domingo, 27 de enero de 2019

Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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 
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 
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 
Acanthosis nigricans - Not a rare disease 
Acanthosis nigricans muscle cramps acral enlargement 
Accessory deep peroneal nerve 
Accessory navicular bone - Not a rare disease 
Accessory pancreas 
Achalasia microcephaly syndrome 
Achard syndrome 
Achondrogenesis type 1A - See Achondrogenesis 
Achondrogenesis type 1B - See Achondrogenesis 
Achondrogenesis type 2 - See Achondrogenesis 
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 
Acrodermatitis enteropathica 
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 
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 
Agammaglobulinemia, microcephaly, and severe dermatitis 
Agammaglobulinemia, non-Bruton type 
Agenesis of the dorsal pancreas 
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 deafness syndrome 
Albinism ocular late onset sensorineural deafness 
Albinism, minimal pigment type 
Albright's hereditary osteodystrophy 
Alexander disease 
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-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 
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 
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 
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 
Arginase deficiency 
Argininosuccinic aciduria 
Arhinia choanal atresia microphthalmia 
Aromatase deficiency 
Aromatase excess syndrome 
Aromatic L-amino acid decarboxylase deficiency 
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 
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 
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 
Auriculo-condylar syndrome 
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 
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 
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 
Caffey disease 
Calabro syndrome 
Calloso-genital dysplasia 
Camera Marugo Cohen syndrome 
Campomelia Cumming type 
Campomelic dysplasia 
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 
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 
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 
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 
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 
Choroidal dystrophy central areolar 
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 
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 
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 
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 
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 
Czech dysplasia metatarsal type 
D ercole syndrome 
D-2-hydroxyglutaric aciduria 
D-bifunctional protein deficiency 
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 
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 
Desbuquois syndrome 
Desmoid tumor 
Devriendt syndrome 
Dextrocardia with unusual facies and microphthalmia 
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 
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 

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