Congenital and Genetic Diseases
11-beta-hydroxylase deficiency
12q14 microdeletion syndrome
15q11.2 microdeletion
15q13.3 microdeletion syndrome
15q24 microdeletion syndrome
16p11.2 deletion syndrome
16p13.11 microduplication syndrome
16q24.3 microdeletion syndrome
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17q12 deletion syndrome
17q12 duplication
17q23.1q23.2 microdeletion syndrome
18 Hydroxylase deficiency
19p13.12 microdeletion syndrome
1q21.1 microdeletion syndrome
1q44 microdeletion syndrome
2-methyl-3-hydroxybutyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
22q11.2 deletion syndrome
22q11.2 duplication syndrome
22q13.3 deletion syndrome
2p15p16.1 microdeletion syndrome
2q23.1 microdeletion syndrome
2q37 deletion syndrome
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
3-Hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
3M syndrome
3MC syndrome
3q29 microdeletion syndrome
46,XX testicular disorder of sex development
47 XXX syndrome
47, XYY syndrome
48,XXXY syndrome
48,XYYY
49, XXXYY syndrome
49,XXXXX syndrome
49,XXXXY syndrome
5-alpha reductase deficiency
5-oxoprolinase deficiency
5q- syndrome
5q14.3 microdeletion syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
7q11.23 duplication syndrome
8p23.1 duplication syndrome
8q12 microduplication syndrome
Aagenaes syndrome
Aarskog syndrome
Abdominal aortic aneurysm
Abetalipoproteinemia
Ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absence of fingerprints congenital milia
Absence of gluteal muscle
Absence of Tibia
Absence of tibia with polydactyly
Absent breasts and nipples
Absent patella
Acalvaria
Acanthosis nigricans - Not a rare disease
Acanthosis nigricans muscle cramps acral enlargement
Acardia
Acatalasemia
Accessory deep peroneal nerve
Accessory navicular bone - Not a rare disease
Accessory pancreas
Aceruloplasminemia
Achalasia microcephaly syndrome
Achard syndrome
Acheiropody
Achondrogenesis
Achondrogenesis type 1A - See Achondrogenesis
Achondrogenesis type 1B - See Achondrogenesis
Achondrogenesis type 2 - See Achondrogenesis
Achondroplasia
Achondroplasia and severe combined immunodeficiency
Achondroplasia and Swiss type agammaglobulinemia
Acitretin embryopathy
Ackerman syndrome
Acral dysostosis dyserythropoiesis syndrome
Acral peeling skin syndrome
Acro-pectoro-renal field defect
Acrocallosal syndrome, Schinzel type
Acrocapitofemoral dysplasia
Acrocephalopolydactylous dysplasia
Acrocephalopolydactyly
Acrodermatitis enteropathica
Acrodysostosis
Acrodysplasia scoliosis
Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia
Acrofacial dysostosis Catania type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Rodriguez type
Acrofrontofacionasal dysostosis syndrome
Acrogeria, Gottron type
Acrokeratoelastoidosis of Costa
Acromegaloid facial appearance syndrome
Acromegaloid features, overgrowth, cleft palate and hernia
Acromegaloid hypertrichosis syndrome
Acromelic frontonasal dysostosis
Acromesomelic dysplasia Campailla Martinelli type
Acromesomelic dysplasia Hunter Thompson type
Acromesomelic dysplasia Maroteaux type
Acromicric dysplasia
Acroosteolysis dominant type
Acropectoral syndrome
Acropectorovertebral dysplasia F form
Acrorenal mandibular syndrome
ACTH-independent macronodular adrenal hyperplasia
Acute intermittent porphyria
Adactylia unilateral
Adams-Oliver syndrome
ADCY5-related dyskinesia
Addison's disease
Adenine phosphoribosyltransferase deficiency
Adenosine Deaminase 2 deficiency
Adenosine deaminase deficiency
Adenosine monophosphate deaminase 1 deficiency
Adenylosuccinase deficiency
Adermatoglyphia
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
Albright's hereditary osteodystrophy
Alexander disease
ALG1-CDG (CDG-Ik)
ALG11-CDG (CDG-Ip)
ALG12-CDG (CDG-Ig)
ALG13-CDG
ALG2-CDG (CDG-Ii)
ALG3-CDG (CDG-Id)
ALG6-CDG (CDG-Ic)
ALG8-CDG (CDG-Ih)
ALG9-CDG (CDG-IL)
Alkaptonuria
Allain-Babin-Demarquez syndrome
Allan-Herndon-Dudley syndrome
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia intellectual disability syndrome 2
Alopecia macular degeneration growth retardation
Alopecia totalis - Not a rare disease
Alopecia universalis
Alopecia universalis onychodystrophy vitiligo
Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-intellectual disability syndrome
Alpers syndrome
Alpha-1 antitrypsin deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-mannosidosis
Alpha-thalassemia x-linked intellectual disability syndrome
Alport syndrome
Alström syndrome
Alternating hemiplegia of childhood
Alveolar capillary dysplasia
Amaurosis congenita cone-rod type with congenital hypertrichosis
Ambras syndrome
Amelogenesis imperfecta
Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
Amelogenesis imperfecta local hypoplastic
Amelogenesis imperfecta nephrocalcinosis
Ameloonychohypohidrotic syndrome
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
Aminoacylase 1 deficiency
Aminolevulinate dehydratase deficiency porphyria
Amish lethal microcephaly
Amish Nemaline Myopathy
Amniotic band syndrome
Amyloidosis corneal
Amyloidosis of gingiva and conjunctiva with intellectual disability
Amyotonia congenita
Anal sphincter dysplasia
Anauxetic dysplasia
Andermann syndrome
