deficiency (LCATD)
Left ventricular non-compaction type 1 (LVNC1)
Left ventricular non-compaction X-linked (LVNCX)
Legius syndrome (LEGIUSS)
Leigh syndrome
Leigh syndrome (LS)
Leigh syndrome French-Canadian type (LSFC)
LEOPARD syndrome type 1 (LEOPARD1)
LEOPARD syndrome type 2 (LEOPARD2)
Leprechaunism (LEPRCH)
Leri-Weill dyschondrosteosis (LWD)
Lesch-Nyhan syndrome (LNS)
Lethal arthrogryposis with anterior horn cell disease (LAAHD)
Lethal congenital contracture syndrome type 1 (LCCS1)
Lethal congenital contracture syndrome type 3 (LCCS3)
Leucine-induced hypoglycemia (LIH)
Leukocyte adhesion deficiency type 1 (LAD1)
Leukodystrophy dysmyelinating with spastic paraparesis with or without dyston...
Leukodystrophy globoid cell (GLD)
Leukodystrophy hypomyelinating type 1 (HLD1)
Leukodystrophy hypomyelinating type 2 (HLD2)
Leukodystrophy hypomyelinating type 4 (HLD4)
Leukodystrophy hypomyelinating type 5 (HLD5)
Leukodystrophy metachromatic (MLD)
Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
Leukodystrophy with vanishing white matter (VWM)
Leukoencephalopathy cystic without megalencephaly (LCWM)
Leukoencephalopathy megalencephalic with subcortical cysts (MLC)
Leukoencephalopathy with brainstem and spinal cord involvement and lactate el...
Lhermitte-Duclos disease (LDD)
Li-Fraumeni syndrome (LFS)
Li-Fraumeni syndrome 2 (LFS2)
Liddle syndrome (LIDDS)
LIG4 syndrome (LIG4S)
Limb-girdle muscular dystrophy type 1A (LGMD1A)
Limb-girdle muscular dystrophy type 1B (LGMD1B)
Limb-girdle muscular dystrophy type 1C (LGMD1C)
Limb-girdle muscular dystrophy type 2A (LGMD2A)
Limb-girdle muscular dystrophy type 2B (LGMD2B)
Limb-girdle muscular dystrophy type 2C (LGMD2C)
Limb-girdle muscular dystrophy type 2D (LGMD2D)
Limb-girdle muscular dystrophy type 2E (LGMD2E)
Limb-girdle muscular dystrophy type 2F (LGMD2F)
Limb-girdle muscular dystrophy type 2H (LGMD2H)
Limb-girdle muscular dystrophy type 2L dysplasia (LGMD2L)
Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)
Lipoid proteinosis (LiP)
Lipoprotein glomerulopathy (LPG)
Lipoprotein lipase deficiency (LPL deficiency)
Lissencephaly type 1 (LIS1)
Lissencephaly type 3 (LIS3)
Lissencephaly X-linked type 1 (LISX1)
Lissencephaly X-linked type 2 (LISX2)
Lobular carcinoma in situ (LCIS)
Loeys-Dietz syndrome type 1A (LDS1A)
Loeys-Dietz syndrome type 1B (LDS1B)
Loeys-Dietz syndrome type 2A (LDS2A)
Loeys-Dietz syndrome type 2B (LDS2B)
Long QT syndrome type 1 (LQT1)
Long QT syndrome type 10 (LQT10)
Long QT syndrome type 11 (LQT11)
Long QT syndrome type 12 (LQT12)
Long QT syndrome type 13 (LQT13)
Long QT syndrome type 2 (LQT2)
Long QT syndrome type 3 (LQT3)
Long QT syndrome type 4 (LQT4)
Long QT syndrome type 5 (LQT5)
Long QT syndrome type 6 (LQT6)
Long QT syndrome type 7 (LQT7)
Long QT syndrome type 9 (LQT9)
Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency)
Loose anagen hair syndrome (LAHS)
Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LM...
Lowe oculocerebrorenal syndrome (OCRL)
Lujan-Fryns syndrome (LUJFRYS)
Lung cancer (LNCR)
Luteinizing hormone resistance (LHR)
Lymphangioleiomyomatosis (LAM)
Lymphedema hereditary type 1A (LMPH1A)
Lymphedema hereditary type 1C (LMPH1C)
Lymphedema-distichiasis (LYD)
Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1)
Lymphoproliferative syndrome X-linked type 1 (XLP1)
Lysinuric protein intolerance (LPI)
Lysosomal alpha-mannosidosis (AM)
Lysyl hydroxylase 3 deficiency (LH3 deficiency)
Macrocephaly/autism syndrome (MCEPHAS)
Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1)
Macrothrombocytopenia with progressive sensorineural deafness (MPSD)
Macular corneal dystrophy (MCD)
Maculopathy IMPG2-related (MACLP-IMPG2)
Majeed syndrome (MAJEEDS)
Mal de Meleda (MDM)
Male pseudohermaphrodism with gynecomastia (MPH)
Malignant hyperthermia susceptibility type 1 (MHS1)
Malignant hyperthermia susceptibility type 5 (MHS5)
Mandibuloacral dysplasia with type A lipodystrophy (MADA)
Mandibuloacral dysplasia with type B lipodystrophy (MADB)
Maple syrup urine disease type 2 (MSUD2)
Maple syrup urine disease type IA (MSUD1A)
Maple syrup urine disease type IB (MSUD1B)
Marfan syndrome (MFS)
Martsolf syndrome (MARTS)
Maternal acute fatty liver of pregnancy (AFLP)
Maturity-onset diabetes of the young type 1 (MODY1)
Maturity-onset diabetes of the young type 10 (MODY10)
Maturity-onset diabetes of the young type 2 (MODY2)
Maturity-onset diabetes of the young type 3 (MODY3)
Maturity-onset diabetes of the young type 4 (MODY4)
Maturity-onset diabetes of the young type 6 (MODY6)
Maturity-onset diabetes of the young type 7 (MODY7)
Maturity-onset diabetes of the young type 9 (MODY9)
May-Hegglin anomaly (MHA)
McCune-Albright syndrome (MAS)
McKusick-Kaufman syndrome (MKKS)
McLeod syndrome (MLS)
Meacham syndrome (MEACHS)
Meckel syndrome type 1 (MKS1)
Meckel syndrome type 2 (MKS2)
Meckel syndrome type 3 (MKS3)
Meckel syndrome type 6 (MKS6)
Medullary cystic kidney disease type 2 (MCKD2)
Medullary thyroid carcinoma (MTC)
Medulloblastoma (MDB)
Meesmann corneal dystrophy (MECD)
Melnick-Needles syndrome (MNS)
Mendelian susceptibility to mycobacterial disease (MSMD)
Menkes disease (MNKD)
Mental retardation autosomal dominant type 3 (MRD3)
Mental retardation syndromic X-linked Cabezas type (MRXC)
Mental retardation syndromic X-linked JARID1C-related (MRXSJ)
Mental retardation syndromic X-linked Siderius type (MRXSSD)
Mental retardation syndromic X-linked Stocco dos Santos type (MRXSSS)
Mental retardation syndromic X-linked type 13 (MRXS13)
Mental retardation syndromic X-linked type 14 (MRXS14)
Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (...
