List of rare congenital and genetic diseases

List of rare congenital and genetic diseases

• 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 - See Achondrogenesis
• Achondrogenesis type 1B - See Achondrogenesis
• Achondrogenesis type 2 - See Achondrogenesis
• Achondroplasia
• Acitretin embryopathy
• Acral dysostosis dyserythropoiesis syndrome
• Acral peeling skin syndrome
• Acro-pectoro-renal field defect
• Acrocallosal syndrome, Schinzel type
• Acrocapitofemoral 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
• Adrenomyeloneuropathy
• Adrenomyodystrophy
• Adult polyglucosan body disease
• ADULT syndrome
• Adult-onset citrullinemia type II
• 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
• 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 totalis
• 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
• Aniridia - ptosis - intellectual disability - familial obesity
• Aniridia absent patella
• Aniridia renal agenesis psychomotor retardation
• Ankyloblepharon filiforme adnatum cleft palate
• Ankyloblepharon filiforme imperforate anus
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Ankylosing vertebral hyperostosis with tylosis
• Ankylosis of teeth
• Annular pancreas
• Anodontia
• Anomalous origin of right pulmonary artery familial
• Anonychia ectrodactyly
• 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 oculomotor apraxia type 1
• Ataxia with Oculomotor Apraxia Type 2
• Ataxia with oculomotor apraxia type 4
• Ataxia with vitamin E deficiency
• 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 lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune polyglandular syndrome type 1
• Autoimmune polyglandular syndrome type 2
• Autosomal dominant Alport syndrome
• 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 leukodystrophy with autonomic disease
• 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 polycystic kidney disease - Not a rare disease
• Autosomal dominant pseudohypoaldosteronism type 1
• Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Autosomal dominant spondyloepiphyseal dysplasia tarda
• Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Autosomal dominant vitreoretinochoroidopathy
• 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 spastic paraplegia type 49
• 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-epicanthus inversus-ptosis syndrome
• 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
• 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 dopamine-serotonin vesicular transport disease
• 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
• CAD-CDG
• 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
• 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 1A deficiency
• 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
• Cataracts, ataxia, short stature, and mental retardation
• Catatrichy
• Catecholaminergic polymorphic ventricular tachycardia
• Catel Manzke syndrome
• Caudal appendage deafness
• Caudal regression sequence
• 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 encephalopathy due to thiamine pyrophosphokinase deficiency
• 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 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 progressive external ophthalmoplegia
• Chudley Rozdilsky syndrome
• Chylomicron retention disease
• Chylothorax, congenital
• Chylous ascites
• Circumferential skin creases Kunze type
• 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
• Cold-induced sweating 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 immunodeficiency with skin granulomas
• 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 femoral deficiency
• Congenital fiber type disproportion
• Congenital fibrosis of extraocular muscles
• Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 2 - See Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 4
• Congenital heart block
• Congenital hydrocephalus
• Congenital hyperinsulinism
• 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 thrombotic thrombocytopenic purpura
• Congenital toxoplasmosis - Not a rare disease
• Congenital tracheal stenosis
• Congenital tracheomalacia
• Congenital varicella syndrome
• Congenital vertical talus
• Congenitally corrected transposition of the great arteries
• Continuous spike-wave during slow sleep syndrome
• 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
• 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 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
• DEAF1-associated disorders
• 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
• 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 - Not a rare disease
• 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
• Dopamine beta hydroxylase deficiency
• Dopamine transporter deficiency syndrome
• 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
• Dyschromatosis universalis hereditaria
• 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 2, torsion, autosomal recessive
• DYT-PRKRA
• DYT-THAP1
• DYT-TOR1A
• DYT-TUBB4A
• DYT/PARK-GCH1
• Early Infantile Epileptic Encephalopathy
• Early infantile epileptic encephalopathy 25
• Early-onset anterior polar cataract
• 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
• 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
• Epilepsy with myoclonic-atonic seizures
• Epiphyseal dysplasia hearing loss dysmorphism
• Epiphyseal dysplasia multiple with early-onset diabetes mellitus
• Episodic ataxia with nystagmus
• Ermine phenotype
• Erythrokeratoderma en cocardes
• 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 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
• Familiar chronic mucocutaneous candidiasis - Not a rare disease
• 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 hemimelia
• 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
• 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
• 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
• GMS syndrome
• Goldberg-Shprintzen megacolon syndrome
• Goldenhar disease
• Goldmann-Favre syndrome
• Gomez Lopez Hernandez syndrome
• Gordon syndrome
• Gorham's disease
• 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
• Heart defect-tongue hamartoma-polysyndactyly syndrome
• 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 palsies
• Hereditary pancreatitis
• Hereditary paraganglioma-pheochromocytoma
• Hereditary proximal myopathy with early respiratory failure
• 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 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-McAlpine syndrome
• Huntington disease
• Hurler syndrome
• Hurler–Scheie syndrome
• Hutterite cerebroosteonephrodysplasia syndrome
• Hyaline fibromatosis syndrome
• Hydranencephaly
• 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
• 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