Andersen-Tawil syndrome
Anemia due to Adenosine triphosphatase deficiency
Anemia sideroblastic and spinocerebellar ataxia
Anencephaly
Aneurysm of sinus of Valsalva
Angel shaped phalangoepiphyseal dysplasia
Angelman syndrome
Angioma hereditary neurocutaneous
Angioma serpiginosum, autosomal dominant
Angioma serpiginosum, X-linked
Aniridia - ptosis - intellectual disability - familial obesity
Aniridia absent patella
Aniridia renal agenesis psychomotor retardation
Ankyloblepharon filiforme adnatum cleft palate
Ankyloblepharon filiforme imperforate anus
Ankylosing vertebral hyperostosis with tylosis
Ankylosis of teeth
Annular pancreas
Anodontia
Anomalous origin of right pulmonary artery familial
Anonychia ectrodactyly
Anonychia total with microcephaly
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Anophthalmia plus syndrome
Anophthalmos with limb anomalies
Anorchia
Antecubital pterygium
Anterior segment dysgenesis
Antley Bixler syndrome
Aortic arch anomaly - peculiar facies - intellectual disability
Aortic coarctation
Aortopulmonary window
Apert syndrome
Aphalangia partial with syndactyly and duplication of metatarsal IV
Aplasia cutis congenita
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
Arachnodactyly - intellectual disability - dysmorphism
Arachnoid cysts
AREDYLD
Arginase deficiency
Argininosuccinic aciduria
Arhinia choanal atresia microphthalmia
Aromatase deficiency
Aromatase excess syndrome
Aromatic L-amino acid decarboxylase deficiency
Arrhinia
Arterial calcification of infancy
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis and ectodermal dysplasia
Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita whistling face
Arthrogryposis multiplex congenita, distal, X-linked
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Arthrogryposis-like hand anomaly and sensorineural deafness
Arts syndrome
Ascher Syndrome
Aspartylglycosaminuria
Asternia
Ataxia - hypogonadism - choroidal dystrophy
Ataxia telangiectasia
Ataxia with 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 café au lait spots
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant 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 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, ptosis, and epicanthus inversus syndrome type 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
Blepharoptosis myopia ectopia lentis
Bloom syndrome
Blount disease
Blue cone monochromatism
Blue diaper syndrome
Blue rubber bleb nevus syndrome
BOD syndrome
Bohring-Opitz syndrome
Bone dysplasia Azouz type
Bone dysplasia lethal Holmgren type
Book syndrome
Boomerang dysplasia
BOR-Duane hydrocephalus contiguous gene syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt syndrome
Bowen-Conradi syndrome
Bowing of legs, anterior with dwarfism
Boylan Dew Greco syndrome
Brachial amelia, forebrain defects and facial clefts
Brachioskeletogenital syndrome
Brachycephalofrontonasal dysplasia
Brachydactylous dwarfism Mseleni type
Brachydactyly elbow wrist dysplasia
Brachydactyly long thumb type
Brachydactyly Mononen type
Brachydactyly preaxial with hallux varus and thumb abduction
Brachydactyly tibial hypoplasia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type A5
Brachydactyly type A6
Brachydactyly type A7
Brachydactyly type B
Brachydactyly type C
Brachydactyly type E
Brachydactyly types B and E combined
Brachydactyly with hypertension
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachyolmia type 3
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Bradyopsia
Brain 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
Cardiocranial syndrome
Cardioencephalomyopathy
Cardiofaciocutaneous syndrome
Cardiomelic syndrome Stratton Koehler type
Cardiomyopathy and deafness due to tRNA lysine gene mutation
Cardiomyopathy cataract hip spine disease
Cardiomyopathy dilated with woolly hair and keratoderma
Cardioskeletal syndrome Kuwaiti type
Carey-Fineman-Ziter syndrome
Carney complex
Carney triad
Carnitine palmitoyl transferase 1 deficiency
Carnitine palmitoyltransferase I deficiency , muscle
Carnitine-acylcarnitine translocase deficiency
Carnosinemia
Caroli disease
Carpenter syndrome
Carpotarsal osteochondromatosis
Cartilage-hair hypoplasia
Cat eye syndrome
Cataract ataxia deafness
Cataract congenital Volkmann type
Cataract microcornea syndrome
Cataract, total congenital
Cataract-microcephaly-failure to thrive-kyphoscoliosis
Cataracts, ataxia, short stature, and mental retardation
Catatrichy
Catecholaminergic polymorphic ventricular tachycardia
Catel Manzke syndrome
Caudal appendage deafness
Caudal regression syndrome
Central core disease
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebellar ataxia ectodermal dysplasia
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebellar hypoplasia
Cerebellar hypoplasia tapetoretinal degeneration
Cerebellar hypoplasia with endosteal sclerosis
Cerebelloparenchymal disorder 3
Cerebellum agenesis hydrocephaly
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cavernous malformation - Not a rare disease
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebral folate deficiency
Cerebral gigantism jaw cysts
Cerebro-costo-mandibular syndrome