Mental retardation X-linked CASK-related (MRXCASK)
Mental retardation X-linked SYP-related (MRXSYP)
Mental retardation X-linked type 1 (MRX1)
Mental retardation X-linked type 30 (MRX30)
Mental retardation X-linked type 41 (MRX41)
Mental retardation X-linked type 45 (MRX45)
Mental retardation X-linked type 48 (MRX48)
Mental retardation X-linked type 58 (MRX58)
Mental retardation X-linked type 63 (MRX63)
Mental retardation X-linked type 89 (MRX89)
Mental retardation X-linked type 92 (MRX92)
Mental retardation X-linked type 93 (MRX93)
Mental retardation X-linked type 94 (MRX94)
Mental retardation X-linked type 95 (MRX95)
Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA)
Mental retardation-joint hypermobility-skin laxity with or without metabolic ...
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A)
Metaphyseal anadysplasia type 1 (MANDP1)
Metatropic dysplasia (MTD)
Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Methionine adenosyltransferase deficiency (MATD)
Methylcobalamin deficiency type E (cblE)
Methylcobalamin deficiency type G (cblG)
Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency)
Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency)
Methylenetetrahydrofolate reductase deficiency (MTHFRD)
Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency)
Methylmalonic aciduria and homocystinuria type cblC (MMACHC)
Methylmalonic aciduria and homocystinuria type cblD (MMADHC)
Methylmalonic aciduria type cblA (MMAA)
Methylmalonic aciduria type cblB (MMAB)
Methylmalonic aciduria type mut (MMAM)
Mevalonic aciduria (MEVA)
Microcephaly Amish type (MCPHA)
Microcephaly cortical malformations and mental retardation (MCMMR)
Microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA)
Microcephaly primary type 1 (MCPH1)
Microcephaly primary type 4 (MCPH4)
Microcephaly primary type 6 (MCPH6)
Microcephaly seizures and development delay (MCSZ)
Microcephaly-oculo-digito-esophageal-duodenal syndrome (MODED)
Microphthalmia isolated type 2 (MCOP2)
Microphthalmia isolated type 3 (MCOP3)
Microphthalmia isolated type 4 (MCOP4)
Microphthalmia isolated with cataract type 2 (MCOPCT2)
Microphthalmia isolated with cataract type 4 (MCOPCT4)
Microphthalmia syndromic type 2 (MCOPS2)
Microphthalmia syndromic type 5 (MCOPS5)
Microphthalmia syndromic type 6 (MCOPS6)
Microphthalmia syndromic type 7 (MCOPS7)
Microphthalmia syndromic type 9 (MCOPS9)
Microphthalmia with cataracts and iris abnormalities (MCOPCTI)
Microtia hearing impairment and cleft palate (MHICP)
Migraine familial hemiplegic type 1 (FHM1)
Migraine familial hemiplegic type 2 (FHM2)
Migraine familial hemiplegic type 3 (FHM3)
Mismatch repair cancer syndrome (MMRCS)
Mitochondrial complex I deficiency (MT-C1D)
Mitochondrial complex II deficiency (MT-C2D)
Mitochondrial complex III deficiency (MT-C3D)
Mitochondrial complex IV deficiency (MT-C4D)
Mitochondrial DNA depletion syndrome type 1 (MTDPS1)
Mitochondrial DNA depletion syndrome type 2 (MTDPS2)
Mitochondrial DNA depletion syndrome type 3 (MTDPS3)
Mitochondrial DNA depletion syndrome type 4A (MTDPS4A)
Mitochondrial DNA depletion syndrome type 4B (MTDPS4B)
Mitochondrial DNA depletion syndrome type 5 (MTDPS5)
Mitochondrial DNA depletion syndrome type 6 (MTDPS6)
Mitochondrial DNA depletion syndrome type 7 (MTDPS7)
Mitochondrial DNA depletion syndrome type 8A (MTDPS8A)
Mitochondrial DNA depletion syndrome type 8B (MTDPS8B)
Mitochondrial DNA depletion syndrome type 9 (MTDPS9)
Mitochondrial encephalocardiomyopathy neonatal due to ATP synthase deficiency...
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes...
Mitochondrial infantile bilateral striatal necrosis (MIBSN)
Mitochondrial phosphate carrier deficiency (MPCD)
Mitochondrial progressive myopathy with congenital cataract hearing loss and ...
