PIPELINE IN ORPHAN DRUG PROJECT ( find rare diseases: www.geneticalliance.org.uk/find-support )

Acidemia, Methylmalonic / Acute Disseminated Encephalomyelitis (ADEM) / Adenoid Cystic Carcinoma / Agenesis of Corpus Callosum / Alexander Disease Alpha Thalassemia X-linked Intellectual Disability Syndrome / Alveolar Capillary Dysplasia (ACD) / Amyloidosis / Amyloidosis Education / Angioedema, Hereditary Education / Answering TTP / APS Type 1 / Arnold-Chiari Malformation / Arteriovenous Malformation / Ataxia, Hereditary / Atypical Hemolytic Uremic Syndrome (aHUS) / Autoimmune Hepatitis / Bartter's Syndrome / Beals Syndrome / Beckwith-Wiedemann Syndrome / Behcet's Syndrome / Best Vitelliform Macular Dystrophy / Binder Syndrome / Binswanger's Disease / Boston Marathon 2015 / Budd Chiari Syndrome / Bullous Pemphigoid / Carcinoma, Renal Cell / Cardio-Facio-Cutaneous Syndrome / Cat Eye Education / Cat Eye Syndrome / Central Nervous System Vasculitis / Chronic Inflammatory Demyelinating Polyneuropathy / Anti-MAG in Chronic Inflammatory Demyelinating Polyneuropathy / Cockayne Syndrome / Coffin Siris Syndrome / Congenital Hyperinsulinism (CHI) / Congenital Pulmonary Lymphangiectasia (CPL) / Corticobasal Degeneration / Craniosynostosis, Primary / Creutzfeldt Jakob Disease / Cri du Chat Syndrome / Crohn's Disease / Cystinosis / Cystinuria / Cutaneous T-cell Lymphoma (CTCL) / Dercum Disease / Dubowitz Syndrome / Ehlers Danlos Syndrome / Epidermolysis Bullosa / Epidermolysis Bullosa Acquisita / Erdheim Chester Disease / Erythema Nodosum / Erythromelalgia / Evans Syndrome / Fabry Disease / Familial Adenomatous Polyposis / Familial Idiopathic Basal Ganglia Calcification (Fahr's Disease) / Galactosemia / Gastroschisis / Giant Hypertropic Gastritis / Giant Hypertropic-Education / Glycogen Storage Diseases / Gorham's Disease / Guillain Barre Syndrome Education / HECW2 / Hemophagocytic lymphohistiocytosis / Hidradenitis Suppurativa / Homocystinuria due to Cystathionine Beta-Synthase Deficiency / Homozygous Familial Hypercholesterolemia (HoFH) / Hunter Syndrome (MPS II) / Hypoparathyroidism, General / Hypoparathyroidism, IPSC Research / IgA Nephropathy / Jarcho Levin Syndrome / Kawasaki Disease / KBG Syndrome / Kearns-Sayre Syndrome (KSS) / Larsen Syndrome / Laundau-Kleffner Syndrome / Leiomayosarcoma / Lesch-Nyhan Syndrome / Levy-Yeboa Syndrome / Lichen Sclerosis / Lymphangioleiomyomatosis (LAM) / Lysosomal Storage Diseases / Machado-Joseph's Disease / Majeed Syndrome / Malonic Aciduria / McCune Albright Syndrome / Medullary Sponge Kidney Disease / Medullary Thyroid Cancer Education / MELAS Syndrome / Mesothelioma / Mixed Connective Tissue Disorder (MCTD) / Moyamoya Syndrome / Multiple Myeloma / Multiple Sclerosis / Muscular Dystrophy, Duchenne / Mutliple System Atrophy (Shy-Drager Synd) / Myelofibrosis, Idiopathic / Nephrotic Syndrome / Neuroleptic Malignancy Syndrome / Neuromyelitis Optic / New-Onset Refractory Status Epilepticus (NORSE) / Non-Ketotic Hyperglycinemia / NTM (Nontuberculous Mycobacterial) Lung Infections / Olivopontocerebellar Atrophy, Hereditary / Ollier Disease / Opsoclonus-Myoclonus Syndrome / PACS1-Related Syndrome (Schuurs-Hoeijmakers Syndrome) / Pallister Hall Syndrome / Paroxysmal Nocturnal Hemoglobinuria (PNH) / Parry Romberg Syndrome / Pearson Marrow Pancreas Syndrome / Phenylketonuria / Pheochromocytoma / Pick Disease / Polycystic Kidney Diseases / Polycythemia Vera / Polymyositis / Pompe Disease Education / Pontocerebellar Hypoplasia / Porphyria / Potocki-Lupski Syndrome (PTLS) / Primary Ciliary Dyskinesia (Kartagener Synd.) / Primary Lateral Scl. Education / Primary Lateral Sclerosis / Primary Myelofibrosis / Primary Orthostatic Tremor / Primary Sclerosing Cholangitis / Progressive Multifocal Leukoencephalopathy (PML) / Progressive Supranuclear Palsy / Prune Belly Syndrome / Pseudomyxoma Peritonei / Psoriatic Arthritis / Purpura, Idiopathic Thrombocytopenic / Pyoderma Gangrenosum / Pyruvate Dehydrogenase Deficiency / Rare Action Network / Reflex Sympathetic Dystrophy Syndrome (RSDS) / Refractory Sprue / Rubinstein Taybi Syndrome / Russell Silver Syndrome (RSS / Scleroderma / Sialidosis / Sjogren's Syndrome / Spondylocostal Dysostosis (formerly Jarcho Levin Syndrome) / Stephanie Foster Educational Fund / Stiff Person Syndrome / STXBP1-Related Early Onset Encephalopathy / Susac Syndrome / Thalassemia Major / Thrombocythemia, Essential / Thrombotic Thrombocytopenic Purpura [TTP] / Tourette Syndrome / Toxic Epidermal Necrolysis (TEN) / Trimethylaminuria (TMAU) / Triploidy / Trisomy 13 Syndrome / Trisomy 18 Syndrome / Tyrosinemia, Hereditary (Danielle) / Tyrosinemia, Hereditary (Joshua) / Vitiligo / Von Hippel Lindau Disease / Wegener's Granulomatosis / Werdnig-Hoffmann Disease / West Syndrome / Wiedemann-Steiner Syndrome / Wilson's Disease /

11-beta-hydroxylase deficiency / 12q14 microdeletion syndrome / 15q11.2 microdeletion / 15q13.3 microdeletion syndrome / 15q24 microdeletion syndrome / 16p11.2 deletion syndrome / 16p13.11 microduplication syndrome / 16q24.3 microdeletion syndrome / 17-alpha-hydroxylase deficiency / 17-beta hydroxysteroid dehydrogenase 3 deficiency / 17q12 deletion syndrome / 17q12 duplication / 17q23.1q23.2 microdeletion syndrome / 18 Hydroxylase deficiency / 19p13.12 microdeletion syndrome / 1q21.1 microdeletion syndrome / 1q44 microdeletion syndrome / 2-methyl-3-hydroxybutyric aciduria / 2-methylbutyryl-CoA dehydrogenase deficiency / 20p12.3 microdeletion syndrome / 22q11.2 deletion syndrome / 22q11.2 duplication syndrome / 22q13.3 deletion syndrome / 2p15p16.1 microdeletion syndrome / 2q23.1 microdeletion syndrome / 2q37 deletion syndrome / 3 Methylcrotonyl-CoA carboxylase 1 deficiency / 3-alpha hydroxyacyl-CoA dehydrogenase deficiency / 3-beta-hydroxysteroid dehydrogenase deficiency / 3-Hydroxyisobutyric aciduria / 3-methylcrotonyl-CoA carboxylase deficiency / 3-methylglutaconyl-CoA hydratase deficiency (AUH defect) / 3M syndrome / 3MC syndrome / 3q29 microdeletion syndrome / 46,XX testicular disorder of sex development / 47 XXX syndrome / 47, XYY syndrome / 48,XXXY syndrome / 48,XYYY / 49, XXXYY syndrome / 49,XXXXX syndrome / 49,XXXXY syndrome / 5-alpha reductase deficiency / 5-oxoprolinase deficiency / 5q- syndrome / 5q14.3 microdeletion syndrome / 6-pyruvoyl-tetrahydropterin synthase deficiency / 7q11.23 duplication syndrome / 8p23.1 duplication syndrome / 8q12 microduplication syndrome / Aagenaes syndrome / Aarskog syndrome / Abdominal aortic aneurysm / Abetalipoproteinemia / Ablepharon macrostomia syndrome / Abruzzo-Erickson syndrome / Absence of fingerprints congenital milia / Absence of gluteal muscle / Absence of Tibia / Absence of tibia with polydactyly / Absent breasts and nipples / Absent patella / Acalvaria / Acanthosis nigricans - Not a rare disease / Acanthosis nigricans muscle cramps acral enlargement / Acardia / Acatalasemia / Accessory deep peroneal nerve / Accessory navicular bone - Not a rare disease / Accessory pancreas / Aceruloplasminemia / Achalasia microcephaly syndrome / Achard syndrome / Acheiropody / Achondrogenesis / Achondrogenesis type 1A / Achondrogenesis type 1B / Achondrogenesis type 2 / Achondroplasia / Achondroplasia and severe combined immunodeficiency / Achondroplasia and Swiss type agammaglobulinemia / Acitretin embryopathy / Ackerman syndrome / Acral dysostosis dyserythropoiesis syndrome / Acral peeling skin syndrome / Acro-pectoro-renal field defect / Acrocallosal syndrome, Schinzel type / Acrocapitofemoral dysplasia / Acrocephalopolydactylous dysplasia / Acrocephalopolydactyly / Acrodermatitis enteropathica / Acrodysostosis / Acrodysplasia scoliosis / Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia / Acrofacial dysostosis Catania type / Acrofacial dysostosis Palagonia type / Acrofacial dysostosis Rodriguez type / Acrofrontofacionasal dysostosis syndrome / Acrogeria, Gottron type / Acrokeratoelastoidosis of Costa / Acromegaloid facial appearance syndrome / Acromegaloid features, overgrowth, cleft palate and hernia / Acromegaloid hypertrichosis syndrome / Acromelic frontonasal dysostosis / Acromesomelic dysplasia Campailla Martinelli type / Acromesomelic dysplasia Hunter Thompson type / Acromesomelic dysplasia Maroteaux type / Acromicric dysplasia / Acroosteolysis dominant type / Acropectoral syndrome / Acropectorovertebral dysplasia F form / Acrorenal mandibular syndrome / ACTH-independent macronodular adrenal hyperplasia / Acute intermittent porphyria / Adactylia unilateral / Adams-Oliver syndrome / ADCY5-related dyskinesia / Addison's disease / Adenine phosphoribosyltransferase deficiency / Adenosine Deaminase 2 deficiency / Adenosine deaminase deficiency / Adenosine monophosphate deaminase 1 deficiency / Adenylosuccinase deficiency / Adermatoglyphia / Adolescent-onset dystonia of mixed type / Adrenomyeloneuropathy / Adrenomyodystrophy / Adult polyglucosan body disease / ADULT syndrome / Adult-onset citrullinemia type II / Adult-onset dystonia-parkinsonism / Adult-onset nemaline myopathy / Adult-onset vitelliform macular dystrophy / Advanced sleep phase syndrome, familial / Afibrinogenemia / Agammaglobulinemia, microcephaly, and severe dermatitis / Agammaglobulinemia, non-Bruton type / Agenesis of the dorsal pancreas / Agnathia-microstomia-synotia / Aicardi syndrome / Aicardi-Goutieres syndrome / Aicardi-Goutieres syndrome type 5 / Akesson syndrome / Al Gazali Aziz Salem syndrome / Al Gazali Khidr Prem Chandran syndrome / Al Gazali Sabrinathan Nair syndrome / Al Gazali syndrome / Al-Awadi-Raas-Rothschild syndrome / Al-Gazali-Donnai-Mueller syndrome / Alagille syndrome / Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus / Albinism / Albinism deafness syndrome / Albinism ocular late onset sensorineural deafness / Albinism, minimal pigment type / Albright's hereditary osteodystrophy / Alexander disease / ALG1-CDG (CDG-Ik) / ALG11-CDG (CDG-Ip) / ALG12-CDG (CDG-Ig) / ALG13-CDG / ALG2-CDG (CDG-Ii) / ALG3-CDG (CDG-Id) / ALG6-CDG (CDG-Ic) / ALG8-CDG (CDG-Ih) / ALG9-CDG (CDG-IL) / Alkaptonuria / Allain-Babin-Demarquez syndrome / Allan-Herndon-Dudley syndrome / Alopecia epilepsy oligophrenia syndrome of Moynahan / Alopecia intellectual disability syndrome 2 / Alopecia macular degeneration growth retardation / Alopecia totalis - Not a rare disease / Alopecia universalis / Alopecia universalis onychodystrophy vitiligo / Alopecia, epilepsy, pyorrhea, mental subnormality / Alopecia-contractures-dwarfism-intellectual disability syndrome / Alopecia-intellectual disability syndrome / Alpers syndrome / Alpha-1 antitrypsin deficiency / Alpha-ketoglutarate dehydrogenase deficiency / Alpha-mannosidosis / Alpha-thalassemia x-linked intellectual disability syndrome / Alport syndrome / Alström syndrome / Alternating hemiplegia of childhood / Alveolar capillary dysplasia / Amaurosis congenita cone-rod type with congenital hypertrichosis / Ambras syndrome / Amelogenesis imperfecta / Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1 / Amelogenesis imperfecta local hypoplastic / Amelogenesis imperfecta nephrocalcinosis / Ameloonychohypohidrotic syndrome / Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis / Aminoacylase 1 deficiency / Aminolevulinate dehydratase deficiency porphyria / Amish lethal microcephaly / Amish Nemaline Myopathy / Amniotic band syndrome / Amyloidosis corneal / Amyloidosis of gingiva and conjunctiva with intellectual disability / Amyotonia congenita / Anal sphincter dysplasia / Anauxetic dysplasia / Andermann syndrome / Andersen-Tawil syndrome / Anemia due to Adenosine triphosphatase deficiency / Anemia sideroblastic and spinocerebellar ataxia / Anencephaly / Aneurysm of sinus of Valsalva / Angel shaped phalangoepiphyseal dysplasia / Angelman syndrome / Angioma hereditary neurocutaneous / Angioma serpiginosum, autosomal dominant / Angioma serpiginosum, X-linked / Aniridia - ptosis - intellectual disability - familial obesity / Aniridia absent patella / Aniridia renal agenesis psychomotor retardation / Ankyloblepharon filiforme adnatum cleft palate / Ankyloblepharon filiforme imperforate anus / Ankylosing vertebral hyperostosis with tylosis / Ankylosis of teeth / Annular pancreas / Anodontia / Anomalous origin of right pulmonary artery familial / Anonychia ectrodactyly / Anonychia total with microcephaly / Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly / Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges / Anophthalmia plus syndrome / Anophthalmos with limb anomalies / Anorchia / Antecubital pterygium / Anterior segment dysgenesis / Antley Bixler syndrome / Aortic arch anomaly - peculiar facies - intellectual disability / Aortic coarctation / Aortopulmonary window / Apert syndrome / Aphalangia partial with syndactyly and duplication of metatarsal IV / Aplasia cutis congenita / Aplasia cutis congenita intestinal lymphangiectasia / Aplasia cutis congenita of limbs recessive / Arachnodactyly - intellectual disability - dysmorphism / Arachnoid cysts / AREDYLD / Arginase deficiency / Argininosuccinic aciduria / Arhinia choanal atresia microphthalmia / Aromatase deficiency / Aromatase excess syndrome / Aromatic L-amino acid decarboxylase deficiency / Arrhinia / Arterial calcification of infancy / Arterial tortuosity syndrome / Arthrochalasia Ehlers-Danlos syndrome / Arthrogryposis and ectodermal dysplasia / Arthrogryposis epileptic seizures migrational brain disorder / Arthrogryposis multiplex congenita neurogenic type / Arthrogryposis multiplex congenita whistling face / Arthrogryposis multiplex congenita, distal, X-linked / Arthrogryposis renal dysfunction cholestasis syndrome / Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay / Arthrogryposis-like hand anomaly and