Cerebro-facio-articular syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebrocostomandibular-like syndrome
Cerebrooculonasal syndrome
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis neuronal 1
Cerulean cataract
Cervical hypertrichosis peripheral neuropathy
Chanarin-Dorfman syndrome
Char syndrome
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1C - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1D - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1 - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2B2 - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2D - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2E - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2G - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2H - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2I - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2J - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2K - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 4A - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1 - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4C - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4E - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4H - See Charcot-Marie-Tooth disease
CHARGE syndrome
Charlie M syndrome
Chediak-Higashi syndrome
Cherubism
Chiari malformation type 2
Chiari malformation type 3
CHILD syndrome
Childhood apraxia of speech
Childhood 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 mucocutaneous candidiasis (CMC) - Not a rare 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
Congenital generalized lipodystrophy type 4
Congenital heart block
Congenital hydrocephalus
Congenital hyperinsulinism
Congenital hypomyelination neuropathy
Congenital insensitivity to pain
Congenital insensitivity to pain with anhidrosis
Congenital intrauterine infection-like syndrome
Congenital lactase deficiency
Congenital laryngeal palsy
Congenital lipoid adrenal hyperplasia
Congenital lobar emphysema
Congenital microcoria
Congenital mirror movement disorder
Congenital muscular dystrophy due to LMNA mutation - See Congenital muscular dystrophy
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy with integrin alpha-7 deficiency - See Congenital muscular dystrophy
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
Congenital myasthenic syndrome with episodic apnea
Congenital nephrotic syndrome Finnish type
Congenital primary aphakia
Congenital pseudoarthrosis
Congenital pulmonary alveolar proteinosis
Congenital pulmonary lymphangiectasia
Congenital rubella
Congenital sucrase-isomaltase deficiency
Congenital 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
Degos 'en cocarde' erythrokeratoderma
Degos disease
Dehydrated hereditary stomatocytosis
Delayed membranous cranial ossification
Dementia familial British
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Dense deposit disease
Dentatorubral-pallidoluysian atrophy
Dentin dysplasia sclerotic bones
Dentin dysplasia, coronal
Dentin dysplasia, type 1
Dentinogenesis imperfecta
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Denys-Drash syndrome
Dermatofibrosarcoma protuberans
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Dermochondrocorneal dystrophy of François
Dermoodontodysplasia
Desbuquois syndrome
Desmoid tumor
Desmosterolosis
Devriendt syndrome
Dextrocardia
Dextrocardia with unusual facies and microphthalmia
DFNB1
Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
Diamond-Blackfan anemia
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diastrophic dysplasia
Dicarboxylic aminoaciduria
Dihydrolipoamide dehydrogenase deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency - 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
Erythroderma lethal congenital
Erythromelalgia
Erythropoietic protoporphyria
Erythropoietic uroporphyria associated with myeloid malignancy
Escher Hirt syndrome
Esophageal atresia
Ethylmalonic encephalopathy
Eunuchoidism familial hypogonadotropic
Exstrophy of the bladder
Fabry disease
FACES syndrome
Facial ectodermal dysplasia
Facial onset sensory and motor neuronopathy
Facio thoraco genital syndrome
Faciocardiorenal syndrome
Facioscapulohumeral muscular dystrophy
Factor V deficiency
Factor VII deficiency
Factor X deficiency
Factor XI deficiency
Factor XII deficiency
Factor XIII deficiency
Fallot complex with severe mental and growth retardation
Familial amyloidosis, Finnish type
Familial atrial fibrillation
Familial atypical multiple mole melanoma syndrome - Not a rare disease
Familial avascular necrosis of the femoral head
Familial bilateral striatal necrosis
Familial breast cancer - Not a rare disease
Familial caudal dysgenesis
Familial cold autoinflammatory syndrome
Familial congenital palsy of trochlear nerve
Familial cutaneous collagenoma
Familial cylindromatosis
Familial dilated cardiomyopathy
Familial Dupuytren contracture - Not a rare disease
Familial dysautonomia
Familial encephalopathy with neuroserpin inclusion bodies
Familial exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial glucocorticoid deficiency
Familial HDL deficiency
Familial hemiplegic migraine
Familial hemiplegic migraine type 1