• 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, 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 choroidocerebral calcification syndrome
• Infantile convulsions and paroxysmal choreoathetosis, familial
• Infantile histiocytoid cardiomyopathy
• Infantile liver failure syndrome 1
• Infantile myofibromatosis
• Infantile neuroaxonal dystrophy
• Infantile onset spinocerebellar ataxia
• Infantile spasms broad thumbs
• Infantile-onset ascending hereditary spastic paralysis
• Infection-induced acute encephalopathy 3
• 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
• Intellectual disability-spasticity-ectrodactyly syndrome
• Intermediate congenital nemaline myopathy
• Intermediate severe Salla disease - See Free sialic acid storage 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 generalized intermediate - See Epidermolysis bullosa
• Junctional epidermolysis bullosa, 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 localized junctional epidermolysis bullosa-intellectual disability syndrome
• 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
• 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
• 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
• LRBA deficiency
• Lubinsky syndrome
• Lucey-Driscoll syndrome
• Lujan syndrome
• 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, 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 Atrophic Papulosis
• 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
• Marfanoid habitus-autosomal recessive intellectual disability 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)
• 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
• 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 depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• 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 café-au-lait spots
• 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 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
• NBIA/DYT/PARK-PLA2G6
• Neonatal adrenoleukodystrophy
• Neonatal hemochromatosis
• Neonatal intrahepatic cholestasis caused by citrin deficiency
• Neonatal Onset Multisystem Inflammatory disease
• 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
• 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
• Odontotrichomelic syndrome
• 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 6
• Orofaciodigital syndrome 8
• Orofaciodigital syndrome 9
• Orofaciodigital syndromes
• Orotic aciduria type 1
• Orthostatic intolerance due to NET deficiency
• 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
• Overhydrated hereditary stomatocytosis
• 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
• 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
• 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
• Pfeiffer-type cardiocranial 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
• POLR3-Related Leukodystrophy
• Polycystic kidney disease - Not a rare disease
• Polycystic kidneys, severe infantile with tuberous sclerosis
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Polycystic liver disease
• Polydactyly
• 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 3
• 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
• Prothrombin deficiency
• 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
• Pseudohypoparathyroidism with Albright hereditary osteodystrophy
• 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
• Pyramidal molars-abnormal upper lip syndrome
• 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 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
• 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 hemangiomas multiple congenital abnormalities
• Sacral meningocele conotruncal heart defects
• Saethre-Chotzen syndrome
• Saito Kuba Tsuruta syndrome
• Sakoda complex
• Salcedo syndrome
• Salla disease - See Free sialic acid storage 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
• Sengers syndrome
• Senior Loken Syndrome
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Sepiapterin reductase deficiency
• Septo-optic dysplasia spectrum
• Seres-Santamaria Arimany Muniz syndrome
• SERKAL 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 4
• Short rib-polydactyly syndrome, Majewski type
• 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
• Short-limb skeletal dysplasia with severe combined immunodeficiency
• 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 paraplegia-glaucoma-intellectual disability syndrome
• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly 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 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
• Stoll Alembik Finck syndrome
• 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
• 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
• T-cell immunodeficiency, congenital alopecia and nail dystrophy
• Tabatznik syndrome
• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
• Talonavicular coalition
• Tangier disease
• TANGO2-Related Metabolic Encephalopathy and Arrhythmias
• 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 Naguib Al Awadi syndrome
• Teebi Shaltout syndrome
• Teeth noneruption of with maxillary hypoplasia and genu valgum
• Tel Hashomer camptodactyly syndrome
• Telfer Sugar Jaeger syndrome
• Temple syndrome
• Temple-Baraitser 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
• 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
• Toriello-Carey syndrome
• Torticollis keloids cryptorchidism renal dysplasia
• 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
• Ulerythema ophryogenesis
• 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
• 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
• Weaver syndrome
• Weill-Marchesani syndrome
• Weissenbacher-Zweymuller syndrome
• Welander distal myopathy, Swedish type
• Wells-Jankovic syndrome
• Werner 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
• Wiedemann Oldigs Oppermann syndrome
• Wildervanck syndrome
• Williams syndrome
• Wilms' tumor
• Wilson disease
• Wilson-Turner syndrome
• Winchester 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
• Worth type autosomal dominant osteosclerosis
• Wrinkly skin syndrome
• WT limb blood syndrome
• Wyburn-Mason 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 dominant chondrodysplasia punctata 2
• 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, Schimke type
• X-linked intellectual disability, Siderius type
• X-linked intellectual disability, Turner 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
• Xia-Gibbs 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
• ZTTK syndrome
• Zunich neuroectodermal syndrome

NIH genetic and rare disease info

• NIH info on List of rare congenital and genetic diseases

List of rare congenital and genetic diseases is a rare disease.