sensorineural deafness / Arts syndrome / Ascher Syndrome / Aspartylglycosaminuria / Asternia / Ataxia - hypogonadism - choroidal dystrophy / Ataxia telangiectasia / Ataxia with vitamin E deficiency / Ataxia-oculomotor apraxia type 1 / Ataxia-oculomotor apraxia type 4 / Atelosteogenesis type 1 / Atelosteogenesis type 2 / Atelosteogenesis type 3 / Athabaskan brainstem dysgenesis / Atkin syndrome / Atransferrinemia / Atresia of small intestine / Atrial myxoma, familial / Atrial septal defect coronary sinus / Atrial septal defect ostium primum / Atrial septal defect sinus venosus / Atypical Gaucher disease due to saposin C deficiency - See Gaucher disease / Atypical Rett syndrome / Atypical Werner syndrome / Auralcephalosyndactyly / Auriculo-condylar syndrome / Auriculoosteodysplasia / Ausems Wittebol-Post Hennekam syndrome / Autism with port-wine stain / Autoimmune lymphoproliferative syndrome / Autoimmune polyglandular syndrome type 1 / Autoimmune polyglandular syndrome type 2 / Autosomal dominant Alport syndrome / Autosomal dominant café au lait spots / Autosomal dominant centronuclear myopathy / Autosomal dominant cerebellar ataxia, deafness, and narcolepsy / Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons / Autosomal dominant deafness-onychodystrophy syndrome / Autosomal dominant hyper IgE syndrome / Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - See Autosomal dominant intermediate Charcot-Marie-Tooth / Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - See Autosomal dominant intermediate Charcot-Marie-Tooth / Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - See Autosomal dominant intermediate Charcot-Marie-Tooth / Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - See Autosomal dominant intermediate Charcot-Marie-Tooth / Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See Autosomal dominant intermediate Charcot-Marie-Tooth / Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - See Autosomal dominant intermediate Charcot-Marie-Tooth / Autosomal dominant multiple pterygium syndrome - See Distal arthrogryposis / Autosomal dominant neuronal ceroid lipofuscinosis 4B / Autosomal dominant nocturnal frontal lobe epilepsy / Autosomal dominant non-syndromic intellectual disability / Autosomal dominant optic atrophy and cataract / Autosomal dominant optic atrophy plus syndrome / Autosomal dominant palmoplantar keratoderma and congenital alopecia / Autosomal dominant partial epilepsy with auditory features / Autosomal dominant pseudohypoaldosteronism type 1 / Autosomal dominant spondyloepiphyseal dysplasia tarda / Autosomal dominant torsion dystonia-4 / Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related / Autosomal recessive Alport syndrome / Autosomal recessive axonal neuropathy with neuromyotonia / Autosomal recessive centronuclear myopathy / Autosomal recessive Charcot-Marie-Tooth disease with hoarseness / Autosomal recessive early-onset inflammatory bowel disease / Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - See Autosomal recessive intermediate Charcot-Marie-Tooth disease / Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease / Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis / Autosomal recessive palmoplantar keratoderma and congenital alopecia / Autosomal recessive polycystic kidney disease / Autosomal recessive primary microcephaly / Autosomal recessive protein C deficiency / Autosomal recessive pseudohypoaldosteronism type 1 / Autosomal recessive spastic ataxia 4 / Autosomal recessive spinocerebellar ataxia 9 / Axenfeld-Rieger syndrome / Axial mesodermal dysplasia spectrum / Axial spondylometaphyseal dysplasia / Ayazi syndrome / B4GALT1-CDG (CDG-IId) / Baetz-Greenwalt syndrome / Bagatelle Cassidy syndrome / Baller-Gerold syndrome / Bamforth syndrome / Bangstad syndrome / Banki syndrome / Bannayan-Riley-Ruvalcaba syndrome / Bantu siderosis / BAP1 tumor predisposition syndrome / Baraitser-Winter syndrome / Barakat syndrome / Barber Say syndrome / Bardet-Biedl syndrome / Bardet-Biedl syndrome 1 / Bardet-Biedl syndrome 10 / Bardet-Biedl syndrome 11 / Bardet-Biedl syndrome 12 / Bardet-Biedl syndrome 2 / Bardet-Biedl syndrome 3 / Bardet-Biedl syndrome 4 / Bare lymphocyte syndrome 2 / Barraquer-Simons syndrome / Barth syndrome / Bartter syndrome type 3 / Bartter syndrome type 4 / Battaglia-Neri syndrome / Bazex-Dupre-Christol syndrome / Beare-Stevenson cutis gyrata syndrome / Becker muscular dystrophy / Becker nevus syndrome / Beckwith-Wiedemann syndrome / Beemer Ertbruggen syndrome / Behr syndrome / Benallegue Lacete syndrome / Benign essential blepharospasm / Benign familial neonatal epilepsy / Benign familial neonatal-infantile seizures / Benign hereditary chorea / Berk-Tabatznik syndrome / Best vitelliform macular dystrophy / Beta ketothiolase deficiency / Beta-Propeller Protein-Associated Neurodegeneration / Bethlem myopathy / Beukes familial hip dysplasia / Biemond syndrome / Biemond syndrome 2 / Bietti crystalline corneoretinal dystrophy / Bifid nose / Bifid nose with or without anorectal and renal anomalies / Bilateral frontal polymicrogyria / Bilateral frontoparietal polymicrogyria / Bilateral generalized polymicrogyria / Bilateral parasagittal parieto-occipital polymicrogyria / Bilateral perisylvian polymicrogyria / Bile acid synthesis defect, congenital, 4 / Biliary atresia / Biotin-thiamine-responsive basal ganglia disease / Biotinidase deficiency / Birk-Barel syndrome / Birt-Hogg-Dube syndrome / Bixler Christian Gorlin syndrome / Bjornstad syndrome / Blau syndrome / Bleeding disorder due to P2RY12 defect / Blepharonasofacial malformation syndrome / Blepharophimosis with ptosis, syndactyly, and short stature / Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 / Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 / Blepharoptosis myopia ectopia lentis / Bloom syndrome / Blount disease / Blue cone monochromatism / Blue diaper syndrome / Blue rubber bleb nevus syndrome / BOD syndrome / Bohring-Opitz syndrome / Bone dysplasia Azouz type / Bone dysplasia lethal Holmgren type / Book syndrome / Boomerang dysplasia / BOR-Duane hydrocephalus contiguous gene syndrome / Borjeson-Forssman-Lehmann syndrome / Bork Stender Schmidt syndrome / Bowen-Conradi syndrome / Bowing of legs, anterior with dwarfism / Boylan Dew Greco syndrome / Brachial amelia, forebrain defects and facial clefts / Brachioskeletogenital syndrome / Brachycephalofrontonasal dysplasia / Brachydactylous dwarfism Mseleni type / Brachydactyly elbow wrist dysplasia / Brachydactyly long thumb type / Brachydactyly Mononen type / Brachydactyly preaxial with hallux varus and thumb abduction / Brachydactyly tibial hypoplasia / Brachydactyly type A1 / Brachydactyly type A2 / Brachydactyly type A3 / Brachydactyly type A4 / Brachydactyly type A5 / Brachydactyly type A6 / Brachydactyly type A7 / Brachydactyly type B / Brachydactyly type C / Brachydactyly type E / Brachydactyly types B and E combined / Brachydactyly with hypertension / Brachydactyly-mesomelia-intellectual disability-heart defects syndrome / Brachyolmia type 3 / Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia / Bradyopsia / Brain-lung-thyroid syndrome / Branchial arch syndrome X-linked / Branchiooculofacial syndrome / Branchiootic syndrome / Branchiootorenal syndrome / BRCA1 hereditary breast and ovarian cancer syndrome / BRCA2 hereditary breast and ovarian cancer syndrome / Brittle cornea syndrome / Brody myopathy / Bronchogenic cyst / Bronchopulmonary dysplasia / Brooks Wisniewski Brown syndrome / Bruck syndrome 1 / Bruck syndrome 2 / Brugada syndrome / Bullous dystrophy hereditary macular type / Buschke Ollendorff syndrome / C syndrome / C1q deficiency / Cabezas syndrome / CADASIL / Caffey disease / Calabro syndrome / Calloso-genital dysplasia / Camera Marugo Cohen syndrome / Campomelia Cumming type / Campomelic dysplasia / Camptobrachydactyly / Camptodactyly arthropathy coxa vara pericarditis syndrome / Camptodactyly syndrome Guadalajara type 1 / Camptodactyly syndrome Guadalajara type 2 / Camptodactyly syndrome Guadalajara type 3 / Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia / Camptodactyly, tall stature, and hearing loss syndrome / Camptodactyly-ichthyosis syndrome / Camptomelic syndrome long limb type / Camurati Engelmann disease, type 2 / Camurati-Engelmann disease / Canavan disease / Candidiasis familial chronic mucocutaneous, autosomal recessive / Cantu Sanchez-Corona Fragoso syndrome / Cantu syndrome / Cap myopathy / Carbamoyl phosphate synthetase 1 deficiency / Carbonic anhydrase VA deficiency / Cardiac valvular dysplasia, X-linked / Cardiac-Valvular Ehlers-Danlos syndrome / Cardioauditory syndrome of Sanchez Cascos / Cardiocranial syndrome / Cardioencephalomyopathy / Cardiofaciocutaneous syndrome / Cardiomelic syndrome Stratton Koehler type / Cardiomyopathy and deafness due to tRNA lysine gene mutation / Cardiomyopathy cataract hip spine disease / Cardiomyopathy dilated with woolly hair and keratoderma / Cardioskeletal syndrome Kuwaiti type / Carey-Fineman-Ziter syndrome / Carney complex / Carney triad / Carnitine palmitoyl transferase 1 deficiency / Carnitine palmitoyltransferase I deficiency , muscle / Carnitine-acylcarnitine translocase deficiency / Carnosinemia / Caroli disease / Carpenter syndrome / Carpotarsal osteochondromatosis / Cartilage-hair hypoplasia / Cat eye syndrome / Cataract ataxia deafness / Cataract congenital Volkmann type / Cataract microcornea syndrome / Cataract, total congenital / Cataract-microcephaly-failure to thrive-kyphoscoliosis / Cataracts, ataxia, short stature, and mental retardation / Catatrichy / Catecholaminergic polymorphic ventricular tachycardia / Catel Manzke syndrome / Caudal appendage deafness / Caudal regression syndrome / Central core disease / Cerebellar ataxia and hypogonadotropic hypogonadism / Cerebellar ataxia ectodermal dysplasia / Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss / Cerebellar hypoplasia / Cerebellar hypoplasia tapetoretinal degeneration / Cerebellar hypoplasia with endosteal sclerosis / Cerebelloparenchymal disorder 3 / Cerebellum agenesis hydrocephaly / Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy / Cerebral cavernous malformation - Not a rare disease / Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome / Cerebral folate deficiency / Cerebral gigantism jaw cysts / Cerebro-costo-mandibular syndrome / Cerebro-facio-articular syndrome / Cerebro-oculo-facio-skeletal syndrome / Cerebrocostomandibular-like syndrome / Cerebrooculonasal syndrome / Cerebrotendinous xanthomatosis / Ceroid lipofuscinosis neuronal 1 / Cerulean cataract / Cervical hypertrichosis peripheral neuropathy / Chanarin-Dorfman syndrome / Char syndrome / Charcot-Marie-Tooth disease type 1A / Charcot-Marie-Tooth disease type 1B - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 1C - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 1D - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 1E / Charcot-Marie-Tooth disease type 1F - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2B / Charcot-Marie-Tooth disease type 2B1 - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2B2 - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2D - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2E - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2F / Charcot-Marie-Tooth disease type 2G - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2H - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2I - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2J - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2K - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2P / Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 2R / Charcot-Marie-Tooth disease type 4A - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 4B1 - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 4B2 / Charcot-Marie-Tooth disease type 4C - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 4D - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 4E - See Charcot-Marie-Tooth disease / Charcot-Marie-Tooth disease type 4H - See Charcot-Marie-Tooth disease / CHARGE syndrome / Charlie M syndrome / Chediak-Higashi syndrome / Cherubism / Chiari malformation type 2 / Chiari malformation type 3 / CHILD syndrome / Childhood apraxia of speech / Childhood hypophosphatasia / Childhood-onset cerebral X-linked adrenoleukodystrophy / Childhood-onset nemaline myopathy / Chitayat Meunier Hodgkinson syndrome / Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome / Cholesteryl ester storage disease / Chondrocalcinosis 2 / Chondrodysplasia acromesomelic with genital anomalies / Chondrodysplasia Blomstrand type / Chondrodysplasia calcificans metaphysealis / Chondrodysplasia punctata 1, X-linked recessive / Chondrodysplasia punctata 2 X-linked dominant / Chondrodysplasia punctata Sheffield type / Chondrodysplasia with joint dislocations, GPAPP type / Chondrodysplasia, Grebe type / Chordoma / Chorea-acanthocytosis / Choroidal dystrophy central areolar / Choroideremia / Christianson syndrome / Chromosome 10p deletion / Chromosome 10p duplication / Chromosome 10q deletion / Chromosome 12p duplication / Chromosome 13q deletion / Chromosome 15, trisomy mosaicism / Chromosome 15q deletion / Chromosome 16 trisomy / Chromosome 16p13.3 deletion syndrome / Chromosome 16p13.3 duplication / Chromosome 17p duplication / Chromosome 17p13.1 deletion syndrome / Chromosome 17q deletion / Chromosome 17q11.2 deletion syndrome / Chromosome 18p deletion / Chromosome 18p duplication / Chromosome 18p tetrasomy / Chromosome 19q13.11 deletion syndrome / Chromosome 1p36 deletion syndrome / Chromosome 1q21.1 duplication syndrome / Chromosome 1q41-q42 deletion syndrome / Chromosome 