Familial hemiplegic migraine type 2
Familial hemiplegic migraine type 3
Familial hyperaldosteronism type 2
Familial hyperaldosteronism type III
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial joint instability syndrome
Familial LCAT deficiency
Familial lipoprotein lipase deficiency
Familial Mediterranean fever
Familial multiple lipomatosis
Familial osteochondritis dissecans
Familial pancreatic cancer
Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
Familial platelet disorder with associated myeloid malignancy
Familial porencephaly
Familial progressive cardiac conduction defect
Familial prostate cancer
Familial reactive perforating collagenosis
Familial thoracic aortic aneurysm and dissection
Familial thyroglossal duct cyst
Familial visceral myopathy with external ophthalmoplegia
Fanconi anemia
Fanconi Bickel syndrome
Farber's disease
Fatal familial insomnia
Fatty acid hydroxylase-associated neurodegeneration
Faye-Petersen-Ward-Carey syndrome
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Feigenbaum Bergeron Richardson syndrome
Feingold syndrome
Femoral facial syndrome
Femur bifid with monodactylous ectrodactyly
Femur fibula ulna syndrome
Fertile eunuch syndrome
Fetal akinesia deformation sequence
Fetal aminopterin syndrome
Fetal cystic hygroma
Fetal hydantoin syndrome
Fetal methylmercury syndrome
Fetal retinoid syndrome
Fetal thalidomide syndrome
Fetal valproate syndrome
FG syndrome
FG syndrome 2
FG syndrome 3
Fibro-adipose vascular anomaly
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrous dysplasia
Fibular aplasia ectrodactyly
Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
Fibular 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
Glass-Chapman-Hockley syndrome
Glaucoma sleep apnea
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
Globozoospermia
Glomerulonephritis with sparse hair and telangiectases
Glomerulopathy with fibronectin deposits 1
Glomerulopathy with fibronectin deposits 2
Glucocorticoid-remediable aldosteronism
Glucose transporter type 1 deficiency syndrome
Glucose-galactose malabsorption
Glutamate formiminotransferase deficiency
Glutamine deficiency, congenital
Glutaric acidemia type I
Glutaric acidemia type II
Glutaric acidemia type III
Glutathionuria
Glycine N-methyltransferase deficiency
Glycogen storage disease type 0, liver
Glycogen storage disease type 12
Glycogen storage disease type 13
Glycogen storage disease type 1A
Glycogen storage disease type 1B
Glycogen storage disease type 3
Glycogen storage disease type 4
Glycogen storage disease type 5
Glycogen storage disease type 6
Glycogen storage disease type 7
Glycoprotein VI deficiency
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GMS syndrome
Goldberg-Shprintzen megacolon syndrome
Goldenhar disease
Goldmann-Favre syndrome
Gomez Lopez Hernandez syndrome
Gordon syndrome
Gorham's disease
Gorlin Bushkell Jensen syndrome
Gorlin Chaudhry Moss syndrome
GOSR2-related progressive myoclonus ataxia
Gracile bone dysplasia
GRACILE syndrome
Graham Boyle Troxell syndrome
Graham-Cox syndrome
Graham-Little-Piccardi-Lassueur syndrome
Grant syndrome
Gray platelet syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Groll Hirschowitz syndrome
Growth hormone insensitivity with immunodeficiency
Grubben de Cock Borghgraef syndrome
GTP cyclohydrolase I deficiency
Guanidinoacetate methyltransferase deficiency
Guizar Vasquez Sanchez Manzano syndrome
Gurrieri syndrome
Gyrate atrophy of choroid and retina
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect-photosensitivity-intellectual disability syndrome
Hairy elbows
Halal syndrome
Hall-Riggs syndrome
Hallermann-Streiff syndrome
Hamanishi Ueba Tsuji syndrome
Hand and foot deformity with flat facies
Hand foot uterus syndrome
Hanhart syndrome
Hard skin syndrome Parana type
Hardikar syndrome
Harding ataxia
Harlequin ichthyosis
Harlequin syndrome
Harrod Doman Keele syndrome
Hartnup disease
Hawkinsinuria
Hay-Wells syndrome
Heart defect, tongue hamartoma and polysyndactyly
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
HEC syndrome
Hemangioma thrombocytopenia syndrome
Hemangiomatosis, familial pulmonary capillary
Hemi 3 syndrome
Hemifacial hyperplasia strabismus
Hemifacial microsomia
Hemimegalencephaly
Hemiplegic migraine
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin C disease
Hemoglobin E disease
Hemoglobin SC disease
Hemoglobin SE disease - Not a rare disease
Hemophagocytic lymphohistiocytosis
Hennekam syndrome
Hepatic lipase deficiency
Hepatic venoocclusive disease with immunodeficiency
Hepatoerythropoietic porphyria
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Hereditary antithrombin deficiency
Hereditary congenital facial paresis
Hereditary coproporphyria
Hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary elliptocytosis
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary geniospasm
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
Hereditary hyperekplexia
Hereditary koilonychia
Hereditary leiomyomatosis and renal cell cancer
Hereditary lymphedema type II
Hereditary methemoglobinemia
Hereditary motor and sensory neuropathy type 5
Hereditary mucoepithelial dysplasia