Miyoshi muscular dystrophy type (MMD1)
Miyoshi muscular dystrophy type 3 (MMD3)
Mohr-Tranebjaerg syndrome (MTS)
Molybdenum cofactor deficiency type A (MOCOD type A)
Molybdenum cofactor deficiency type B (MOCOD type B)
Monilethrix (MLTRX)
Monocarboxylate transporter 8 deficiency (MCT8 deficiency)
Mononeuropathy of the median nerve mild (MNMN)
Mosaic variegated aneuploidy syndrome (MVA)
Muckle-Wells syndrome (MWS)
Mucolipidosis type II (MLII)
Mucolipidosis type III complementation group A (MLIIIA)
Mucolipidosis type IV (MLIV)
Mucopolysaccharidosis type 1H (MPS1H)
Mucopolysaccharidosis type 1H/S (MPS1H/S)
Mucopolysaccharidosis type 1S (MPS1S)
Mucopolysaccharidosis type 2 (MPS2)
Mucopolysaccharidosis type 3A (MPS3A)
Mucopolysaccharidosis type 3B (MPS3B)
Mucopolysaccharidosis type 3C (MPS3C)
Mucopolysaccharidosis type 3D (MPS3D)
Mucopolysaccharidosis type 4A (MPS4A)
Mucopolysaccharidosis type 4B (MPS4B)
Mucopolysaccharidosis type 6 (MPS6)
Mucopolysaccharidosis type 7 (MPS7)
Mucopolysaccharidosis type 9 (MPS9)
Muenke syndrome (MNKS)
Mulibrey nanism (MUL)
Multiminicore disease with external ophthalmoplegia (MMDO)
Multiple cutaneous and uterine leiomyomata (MCUL1)
Multiple epiphyseal dysplasia type 1 (EDM1)
Multiple epiphyseal dysplasia type 4 (EDM4)
Multiple epiphyseal dysplasia type 5 (EDM5)
Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)
Multiple familial trichoepithelioma type 1 (MFT1)
Multiple neoplasia type 2A (MEN2A)
Multiple neoplasia type 2B (MEN2B)
Multiple pterygium syndrome Escobar variant (MUPSE)
Multiple pterygium syndrome lethal type (MUPSL)
Multiple sulfatase deficiency (MSD)
Multiple synostoses syndrome type 1 (SYNS1)
Multiple synostoses syndrome type 2 (SYNS2)
Multiple synostoses syndrome type 3 (SYNS3)
Muscular dystrophy congenital LMNA-related (CMD-LMNA)
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies...
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies...
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies...
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies...
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies...
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies...
Muscular dystrophy-dystroglycanopathy congenital with mental retardation type...
Muscular dystrophy-dystroglycanopathy congenital with mental retardation type...
Muscular dystrophy-dystroglycanopathy congenital with mental retardation type...
Muscular dystrophy-dystroglycanopathy congenital with mental retardation type...
Muscular dystrophy-dystroglycanopathy congenital with or without mental retar...
Muscular dystrophy-dystroglycanopathy congenital without mental retardation t...
Muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1)
Muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2)
Muscular dystrophy-dystroglycanopathy limb-girdle type C3 (MDDGC3)
Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4)
Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5)
MYD88 deficiency (MYD88D)
Myeloperoxidase deficiency (MPD)
Myofibrillar alpha-B crystallin-related (MFM-CRYAB)
Myokymia isolated type 1 (MK1)
Myopathy distal type 1 (MPD1)
Myopathy distal type 2 (MPD2)
Myopathy myofibrillar BAG3-related (MFM-BAG3)
Myopathy myofibrillar desmin-related (MFM-DES)
Myopathy myofibrillar myotylin-related (MFM-MYOT)
Myopathy myosin storage (MYOMS)
Myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1)
Myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2)
Myotonia SCN4A-related (MYOSCN4A)
N-acetylglutamate synthase deficiency (NAGSD)
Nail-patella syndrome (NPS)
Nanophthalmos 2 (NNO2)
Narcolepsy type 1 (NRCLP1)
Nemaline myopathy type 1 (NEM1)
Nemaline myopathy type 3 (NEM3)
Nemaline myopathy type 4 (NEM4)
Nemaline myopathy type 6 (NEM6)
Nemaline myopathy type 7 (NEM7)
Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD)
Neonatal severe primary hyperparathyroidism (NSHPT)
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)
Nephrolithiasis type 1 (NPHL1)
Nephrolithiasis type 2 (NPHL2)
Nephronophthisis type 1 (NPHP1)
Nephronophthisis type 11 (NPHP11)
Nephronophthisis type 2 (NPHP2)
Nephronophthisis type 3 (NPHP3)
Nephronophthisis type 4 (NPHP4)
Nephronophthisis-like nephropathy type 1 (NPHPL1)
Nephrotic syndrome type 1 (NPHS1)
Nephrotic syndrome type 2 (NPHS2)
Nephrotic syndrome type 3 (NPHS3)
Nephrotic syndrome type 4 (NPHS4)
Neural tube defects (NTD)
Neuroblastoma type 3 (NBLST3)
Neurodegeneration with brain iron accumulation type 1 (NBIA1)
Neurodegeneration with brain iron accumulation type 2A (NBIA2A)
Neurodegeneration with brain iron accumulation type 2B (NBIA2B)
Neurodegeneration with brain iron accumulation type 3 (NBIA3)
Neurofibromatosis 2 (NF2)
Neurofibromatosis-Noonan syndrome (NFNS)
Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)
Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)
Neuronal ceroid lipofuscinosis type 1 (CLN1)
Neuronal ceroid lipofuscinosis type 10 (CLN10)
Neuronal ceroid lipofuscinosis type 2 (CLN2)
Neuronal ceroid lipofuscinosis type 3 (CLN3)
Neuronal ceroid lipofuscinosis type 5 (CLN5)
Neuronal ceroid lipofuscinosis type 6 (CLN6)
Neuronal ceroid lipofuscinosis type 7 (CLN7)
Neuronal ceroid lipofuscinosis type 8 (CLN8)
Neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE)
Neutral lipid storage disease with myopathy (NLSDM)
Neutropenia severe congenital autosomal dominant type 1 (SCN1)
Neutropenia severe congenital autosomal dominant type 2 (SCN2)
Neutropenia severe congenital autosomal recessive type 3 (SCN3)
Neutropenia severe congenital autosomal recessive type 4 (SCN4)
Neutropenia severe congenital X-linked (XLN)
Neutrophil immunodeficiency syndrome (NEUID)
Niemann-Pick disease type A (NPDA)
Niemann-Pick disease type B (NPDB)
Niemann-Pick disease type C1 (NPDC1)
Niemann-Pick disease type C2 (NPDC2)
Nocturnal frontal lobe epilepsy type 1 (ENFL1)
Nocturnal frontal lobe epilepsy type 3 (ENFL3)
Nocturnal frontal lobe epilepsy type 4 (ENFL4)
Non-bullous congenital ichthyosiform erythroderma (NCIE)
Non-Hodgkin lymphoma (NHL)
Non-insulin-dependent diabetes mellitus (NIDDM)
Non-ketotic hyperglycinemia (NKH)
Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)
Non-syndromic auditory neuropathy autosomal recessive (NSRAN)
Non-syndromic orofacial cleft type 11 (OFC11)
Non-syndromic orofacial cleft type 5 (OFC5)
Non-syndromic orofacial cleft type 6 (OFC6)
Non-syndromic orofacial cleft type 8 (OFC8)
Non-type I cystinuria (CSNU)
Nonaka myopathy (NM)
Noninsulin-dependent diabetes mellitus (NIDDM)
Noonan syndrome type 1 (NS1)
Noonan syndrome type 3 (NS3)
Noonan syndrome type 4 (NS4)
Noonan syndrome type 5 (NS5)
Noonan syndrome type 6 (NS6)
Noonan syndrome-like disorder (NSL)
Noonan syndrome-like with loose anagen hair (NSLAH)
Normophosphatemic familial tumoral calcinosis (NFTC)
Norrie disease (ND)
North American Indian childhood cirrhosis (NAIC)
Nystagmus congenital X-linked type 1 (NYS1)
Nystagmus congenital X-linked type 6 (NYS6)
Obesity (OBESITY)
Occipital horn syndrome (OHS)
Odonto-onycho-dermal dysplasia (OODD)
Omenn syndrome (OS)
Opitz syndrome type I (OS-I)
Opitz-Kaveggia syndrome (OKS)
Optic atrophy 1 with deafness (OPA1D)
Optic atrophy type 1 (OPA1)
Optic atrophy type 3 (OPA3)
Oral squamous cell carcinoma (OSCC)
Oral-facial-digital syndrome type 1 (OFD1)
Ornithine carbamoyltransferase deficiency (OTCD)
Orthostatic intolerance (OI)
Osteoarthritis with mild chondrodysplasia (OACD)
Osteochondritis dissecans short stature and early-onset osteoarthritis (OD)
Osteogenesis imperfecta type 1 (OI1)
Osteogenesis imperfecta type 2A (OI2A)
Osteogenesis imperfecta type 2B (OI2B)
Osteogenesis imperfecta type 3 (OI3)
Osteogenesis imperfecta type 4 (OI4)
Osteogenesis imperfecta type 7 (OI7)
Osteogenesis imperfecta type 9 (OI9)
Osteoglophonic dysplasia (OGD)
Osteopetrosis autosomal dominant type 1 (OPTA1)
Osteopetrosis autosomal dominant type 2 (OPTA2)
Osteopetrosis autosomal recessive type 1 (OPTB1)
Osteopetrosis autosomal recessive type 2 (OPTB2)
Osteopetrosis autosomal recessive type 3 (OPTB3)
Osteopetrosis autosomal recessive type 4 (OPTB4)
Osteopetrosis autosomal recessive type 7 (OPTB7)
Osteoporosis-pseudoglioma syndrome (OPPG)
Otopalatodigital syndrome type 1 (OPD1)
Otopalatodigital syndrome type 2 (OPD2)
Ovarian cancer
Ovarian cancer (OC)
Ovarian dysgenesis type 1 (ODG1)
Ovarian dysgenesis type 2 (ODG2)
Ovarian hyperstimulation syndrome (OHSS)
P2RY12 deficiency (P2RY12D)
P5N deficiency (P5ND)
Pachyonychia congenita type 1 (PC1)
Pachyonychia congenita type 2 (PC2)
Paget disease of bone (PDB)
Palmoplantar keratoderma epidermolytic (EPPK)
Palmoplantar keratoderma non-epidermolytic (NEPPK)
Palmoplantar keratoderma non-epidermolytic focal (FNEPPK)
Palmoplantar keratoderma with deafness (PPKDFN)
PAPA syndrome (PAPAS)
Papillon-Lefevre syndrome (PLS)
Paramyotonia congenita of von Eulenburg (PMC)
Parastremmatic dwarfism (PSTD)
Parietal foramina 1 (PFM1)
Parietal foramina 2 (PFM2)
Parkinson disease (PARK)
Parkinson disease type 1 (PARK1)
Parkinson disease type 11 (PARK11)
Parkinson disease type 13 (PARK13)
Parkinson disease type 15 (PARK15)
Parkinson disease type 2 (PARK2)
Parkinson disease type 5 (PARK5)
Parkinson disease type 6 (PARK6)
Parkinson disease type 7 (PARK7)
Parkinson disease type 8 (PARK8)
Paroxysmal extreme pain disorder (PEPD)
Paroxysmal nocturnal hemoglobinuria (PNH)
Partial agenesis of the corpus callosum (ACCPX)
Partial colorblindness protan series (CBP)
Patients with hepatocellular carcinoma (HCC)
Patterned dystrophy of retinal pigment epithelium (PDREP)
Peeling skin syndrome acral type (APSS)