21, uniparental disomy / Chromosome 21q deletion / Chromosome 2q24 microdeletion syndrome / Chromosome 3p- syndrome / Chromosome 3q29 microduplication syndrome / Chromosome 4p duplication / Chromosome 5p duplication / Chromosome 6q25 microdeletion syndrome / Chromosome 8p23.1 deletion / Chromosome 8q duplication / Chromosome 9p deletion / Chromosome Xq28 deletion syndrome / Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature / Chronic granulomatous disease / Chronic Infantile Neurological Cutaneous Articular syndrome / Chronic mucocutaneous candidiasis (CMC) - Not a rare disease / Chronic progressive external ophthalmoplegia / Chudley Rozdilsky syndrome / Chylomicron retention disease / Chylothorax, congenital / Chylous ascites / Clark-Baraitser syndrome / Clasped thumbs, congenital / Classical-like Ehlers-Danlos syndrome / Cleft hand absent tibia / Cleft palate short stature vertebral anomalies / Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss / Cleidocranial dysplasia / Cleidocranial dysplasia recessive form / Cleidorhizomelic syndrome / Clouston syndrome / CLOVES syndrome / COACH syndrome / COASY Protein-Associated Neurodegeneration / Coats disease / Cobb syndrome / Cockayne syndrome / Cockayne syndrome type I / Cockayne syndrome type II / Cockayne syndrome type III / CODAS syndrome / Coffin-Lowry syndrome / Coffin-Siris syndrome / COG1-CDG (CDG-IIg) / COG4-CDG (CDG-IIj) / COG5-CDG (CDG-IIi) / COG7-CDG (CDG-IIe) / COG8-CDG (CDG-IIh) / Cogan-Reese syndrome / Cohen syndrome / Cole Carpenter syndrome / Collins Pope syndrome / Coloboma of alar-nasal cartilages with telecanthus / Coloboma of macula / Coloboma of macula with type B brachydactyly / Colpocephaly / Combined oxidative phosphorylation deficiency 16 / Combined pituitary hormone deficiencies, genetic forms / Common variable immunodeficiency / Complement component 2 deficiency / Complete androgen insensitivity syndrome / Condensing osteitis of the clavicle / Conductive deafness with malformed external ear / Cone dystrophy / Cone-rod dystrophy / Cone-rod dystrophy 3 / Cone-rod dystrophy 5 / Cone-rod dystrophy 6 / Cone-rod dystrophy amelogenesis imperfecta / Cone-rod dystrophy X-linked 1 / Cone-rod dystrophy X-linked 2 / Cone-rod dystrophy X-linked 3 / Congenital absence of the sternocleidomastoid muscle / Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency / Congenital amegakaryocytic thrombocytopenia / Congenital analbuminemia / Congenital anosmia / Congenital bilateral absence of the vas deferens / Congenital bile acid synthesis defect, type 1 / Congenital bile acid synthesis defect, type 2 / Congenital central hypoventilation syndrome / Congenital chloride diarrhea / Congenital contractural arachnodactyly / Congenital cytomegalovirus / Congenital deafness with vitiligo and achalasia / Congenital diaphragmatic hernia / Congenital dyserythropoietic anemia type 1 / Congenital dyserythropoietic anemia type 2 / Congenital dyserythropoietic anemia type 3 / Congenital ectodermal dysplasia with hearing loss / Congenital erythropoietic porphyria / Congenital extrahepatic portosystemic shunt / Congenital fiber type disproportion / Congenital fibrosis of extraocular muscles / Congenital generalized lipodystrophy - Not a rare disease / Congenital generalized lipodystrophy type 2 / Congenital generalized lipodystrophy type 4 / Congenital heart block / Congenital hyperinsulinism / Congenital hypomyelination neuropathy / Congenital insensitivity to pain / Congenital insensitivity to pain with anhidrosis / Congenital intrauterine infection-like syndrome / Congenital lactase deficiency / Congenital laryngeal palsy / Congenital lipoid adrenal hyperplasia / Congenital lobar emphysema / Congenital microcoria / Congenital mirror movement disorder / Congenital muscular dystrophy due to LMNA mutation - See Congenital muscular dystrophy / Congenital muscular dystrophy type 1A / Congenital muscular dystrophy with integrin alpha-7 deficiency - See Congenital muscular dystrophy / Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B) / Congenital myasthenic syndrome associated with acetylcholine receptor deficiency / Congenital myasthenic syndrome with episodic apnea / Congenital nephrotic syndrome Finnish type / Congenital primary aphakia / Congenital pseudoarthrosis / Congenital pulmonary alveolar proteinosis / Congenital pulmonary lymphangiectasia / Congenital rubella / Congenital sucrase-isomaltase deficiency / Congenital toxoplasmosis - Not a rare disease / Congenital tracheal stenosis / Congenital tracheomalacia / Congenital varicella syndrome / Congenital vertical talus / Congenitally corrected transposition of the great arteries / Convulsions, benign familial infantile, 1 / Copper deficiency, familial benign / Cor triatriatum dexter / Cor triatriatum sinister / Corneal dystrophy and perceptive deafness / Corneal dystrophy Avellino type / Corneal dystrophy crystalline of Schnyder / Corneal dystrophy Thiel Behnke type / Corneal endothelial dystrophy type 2 / Corneal hypesthesia, familial / Cornelia de Lange syndrome / Corneodermatoosseous syndrome / Corpus callosum agenesis double urinary collecting / Cortical blindness-intellectual disability-polydactyly syndrome / Cortical defects wormian bones and dentinogenesis imperfecta / Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation / Corticobasal degeneration / Corticosteroid-binding globulin deficiency / Costello syndrome / Cousin syndrome / Cowden syndrome / Crandall syndrome / Crane-Heise syndrome / Craniodiaphyseal dysplasia / Cranioectodermal dysplasia / Craniofacial deafness hand syndrome / Craniofacial dysostosis with diaphyseal hyperplasia / Craniofacial dyssynostosis / Craniofrontonasal dysplasia / Craniometaphyseal dysplasia, autosomal dominant / Craniometaphyseal dysplasia, autosomal recessive type / Craniopharyngioma / Craniorachischisis / Craniosynostosis / Craniosynostosis, anal anomalies, and porokeratosis / Craniotelencephalic dysplasia / Cri du chat syndrome / Crigler Najjar syndrome, type 1 / Crigler Najjar syndrome, type 2 / Crisponi syndrome / Crome syndrome / Cronkhite-Canada disease / Crouzon syndrome / Crumpled helices and small mouth / Cryptomicrotia brachydactyly syndrome / Cryptophthalmos / Culler-Jones syndrome / Curly hair-acral keratoderma-caries syndrome / Currarino triad / Curry Jones syndrome / Cutis laxa, autosomal dominant / Cutis laxa, autosomal recessive type 1 / Cutis marmorata telangiectatica congenita / Cyclic neutropenia / Cylindrical spirals myopathy / Cyprus facial neuromusculoskeletal syndrome / Cystic fibrosis / Cystic hygroma / Cystic hygroma lethal cleft palate / Cystic medial necrosis of aorta / Cystinosis / Czech dysplasia metatarsal type / D ercole syndrome / D-2-hydroxyglutaric aciduria / D-bifunctional protein deficiency / D-glycericacidemia / Daentl Towsend Siegel syndrome / Dahlberg Borer Newcomer syndrome / Daish Hardman Lamont syndrome / Dandy-Walker complex / Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia / Dandy-Walker like malformation with atrioventricular septal defect / Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures / Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia / Dandy-Walker malformation with postaxial polydactyly / Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus / Daneman Davy Mancer syndrome / Danon disease / Darier disease / Dauwerse-Peters syndrome / Davenport Donlan syndrome / DCMA syndrome / DDOST-CDG (CDG-Ir) / De Barsy syndrome / De Sanctis-Cacchione syndrome / Deafness and myopia syndrome / Deafness conductive ptosis skeletal anomalies / Deafness enamel hypoplasia nail defects / Deafness hypogonadism syndrome / Deafness oligodontia syndrome / Deafness with labyrinthine aplasia microtia and microdontia (LAMM) / Deafness, autosomal dominant nonsyndromic sensorineural 17 / Deafness, autosomal dominant nonsyndromic sensorineural 22 / Deafness, autosomal dominant nonsyndromic sensorineural 23 / Deafness, autosomal dominant nonsyndromic sensorineural 24 / Deafness, autosomal dominant nonsyndromic sensorineural 3 / Deafness, autosomal dominant nonsyndromic sensorineural 53 / Deafness, autosomal recessive 51 / Deafness, dystonia, and cerebral hypomyelination / Deafness, epiphyseal dysplasia, short stature / Deafness, X-linked 2 / Deafness-infertility syndrome / Deafness-lymphedema-leukemia syndrome / Deficiency of interleukin-1 receptor antagonist / Degos 'en cocarde' erythrokeratoderma / Degos disease / Dehydrated hereditary stomatocytosis / Delayed membranous cranial ossification / Dementia familial British / Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency / Dense deposit disease / Dentatorubral-pallidoluysian atrophy / Dentin dysplasia sclerotic bones / Dentin dysplasia, coronal / Dentin dysplasia, type 1 / Dentinogenesis imperfecta / Dentinogenesis imperfecta type 2 / Dentinogenesis imperfecta type 3 / Denys-Drash syndrome / Dermatofibrosarcoma protuberans / Dermatoosteolysis Kirghizian type / Dermatopathia pigmentosa reticularis / Dermatosparaxis Ehlers-Danlos syndrome / Dermochondrocorneal dystrophy of François / Dermoodontodysplasia / Desbuquois syndrome / Desmoid tumor / Desmosterolosis / Devriendt syndrome / Dextrocardia / Dextrocardia with unusual facies and microphthalmia / DFNB1 / Diabetes insipidus nephrogenic mental retardation and intracerebral calcification / Diamond-Blackfan anemia / Diaphyseal medullary stenosis with malignant fibrous histiocytoma / Diastrophic dysplasia / Dicarboxylic aminoaciduria / Dihydrolipoamide dehydrogenase deficiency / Dihydropteridine reductase deficiency / Dihydropyrimidinase deficiency / Dihydropyrimidine dehydrogenase deficiency / Dilated cardiomyopathy / Dilated cardiomyopathy with hypergonadotropic hypogonadism / Diphallia / Diploid-triploid mosaicism / Disseminated superficial actinic porokeratosis / Distal arthrogryposis type 1 / Distal arthrogryposis type 5 / Distal arthrogryposis type 5D - See Distal arthrogryposis / Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies / Distal myopathy with vocal cord weakness / DK phocomelia syndrome / DOLK-CDG (CDG-Im) / Dominant dystrophic epidermolysis bullosa / Donnai-Barrow syndrome / DOOR syndrome / Dopa-responsive dystonia / Dopa-responsive dystonia; Segawa syndrome AD / Dopamine beta hydroxylase deficiency / Double inferior vena cava - Not a rare disease / Dowling-Degos disease / DPAGT1-CDG (CDG-Ij) / DPM1-CDG (CDG-Ie) / DPM2-CDG / DPM3-CDG (CDG-Io) / Drachtman Weinblatt Sitarz syndrome / Dravet syndrome / Duane syndrome / Duane syndrome type 1 / Duane syndrome type 2 / Duane syndrome type 3 / Duane-radial ray syndrome / Dubin-Johnson syndrome / Dubowitz syndrome / Duchenne muscular dystrophy / Duodenal atresia / Duplication of urethra / Dwarfism - Not a rare disease / Dwarfism familial with muscle spasms / Dwarfism Levi type / Dwarfism, low-birth-weight type with unresponsiveness to growth hormone / Dwarfism, proportionate with hip dislocation / Dyggve-Melchior-Clausen syndrome / Dykes Markes Harper syndrome / Dyschondrosteosis nephritis / Dyschromatosis symmetrica hereditaria 1 / Dysequilibrium syndrome / Dysfibrinogenemia / Dyskeratosis congenita / Dyskeratosis congenita autosomal dominant / Dyskeratosis congenita autosomal recessive / Dyskeratosis congenita X-linked / Dysosteosclerosis / Dysplasia epiphysealis hemimelica / Dyssegmental dysplasia and glaucoma / Dyssegmental dysplasia Rolland-Desbuquois type / Dyssegmental dysplasia Silverman-Handmaker type / Dystelephalangy / Dystonia 16 / Dystonia 2, torsion, autosomal recessive / Early Infantile Epileptic Encephalopathy / Early infantile epileptic encephalopathy 25 / Early-onset anterior polar cataract / Early-onset generalized dystonia / Early-onset parkinsonism-intellectual disability syndrome / Early-onset zonular cataract / Early-onset, autosomal dominant Alzheimer disease / Ebstein's anomaly / Ectodermal dysplasia / Ectodermal dysplasia skin fragility syndrome / Ectodermal dysplasia trichoodontoonychial type / Ectodermal dysplasia with natal teeth Turnpenny type / Ectodermal dysplasia, hidrotic, Christianson-Fourie type / Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features / Ectropion inferior cleft lip and or palate / EEC syndrome / EEM syndrome / Ehlers-Danlos syndrome, dysfibronectinemic type / Eisenmenger syndrome / Elastosis perforans serpiginosa / Ellis Yale Winter syndrome / Ellis-Van Creveld syndrome / Emanuel syndrome / Emery-Dreifuss muscular dystrophy, X-linked / Encephalocele / Encephalocraniocutaneous lipomatosis / Encephalomyopathy / Encephalopathy due to prosaposin deficiency - See Sphingolipidosis / Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration / Epidermodysplasia verruciformis / Epidermolysa bullosa simplex with muscular dystrophy / Epidermolysis bullosa simplex with mottled pigmentation / Epidermolysis bullosa simplex, Dowling-Meara type / Epidermolysis bullosa simplex, localized / Epidermolysis bullosa simplex, Ogna type / Epidermolysis bullosa, lethal acantholytic / Epidermolytic ichthyosis / Epidermolytic palmoplantar keratoderma / Epilepsy juvenile absence / Epiphyseal dysplasia hearing loss dysmorphism / Epiphyseal dysplasia multiple with early-onset diabetes mellitus / Episodic ataxia with nystagmus / Ermine phenotype / Erythroderma lethal congenital / Erythromelalgia / Erythropoietic protoporphyria / Erythropoietic uroporphyria associated with myeloid malignancy / Escher Hirt syndrome / Esophageal atresia / Ethylmalonic encephalopathy / Eunuchoidism familial hypogonadotropic / Exstrophy of the bladder / Fabry disease / FACES syndrome / Facial ectodermal dysplasia / Facial onset sensory and motor neuronopathy / Facio thoraco genital syndrome / Faciocardiorenal