Hereditary multiple osteochondromas
Hereditary neuralgic amyotrophy
Hereditary neuropathy with liability to pressure 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 polydactyly heart disease
Hirschsprung disease type d brachydactyly
Hirschsprung's disease
His bundle tachycardia
Histidinemia
Histiocytosis-lymphadenopathy plus syndrome
HMG CoA lyase deficiency
Holocarboxylase synthetase deficiency
Holoprosencephaly, recurrent infections, and monocytosis
Holt-Oram syndrome
Holzgreve syndrome
Homocarnosinosis
Homocystinuria due to CBS deficiency
Homocystinuria due to MTHFR deficiency
Horizontal gaze palsy with progressive scoliosis
Hoyeraal Hreidarsson syndrome
Hunter Carpenter Macdonald syndrome
Hunter Rudd Hoffmann syndrome
Hunter-McAlpine syndrome
Huntington disease
Hurler syndrome
Hurler–Scheie syndrome
Hutterite cerebroosteonephrodysplasia syndrome
Hyaline fibromatosis syndrome
Hydranencephaly
Hydrocephalus 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
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
Achondroplasia and severe combined immunodeficiency
Achondroplasia and Swiss type agammaglobulinemia
Acitretin embryopathy
Ackerman syndrome
Acral dysostosis dyserythropoiesis syndrome
Acral peeling skin syndrome
Acro-pectoro-renal field defect
Acrocallosal syndrome, Schinzel type
Acrocapitofemoral dysplasia
Acrocephalopolydactylous dysplasia
Acrocephalopolydactyly
Acrodermatitis enteropathica
Acrodysostosis
Acrodysplasia scoliosis
Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia
Acrofacial dysostosis Catania type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Rodriguez type
Acrofrontofacionasal dysostosis syndrome
Acrogeria, Gottron type
Acrokeratoelastoidosis of Costa
Acromegaloid facial appearance syndrome
Acromegaloid features, overgrowth, cleft palate and hernia
Acromegaloid hypertrichosis syndrome
Acromelic frontonasal dysostosis
Acromesomelic dysplasia Campailla Martinelli type
Acromesomelic dysplasia Hunter Thompson type
Acromesomelic dysplasia Maroteaux type
Acromicric dysplasia
Acroosteolysis dominant type
Acropectoral syndrome
Acropectorovertebral dysplasia F form
Acrorenal mandibular syndrome
ACTH-independent macronodular adrenal hyperplasia
Acute intermittent porphyria
Adactylia unilateral
Adams-Oliver syndrome
ADCY5-related dyskinesia
Addison's disease
Adenine phosphoribosyltransferase deficiency
Adenosine Deaminase 2 deficiency
Adenosine deaminase deficiency
Adenosine monophosphate deaminase 1 deficiency
Adenylosuccinase deficiency
Adermatoglyphia
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
Albright's hereditary osteodystrophy
Alexander disease
ALG1-CDG (CDG-Ik)
ALG11-CDG (CDG-Ip)
ALG12-CDG (CDG-Ig)
ALG13-CDG
ALG2-CDG (CDG-Ii)
ALG3-CDG (CDG-Id)
ALG6-CDG (CDG-Ic)
ALG8-CDG (CDG-Ih)
ALG9-CDG (CDG-IL)
Alkaptonuria
Allain-Babin-Demarquez syndrome
Allan-Herndon-Dudley syndrome
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia intellectual disability syndrome 2
Alopecia macular degeneration growth retardation
Alopecia totalis - Not a rare disease
Alopecia universalis
Alopecia universalis onychodystrophy vitiligo
Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-intellectual disability syndrome
Alpers syndrome
Alpha-1 antitrypsin deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-mannosidosis
Alpha-thalassemia x-linked intellectual disability syndrome
Alport syndrome
Alström syndrome
Alternating hemiplegia of childhood
Alveolar capillary dysplasia
Amaurosis congenita cone-rod type with congenital hypertrichosis
Ambras syndrome
Amelogenesis imperfecta
Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
Amelogenesis imperfecta local hypoplastic
Amelogenesis imperfecta nephrocalcinosis
Ameloonychohypohidrotic syndrome
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
Aminoacylase 1 deficiency
Aminolevulinate dehydratase deficiency porphyria
Amish lethal microcephaly
Amish Nemaline Myopathy
Amniotic band syndrome
Amyloidosis corneal
Amyloidosis of gingiva and conjunctiva with intellectual disability
Amyotonia congenita
Anal sphincter dysplasia
Anauxetic dysplasia
Andermann syndrome
Andersen-Tawil syndrome
Anemia due to Adenosine triphosphatase deficiency
Anemia sideroblastic and spinocerebellar ataxia
Anencephaly
Aneurysm of sinus of Valsalva
Angel shaped phalangoepiphyseal dysplasia
Angelman syndrome
Angioma hereditary neurocutaneous
Angioma serpiginosum, autosomal dominant
Angioma serpiginosum, X-linked
Aniridia - ptosis - intellectual disability - familial obesity
Aniridia absent patella
Aniridia renal agenesis psychomotor retardation
Ankyloblepharon filiforme adnatum cleft palate
Ankyloblepharon filiforme imperforate anus
Ankylosing vertebral hyperostosis with tylosis
Ankylosis of teeth
Annular pancreas
Anodontia
Anomalous origin of right pulmonary artery familial
Anonychia ectrodactyly
Anonychia total with microcephaly
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Anophthalmia plus syndrome
Anophthalmos with limb anomalies
Anorchia
Antecubital pterygium
Anterior segment dysgenesis
Antley Bixler syndrome
Aortic arch anomaly - peculiar facies - intellectual disability
Aortic coarctation