Pelger-Huet anomaly (PHA)
Pendred syndrome (PDS)
Periodic paralysis hyperkalemic (HYPP)
Periodic paralysis hypokalemic type 1 (HOKPP1)
Periodic paralysis hypokalemic type 2 (HOKPP2)
Periodic paralysis normokalemic (NKPP)
Periventricular nodular heterotopia type 1 (PVNH1)
Periventricular nodular heterotopia type 4 (PVNH4)
Peroxisome biogenesis disorder complementation group 1 (PBD-CG1)
Peroxisome biogenesis disorder complementation group 3 (PBD-CG3)
Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)
Perry syndrome (PERRYS)
Persistent Muellerian duct syndrome type 1 (PMDS1)
Persistent Muellerian duct syndrome type 2 (PMDS2)
Peters anomaly (PAN)
Peutz-Jeghers syndrome (PJS)
Pfeiffer syndrome (PS)
Phenylketonuria (PKU)
Pheochromocytoma (PCC)
Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency)
Phosphoglycerate kinase 1 deficiency (PGK1D)
Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
Phosphoserine aminotransferase deficiency (PSATD)
Pick disease of the brain (PIDB)
Piebald trait (PBT)
Pierson syndrome (PIERSS)
Pigmented paravenous chorioretinal atrophy (PPCRA)
Pilomatrixoma (PTR)
Pitt-Hopkins syndrome (PTHS)
Pituitary hormone deficiency combined type 1 (CPHD1)
Pituitary hormone deficiency combined type 2 (CPHD2)
Pituitary hormone deficiency combined type 3 (CPHD3)
Pituitary hormone deficiency combined type 4 (CPHD4)
Pituitary hormone deficiency combined type 5 (CPHD5)
Plasminogen deficiency (PLGD)
Platelet glycoprotein IV deficiency (PG4D)
Platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency)
Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
Pleuropulmonary blastoma (PPB)
Polycystic kidney disease autosomal dominant type 1 (ADPKD1)
Polycystic kidney disease autosomal dominant type 2 (ADPKD2)
Polycystic kidney disease autosomal recessive (ARPKD)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ...
Polycythemia vera (PV)
Polymicrogyria asymmetric (PMGA)
Pontocerebellar hypoplasia type 2A (PCH2A)
Pontocerebellar hypoplasia type 2B (PCH2B)
Pontocerebellar hypoplasia type 2C (PCH2C)
Pontocerebellar hypoplasia type 4 (PCH4)
Popliteal pterygium syndrome (PPS)
Porencephaly familial (PCEPH)
Postaxial acrofacial dysostosis (POADS)
Posterior polymorphous corneal dystrophy type 1 (PPCD1)
Posterior polymorphous corneal dystrophy type 2 (PPCD2)
Pre-eclampsia/eclampsia 4 (PEE4)
Prekallikrein deficiency (PKK deficiency)
Premature chromatid separation trait (PCS)
Premature ovarian failure type 2B (POF2B)
Premature ovarian failure type 3 (POF3)
Premature ovarian failure type 4 (POF4)
Premature ovarian failure type 5 (POF5)
Premature ovarian failure type 7 (POF7)
Primary avascular necrosis of femoral head (ANFH)
Primary bile acid malabsorption (PBAM)
Primary ciliary dyskinesia type 11 (CILD11)
Primary ciliary dyskinesia type 13 (CILD13)
Primary ciliary dyskinesia type 3 (CILD3)
Primary ciliary dyskinesia type 7 (CILD7)
Primary congenital glaucoma type 3A (GLC3A)
Primary erythermalgia (PERYTHM)
Primary open angle glaucoma (POAG)
Primary open angle glaucoma type 1A (GLC1A)
Primary open angle glaucoma type 1E (GLC1E)
Primary open angle glaucoma type 1G (GLC1G)
Primary pulmonary hypertension (PPH1)
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosom...
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosom...
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosom...
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosom...
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosom...
Progressive familial heart block type 1A (PFHB1A)
Progressive familial heart block type 1B (PFHB1B)
Progressive familial intrahepatic cholestasis type 1 (PFIC1)
Progressive familial intrahepatic cholestasis type 2 (PFIC2)
Progressive familial intrahepatic cholestasis type 3 (PFIC3)
Progressive myoclonic epilepsy type 1 (EPM1)
Progressive myoclonic epilepsy type 1B (EPM1B)
Progressive myoclonic epilepsy type 2 (EPM2)
Progressive osseous heteroplasia (POH)
Progressive pseudorheumatoid arthropathy of childhood (PPAC)
Progressive supranuclear palsy type 1 (PSNP1)
Prolidase deficiency (PD)
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH)
Prolonged electroretinal response suppression (PERRS)
Properdin deficiency (PFD)
Propionic acidemia type I (PA-1)
Propionic acidemia type II (PA-2)
Proprotein convertase 1 deficiency (PC1 deficiency)
Prostate cancer (PC)
Protein C deficiency autosomal dominant (ADPROCD)
Protein C deficiency autosomal recessive (ARPROCD)
Protein S deficiency (PROS1D)
Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA)
Pseudoachondroplasia (PSACH)
Pseudohypoaldosteronism type II (PHAII)
Pseudohypoparathyroidism type 1A (PHP1A)
Pseudovaginal perineoscrotal hypospadias (PPSH)
Pseudoxanthoma elasticum (PXE)
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor defic...
