List of rare congenital and genetic diseases
From WikiMD's Food, Medicine & Wellness Encyclopedia
List of rare congenital and genetic diseases[edit | edit source]
- 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[edit source]
List of rare congenital and genetic diseases is a rare disease.
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