Aortopulmonary window
Apert syndrome
Aphalangia partial with syndactyly and duplication of metatarsal IV
Aplasia cutis congenita
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
Arachnodactyly - intellectual disability - dysmorphism
Arachnoid cysts
AREDYLD
Arginase deficiency
Argininosuccinic aciduria
Arhinia choanal atresia microphthalmia
Aromatase deficiency
Aromatase excess syndrome
Aromatic L-amino acid decarboxylase deficiency
Arrhinia
Arterial calcification of infancy
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis and ectodermal dysplasia
Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita whistling face
Arthrogryposis multiplex congenita, distal, X-linked
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Arthrogryposis-like hand anomaly and sensorineural deafness
Arts syndrome
Ascher Syndrome
Aspartylglycosaminuria
Asternia
Ataxia - hypogonadism - choroidal dystrophy
Ataxia telangiectasia
Ataxia with 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 café au lait spots
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant 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 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, ptosis, and epicanthus inversus syndrome type 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
Blepharoptosis myopia ectopia lentis
Bloom syndrome
Blount disease
Blue cone monochromatism
Blue diaper syndrome
Blue rubber bleb nevus syndrome
BOD syndrome
Bohring-Opitz syndrome
Bone dysplasia Azouz type
Bone dysplasia lethal Holmgren type
Book syndrome
Boomerang dysplasia
BOR-Duane hydrocephalus contiguous gene syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt syndrome
Bowen-Conradi syndrome
Bowing of legs, anterior with dwarfism
Boylan Dew Greco syndrome
Brachial amelia, forebrain defects and facial clefts
Brachioskeletogenital syndrome
Brachycephalofrontonasal dysplasia
Brachydactylous dwarfism Mseleni type
Brachydactyly elbow wrist dysplasia
Brachydactyly long thumb type
Brachydactyly Mononen type
Brachydactyly preaxial with hallux varus and thumb abduction
Brachydactyly tibial hypoplasia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type A5
Brachydactyly type A6
Brachydactyly type A7
Brachydactyly type B
Brachydactyly type C
Brachydactyly type E
Brachydactyly types B and E combined
Brachydactyly with hypertension
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachyolmia type 3
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Bradyopsia
Brain 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
Cardiocranial syndrome
Cardioencephalomyopathy
Cardiofaciocutaneous syndrome
Cardiomelic syndrome Stratton Koehler type
Cardiomyopathy and deafness due to tRNA lysine gene mutation
Cardiomyopathy cataract hip spine disease
Cardiomyopathy dilated with woolly hair and keratoderma
Cardioskeletal syndrome Kuwaiti type
Carey-Fineman-Ziter syndrome
Carney complex
Carney triad
Carnitine palmitoyl transferase 1 deficiency
Carnitine palmitoyltransferase I deficiency , muscle
Carnitine-acylcarnitine translocase deficiency
Carnosinemia
Caroli disease
Carpenter syndrome
Carpotarsal osteochondromatosis
Cartilage-hair hypoplasia
Cat eye syndrome
Cataract ataxia deafness
Cataract congenital Volkmann type
Cataract microcornea syndrome
Cataract, total congenital
Cataract-microcephaly-failure to thrive-kyphoscoliosis
Cataracts, ataxia, short stature, and mental retardation
Catatrichy
Catecholaminergic polymorphic ventricular tachycardia
Catel Manzke syndrome
Caudal appendage deafness
Caudal regression syndrome
Central core disease
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebellar ataxia ectodermal dysplasia
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebellar hypoplasia
Cerebellar hypoplasia tapetoretinal degeneration
Cerebellar hypoplasia with endosteal sclerosis
Cerebelloparenchymal disorder 3
Cerebellum agenesis hydrocephaly
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cavernous malformation - Not a rare disease
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebral folate deficiency
Cerebral gigantism jaw cysts
Cerebro-costo-mandibular syndrome
Cerebro-facio-articular syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebrocostomandibular-like syndrome
Cerebrooculonasal syndrome
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis neuronal 1
Cerulean cataract
Cervical hypertrichosis peripheral neuropathy
Chanarin-Dorfman syndrome
Char syndrome
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1C - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1D - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1 - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2B2 - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2D - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2E - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2G - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2H - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2I - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2J - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2K - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 4A - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1 - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4C - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4E - See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4H - See Charcot-Marie-Tooth disease