Pulmonary alveolar microlithiasis (PALM)
Pulmonary fibrosis idiopathic (IPF)
Pulmonary surfactant metabolism dysfunction type 1 (SMDP1)
Pulmonary surfactant metabolism dysfunction type 2 (SMDP2)
Pulmonary surfactant metabolism dysfunction type 3 (SMDP3)
Pulmonary surfactant metabolism dysfunction type 4 (SMDP4)
Purine nucleoside phosphorylase deficiency (PNP deficiency)
Pycnodysostosis (PKND)
Pyridoxine-dependent epilepsy (PDE)
Pyruvate carboxylase deficiency (PC deficiency)
Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency)
Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency)
Pyruvate kinase deficiency of red cells (PKRD)
Pyruvate kinase hyperactivity (PKHYP)
Rabson-Mendenhall syndrome (RMS)
Raine syndrome (RNS)
Recessive hereditary megaloblastic anemia 1 (RH-MGA1)
Recessive Robinow syndrome (RRS)
Recessive X-linked hemophilia B (HEMB)
Recurrent isolated invasive pneumococcal disease type 2 (IPD2)
Refsum disease (RD)
Regulator type Rh-null hemolytic anemia (RHN)
Reis-Buecklers corneal dystrophy (CDRB)
Renal adysplasia (RADYS)
Renal cell carcinoma (RCC)
Renal cell carcinoma papillary (RCCP)
Renal cysts and diabetes syndrome (RCAD)
Renal glucosuria (GLYS1)
Renal hypouricemia (RH)
Renal tubular dysgenesis (RTD)
Renal-coloboma syndrome (RCS)
Renal-hepatic-pancreatic dysplasia (RHPD)
Reticular dysgenesis (RDYS)
Retinal degeneration autosomal recessive clumped pigment type (RDCP)
Retinal macular dystrophy type 2 (MCDR2)
Retinitis pigmentosa (RP)
Retinitis pigmentosa autosomal recessive (ARRP)
Retinitis pigmentosa type 1 (RP1)
Retinitis pigmentosa type 10 (RP10)
Retinitis pigmentosa type 11 (RP11)
Retinitis pigmentosa type 12 (RP12)
Retinitis pigmentosa type 13 (RP13)
Retinitis pigmentosa type 14 (RP14)
Retinitis pigmentosa type 17 (RP17)
Retinitis pigmentosa type 18 (RP18)
Retinitis pigmentosa type 2 (RP2)
Retinitis pigmentosa type 20 (RP20)
Retinitis pigmentosa type 27 (RP27)
Retinitis pigmentosa type 3 (RP3)
Retinitis pigmentosa type 33 (RP33)
Retinitis pigmentosa type 35 (RP35)
Retinitis pigmentosa type 36 (RP36)
Retinitis pigmentosa type 37 (RP37)
Retinitis pigmentosa type 39 (RP39)
Retinitis pigmentosa type 4 (RP4)
Retinitis pigmentosa type 42 (RP42)
Retinitis pigmentosa type 45 (RP45)
Retinitis pigmentosa type 46 (RP46)
Retinitis pigmentosa type 49 (RP49)
Retinitis pigmentosa type 50 (RP50)
Retinitis pigmentosa type 53 (RP53)
Retinitis pigmentosa type 54 (RP54)
Retinitis pigmentosa type 55 (RP55)
Retinitis pigmentosa type 58 (RP58)
Retinitis pigmentosa type 7 (RP7)
Retinitis pigmentosa type 9 (RP9)
Retinitis pigmentosa with deafness and sinorespiratory infections (RPDSI)
Retinitis punctata albescens (RPA)
Retinol-binding protein deficiency (RBP deficiency)
Retinopathy exudative with bone marrow failure (ERBMF)
Rett syndrome (RTT)
Reynolds syndrome (REYNS)
Rhegmatogenous retinal detachment autosomal dominant (DRRD)
Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
Rhizomelic chondrodysplasia punctata type 2 (RCDP2)
Rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Ribose 5-phosphate isomerase deficiency (RPI deficiency)
Rickets hypophosphatemic autosomal recessive type 2 (ARHR2)
Rickets vitamin D-dependent type 1A (VDDR1A)
Rickets vitamin D-dependent type 1B (VDDR1B)
Rickets vitamin D-dependent type 2A (VDDR2A)
Ring dermoid of cornea (RDC)
Rippling muscle disease (RMD)
Roberts syndrome (RBS)
Rokitansky-Kuster-Hauser syndrome (RKH syndrome)
Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESD...
Roussy-Levy syndrome (ROULS)
Rubinstein-Taybi syndrome type 1 (RSTS1)
S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency)
Sacral defect with anterior meningocele (SDAM)
Saethre-Chotzen syndrome (SCS)
Salla disease (SD)
Sarcoidosis early-onset (EOS)
Scapuloperoneal myopathy MYH7-related (SPMM)
Scapuloperoneal spinal muscular atrophy (SPSMA)
Schimke immuno-osseous dysplasia (SIOD)
Schindler disease (SCHIND)
Schinzel-Giedion midface retraction syndrome (SGMFS)
Schmid type metaphyseal chondrodysplasia (SMCD)
Schwartz-Jampel syndrome (SJS1)
Sclerosteosis (SOST)
SCOT deficiency (SCOTD)
Sebastian syndrome (SBS)
Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalan...
Selective pituitary thyroid hormone resistance (PRTH)
Selective T-cell defect (STD)
Senior-Loken syndrome type 4 (SLSN4)
Senior-Loken syndrome type 6 (SLSN6)
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Septooptic dysplasia (SOD)
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-n...
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-n...
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-p...
Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)
Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-...
Severe combined immunodeficiency, autosomal recessive T cell-negative, B-cell...