syndrome / Facioscapulohumeral muscular dystrophy / Factor V deficiency / Factor VII deficiency / Factor X deficiency / Factor XI deficiency / Factor XII deficiency / Factor XIII deficiency / Fallot complex with severe mental and growth retardation / Familial amyloidosis, Finnish type / Familial atrial fibrillation / Familial atypical multiple mole melanoma syndrome - Not a rare disease / Familial avascular necrosis of the femoral head / Familial bilateral striatal necrosis / Familial breast cancer - Not a rare disease / Familial caudal dysgenesis / Familial cold autoinflammatory syndrome / Familial congenital palsy of trochlear nerve / Familial cutaneous collagenoma / Familial cylindromatosis / Familial dilated cardiomyopathy / Familial Dupuytren contracture - Not a rare disease / Familial dysautonomia / Familial encephalopathy with neuroserpin inclusion bodies / Familial exudative vitreoretinopathy / Familial focal epilepsy with variable foci / Familial glucocorticoid deficiency / Familial HDL deficiency / Familial hemiplegic migraine / Familial hemiplegic migraine type 1 / Familial hemiplegic migraine type 2 / Familial hemiplegic migraine type 3 / Familial hyperaldosteronism type 2 / Familial hyperaldosteronism type III / Familial hyperthyroidism due to mutations in TSH receptor / Familial hypocalciuric hypercalcemia type 1 / Familial hypocalciuric hypercalcemia type 2 / Familial hypocalciuric hypercalcemia type 3 / Familial joint instability syndrome / Familial juvenile hyperuricaemic nephropathy / Familial LCAT deficiency / Familial lipoprotein lipase deficiency / Familial Mediterranean fever / Familial multiple lipomatosis / Familial osteochondritis dissecans / Familial pancreatic cancer / Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy / Familial partial lipodystrophy associated with PPARG mutations / Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy / Familial partial lipodystrophy type 2 / Familial partial lipodystrophy type Köbberling / Familial platelet disorder with associated myeloid malignancy / Familial porencephaly / Familial progressive cardiac conduction defect / Familial prostate cancer / Familial reactive perforating collagenosis / Familial thoracic aortic aneurysm and dissection / Familial thyroglossal duct cyst / Familial visceral myopathy with external ophthalmoplegia / Fanconi anemia / Fanconi Bickel syndrome / Farber's disease / Fatal familial insomnia / Fatty acid hydroxylase-associated neurodegeneration / Faye-Petersen-Ward-Carey syndrome / FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome / Feigenbaum Bergeron Richardson syndrome / Feingold syndrome / Femoral facial syndrome / Femur bifid with monodactylous ectrodactyly / Femur fibula ulna syndrome / Fertile eunuch syndrome / Fetal akinesia deformation sequence / Fetal aminopterin syndrome / Fetal cystic hygroma / Fetal hydantoin syndrome / Fetal methylmercury syndrome / Fetal retinoid syndrome / Fetal thalidomide syndrome / Fetal valproate syndrome / FG syndrome / FG syndrome 2 / FG syndrome 3 / Fibro-adipose vascular anomaly / Fibrochondrogenesis / Fibrodysplasia ossificans progressiva / Fibrous dysplasia / Fibular aplasia ectrodactyly / Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome / Fibular hypoplasia and complex brachydactyly / Filippi syndrome / Fine-Lubinsky syndrome / Fingerprint body myopathy / Fish-eye disease / Fitzsimmons syndrome / Fitzsimmons Walson Mellor syndrome / Fitzsimmons-Guilbert syndrome / Floating-Harbor syndrome / Florid cemento-osseous dysplasia / Flynn Aird syndrome / Focal cortical dysplasia of Taylor / Focal dermal hypoplasia / Focal facial dermal dysplasia / Focal segmental glomerulosclerosis / Follicle-stimulating hormone deficiency, isolated / Fountain syndrome / FOXG1 syndrome / Fragile X syndrome / Fragile XE syndrome / Frank Ter Haar syndrome / Fraser syndrome / Frasier syndrome / Free sialic acid storage disease / Freeman Sheldon syndrome / Frias syndrome / Friedreich ataxia / Frints De Smet Fabry Fryns syndrome / Frontofacionasal dysplasia / Frontometaphyseal dysplasia / Frontonasal dysplasia / Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia / Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - See Frontonasal dysplasia / Frontorhiny - See Frontonasal dysplasia / Frontotemporal dementia, ubiquitin-positive / Froster-Huch syndrome / Fructose-1,6-bisphosphatase deficiency / Fryns Hofkens Fabry syndrome / Fryns syndrome / Fuchs endothelial corneal dystrophy - Not a rare disease / Fucosidosis / Fuhrmann syndrome / Fukuyama type muscular dystrophy / Fumarase deficiency / Fused mandibular incisors / Galactokinase deficiency / Galactosemia / Galactosialidosis / Galloway-Mowat syndrome / Game Friedman Paradice syndrome / Gamma aminobutyric acid transaminase deficiency / Gamma-cystathionase deficiency / GAPO syndrome / Gardner syndrome / Garret Tripp syndrome / Gastrocutaneous syndrome / Gastrointestinal Stromal Tumors / Gastroschisis / GATAD2B-associated neurodevelopmental disorder / Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease / Gaucher disease perinatal lethal / Gaucher disease type 1 / Gaucher disease type 2 / Gaucher disease type 3 / Gay Feinmesser Cohen syndrome / Geleophysic dwarfism / Gemignani syndrome / Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa / Generalized pustular psoriasis / Genito palato cardiac syndrome / Genitopatellar syndrome / Genoa syndrome / Genochondromatosis / Genu valgum, st Helena familial / Genuine diffuse phlebectasia / Geroderma osteodysplastica / Gerstmann-Straussler-Scheinker disease / Gestational trophoblastic tumor / Ghosal hematodiaphyseal dysplasia syndrome / Ghose Sachdev Kumar syndrome / Giant axonal neuropathy / Giant congenital nevus / Giant platelet syndrome / Gillespie syndrome / Gingival fibromatosis with distinctive facies / Gingival fibromatosis with hypertrichosis / Gitelman syndrome / Glanzmann thrombasthenia / Glass-Chapman-Hockley syndrome / Glaucoma sleep apnea / Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome / Globozoospermia / Glomerulonephritis with sparse hair and telangiectases / Glomerulopathy with fibronectin deposits 1 / Glomerulopathy with fibronectin deposits 2 / Glucocorticoid-remediable aldosteronism / Glucose transporter type 1 deficiency syndrome / Glucose-galactose malabsorption / Glutamate formiminotransferase deficiency / Glutamine deficiency, congenital / Glutaric acidemia type I / Glutaric acidemia type II / Glutaric acidemia type III / Glutathionuria / Glycine N-methyltransferase deficiency / Glycogen storage disease type 0, liver / Glycogen storage disease type 12 / Glycogen storage disease type 13 / Glycogen storage disease type 1A / Glycogen storage disease type 1B / Glycogen storage disease type 3 / Glycogen storage disease type 4 / Glycogen storage disease type 5 / Glycogen storage disease type 6 / Glycogen storage disease type 7 / Glycoprotein VI deficiency / GM1 gangliosidosis type 1 / GM1 gangliosidosis type 2 / GM1 gangliosidosis type 3 / GM3 synthase deficiency / Goldberg-Shprintzen megacolon syndrome / Goldenhar disease / Goldmann-Favre syndrome / Gomez Lopez Hernandez syndrome / Goodman syndrome / Gordon syndrome / Gorham's disease / Gorlin Bushkell Jensen syndrome / Gorlin Chaudhry Moss syndrome / GOSR2-related progressive myoclonus ataxia / Gracile bone dysplasia / GRACILE syndrome / Graham Boyle Troxell syndrome / Graham-Cox syndrome / Graham-Little-Piccardi-Lassueur syndrome / Grant syndrome / Gray platelet syndrome / Greenberg dysplasia / Greig cephalopolysyndactyly syndrome / Griscelli syndrome type 1 / Griscelli syndrome type 2 / Griscelli syndrome type 3 / Groll Hirschowitz syndrome / Growth hormone insensitivity with immunodeficiency / Grubben de Cock Borghgraef syndrome / GTP cyclohydrolase I deficiency / Guanidinoacetate methyltransferase deficiency / Guizar Vasquez Sanchez Manzano syndrome / Gurrieri syndrome / Gyrate atrophy of choroid and retina / Hailey-Hailey disease / Haim-Munk syndrome / Hair defect-photosensitivity-intellectual disability syndrome / Hairy elbows / Halal syndrome / Hall-Riggs syndrome / Hallermann-Streiff syndrome / Hamanishi Ueba Tsuji syndrome / Hand and foot deformity with flat facies / Hand foot uterus syndrome / Hanhart syndrome / Hard skin syndrome Parana type / Hardikar syndrome / Harding ataxia / Harlequin ichthyosis / Harlequin syndrome / Harrod Doman Keele syndrome / Hartnup disease / Hawkinsinuria / Hay-Wells syndrome / Heart defect, tongue hamartoma and polysyndactyly / Heart-hand syndrome, Slovenian type / Heart-hand syndrome, Spanish type / HEC syndrome / Hemangioma thrombocytopenia syndrome / Hemangiomatosis, familial pulmonary capillary / Hemi 3 syndrome / Hemifacial hyperplasia strabismus / Hemifacial microsomia / Hemimegalencephaly / Hemiplegic migraine / Hemochromatosis type 2 / Hemochromatosis type 3 / Hemochromatosis type 4 / Hemoglobin C disease / Hemoglobin E disease / Hemoglobin SC disease / Hemoglobin SE disease - Not a rare disease / Hemophagocytic lymphohistiocytosis / Hennekam syndrome / Hepatic lipase deficiency / Hepatic venoocclusive disease with immunodeficiency / Hepatoerythropoietic porphyria / Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome / Hereditary antithrombin deficiency / Hereditary congenital facial paresis / Hereditary coproporphyria / Hereditary diffuse gastric cancer / Hereditary diffuse leukoencephalopathy with spheroids / Hereditary elliptocytosis / Hereditary endotheliopathy, retinopathy, nephropathy, and stroke / Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis / Hereditary folate malabsorption / Hereditary fructose intolerance / Hereditary geniospasm / Hereditary hemorrhagic telangiectasia / Hereditary hemorrhagic telangiectasia type 2 / Hereditary hemorrhagic telangiectasia type 3 / Hereditary hemorrhagic telangiectasia type 4 / Hereditary hyperekplexia / Hereditary koilonychia / Hereditary leiomyomatosis and renal cell cancer / Hereditary lymphedema type II / Hereditary methemoglobinemia / Hereditary motor and sensory neuropathy type 5 / Hereditary mucoepithelial dysplasia / Hereditary multiple osteochondromas / Hereditary neuralgic amyotrophy / Hereditary neuropathy with liability to pressure palsy / Hereditary pancreatitis / Hereditary paraganglioma-pheochromocytoma / Hereditary proximal myopathy with early respiratory failure - See Muscular dystrophy / Hereditary sensorimotor neuropathy with hyperelastic skin / Hereditary sensory and autonomic neuropathy type 1E / Hereditary sensory and autonomic neuropathy type 2 / Hereditary sensory and autonomic neuropathy type 7 / Hereditary sensory and autonomic neuropathy type V / Hereditary sensory neuropathy type 1 / Hereditary spherocytosis / Hereditary vascular retinopathy / Hermansky Pudlak syndrome 2 / Hermansky-Pudlak syndrome / Hernández-Aguirre Negrete syndrome / Herpes simplex encephalitis / Heterochromia iridis - Not a rare disease / Heterotaxy / HIBCH deficiency / High molecular weight kininogen deficiency / Hirschsprung disease polydactyly heart disease / Hirschsprung disease type d brachydactyly / Hirschsprung's disease / His bundle tachycardia / Histidinemia / Histiocytosis-lymphadenopathy plus syndrome / HMG CoA lyase deficiency / Holocarboxylase synthetase deficiency / Holoprosencephaly, recurrent infections, and monocytosis / Holt-Oram syndrome / Holzgreve syndrome / Homocarnosinosis / Homocystinuria due to CBS deficiency / Homocystinuria due to MTHFR deficiency / Horizontal gaze palsy with progressive scoliosis / Hoyeraal Hreidarsson syndrome / Hunter Carpenter Macdonald syndrome / Hunter Rudd Hoffmann syndrome / Hunter-McAlpine syndrome / Huntington disease / Hurler syndrome / Hurler–Scheie syndrome / Hutterite cerebroosteonephrodysplasia syndrome / Hyaline fibromatosis syndrome / Hydranencephaly / Hydrocephalus / Hydrocephalus due to congenital stenosis of aqueduct of sylvius / Hydrocephalus obesity hypogonadism / Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly / Hydrocephalus-cleft palate-joint contractures syndrome / Hydroxykynureninuria / Hyper-IgD syndrome / Hyperbetaalaninemia / Hyperbilirubinemia transient familial neonatal / Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency / Hyperferritinemia cataract syndrome / Hyperinsulinism due to glucokinase deficiency / Hyperinsulinism-hyperammonemia syndrome / Hyperkalemic periodic paralysis / Hyperkeratosis lenticularis perstans / Hyperlipidemia type 3 / Hyperlipoproteinemia type 5 / Hyperlysinemia / Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency / Hypermobile Ehlers-Danlos syndrome / Hyperostosis corticalis generalisata / Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus / Hyperparathyroidism-jaw tumor syndrome / Hyperphenylalaninemia due to dehydratase deficiency / Hyperprolinemia / Hyperprolinemia type 2 / Hypertelorism and tetralogy of Fallot / Hyperthermia induced defects / Hypertrichosis lanuginosa congenita / Hypertrophic neuropathy of Dejerine-Sottas / Hypertryptophanemia / Hypocalcemia, autosomal dominant / Hypochondroplasia / Hypofibrinogenemia, familial / Hypohidrotic ectodermal dysplasia autosomal recessive / Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia / Hypokalemic periodic paralysis / Hypomandibular faciocranial dysostosis / Hypomelanosis of Ito / Hypomyelination and congenital cataract / Hypomyelination with atrophy of basal ganglia and cerebellum / Hypoparathyroidism-intellectual disability-dysmorphism syndrome / Hypophosphatemic rickets / Hypoplastic left heart syndrome / Hypospadias familial / Hypospadias-intellectual disability, Goldblatt type syndrome / Hypotelorism cleft palate hypospadias / Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response / Hypotrichosis simplex / Hypotrichosis-lymphedema-telangiectasia syndrome / I cell disease / IBIDS syndrome - See Trichothiodystrophy / ICF syndrome / Ichthyosiform erythroderma, corneal involvement, deafness / Ichthyosis alopecia eclabion ectropion mental retardation / Ichthyosis bullosa of Siemens / Ichthyosis cheek eyebrow syndrome / Ichthyosis follicularis atrichia photophobia syndrome / Ichthyosis hystrix gravior / Ichthyosis hystrix, Curth Macklin type / Ichthyosis lamellar 1 / Ichthyosis lamellar 2 / Ichthyosis lamellar 3 / Ichthyosis lamellar, autosomal dominant / Ichthyosis prematurity syndrome / Ichthyosis tapered fingers midline groove up / Ichthyosis with hypotrichosis, autosomal recessive / Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis / Ichthyosis, mental retardation, dwarfism and renal impairment / Idiopathic basal ganglia calcification childhood-onset / Idiopathic CD4 positive T-lymphocytopenia / Iida Kannari syndrome / IL12RB1 deficiency / IMAGe syndrome / Imerslund-Grasbeck syndrome / Iminoglycinuria / Immune defect due to absence of thymus / Immunodeficiency with hyper IgM type 1 / Immunodeficiency with hyper IgM type 2 / Immunodeficiency with hyper IgM type 3 / Immunodeficiency with hyper IgM type 4 / Immunodeficiency with hyper IgM type 5 / Immunodysregulation, polyendocrinopathy and enteropathy X-linked / Imperforate oropharynx-costo vetebral anomalies / Inclusion body myopathy 2 / Inclusion body myopathy 3 / Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia / Incontinentia pigmenti / Infantile axonal neuropathy / Infantile cerebellar retinal degeneration / Infantile convulsions and paroxysmal choreoathetosis, familial / Infantile histiocytoid cardiomyopathy / Infantile liver failure syndrome 1 / Infantile myofibromatosis / Infantile neuroaxonal dystrophy / Infantile onset spinocerebellar ataxia / Infantile Parkinsonism-dystonia / Infantile spasms broad thumbs / Infantile-onset ascending hereditary spastic paralysis / Infection-induced acute encephalopathy 3 / Inherited hypoprothrombinemia / Iniencephaly / Insulin-like growth factor 1 resistance to / Insulin-like growth factor I deficiency / Insulin-resistance type B / Intellectual deficit - short stature - hypertelorism / Intellectual deficit Buenos-Aires type / Intellectual disability - athetosis - microphthalmia / Intellectual disability - hypoplastic corpus callosum - preauricular tag / Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity / Intellectual disability-developmental delay-contractures syndrome / Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome / Intellectual disability-severe speech delay-mild dysmorphism syndrome / Intermediate congenital nemaline myopathy / Intermediate severe Salla disease / Internal carotid agenesis / Intestinal atresia multiple / Intrauterine growth retardation with increased mitomycin C sensitivity / Intrinsic factor deficiency / IRAK-4 deficiency / Iridogoniodysgenesis and skeletal anomalies / Iris hypoplasia and glaucoma / Iron-refractory iron deficiency anemia / Irons Bhan syndrome / IRVAN syndrome / Isobutyryl-CoA dehydrogenase deficiency / Isodicentric chromosome 15 syndrome / Isolated ACTH deficiency / Isolated anterior cervical hypertrichosis / Isolated congenital megalocornea / Isolated ectopia lentis / Isolated growth hormone deficiency type 1A / Isolated growth hormone deficiency type 1B / Isolated growth hormone deficiency type 2 / Isolated growth hormone deficiency type 3 / Isotretinoin embryopathy like syndrome / Isovaleric acidemia / Ivemark syndrome / IVIC syndrome / Jackson-Weiss syndrome / Jacobsen syndrome / Jansen type metaphyseal chondrodysplasia / Jejunal atresia / Jejunal atresia with renal adysplasia / Jervell Lange-Nielsen syndrome / Jeune syndrome / Johanson-Blizzard syndrome / Johnson Munson syndrome / Johnson neuroectodermal syndrome / Johnston Aarons Schelley syndrome / Jones syndrome / Joubert syndrome / Joubert syndrome with oculorenal anomalies / Juberg Marsidi syndrome / Juberg-Hayward syndrome / Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa / Junctional epidermolysis bullosa, non-Herlitz type - See Epidermolysis bullosa / Juvenile amyotrophic lateral sclerosis / Juvenile osteoporosis / Juvenile Paget disease / Juvenile polyposis syndrome / Juvenile primary lateral sclerosis / Juvenile retinoschisis / Juvenile-onset dystonia / Kabuki syndrome / Kallmann syndrome / Kallmann syndrome 1 / Kallmann syndrome 2 / Kanzaki disease / Kaplan Plauchu Fitch syndrome / Kaposi sarcoma / Kaposiform Hemangioendothelioma / Kapur Toriello syndrome / Karak syndrome / Kartagener syndrome / Kaufman oculocerebrofacial syndrome / KBG syndrome / KCNQ2-Related Disorders / Kearns-Sayre syndrome / Kennedy disease / Kenny-Caffey syndrome type 1 / Kenny-Caffey syndrome type 2 / Keratitis, hereditary / Keratoderma palmoplantar deafness / Keratoderma palmoplantar spastic paralysis / Keratoderma palmoplantaris transgrediens / Keratolytic winter erythema / Keratosis follicularis dwarfism and cerebral atrophy / Keratosis follicularis spinulosa decalvans / Kernicterus / Keutel syndrome / KID syndrome / Kindler syndrome / King Denborough syndrome / Kleeblattschaedel syndrome / Kleine Levin syndrome / Kleiner Holmes syndrome / Klinefelter syndrome - Not a rare disease / Klippel Feil syndrome / Klippel-Trenaunay syndrome / Kniest dysplasia / Kniest like dysplasia lethal / Kniest-like dysplasia with pursed lips and ectopia lentis / Knobloch syndrome / Knuckle pads, leuconychia and sensorineural deafness / Kohlschutter Tonz syndrome / Koolen de Vries syndrome / Koone Rizzo Elias syndrome / Kosztolanyi syndrome / Kotzot-Richter syndrome / Kowarski syndrome / Kozlowski Warren Fisher syndrome / Kozlowski-Krajewska syndrome / Kuskokwim disease / Kyphomelic dysplasia / Kyphoscoliotic Ehlers-Danlos syndrome / L-2-hydroxyglutaric aciduria / L-arginine:glycine amidinotransferase deficiency / Laband syndrome / Lachiewicz Sibley syndrome / Lacrimo-auriculo-dento-digital syndrome / Lafora disease / Laing distal myopathy / Lambdoid synostosis / Lambert syndrome / Lamellar ichthyosis / Landau-Kleffner syndrome / Langer mesomelic dysplasia / Laron syndrome / Larsen syndrome / Larsen-like syndrome / Laryngomalacia / Laryngoonychocutaneous syndrome - See Epidermolysis bullosa / Larynx atresia / Larynx, congenital partial atresia of / Late-onset distal myopathy, Markesbery-Griggs type / Late-onset junctional epidermolysis bullosa - See Junctional epidermolysis bullosa / Late-onset retinal degeneration / Lateral meningocele syndrome / Lateral semicircular canal malformation, familial, with external and middle ear abnormalities / Lathosterolosis / Lattice corneal dystrophy type 1 / Laurence-Moon syndrome / Laurin-Sandrow syndrome / LCHAD deficiency / Le Marec Bracq Picaud syndrome / Leber congenital amaurosis / Leber congenital amaurosis 5 - See Leber congenital amaurosis / Leber hereditary optic neuropathy / Leber hereditary optic neuropathy with dystonia / Left ventricular noncompaction / Left-sided gallbladder / Legg-Calve-Perthes disease / Legius syndrome / Leigh syndrome / Leigh syndrome, French Canadian type / Leisti Hollister Rimoin syndrome / Lelis syndrome / Lennox-Gastaut syndrome / Lenz Majewski hyperostotic dwarfism / Lenz microphthalmia syndrome / LEOPARD syndrome / Leprechaunism / Leri pleonosteosis / Leri Weill dyschondrosteosis / Lesch Nyhan syndrome / Lethal chondrodysplasia Moerman type / Lethal chondrodysplasia Seller type / Lethal congenital contracture syndrome 1 / Lethal congenital contracture syndrome 2 / Lethal congenital contracture syndrome 3 - See Lethal congenital contracture syndrome / Lethal short limb skeletal dysplasia Al Gazali type / Leukocyte adhesion deficiency type 1 / Leukodystrophy / Leukodystrophy with oligodontia / Leukoencephalopathy - dystonia - motor neuropathy / Leukoencephalopathy palmoplantar keratoderma / Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation / Leukoencephalopathy with thalamus and brainstem involvement and high lactate / Leukoencephalopathy with vanishing white matter / Leukonychia totalis / Levic Stefanovic Nikolic syndrome / Levy-Yeboa syndrome / Lhermitte-Duclos disease / Li-Fraumeni syndrome / Lichtenstein syndrome / Liddle syndrome / Ligneous conjunctivitis / Limb deficiencies distal with micrognathia / Limb-body wall complex / Limb-girdle muscular dystrophy type 1A / Limb-girdle muscular dystrophy type 1B / Limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2A / Limb-girdle muscular dystrophy type 2B / Limb-girdle muscular dystrophy type 2E / Limb-girdle muscular dystrophy type 2F / Limb-girdle muscular dystrophy type 2H / Limb-girdle muscular dystrophy type 2I / Limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2L - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2P - See Limb-girdle muscular dystrophy type 1A / Limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy / Limb-girdle muscular dystrophy, type 2C / Limb-girdle muscular dystrophy, type 2D / Limb-girdle muscular dystrophy, type 2G / Limb-mammary syndrome / Lin-Gettig syndrome / Linear and whorled nevoid hypermelanosis / Linear nevus sebaceous syndrome / LIPE-related familial partial lipodystrophy - See Familial partial lipodystrophy / Lipedema - Not a rare disease / Lipodystrophy due to peptidic growth factors deficiency / Lipodystrophy, familial partial, type 5 - See Familial partial lipodystrophy / Lipoic acid synthetase deficiency / Lipoid proteinosis of Urbach and Wiethe / Lissencephaly 2 / Localized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa / Loeys-Dietz syndrome / Loeys-Dietz syndrome type 1 / Loeys-Dietz syndrome type 2 / Loeys-Dietz syndrome type 3 / Loeys-Dietz syndrome type 4 / Long QT syndrome 1 / Loose anagen hair syndrome / Lopes Gorlin syndrome / Lowe oculocerebrorenal syndrome / Lowry Maclean syndrome / Lowry Wood syndrome / Lubinsky syndrome / Lucey-Driscoll syndrome / Lujan syndrome / Lumbar malsegmentation short stature / Lung agenesis / Lymphangioleiomyomatosis / Lymphedema and cerebral arteriovenous anomaly / Lymphedema, microcephaly and chorioretinopathy syndrome / Lymphedema-distichiasis syndrome / Lynch syndrome - Not a rare disease / Lysinuric protein intolerance / Mac Dermot Winter syndrome / Macrocephaly mesodermal hamartoma spectrum / Macrocephaly, benign familial / Macrocephaly-short stature-paraplegia syndrome / Macrodactyly of the foot / Macrodactyly of the hand / Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance / Macroglossia / Macrosomia with lethal microphthalmia / Macrozoospermia / Macular dystrophy, corneal type 1 / Macules hereditary congenital hypopigmented and hyperpigmented / Madokoro Ohdo Sonoda syndrome / Maffucci syndrome / Majeed syndrome / Male pseudohermaphroditism due to defective LH molecule / Male pseudohermaphroditism intellectual disability syndrome, Verloes type / Malignant hyperthermia / Malignant hyperthermia arthrogryposis torticollis / Malignant hyperthermia susceptibility type 1 / Malignant hyperthermia susceptibility type 2 / Malignant hyperthermia susceptibility type 3 / Malignant hyperthermia susceptibility type 4 / Malignant hyperthermia susceptibility type 5 / Malignant hyperthermia susceptibility type 6 / Malignant migrating partial seizures of infancy / Malonyl-CoA decarboxylase deficiency / MAN1B1-CDG / Mandibuloacral dysplasia with type A lipodystrophy / Mandibuloacral dysplasia with type B lipodystrophy / Mandibulofacial dysostosis with microcephaly / Manitoba oculotrichoanal syndrome / Mannosidosis, beta A, lysosomal / Manouvrier syndrome / Marden Walker like syndrome / Marden-Walker syndrome / Marfan syndrome / Marie Unna congenital hypotrichosis / Marinesco-Sjogren syndrome / Marshall syndrome / Marshall-Smith syndrome / Martsolf syndrome / Mastocytosis cutaneous with short stature conductive hearing loss and microtia / Maternal hyperphenylalaninemia / Maternally inherited diabetes and deafness / Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 1 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 2 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 3 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 4 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 5 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 6 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 7 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 8 - See Maturity-onset diabetes of the young / Maturity-onset diabetes of the young, type 9 - See Maturity-onset diabetes of the young / Maxillonasal dysplasia, Binder type / McCune-Albright syndrome / McDonough syndrome / McKusick Kaufman syndrome / McLeod neuroacanthocytosis syndrome / McPherson Clemens syndrome / Meacham Winn Culler syndrome / Meckel syndrome / MECP2 duplication syndrome / Medeira-Dennis-Donnai syndrome / Median cleft of upper lip with polyps of facial skin and nasal mucosa / Median nodule of the upper lip / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Medrano Roldan syndrome / Medulloblastoma / Meesmann corneal dystrophy / Megacystis microcolon intestinal hypoperistalsis syndrome / Megaduodenum and/or megacystis / Megaepiphyseal dwarfism / Megalencephalic leukoencephalopathy with subcortical cysts / Megalencephaly-capillary malformation syndrome / Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome / Megaloblastic anemia due to dihydrofolate reductase deficiency / Megalocornea - spherophakia - secondary glaucoma / Megalocornea-intellectual disability syndrome / Megarbane Jalkh syndrome / Megarbane syndrome / Mehes syndrome / Mehta Lewis Patton syndrome / Meier-Gorlin syndrome / Meige syndrome / Meleda disease / Melnick-Needles syndrome / Melorheostosis / Melorheostosis with osteopoikilosis / Meningocele / Menkes disease / Mental retardation skeletal dysplasia abducens palsy / Mental retardation Smith Fineman Myers type / Mental retardation X-linked syndromic 7 / Mental retardation, keratoconus, febrile seizures, and sinoatrial block / Mental retardation, X-linked 14 / Mesomelia-synostoses syndrome / Mesomelic dwarfism cleft palate camptodactyly / Mesomelic dwarfism of hypoplastic tibia and radius type / Mesomelic dysplasia Kantaputra type / Mesomelic dysplasia Savarirayan type / Metacarpals 4 and 5 fusion / Metachondromatosis / Metaphyseal acroscyphodysplasia / Metaphyseal chondrodysplasia Schmid type / Metaphyseal chondrodysplasia Spahr type / Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome / Metaphyseal dysplasia maxillary hypoplasia brachydactyly / Metaphyseal dysplasia without hypotrichosis / Metaphyseal undermodeling, spondylar dysplasia, and overgrowth / Metatropic dysplasia / Methemoglobinemia, beta-globin type / Methimazole antenatal exposure / Methionine adenosyltransferase deficiency / Methylcobalamin deficiency cbl G type / Methylmalonic acidemia and homocysteinemia type cblX / Methylmalonic acidemia with homocystinuria type cblC / Methylmalonic acidemia with homocystinuria type cblD / Methylmalonic acidemia with homocystinuria type cblF / Methylmalonic acidemia with homocystinuria type cblJ / Methylmalonic aciduria, cblA type / Methylmalonic aciduria, cblB type / Mevalonic aciduria / MGAT2-CDG (CDG-IIa) / Michelin tire baby syndrome / Michels Caskey syndrome / Micro syndrome / Microbrachycephaly ptosis cleft lip / Microcephalic osteodysplastic primordial dwarfism type 1 / Microcephalic osteodysplastic primordial dwarfism type 2 / Microcephalic primordial dwarfism Toriello type / Microcephalic primordial dwarfism, Montreal type / Microcephaly autosomal dominant / Microcephaly brain defect spasticity hypernatremia / Microcephaly cervical spine fusion anomalies / Microcephaly deafness syndrome / Microcephaly glomerulonephritis Marfanoid habitus / Microcephaly microcornea syndrome Seemanova type / Microcephaly micropenis convulsions / Microcephaly microphthalmos blindness / Microcephaly nonsyndromal / Microcephaly, seizures, and developmental delay - See Early Infantile Epileptic Encephalopathy / Microcephaly-albinism-digital anomalies syndrome / Microcephaly-cardiomyopathy / Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome / Microcystic lymphatic malformation / Microduplication Xp11.22-p11.23 syndrome / Microgastria limb reduction defect / Microhydranencephaly / Microphthalmia associated with colobomatous cyst / Microphthalmia syndromic 10 / Microphthalmia syndromic 4 / Microphthalmia syndromic 5 / Microphthalmia syndromic 6 / Microphthalmia syndromic 8 / Microphthalmia syndromic 9 / Microphthalmia with linear skin defects syndrome / Microsomia hemifacial radial defects / Microtia eye coloboma and imperforation of the nasolacrimal duct / Microtia, meatal atresia and conductive deafness / Microtia-Anotia / Microvillus inclusion disease / Midphalangeal hair / Mild phenylketonuria / Miller syndrome / Miller-Dieker syndrome / Milner Khallouf Gibson syndrome / Milroy disease / Minicore myopathy with external ophthalmoplegia / Minicore myopathy, antenatal onset, with arthrogryposis / Mitochondrial complex I deficiency / Mitochondrial complex II deficiency / Mitochondrial complex III deficiency / Mitochondrial DNA-associated Leigh syndrome / Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes / Mitochondrial genetic disorders / Mitochondrial Membrane Protein-Associated Neurodegeneration / Mitochondrial myopathy with diabetes / Mitochondrial myopathy with lactic acidosis / Mitochondrial neurogastrointestinal encephalopathy syndrome / Mitochondrial trifunctional protein deficiency / Mitral atresia / Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones / Mitral valve prolapse, familial, autosomal dominant / Miyoshi myopathy / Moebius syndrome / MOGS-CDG (CDG-IIb) / Mohr-Tranebjaerg syndrome / Moloney syndrome / Molybdenum cofactor deficiency / MOMO syndrome / Monilethrix / Monoamine oxidase A deficiency / Morgagni-Stewart-Morel syndrome / MORM syndrome / Morning glory syndrome / Morse-Rawnsley-Sargent syndrome / Mosaic trisomy 14 / Mosaic trisomy 22 / Mosaic trisomy 8 / Mosaic trisomy 9 / Mosaic variegated aneuploidy syndrome / Mounier-Kuhn syndrome / Mousa Al din Al Nassar syndrome / Mowat-Wilson syndrome / Moyamoya disease / MPDU1-CDG (CDG-If) / MPI-CDG (CDG-Ib) / MPV17-related hepatocerebral mitochondrial DNA depletion syndrome / Muckle-Wells syndrome / Mucolipidosis III alpha/beta / Mucolipidosis type 4 / Mucopolysaccharidosis type III / Mucopolysaccharidosis type IIIA / Mucopolysaccharidosis type IIIB / Mucopolysaccharidosis type IIIC / Mucopolysaccharidosis type IIID / Mucopolysaccharidosis type IV / Mucopolysaccharidosis type IVA / Mucopolysaccharidosis type VII / Muenke Syndrome / Muir-Torre syndrome / Mulibrey Nanism / Muller Barth Menger syndrome / Multicentric carpotarsal osteolysis syndrome / Multicentric osteolysis nephropathy / Multicystic renal dysplasia, bilateral / Multiple congenital anomalies-hypotonia-seizures syndrome / Multiple congenital anomalies-hypotonia-seizures syndrome type 2 / Multiple endocrine neoplasia type 1 / Multiple endocrine neoplasia type 2A / Multiple endocrine neoplasia type 2B / Multiple epiphyseal dysplasia 1 / Multiple epiphyseal dysplasia 2 / Multiple epiphyseal dysplasia 3 / Multiple epiphyseal dysplasia 4 / Multiple epiphyseal dysplasia 5 / Multiple familial trichoepithelioma / Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma / Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma / Multiple fibrofolliculoma familial / Multiple pterygium syndrome Escobar type / Multiple pterygium syndrome lethal type / Multiple pterygium syndrome X-linked / Multiple sulfatase deficiency / Multiple symmetric lipomatosis / Multiple synostoses syndrome 1 / Multiple synostoses syndrome 2 / Multiple system atrophy / Multisystemic smooth muscle dysfunction syndrome / Mungan syndrome / MURCS association / Muscle eye brain disease / Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus / Muscular dystrophy white matter spongiosis / Muscular dystrophy, congenital, megaconial type / Muscular phosphorylase kinase deficiency / Musculocontractural Ehlers-Danlos syndrome / MYD88 deficiency / Myelocerebellar disorder / MYH7-related scapuloperoneal myopathy / Myhre syndrome / Myoclonic astatic epilepsy / Myoclonic epilepsy with ragged red fibers / Myoclonus cerebellar ataxia deafness / Myoclonus hereditary progressive distal muscular atrophy / Myoclonus-dystonia / Myoglobinuria recurrent / Myokymia with neonatal epilepsy / Myopathic carnitine deficiency / Myopathy with extrapyramidal signs / Myosin storage myopathy / Myotonia congenita / Myotonic dystrophy type 1 / Myotonic dystrophy type 2 / N syndrome / N-acetylglutamate synthase deficiency / Nablus mask-like facial syndrome / Naegeli syndrome / Nager acrofacial dysostosis / Naguib-Richieri-Costa syndrome / Nail dysplasia, isolated congenital / Nail-patella syndrome / Nakajo Nishimura syndrome / Nakajo syndrome / Nance-Horan syndrome / Nasodigitoacoustic syndrome / Nathalie syndrome / Native American myopathy / Naxos disease / Neonatal adrenoleukodystrophy / Neonatal hemochromatosis / Neonatal intrahepatic cholestasis caused by citrin deficiency / Neonatal progeroid syndrome / Neonatal severe hyperparathyroidism / Nephrogenic diabetes insipidus / Nephropathic cystinosis / Nephropathy, deafness, and hyperparathyroidism / Nestor-guillermo progeria syndrome / Netherton syndrome / Neu Laxova syndrome / Neural tube defects - Not a rare disease / Neurofaciodigitorenal syndrome / Neuroferritinopathy / Neurofibromatosis type 2 / Neurofibromatosis-Noonan syndrome / Neuronal ceroid lipofuscinosis 10 / Neuronal ceroid lipofuscinosis 2 / Neuronal ceroid lipofuscinosis 3 / Neuronal ceroid lipofuscinosis 5 / Neuronal ceroid lipofuscinosis 6 / Neuronal ceroid lipofuscinosis 7 / Neuronal ceroid lipofuscinosis 9 / Neuronal intranuclear inclusion disease / Neuropathy ataxia retinitis pigmentosa syndrome / Neuropathy, congenital, with arthrogryposis multiplex / Neuropathy, distal hereditary motor, Jerash type / Neuropathy, hereditary motor and sensory, Okinawa type / Neuropathy, hereditary motor and sensory, Russe type / Neutral lipid storage disease with myopathy / Neutrophil-specific granule deficiency / Nevoid basal cell carcinoma syndrome / Nevus comedonicus syndrome / Nguyen syndrome / Nicolaides-Baraitser syndrome / Niemann-Pick disease type A / Niemann-Pick disease type B / Niemann-Pick disease type C1 / Niemann-Pick disease type C2 / Nievergelt syndrome / Night blindness-skeletal anomalies-dysmorphism syndrome / Nijmegen breakage syndrome / Non-involuting congenital hemangioma / Nonbullous congenital ichthyosiform erythroderma / Nonspherocytic hemolytic anemia due to hexokinase deficiency / Nonsyndromic hereditary sensorineural hearing loss / Noonan syndrome / Noonan syndrome 1 - See Noonan syndrome / Noonan syndrome 2 - See Noonan syndrome / Noonan syndrome 3 - See Noonan syndrome / Noonan syndrome 4 - See Noonan syndrome / Noonan syndrome 5 - See Noonan syndrome / Noonan syndrome 6 - See Noonan syndrome / Noonan-like syndrome with loose anagen hair / Norrie disease / North Carolina macular dystrophy / Northern epilepsy / Not otherwise specified 3-MGA-uria type / Novak syndrome / Obesity due to congenital leptin deficiency / Occipital horn syndrome / Ochoa syndrome / Ocular albinism type 1 / Oculo skeletal renal syndrome / Oculoauriculofrontonasal syndrome / Oculocerebral syndrome with hypopigmentation / Oculocerebrocutaneous syndrome / Oculocutaneous albinism type 1 / Oculocutaneous albinism type 1B / Oculocutaneous albinism type 2 / Oculocutaneous albinism type 3 / Oculodentodigital dysplasia / Oculoectodermal syndrome / Oculofaciocardiodental syndrome / Oculomaxillofacial dysostosis / Oculomotor apraxia Cogan type / Oculopharyngeal muscular dystrophy / Oculopharyngodistal myopathy / Oculorenocerebellar syndrome / Odonto onycho dysplasia with alopecia / Odontoma dysphagia syndrome / Odontomicronychial dysplasia / Odontoonychodermal dysplasia / Oguchi disease / Okamoto syndrome / Oligodactyly tetramelic postaxial / Oligomeganephronic renal hypoplasia / Oliver syndrome / Olivopontocerebellar atrophy deafness / Ollier disease / Olmsted syndrome / Omenn syndrome / Omodysplasia 1 / Omodysplasia 2 / Omphalocele cleft palate syndrome lethal / Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex / Omphalomesenteric cyst / Onychodystrophy-anonychia / Onychotrichodysplasia and neutropenia / OPA3 defect / OPHN1 syndrome / Opsismodysplasia / Optic atrophy 1 / Optic atrophy 1 and deafness / Optic atrophy 2 / Optic atrophy polyneuropathy deafness / Ornithine transcarbamylase deficiency / Ornithine translocase deficiency syndrome / Orofaciodigital syndrome 1 / Orofaciodigital syndrome 10 / Orofaciodigital syndrome 11 / Orofaciodigital syndrome 12 / Orofaciodigital syndrome 13 / Orofaciodigital syndrome 2 / Orofaciodigital syndrome 3 / Orofaciodigital syndrome 4 / Orofaciodigital syndrome 5 / Orofaciodigital syndrome 8 / Orofaciodigital syndrome 9 / Orofaciodigital syndromes / Orotic aciduria type 1 / Orstavik Lindemann Solberg syndrome / Oslam syndrome / OSMED Syndrome / Ossicular Malformations, familial / Osteoarthropathy of fingers familial / Osteodysplasia familial Anderson type / Osteofibrous dysplasia / Osteogenesis imperfecta / Osteogenesis imperfecta Levin type / Osteogenesis imperfecta type I / Osteogenesis imperfecta type II / Osteogenesis imperfecta type III / Osteogenesis imperfecta type IV / Osteogenesis imperfecta type IX / Osteogenesis imperfecta type V / Osteogenesis imperfecta type VI / Osteogenesis imperfecta type VII / Osteogenesis imperfecta type VIII / Osteoglophonic dysplasia / Osteolysis syndrome recessive / Osteomesopyknosis / Osteopathia striata cranial sclerosis / Osteopathia striata with pigmentary dermopathy including white forelock / Osteopenia and sparse hair / Osteopetrosis / Osteopetrosis and infantile neuroaxonal dystrophy / Osteopetrosis autosomal dominant type 1 / Osteopetrosis autosomal dominant type 2 / Osteopetrosis autosomal recessive 1 / Osteopetrosis autosomal recessive 2 / Osteopetrosis autosomal recessive 3 / Osteopetrosis autosomal recessive 4 / Osteopetrosis autosomal recessive 5 / Osteopetrosis autosomal recessive 6 / Osteopetrosis autosomal recessive 7 / Osteopoikilosis and dacryocystitis / Osteoporosis oculocutaneous hypopigmentation syndrome / Osteoporosis-pseudoglioma syndrome / Ostium secundum atrial septal defect / Oto-palato-digital syndrome type 1 / Oto-palato-digital syndrome type 2 / Otodental dysplasia / Otofaciocervical syndrome / Otoonychoperoneal syndrome / Ouvrier Billson syndrome / Pachydermoperiostosis / Pachygyria / Pachygyria, frontotemporal / Pachygyria-intellectual disability-epilepsy syndrome / Pachyonychia congenita / Pacman dysplasia / PACS1-related syndrome / PAGOD syndrome / Pagon Stephan syndrome / Paine syndrome / Palant cleft palate syndrome / Palatopharyngeal incompetence / Pallidopyramidal syndrome / Pallister W syndrome / Pallister-Hall syndrome / Pallister-Killian mosaic syndrome / Palmer Pagon syndrome / Palmoplantar keratoderma-sclerodactyly syndrome / Pancreatic cancer - Not a rare disease / Panhypopituitarism X-linked / Panostotic fibrous dysplasia / Papillary renal cell carcinoma / Papillon Lefevre syndrome / Paraganglioma and gastric stromal sarcoma / Paramyotonia congenita / Parastremmatic dwarfism / PARC syndrome / Paris-Trousseau thrombocytopenia / Parkes Weber syndrome / Parkinson disease type 9 / Paroxysmal exertion-induced dyskinesia / Paroxysmal extreme pain disorder / Paroxysmal kinesigenic choreoathetosis / Paroxysmal nocturnal hemoglobinuria / Paroxysmal ventricular fibrillation / Paroxysomal nonkinesigenic dyskinesia / Partial androgen insensitivity syndrome / Partington syndrome / PASLI disease / Passos-Bueno syndrome / Paternal uniparental disomy of chromosome 14 / Patterson-Stevenson-Fontaine syndrome / PCDH19-related female-limited epilepsy / Pearson syndrome / Pectus carinatum / PEHO syndrome / Pelger-Huet anomaly / Pelvic dysplasia arthrogryposis of lower limbs / Pendred syndrome / Pentalogy of Cantrell / Pentosuria / Periodic fever, aphthous stomatitis, pharyngitis and adenitis / Periodontal Ehlers-Danlos syndrome / Peripheral resistance to thyroid hormones / Periventricular heterotopia / Perlman syndrome / Permanent neonatal diabetes mellitus / Peroxisomal biogenesis disorders / Perrault syndrome / Perry syndrome / Persistent Mullerian duct syndrome / Peters plus syndrome / Petit-Fryns syndrome / Peutz-Jeghers syndrome / Pfeiffer Mayer syndrome / Pfeiffer Palm Teller syndrome / Pfeiffer syndrome / Pfeiffer Tietze Welte syndrome / PGM1-CDG / PGM3-CDG / PHACE syndrome / PHAVER syndrome / Phenobarbital antenatal exposure / Pheochromocytoma / Phocomelia ectrodactyly deafness sinus arrhythmia / Phosphoglycerate kinase deficiency / Phosphoglycerate mutase deficiency / Phosphoserine aminotransferase deficiency / Piebaldism / Pierre Robin sequence / Pierre Robin sequence with pectus excavatum and rib and scapular anomalies / Pierson syndrome / Pili annulati / Pili torti / Pili torti developmental delay neurological abnormalities / Pillay syndrome / Pilodental dysplasia with refractive errors / Pinheiro Freire-Maia Miranda syndrome / Pitt-Hopkins syndrome / Pitt-Hopkins-like syndrome / Pituitary dwarfism with large sella turcica / Pituitary hormone deficiency, combined 3 / Pituitary hormone deficiency, combined 4 / Pituitary stalk interruption syndrome / Pityriasis rubra pilaris / Plagiocephaly / Plasminogen activator inhibitor type 1 deficiency / Platyspondylic lethal skeletal dysplasia Torrance type / PMM2-CDG (CDG-Ia) / Poikiloderma with neutropenia / Poland syndrome / Polycystic kidneys, severe infantile with tuberous sclerosis / Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy / Polycystic liver disease / Polydactyly / Polydactyly cleft lip palate psychomotor retardation / Polydactyly myopia syndrome / Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome / Polyosteolysis/hyperostosis syndrome / Polyostotic osteolytic dysplasia, hereditary expansile / Polysyndactyly cardiac malformation / Pontine tegmental cap dysplasia / Pontocerebellar hypoplasia type 1 / Pontocerebellar hypoplasia type 2 / Pontocerebellar hypoplasia type 3 / Pontocerebellar hypoplasia type 4 / Pontocerebellar hypoplasia type 5 / Pontocerebellar hypoplasia type 6 / Popliteal pterygium syndrome / Popliteal pterygium syndrome, Bartsocas-Papas type / Porokeratosis of Mibelli / Porokeratosis, disseminated superficial actinic 2 / Porphyria cutanea tarda / Posterior column ataxia with retinitis pigmentosa / Postnatal progressive microcephaly, seizures, and brain atrophy / Potassium aggravated myotonia / Potato nose / Potocki-Lupski syndrome / Potocki-Shaffer syndrome / Potter sequence / PPM-X syndrome / Prader-Willi habitus, osteopenia, and camptodactyly / Prader-Willi syndrome / Preaxial deficiency, postaxial polydactyly and hypospadias / Preaxial polydactyly type 1 / Preaxial polydactyly type 2 / Preaxial polydactyly type 4 / Prekallikrein deficiency, congenital / Pretibial epidermolysis bullosa / Primary angiitis of the central nervous system / Primary basilar impression / Primary carnitine deficiency / Primary ciliary dyskinesia / Primary familial and congenital polycythemia / Primary Familial Brain Calcification / Primary Fanconi syndrome / Primary hyperoxaluria type 1 / Primary hyperoxaluria type 2 / Primary hypomagnesemia with secondary hypocalcemia / Primary intestinal lymphangiectasia / Primary lateral sclerosis / Primary open angle glaucoma juvenile onset 1 / Primary pigmented nodular adrenocortical disease / Primrose syndrome / Progeria / Progeroid short stature with pigmented nevi / Progeroid syndrome Petty type / Prognathism mandibular / Progressive bifocal chorioretinal atrophy / Progressive deafness with stapes fixation / Progressive external ophthalmoplegia, autosomal recessive 1 / Progressive familial heart block type 1A / Progressive familial heart block type 1B / Progressive familial heart block type 2 / Progressive familial intrahepatic cholestasis 1 / Progressive familial intrahepatic cholestasis type 2 / Progressive familial intrahepatic cholestasis type 3 / Progressive non-fluent aphasia / Progressive osseous heteroplasia / Progressive pseudorheumatoid dysplasia / Prolidase deficiency / Proopiomelanocortin deficiency / Propionic acidemia / Protein C deficiency - Not a rare disease / Proteus syndrome / Proteus-like syndrome / Proud syndrome / Proximal chromosome 18q deletion syndrome / Proximal symphalangism / Prune belly syndrome / Pseudo Pelger-Huet anomaly / Pseudo-Von Willebrand disease / Pseudoachondroplasia / Pseudoaminopterin syndrome / Pseudocholinesterase deficiency / Pseudodiastrophic dysplasia / Pseudohypoaldosteronism type 2 / Pseudohypoparathyroidism type 1A / Pseudohypoparathyroidism type 1B / Pseudohypoparathyroidism type 1C / Pseudohypoparathyroidism type 2 / Pseudomarfanism / Pseudoneonatal adrenoleukodystrophy / Pseudoprogeria syndrome / Pseudopseudohypoparathyroidism / Pseudotrisomy 13 syndrome / Pseudoxanthoma elasticum / Pseudoxanthoma elasticum, forme fruste / Pterygium colli mental retardation digital anomalies / Ptosis strabismus ectopic pupils / Pulmonary alveolar microlithiasis / Pulmonary arterio-veinous fistula / Pulmonary atresia with intact ventricular septum / Pulmonary atresia with ventricular septal defect / Pulmonary vein stenosis / Pulmonary venoocclusive disease / Punctate palmoplantar keratoderma type 2 / Punctate palmoplantar keratoderma type I / Purine nucleoside phosphorylase deficiency / Pustulosis palmaris et plantaris / Pycnodysostosis / Pyknoachondrogenesis / Pyle disease / Pyogenic arthritis, pyoderma gangrenosum and acne / Pyridoxal 5'-phosphate-dependent epilepsy / Pyridoxine-dependent epilepsy / Pyropoikilocytosis hereditary / Pyruvate dehydrogenase phosphatase deficiency / Pyruvate kinase deficiency / Qazi Markouizos syndrome / Quebec platelet disorder / Rabson-Mendenhall syndrome / Radial defect Robin sequence / Radial hypoplasia, triphalangeal thumbs and hypospadias / Radial ray agenesis / Radial ray hypoplasia choanal atresia / Radio renal syndrome / Radioulnar synostosis-microcephaly-scoliosis syndrome / Radius absent anogenital anomalies / Raine syndrome / Ramon Syndrome / Ramos Arroyo Clark syndrome / Rapadilino syndrome / Rapid-onset dystonia-parkinsonism / Rapp-Hodgkin syndrome / Rasmussen Johnsen Thomsen syndrome / Reardon Wilson Cavanagh syndrome / Recessive dystrophic epidermolysis bullosa-generalized other / Recombinant chromosome 8 syndrome / Reducing body myopathy / Refsum disease / Refsum disease, infantile form / Renal agenesis / Renal coloboma syndrome / Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia / Renal dysplasia-limb defects syndrome / Renal glycosuria / Renal hypomagnesemia 2 / Renal hypomagnesemia-6 / Renal hypouricemia / Renal tubular acidosis with deafness / Renal tubular acidosis, distal, autosomal dominant / Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA / Renier Gabreels Jasper syndrome / Renpenning syndrome 1 / Reticular dysgenesis / Retinal arterial macroaneurysm with supravalvular pulmonic stenosis / Retinal cone dystrophy 1 / Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma / Retinal vasculopathy with cerebral leukodystrophy / Retinitis pigmentosa / Retinitis pigmentosa-deafness syndrome / Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome / Retinopathy pigmentary mental retardation / Rett syndrome / Revesz syndrome / RFT1-CDG (CDG-In) / Rh deficiency syndrome / Rhizomelic chondrodysplasia punctata type 1 / Rhizomelic chondrodysplasia punctata type 2 - See Rhizomelic chondrodysplasia punctata / Rhizomelic dysplasia Patterson Lowry type / Rhizomelic syndrome / RHYNS syndrome / Riboflavin transporter deficiency / Richards-Rundle syndrome / Richieri Costa Da Silva syndrome / Richieri Costa Pereira syndrome / Right ventricle hypoplasia / Rigid spine syndrome / Ring chromosome 1 / Ring chromosome 10 / Ring chromosome 12 / Ring chromosome 13 / Ring chromosome 14 / Ring chromosome 15 / Ring chromosome 16 / Ring chromosome 17 / Ring chromosome 18 / Ring chromosome 20 / Ring chromosome 21 / Ring chromosome 22 / Ring chromosome 4 / Ring chromosome 6 / Ring chromosome 7 / Ring chromosome 8 / Ring chromosome 9 / Rippling muscle disease / RNAse T2-deficient leukoencephalopathy / Roberts syndrome / Robinow syndrome / Roch-Leri mesosomatous lipomatosis / Rodrigues blindness / Roifman syndrome / Rokitansky sequence / Rokitansky-Aschoff sinuses of the gallbladder / Rombo syndrome / Rommen Mueller Sybert syndrome / Rothmund-Thomson syndrome / Rotor syndrome / Roussy Levy syndrome / Rozin Hertz Goodman syndrome / RRM2B-related mitochondrial DNA depletion syndrome / Rud Syndrome / Russell-Silver syndrome / Rutherfurd syndrome / Ruvalcaba syndrome / Ruzicka Goerz Anton syndrome / Sabinas brittle hair syndrome - See Trichothiodystrophy / Saccharopinuria / Sacral defect with anterior meningocele / Sacral hemangiomas multiple congenital abnormalities / Sacral meningocele conotruncal heart defects / Saethre-Chotzen syndrome / Saito Kuba Tsuruta syndrome / Sakati syndrome / Sakoda complex / Salcedo syndrome / Salla disease / Sarcosinemia / Satoyoshi syndrome / Saul Wilkes Stevenson syndrome / Say Barber Miller syndrome / Say Meyer syndrome / Say syndrome / Say-Field-Coldwell syndrome / Scalp defects postaxial polydactyly / Scalp ear nipple syndrome / Scapuloperoneal syndrome, neurogenic, Kaeser type / SCARF syndrome / Schaaf-Yang syndrome / Schaap Taylor Baraitser syndrome / Schaefer Stein Oshman syndrome / Scheie syndrome / Scheuermann disease / Schimke immunoosseous dysplasia / Schindler disease type 1 / Schinzel Giedion syndrome / Schisis association / Schizencephaly / Schneckenbecken dysplasia / Scholte syndrome / Schrander-Stumpel Theunissen Hulsmans syndrome / Schwannomatosis / Schwartz Jampel syndrome / Sclerosteosis / SCOT deficiency / Scott Bryant Graham syndrome / Scott syndrome / Sea-Blue histiocytosis / Seaver Cassidy syndrome / Sebaceous gland hyperplasia, familial presenile / Seckel like syndrome Majoor-Krakauer type / Seckel syndrome / Segmentation syndrome 1 / Selective IgM deficiency / Semantic dementia / Semmekrot Haraldsson Weemaes syndrome / Sengers syndrome / Senior Loken Syndrome / Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis / Sepiapterin reductase deficiency / Septo-optic dysplasia spectrum / Sequeiros Sack syndrome / Seres-Santamaria Arimany Muniz syndrome / SeSAME syndrome / SETBP1 disorder / Severe achondroplasia with developmental delay and acanthosis nigricans / Severe combined immunodeficiency / Severe combined immunodeficiency due to complete RAG1/2 deficiency / Severe congenital nemaline myopathy / Severe congenital neutropenia autosomal recessive 3 / Severe congenital neutropenia X-linked / Severe generalized recessive dystrophic epidermolysis bullosa / Severe intellectual disability-progressive spastic diplegia syndrome / Severe X-linked intellectual disability, Gustavson type / Sheldon-Hall syndrome / Short limb dwarf lethal Colavita Kozlowski type / Short rib-polydactyly syndrome type 3 / Short rib-polydactyly syndrome type 1 / Short rib-polydactyly syndrome type 2 / Short rib-polydactyly syndrome type 4 / Short stature deafness neutrophil dysfunction / Short stature syndrome, Brussels type / Short stature wormian bones dextrocardia / Short stature-craniofacial anomalies-genital hypoplasia syndrome / SHORT syndrome / Short-chain acyl-CoA dehydrogenase deficiency / Shoulder girdle defect mental retardation familial / Shprintzen omphalocele syndrome / Shprintzen-Goldberg craniosynostosis syndrome / Shwachman-Diamond syndrome / Sialidosis type I / Sialidosis, type II / Sialuria, French type / Sickle beta thalassemia / Sickle cell - hemoglobin D disease / Sickle cell anemia / Sideroblastic anemia and mitochondrial myopathy / Siegler Brewer Carey syndrome / Silengo Lerone Pelizza syndrome / Sillence syndrome / Simosa cranio facial syndrome / Simpson-Golabi-Behmel syndrome / Single upper central incisor / Singleton-Merten syndrome / Sirenomelia / Sitosterolemia / Situs inversus / Situs inversus totalis with cystic dysplasia of kidneys and pancreas / Sjogren-Larsson syndrome / Skeletal dysplasia, San Diego type / Skeletal dysplasias - Not a rare disease / Skin fragility-woolly hair-palmoplantar keratoderma syndrome / SLC35A1-CDG (CDG-IIf) / SLC35A2-CDG / SLC35C1-CDG (CDG-IIc) / Slow-channel congenital myasthenic syndrome / Small patella syndrome / Smith McCort dysplasia / Smith-Lemli-Opitz syndrome / Smith-Magenis syndrome / Sneddon syndrome / Snowflake vitreoretinal degeneration / Snyder-Robinson syndrome / Sonoda syndrome / Sotos syndrome / Spasmodic dysphonia / Spastic ataxia Charlevoix-Saguenay type / Spastic paraplegia 1 / Spastic paraplegia 10 / Spastic paraplegia 11 / Spastic paraplegia 12 / Spastic paraplegia 13 / Spastic paraplegia 14 / Spastic paraplegia 15 / Spastic paraplegia 16 / Spastic paraplegia 17 / Spastic paraplegia 18 / Spastic paraplegia 19 / Spastic paraplegia 2 / Spastic paraplegia 23 / Spastic paraplegia 24 / Spastic paraplegia 25 / Spastic paraplegia 26 / Spastic paraplegia 29 / Spastic paraplegia 3 / Spastic paraplegia 31 / Spastic paraplegia 32 / Spastic paraplegia 4 / Spastic paraplegia 51 / Spastic paraplegia 5A / Spastic paraplegia 6 / Spastic paraplegia 7 / Spastic paraplegia 8 / Spastic paraplegia 9 / Spastic paraplegia facial cutaneous lesions / Spastic paraplegia-epilepsy-intellectual disability syndrome / Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome / Specific antibody deficiency / Spina bifida / Spinal atrophy ophthalmoplegia pyramidal syndrome / Spinal muscular atrophy 1 / Spinal muscular atrophy type 2 / Spinal muscular atrophy type 3 / Spinocerebellar ataxia 1 / Spinocerebellar ataxia 10 / Spinocerebellar ataxia 11 / Spinocerebellar ataxia 12 / Spinocerebellar ataxia 13 / Spinocerebellar ataxia 14 / Spinocerebellar ataxia 15 / Spinocerebellar ataxia 17 / Spinocerebellar ataxia 18 / Spinocerebellar ataxia 19 and 22 / Spinocerebellar ataxia 2 / Spinocerebellar ataxia 20 / Spinocerebellar ataxia 21 / Spinocerebellar ataxia 23 / Spinocerebellar ataxia 25 / Spinocerebellar ataxia 26 / Spinocerebellar ataxia 27 / Spinocerebellar ataxia 28 / Spinocerebellar ataxia 29 / Spinocerebellar ataxia 31 / Spinocerebellar ataxia 34 / Spinocerebellar ataxia 4 / Spinocerebellar ataxia 5 / Spinocerebellar ataxia 7 / Spinocerebellar ataxia 8 / Spinocerebellar ataxia autosomal recessive 3 / Spinocerebellar ataxia autosomal recessive 4 / Spinocerebellar ataxia autosomal recessive 5 / Spinocerebellar ataxia autosomal recessive 7 / Spinocerebellar ataxia autosomal recessive 8 / Spinocerebellar ataxia autosomal recessive with axonal neuropathy / Spinocerebellar ataxia type 6 / Spinocerebellar ataxia with axonal neuropathy type 2 / Spinocerebellar ataxia with dysmorphism / Spinocerebellar ataxia X-linked type 3 / Spinocerebellar ataxia X-linked type 4 / Spinocerebellar degeneration and corneal dystrophy / Splenogonadal fusion limb defects micrognatia / Split hand foot malformation / Split hand foot malformation 1 / Split hand split foot nystagmus / Split hand urinary anomalies spina bifida / Split spinal cord malformation / Spondylocamptodactyly / Spondylocarpotarsal synostosis syndrome / Spondylocostal dysostosis 1 - See Spondylocostal dysostosis / Spondylocostal dysostosis 2 - See Spondylocostal dysostosis / Spondylocostal dysostosis 3 - See Spondylocostal dysostosis / Spondylocostal dysostosis 4 - See Spondylocostal dysostosis / Spondylocostal dysostosis 5 - See Spondylocostal dysostosis / Spondylocostal dysostosis 6 - See Spondylocostal dysostosis / Spondylodysplastic Ehlers-Danlos syndrome / Spondyloenchondrodysplasia / Spondyloepimetaphyseal dysplasia Genevieve type / Spondyloepimetaphyseal dysplasia joint laxity / Spondyloepimetaphyseal dysplasia Matrilin-3 related / Spondyloepimetaphyseal dysplasia micromelic / Spondyloepimetaphyseal dysplasia Missouri type / Spondyloepimetaphyseal dysplasia Shohat type / Spondyloepimetaphyseal dysplasia Sponastrime type / Spondyloepimetaphyseal dysplasia Strudwick type / Spondyloepimetaphyseal dysplasia with hypotrichosis / Spondyloepimetaphyseal dysplasia with multiple dislocations / Spondyloepimetaphyseal dysplasia X-linked / Spondyloepimetaphyseal dysplasia x-linked with mental deterioration / Spondyloepimetaphyseal dysplasia, Aggrecan type / Spondyloepiphyseal dysplasia congenita / Spondyloepiphyseal dysplasia Maroteaux type / Spondyloepiphyseal dysplasia tarda X-linked / Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech / Spondylometaepiphyseal dysplasia short limb-hand type / Spondylometaphyseal dysplasia Algerian type / Spondylometaphyseal dysplasia corner fracture type / Spondylometaphyseal dysplasia East-African type / Spondylometaphyseal dysplasia Sedaghatian type / Spondylometaphyseal dysplasia type A4 / Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism / Spondylometaphyseal dysplasia with cone-rod dystrophy / Spondylometaphyseal dysplasia with dentinogenesis imperfecta / Spondylometaphyseal dysplasia X-linked / Spondylometaphyseal dysplasia, Kozlowski type / Spondyloperipheral dysplasia / Spondylospinal thoracic dysostosis / Spondylothoracic dysostosis / Sprengel deformity / SRD5A3-CDG (CDG-Iq) / SSR4-CDG / Stalker Chitayat syndrome / STAR syndrome / Stargardt disease / Steatocystoma multiplex / Steatocystoma multiplex with natal teeth / Steinfeld syndrome / Sternal cleft / Stickler syndrome / Stickler syndrome type 1 / Stickler syndrome, type 2 / Stickler syndrome, type 3 / Stiff person syndrome / Stiff skin syndrome / Stocco dos Santos syndrome / Stomatocytosis I / Striatonigral degeneration infantile / Sturge-Weber syndrome / Stuve-Wiedemann syndrome / Subaortic stenosis short stature syndrome / Subcortical band heterotopia / Succinic semialdehyde dehydrogenase deficiency / Sudden infant death with dysgenesis of the testes syndrome / Sugarman brachydactyly / Summitt syndrome / Supernumerary nipple - Not a rare disease / Supraumbilical midabdominal raphe and facial cavernous hemangiomas / Supravalvular aortic stenosis / Swyer syndrome / Symphalangism with multiple anomalies of hands and feet / Syndactyly Cenani Lenz type / Syndactyly type 1 / Syndactyly type 3 / Syndactyly type 5 / Syndactyly type 9 / Syndactyly-polydactyly-earlobe syndrome / Syndromic microphthalmia, type 3 / Syngnathia cleft palate / Syngnathia multiple anomalies / Synovial chondromatosis, familial with dwarfism / Syringomyelia / Tabatznik syndrome / Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals / Talonavicular coalition / Tangier disease / TAR syndrome / Tardive dyskinesia - Not a rare disease / TARP syndrome / Tarsal carpal coalition syndrome / Taurodontia, absent teeth, sparse hair syndrome / Taurodontism / Taurodontism, microdontia, and dens invaginatus / Teebi Kaurah syndrome / Teebi Naguib Al Awadi syndrome / Teebi Shaltout syndrome / Teeth noneruption of with maxillary hypoplasia and genu valgum / Tel Hashomer camptodactyly syndrome / Telfer Sugar Jaeger syndrome / Temporal epilepsy, familial / Temtamy preaxial brachydactyly syndrome / Temtamy syndrome / Tendons, extensor, of fingers, anomalous insertion of / Testotoxicosis / Tethered cord syndrome / Tetra-amelia syndrome / Tetraamelia multiple malformations X-linked / Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities / Tetraamelia with pulmonary hypoplasia / Tetralogy of Fallot / Tetralogy of fallot and glaucoma / Tetramelic monodactyly / Tetraploidy / Tetrasomy 21 / Tetrasomy 9p / Tetrasomy X / Thai symphalangism syndrome / Thakker-Donnai syndrome / Thanatophoric dysplasia type 1 / Thanatophoric dysplasia type 2 / Thiamine responsive megaloblastic anemia syndrome / Thiopurine S methyltranferase deficiency / Thomas syndrome / Thompson Baraitser syndrome / Thoracic dysplasia hydrocephalus syndrome / Thoraco abdominal enteric duplication / Thoracolaryngopelvic dysplasia / Thoracomelic dysplasia / Thrombocytopathy asplenia miosis / Thrombotic thrombocytopenic purpura, congenital / Thumb deformity / Thumb deformity, alopecia, pigmentation anomaly / Thumb stiff brachydactyly mental retardation / Thymic-Renal-Anal-Lung dysplasia / Thyroid dysgenesis / Tibia absent polydactyly arachnoid cyst / Tietz syndrome / Tight skin contracture syndrome, lethal / Timothy syndrome / TMEM165-CDG (CDG-IIk) / Tollner Horst Manzke syndrome / Tolosa Hunt syndrome / Tonoki syndrome / Torg Winchester syndrome / Toriello-Carey syndrome / Torticollis keloids cryptorchidism renal dysplasia / Torticollis, familial / Total Hypotrichosis, Mari type / Townes-Brocks syndrome / Tracheal agenesis / Tranebjaerg Svejgaard syndrome / Transaldolase deficiency / Transient bullous dermolysis of the newborn / Transient infantile liver failure / Transient neonatal diabetes mellitus / Treacher Collins syndrome / Treacher Collins syndrome 3 / Tricho-dento-osseous syndrome / Trichodental syndrome / Trichohepatoenteric syndrome / Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina / Trichorhinophalangeal syndrome type 1 / Trichorhinophalangeal syndrome type 2 / Trichorhinophalangeal syndrome type 3 / Trichothiodystrophy / Tricuspid atresia / Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet / Trigonocephaly bifid nose acral anomalies / Triosephosphate isomerase deficiency / Triphalangeal thumbs brachyectrodactyly / Triple A syndrome / Triploidy / Trismus-pseudocamptodactyly syndrome / Trisomy 13 / Trisomy 17 mosaicism / Trisomy 18 / Trisomy 2 mosaicism / Trisomy 3 mosaicism / Troyer syndrome / Tryptophanuria with dwarfism / Tuberous sclerosis / Tubular aggregate myopathy / Tucker syndrome / Tufted angioma / Tufting enteropathy / Tukel syndrome / Tumor necrosis factor receptor-associated periodic syndrome / Twenty-nail dystrophy / Tylosis with esophageal cancer / Type 1 plasminogen deficiency / Typical congenital nemaline myopathy / Tyrosine hydroxylase deficiency / Tyrosine-oxidase temporary deficiency / Tyrosinemia type 1 / Tyrosinemia type 2 / Tyrosinemia type 3 / Ullrich congenital muscular dystrophy / Ulna and fibula, hypoplasia of / Ulna hypoplasia-intellectual disability syndrome / Ulna metaphyseal dysplasia syndrome / Ulnar hypoplasia lobster claw deformity of feet / Ulnar-mammary syndrome / Uncombable hair syndrome / Unverricht-Lundborg disease / Upington disease / Urachal cyst / Urogenital adysplasia / Uropathy distal obstructive polydactyly / Usher syndrome type 2A / Usher syndrome, type 1 / UV sensitive syndrome / VACTERL association / VACTERL association with hydrocephaly, X-linked / VACTERL hydrocephaly / Vagina, absence of / Vagneur Triolle Ripert syndrome / Van Benthem-Driessen-Hanveld syndrome / Van Buchem disease type 2 / Van Den Bosch syndrome / Van der Woude syndrome / Van der Woude syndrome 2 / Variegate porphyria / Vascular Ehlers-Danlos syndrome / Vascular hyalinosis / Vein of Galen aneurysm / Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence / Verloes Bourguignon syndrome / Verloes Van Maldergem Marneffe syndrome / Verloove Vanhorick Brubakk syndrome / Vibratory urticaria / Vici syndrome / Viljoen Kallis Voges syndrome / Vitreoretinochoroidopathy dominant / VLCAD deficiency / Vocal cord dysfunction familial / Vohwinkel syndrome / Von Hippel-Lindau disease / Waardenburg syndrome type 1 / Waardenburg syndrome type 2 / Waardenburg syndrome type 3 / Waardenburg syndrome type 4 / Wagner syndrome / WAGR syndrome / Walker-Warburg syndrome / Warfarin syndrome / Warman Mulliken Hayward syndrome / Watson syndrome / Weaver syndrome / Weill-Marchesani syndrome / Weinstein Kliman Scully syndrome / Weissenbacher-Zweymuller syndrome / Welander distal myopathy, Swedish type / Wells-Jankovic syndrome / Werner's syndrome / West syndrome / Weyers acrofacial dysostosis / Weyers ulnar ray/oligodactyly syndrome / WHIM syndrome / Whistling face syndrome, recessive form / White forelock with malformations / White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome / White sponge nevus of cannon / Wildervanck syndrome / Williams syndrome / Wilms' tumor / Wilson disease / Wilson-Turner syndrome / Wiskott Aldrich syndrome / Witkop syndrome / Wolf-Hirschhorn syndrome / Wolff-Parkinson-White syndrome - Not a rare disease / Wolfram syndrome / Wolman disease / Woodhouse Sakati syndrome / Woods Black Norbury syndrome / Woolly hair hypotrichosis everted lower lip and outstanding ears / Woolly hair syndrome / Wrinkly skin syndrome / WT limb blood syndrome / Wyburn Mason's syndrome / X-linked adrenal hypoplasia congenita / X-linked agammaglobulinemia / X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease / X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease / X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease / X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease / X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease / X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease / X-linked complicated corpus callosum agenesis - See L1 syndrome / X-linked complicated spastic paraplegia type 1 - See L1 syndrome / X-linked congenital generalized hypertrichosis / X-linked congenital stationary night blindness / X-linked creatine deficiency / X-linked dystonia-parkinsonism/Lubag / X-linked hereditary sensory and autonomic neuropathy with deafness / X-linked hypohidrotic ectodermal dysplasia / X-linked hypophosphatemia / X-linked ichthyosis / X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis / X-linked intellectual disability - short stature – obesity / X-linked intellectual disability, Abidi type / X-linked intellectual disability, Najm type / X-linked intellectual disability, Siderius type / X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome / X-linked intellectual disability-plagiocephaly syndrome / X-linked lissencephaly with abnormal genitalia / X-linked lymphoproliferative syndrome / X-linked lymphoproliferative syndrome 1 / X-linked myopathy with excessive autophagy / X-linked myotubular myopathy / X-linked non-specific intellectual disability / X-linked periventricular heterotopia / X-linked severe combined immunodeficiency / X-linked sideroblastic anemia / X-linked susceptibility to autism-4 / X-linked thrombocytopenia / Xanthinuria type 1 / Xanthinuria type 2 / Xeroderma pigmentosum / XFE progeroid syndrome / XK aprosencephaly / Xp22.3 microdeletion syndrome / Yellow nail syndrome / Yemenite deaf-blind hypopigmentation syndrome / Yorifuji Okuno syndrome / Young syndrome / Yunis-Varon syndrome / Zadik Barak Levin syndrome / ZAP-70 deficiency / Zazam Sheriff Phillips syndrome / Zechi Ceide syndrome / Zellweger syndrome / Zlotogora syndrome / Zori Stalker Williams syndrome / Zunich neuroectodermal syndrome /