CHARGE syndrome
Charlie M syndrome
Chediak-Higashi syndrome
Cherubism
Chiari malformation type 2
Chiari malformation type 3
CHILD syndrome
Childhood apraxia of speech
Childhood 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 mucocutaneous candidiasis (CMC) - Not a rare 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
Congenital generalized lipodystrophy type 4
Congenital heart block
Congenital hydrocephalus
Congenital hyperinsulinism
Congenital hypomyelination neuropathy
Congenital insensitivity to pain
Congenital insensitivity to pain with anhidrosis
Congenital intrauterine infection-like syndrome
Congenital lactase deficiency
Congenital laryngeal palsy
Congenital lipoid adrenal hyperplasia
Congenital lobar emphysema
Congenital microcoria
Congenital mirror movement disorder
Congenital muscular dystrophy due to LMNA mutation - See Congenital muscular dystrophy
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy with integrin alpha-7 deficiency - See Congenital muscular dystrophy
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
Congenital myasthenic syndrome with episodic apnea
Congenital nephrotic syndrome Finnish type
Congenital primary aphakia
Congenital pseudoarthrosis
Congenital pulmonary alveolar proteinosis
Congenital pulmonary lymphangiectasia
Congenital rubella
Congenital sucrase-isomaltase deficiency
Congenital 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
Degos 'en cocarde' erythrokeratoderma
Degos disease
Dehydrated hereditary stomatocytosis
Delayed membranous cranial ossification
Dementia familial British
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Dense deposit disease
Dentatorubral-pallidoluysian atrophy
Dentin dysplasia sclerotic bones
Dentin dysplasia, coronal
Dentin dysplasia, type 1
Dentinogenesis imperfecta
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Denys-Drash syndrome
Dermatofibrosarcoma protuberans
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Dermochondrocorneal dystrophy of François
Dermoodontodysplasia
Desbuquois syndrome
Desmoid tumor
Desmosterolosis
Devriendt syndrome
Dextrocardia
Dextrocardia with unusual facies and microphthalmia
DFNB1
Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
Diamond-Blackfan anemia
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diastrophic dysplasia
Dicarboxylic aminoaciduria
Dihydrolipoamide dehydrogenase deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency - 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
Erythroderma lethal congenital
Erythromelalgia
Erythropoietic protoporphyria
Erythropoietic uroporphyria associated with myeloid malignancy
Escher Hirt syndrome
Esophageal atresia
Ethylmalonic encephalopathy
Eunuchoidism familial hypogonadotropic
Exstrophy of the bladder
Fabry disease
FACES syndrome
Facial ectodermal dysplasia
Facial onset sensory and motor neuronopathy
Facio thoraco genital syndrome
Faciocardiorenal syndrome
Facioscapulohumeral muscular dystrophy
Factor V deficiency
Factor VII deficiency
Factor X deficiency
Factor XI deficiency
Factor XII deficiency
Factor XIII deficiency
Fallot complex with severe mental and growth retardation
Familial amyloidosis, Finnish type
Familial atrial fibrillation
Familial atypical multiple mole melanoma syndrome - Not a rare disease
Familial avascular necrosis of the femoral head
Familial bilateral striatal necrosis
Familial breast cancer - Not a rare disease
Familial caudal dysgenesis
Familial cold autoinflammatory syndrome
Familial congenital palsy of trochlear nerve
Familial cutaneous collagenoma
Familial cylindromatosis
Familial dilated cardiomyopathy
Familial Dupuytren contracture - Not a rare disease
Familial dysautonomia
Familial encephalopathy with neuroserpin inclusion bodies
Familial exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial glucocorticoid deficiency
Familial HDL deficiency
Familial hemiplegic migraine
Familial hemiplegic migraine type 1
Familial hemiplegic migraine type 2
Familial hemiplegic migraine type 3
Familial hyperaldosteronism type 2
Familial hyperaldosteronism type III
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial joint instability syndrome
Familial LCAT deficiency
Familial lipoprotein lipase deficiency
Familial Mediterranean fever
Familial multiple lipomatosis
Familial osteochondritis dissecans
Familial pancreatic cancer
Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
Familial platelet disorder with associated myeloid malignancy
Familial porencephaly
Familial progressive cardiac conduction defect
Familial prostate cancer
Familial reactive perforating collagenosis
Familial thoracic aortic aneurysm and dissection
Familial thyroglossal duct cyst
Familial visceral myopathy with external ophthalmoplegia
Fanconi anemia
Fanconi Bickel syndrome
Farber's disease
Fatal familial insomnia
Fatty acid hydroxylase-associated neurodegeneration
Faye-Petersen-Ward-Carey syndrome
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Feigenbaum Bergeron Richardson syndrome