Severe myoclonic epilepsy in infancy (SMEI)
Short QT syndrome type 1 (SQT1)
Short QT syndrome type 2 (SQT2)
Short QT syndrome type 3 (SQT3)
Short rib-polydactyly syndrome type 3 (SRPS3)
Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD)
Shprintzen-Goldberg craniosynostosis syndrome (SGS)
Shwachman-Diamond syndrome (SDS)
Sialidosis (SIALIDOSIS)
Sialuria (SIALURIA)
Sick sinus syndrome type 1 (SSS1)
Sick sinus syndrome type 2 (SSS2)
Simpson-Golabi-Behmel syndrome type 1 (SGBS1)
Sitosterolemia (SITOST)
Sjoegren-Larsson syndrome (SLS)
Skeletal defects genital hypoplasia and mental retardation (SGYMR)
Skin fragility-woolly hair syndrome (SFWHS)
Slowed nerve conduction velocity (SNCV)
Small patella syndrome (SPS)
Smith-Lemli-Opitz syndrome (SLOS)
Smith-McCort dysplasia (SMC)
Snowflake vitreoretinal degeneration (SVD)
Solitary median maxillary central incisor (SMMCI)
Sorsby fundus dystrophy (SFD)
Sotos syndrome (SOTOSS)
Spastic ataxia autosomal recessive type 4 (SPAX4)
Spastic ataxia Charlevoix-Saguenay type (SACS)
Spastic paraplegia autosomal dominant type 10 (SPG10)
Spastic paraplegia autosomal dominant type 13 (SPG13)
Spastic paraplegia autosomal dominant type 3 (SPG3)
Spastic paraplegia autosomal dominant type 31 (SPG31)
Spastic paraplegia autosomal dominant type 33 (SPG33)
Spastic paraplegia autosomal dominant type 4 (SPG4)
Spastic paraplegia autosomal dominant type 42 (SPG42)
Spastic paraplegia autosomal dominant type 6 (SPG6)
Spastic paraplegia autosomal dominant type 8 (SPG8)
Spastic paraplegia autosomal recessive type 11 (SPG11)
Spastic paraplegia autosomal recessive type 35 (SPG35)
Spastic paraplegia autosomal recessive type 39 (SPG39)
Spastic paraplegia autosomal recessive type 44 (SPG44)
Spastic paraplegia autosomal recessive type 5A (SPG5A)
Spastic paraplegia autosomal recessive type 7 (SPG7)
Spastic paraplegia type 17 (SPG17)
Spastic paraplegia X-linked type 1 (SPG1)
Spastic paraplegia X-linked type 2 (SPG2)
Speech-language disorder 1 (SPCH1)
Spherocytosis type 1 (SPH1)
Spherocytosis type 4 (SPH4)
Spherocytosis type 5 (SPH5)
Spheroid body myopathy (SBM)
Spinal muscular atrophy autosomal dominant Finkel type (SMAF)
Spinal muscular atrophy X-linked type 2 (SMAX2)
Spinocerebellar ataxia autosomal recessive type 1 (SCAR1)
Spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
Spinocerebellar ataxia autosomal recessive type 5 (SCAR5)
Spinocerebellar ataxia autosomal recessive type 9 (SCAR9)
Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1)
Spinocerebellar ataxia type 13 (SCA13)
Spinocerebellar ataxia type 14 (SCA14)
Spinocerebellar ataxia type 23 (SCA23)
Spinocerebellar ataxia type 27 (SCA27)
Spinocerebellar ataxia type 28 (SCA28)
Spinocerebellar ataxia type 5 (SCA5)
Spinocerebellar ataxia type 6 (SCA6)
Split-hand/foot malformation type 4 (SHFM4)
Split-hand/foot malformation type 6 (SHFM6)
Spondylocostal dysostosis type 1 (SCDO1)
Spondylocostal dysostosis type 3 (SCDO3)
Spondylocostal dysostosis type 4 (SCDO4)
Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN)
Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3)
Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO)
Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA)
Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL)
Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR)
Spondyloepiphyseal dysplasia congenital type (SEDC)
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD)
Spondylometaphyseal dysplasia Kozlowski type (SMDK)
Sporadic basal cell carcinoma (BCC)
Stargardt disease type 1 (STGD1)
Stargardt disease type 4 (STGD4)
Startle disease (STHE)
Startle disease with epilepsy (STHEE)
Steatocystoma multiplex (SM)
Stickler syndrome type 1 (STL1)
Stickler syndrome type 1 non-syndromic ocular (STL1O)
Stickler syndrome type 2 (STL2)
Stiff skin syndrome (SSKS)
Stueve-Wiedemann syndrome (SWS)
Subcortical band heterotopia (SBH)
Subcortical band heterotopia X-linked (SBHX)
Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency)
Sudden infant death syndrome (SIDS)
Sveinsson chorioretinal atrophy (SCRA)
Symphalangism proximal syndrome (SYM1)
Symptomatic deficiency in lactate transport (SDLT)
Syndactyly type 3 (SDTY3)
Syndactyly type 5
Synpolydactyly 1 (SPD1)
Systemic primary carnitine deficiency (CDSP)
Tarsal-carpal coalition syndrome (TCC)
Testicular tumors (TEST)
Tetralogy of Fallot (TOF)
Thanatophoric dysplasia type (TD)
The autosomal recessive cornea plana 2 (CNA2)
The etiology of non-insulin-dependent diabetes mellitus (NIDDM)
The Mitchell-Riley syndrome (MIRIS)
Thiamine-responsive megaloblastic anemia syndrome (TRMA)
Thiopurine S-methyltransferase deficiency (TPMT deficiency)
Thomsen disease (THD)
Thrombocytopenia type 1 (THC1)
Thrombocytopenia type 2 (THC2)
Thrombocytopenia type 4 (THC4)
Thrombophilia due to activated protein C resistance (THR-APCR)
Thrombophilia due to factor IX defect (THR-FIX)
Thrombophilia due to histidine-rich glycoprotein deficiency (THR-HRG)
Thrombophilia due to thrombomodulin defect (THR-THBDD)
Thrombotic thrombocytopenic purpura congenital (TTP)
Thyrotoxic hypokalemic periodic paralysis (TTPP2)
Thyroxine-binding globulin deficiency (TBG deficiency)
Tietz syndrome (TIETZS)
Timothy syndrome (TS)
Tooth agenesis selective type 1 (STHAG1)
Tooth agenesis selective type 3 (STHAG3)
Tooth agenesis selective X-linked type 1 (STHAGX1)
Torg-Winchester syndrome (TWS)
Total anomalous pulmonary venous return (TAPVR)
Transient bullous dermolysis of the newborn (TBDN)
Transient familial neonatal hyperbilirubinemia (TNHBB)
Transient neonatal diabetes mellitus type 1 (TNDM1)
Transient neonatal diabetes mellitus type 2 (TNDM2)
Transient neonatal diabetes mellitus type 3 (TNDM3)
Transposition of the great arteries, dextro-looped (DTGA)
Treacher Collins syndrome type 1 (TCS1)
Treacher Collins syndrome type 2 (TCS2)
Treacher Collins syndrome type 3 (TCS3)
Tricho-rhino-phalangeal syndrome type 1 (TRPS1)
Tricho-rhino-phalangeal syndrome type 3 (TRPS3)
Trichothiodystrophy non-photosensitive type 1 (TTDN1)
Trichothiodystrophy photosensitive (TTDP)
Trifunctional protein deficiency (TFP deficiency)
Trigonocephaly non-syndromic (TRICEPH)
Trimethylaminuria (TMAU)
Triosephosphate isomerase deficiency (TPI deficiency)
Trismus-pseudocamptodactyly syndrome (TPCS)
Tritan color blindness (tritanopia)
Tropical calcific pancreatitis (TCP)
True hermaphroditism (TRUHER)
Tuberous sclerosis type 1 (TSC1)
Tuberous sclerosis type 2 (TSC2)
Type 1 neurofibromatosis (NF1)
Type A1/B postaxial polydactyly (PAPA1/PAPB)
Type IIb congenital disorder of glycosylation (CDGIIb)
Tyrosinemia type 1 (TYRO1)
Tyrosinemia type 2 (TYRO2)
Tyrosinemia type 3 (TYRO3)
Ubiquitin-positive frontotemporal dementia (UP-FTD)
Ullrich congenital muscular dystrophy (UCMD)
Ulnar-mammary syndrome (UMS)
Urban-Rifkin-Davis syndrome (URDS)
Urocanase deficiency (UROD)
Usher syndrome type 1B (USH1B)
Usher syndrome type 1D (USH1D)
Usher syndrome type 1D/F (USH1DF)
Usher syndrome type 1F (USH1F)
Usher syndrome type 1G (USH1G)
Usher syndrome type 2A (USH2A)
Usher syndrome type 3 (USH3)
Van Buchem disease type 2 (VBCH2)
Van der Woude syndrome (VWS)
Variegate porphyria (VP)
Velocardiofacial syndrome (VCFS)
Ventricular fibrillation paroxysmal familial type 1 (VF1)
Vesicoureteral reflux type 2 (VUR2)
Visceral heterotaxy autosomal type 2 (HTX2)
Visceral heterotaxy autosomal type 4 (HTX4)
Visceral heterotaxy autosomal type 5 (HTX5)
Visceral heterotaxy X-linked type 1 (HTX1)
Vitelliform macular dystrophy type 2 (VMD2)
Vitreoretinochoroidopathy autosomal dominant (ADVIRC)
Vitreoretinopathy exudative type 1 (EVR1)
Vitreoretinopathy exudative type 2 (EVR2)
Vitreoretinopathy exudative type 4 (EVR4)
Vitreoretinopathy exudative type 5 (EVR5)
Vohwinkel syndrome (VS)
Von Hippel-Lindau disease (VHLD)
Von Willebrand disease platelet-type (PVWD)
Von Willebrand disease type 1 (VWD1)
Von Willebrand disease type 2 (VWD2)
Von Willebrand disease type 3 (VWD3)
Waardenburg syndrome type 1 (WS1)
Waardenburg syndrome type 2A (WS2A)
Waardenburg syndrome type 3 (WS3)
Waardenburg syndrome type 4 (WS4B)
Waardenburg syndrome type 4A (WS4A)
Wagner syndrome type 2 (WGN2)
Weaver syndrome (WES)
Weill-Marchesani syndrome autosomal recessive (ARWMS)
Weissenbacher-Zweymueller syndrome (WZS)
Werner syndrome (WRN)
White sponge nevus of cannon (WSN)
Wilms tumor 1 (WT1)
Wilson disease (WD)
Wiskott-Aldrich syndrome (WAS)
Wolcott-Rallison syndrome (WRS)
Wolff-Parkinson-White syndrome (WPWS)
Wolfram syndrome (WFS)
Wolman disease (WOD)
Woolly hair autosomal dominant (ADWH)
Woolly hair autosomal recessive type 1 (ARWH1)
Woolly hair autosomal recessive type 2 (ARWH2)
X-linked adrenal hypoplasia congenital (XL-AHC)
X-linked agammaglobulinemia (XLA)
X-linked Asperger syndrome 1 (ASPGX1)
X-linked cleft palate with ankyloglossia (CPX)
X-linked combined immunodeficiency (XCID)
X-linked creatine deficiency syndrome (XL-CDS)
X-linked dominant scapuloperoneal myopathy (SPM)
X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
X-linked familial atypical micobacteriosis type 1 (AMCBX1)
X-linked hypophosphatemic rickets (HYP)
X-linked immunodeficiency with hyper-IgM type 1 (HIGM1)
X-linked juvenile retinoschisis 1 (XLRS1)
X-linked Leigh syndrome (X-LS)
X-linked myopathy with postural muscle atrophy (XMPMA)
X-linked severe early-onset reducing body myopathy (RBM)
X-linked sideroblastic anemia with ataxia (ASAT)
X-linked thrombocytopenia with beta-thalassemia (XLTT)
Xanthinuria type 1 (XU1)
Xanthinuria type 2 (XU2)
Xeroderma pigmentosum complementation group A (XP-A)
Xeroderma pigmentosum complementation group B (XP-B)
Xeroderma pigmentosum complementation group C (XP-C)
Xeroderma pigmentosum complementation group D (XP-D)
Xeroderma pigmentosum complementation group E (XP-E)
Xeroderma pigmentosum complementation group F (XP-F)
Xeroderma pigmentosum complementation group G (XP-G)
Xeroderma pigmentosum variant type (XPV)
XFE progeroid syndrome (XFEPS)
Yemenite deaf-blind hypopigmentation syndrome (YDBHS)
Zellweger syndrome (ZwS)