Feingold syndrome
Femoral facial syndrome
Femur bifid with monodactylous ectrodactyly
Femur fibula ulna syndrome
Fertile eunuch syndrome
Fetal akinesia deformation sequence
Fetal aminopterin syndrome
Fetal cystic hygroma
Fetal hydantoin syndrome
Fetal methylmercury syndrome
Fetal retinoid syndrome
Fetal thalidomide syndrome
Fetal valproate syndrome
FG syndrome
FG syndrome 2
FG syndrome 3
Fibro-adipose vascular anomaly
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrous dysplasia
Fibular aplasia ectrodactyly
Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
Fibular 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
Glass-Chapman-Hockley syndrome
Glaucoma sleep apnea
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
Globozoospermia
Glomerulonephritis with sparse hair and telangiectases
Glomerulopathy with fibronectin deposits 1
Glomerulopathy with fibronectin deposits 2
Glucocorticoid-remediable aldosteronism
Glucose transporter type 1 deficiency syndrome
Glucose-galactose malabsorption
Glutamate formiminotransferase deficiency
Glutamine deficiency, congenital
Glutaric acidemia type I
Glutaric acidemia type II
Glutaric acidemia type III
Glutathionuria
Glycine N-methyltransferase deficiency
Glycogen storage disease type 0, liver
Glycogen storage disease type 12
Glycogen storage disease type 13
Glycogen storage disease type 1A
Glycogen storage disease type 1B
Glycogen storage disease type 3
Glycogen storage disease type 4
Glycogen storage disease type 5
Glycogen storage disease type 6
Glycogen storage disease type 7
Glycoprotein VI deficiency
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GMS syndrome
Goldberg-Shprintzen megacolon syndrome
Goldenhar disease
Goldmann-Favre syndrome
Gomez Lopez Hernandez syndrome
Gordon syndrome
Gorham's disease
Gorlin Bushkell Jensen syndrome
Gorlin Chaudhry Moss syndrome
GOSR2-related progressive myoclonus ataxia
Gracile bone dysplasia
GRACILE syndrome
Graham Boyle Troxell syndrome
Graham-Cox syndrome
Graham-Little-Piccardi-Lassueur syndrome
Grant syndrome
Gray platelet syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Groll Hirschowitz syndrome
Growth hormone insensitivity with immunodeficiency
Grubben de Cock Borghgraef syndrome
GTP cyclohydrolase I deficiency
Guanidinoacetate methyltransferase deficiency
Guizar Vasquez Sanchez Manzano syndrome
Gurrieri syndrome
Gyrate atrophy of choroid and retina
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect-photosensitivity-intellectual disability syndrome
Hairy elbows
Halal syndrome
Hall-Riggs syndrome
Hallermann-Streiff syndrome
Hamanishi Ueba Tsuji syndrome
Hand and foot deformity with flat facies
Hand foot uterus syndrome
Hanhart syndrome
Hard skin syndrome Parana type
Hardikar syndrome
Harding ataxia
Harlequin ichthyosis
Harlequin syndrome
Harrod Doman Keele syndrome
Hartnup disease
Hawkinsinuria
Hay-Wells syndrome
Heart defect, tongue hamartoma and polysyndactyly
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
HEC syndrome
Hemangioma thrombocytopenia syndrome
Hemangiomatosis, familial pulmonary capillary
Hemi 3 syndrome
Hemifacial hyperplasia strabismus
Hemifacial microsomia
Hemimegalencephaly
Hemiplegic migraine
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin C disease
Hemoglobin E disease
Hemoglobin SC disease
Hemoglobin SE disease - Not a rare disease
Hemophagocytic lymphohistiocytosis
Hennekam syndrome
Hepatic lipase deficiency
Hepatic venoocclusive disease with immunodeficiency
Hepatoerythropoietic porphyria
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Hereditary antithrombin deficiency
Hereditary congenital facial paresis
Hereditary coproporphyria
Hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary elliptocytosis
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary geniospasm
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
Hereditary hyperekplexia
Hereditary koilonychia
Hereditary leiomyomatosis and renal cell cancer
Hereditary lymphedema type II
Hereditary methemoglobinemia
Hereditary motor and sensory neuropathy type 5
Hereditary mucoepithelial dysplasia
Hereditary multiple osteochondromas
Hereditary neuralgic amyotrophy
Hereditary neuropathy with liability to pressure 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 polydactyly heart disease
Hirschsprung disease type d brachydactyly
Hirschsprung's disease
His bundle tachycardia
Histidinemia
Histiocytosis-lymphadenopathy plus syndrome
HMG CoA lyase deficiency
Holocarboxylase synthetase deficiency
Holoprosencephaly, recurrent infections, and monocytosis
Holt-Oram syndrome
Holzgreve syndrome
Homocarnosinosis
Homocystinuria due to CBS deficiency
Homocystinuria due to MTHFR deficiency
Horizontal gaze palsy with progressive scoliosis
Hoyeraal Hreidarsson syndrome
Hunter Carpenter Macdonald syndrome
Hunter Rudd Hoffmann syndrome
Hunter-McAlpine syndrome
Huntington disease
Hurler syndrome
Hurler–Scheie syndrome
Hutterite cerebroosteonephrodysplasia syndrome
Hyaline fibromatosis syndrome
Hydranencephaly
Hydrocephalus 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
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