| |
| 3-metilcrotonil glicinuria | 3-methylcrotonylglycinuria I |
| aberraciones cromosómicas subteloméricas crípticas | cryptic subtelomeric chromosome abnormality |
| Acidemia glutárica de tipo 1 | glutaric acidemia type I (GA1) |
| acidemia isovalérica | isovaleric acidemia |
| Acidemia metillmalónica | methylmalonic acidemia |
| Acidemia propiónica | propionic acidemia |
| Acidemia propiónica | proprionic acidemia |
| aciduria argininosuccínica | argininosuccinic acidemia |
| Aciduria glutárica de tipo 1 | glutaric aciduria I |
| Aciduria metilmalónica | methylmalonic aciduria |
| Aciduria piroglutámica | pyroglutamic aciduria |
| Aciduria propiónica | propionic aciduria |
| acondrogénesis | achondrogenesis |
| acondroplasia | achondroplasia |
| adrenoleucodistrofia | adrenoleukodystrophy |
| adrenoleucodistrofia ligada al "x". | X-linked adrenoleukodystrophy |
| albinismo | albinism |
| albino | albino |
| alfa talasemia | alpha thalassemia |
| Alteración de dosis génica | dosage abnormality |
| Amaurosis congénita de Leber | leber congenital amaurosis |
| amaurosis congénita de Leber | leber's congenital amaurosis |
| aminoaciduria dicarboxílica | dicarboxylic aminoaciduria |
| aminoaciduria dicarboxílica | dicarboxylic amino aciduria |
| anemia de Fanconi | Fanconi's anemia |
| anemia falciforme | sickle cell anemia |
| Aneurismas de la aorta torácica familiares | familial aortic aneurysm |
| Aneurismas familiares de (la) aorta torácica | familial aortic aneurysm |
| anomalía cromosómica | chromosome abnormality |
| anormalidad cromosómica | chromosome abnormality |
| anormalidad cromosómica | chromosomal anomaly |
| aortopatía | aortopathy |
| arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía (síndrome de CADASIL) | Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL syndrome) |
| Asociación de CHARGE | CHARGE syndrome |
| ataxia cerebelosa | cerebellar ataxia |
| ataxia espinocerebelosa | spinal cerebellar ataxia (SCA) |
| ataxia espinocerebelosa | spinocerebellar ataxia (SCA) |
| ataxia telangiectasia | ataxia telangiectasia (AT) |
| Ataxia y tremor asociado a X-fragil | fragile X-associated tremor ataxia syndrome |
| atrofia muscular espinal (AME) | spinal muscular atrophy (SMA) |
| atrofia muscular espinal tipo II (AME) | spinal muscular atrophy type 2 |
| beta talasemia | beta-thalassemia |
| Beta talasemia | beta thalassemia |
| canalopatía | channelopathy |
| cancer colorrectal hereditario no poliposo | hereditary nonpolyposis colon cancer (HNPCC) |
| cardiomiopatía hipertrófica familiar | familial hypertrophic cardiomyopathy |
| cariotipo molecular | chromosomal microarray |
| cistinuria | cystinuria |
| citrulinemia | citrullinemia |
| complemento cromosómico | chromosome complement |
| condrodisplasia punctata | chondrodysplasia punctata |
| condrodisplasia punctata rizomélica | rhizomelic chondroplasia punctata |
| Condrodisplasia punteada | chondrodysplasia punctata |
| condrodisplasia punteada rizomélica | rhizomelic chondroplasia punctata |
| corea | chorea |
| corea de Huntington | Huntington's chorea |
| corepressor | corepressor |
| craneosinostosis | craniosynostosis |
| cromosoma | chromosome |
| daltonismo | colour blindness |
| defecto de la captación de carnitina | carnitine uptake defect |
| defecto del ciclo de la urea | citrullinemia |
| Deficiencia de 3-hidroxiacil CoA-deshidrogenasa de cadena larga | long chain hydroxyacyl CoA dehydrogenase deficiency (LCHAD) |
| Deficiencia de acil-CoA deshidrogenasa de cadena media (MCAD) | medium chain acyl CoA dehydrogenase deficiency (MCAD) |
| Deficiencia de acil CoA-deshidrogenasa de cadena muy larga (VLCAD) | very long chain acyl-Co-A dehydrogenase deficiency (VLCAD) |
| deficiencia de beta cetotiolasa (BKT) | beta-ketothiolase (BKT) deficiency |
| deficiencia de biotinidasa | biotinidase deficiency |
| deficiencia de citocromo C oxidasa | cytochrome C oxidase deficiency |
| Deficiencia de ornitina carbamil transferasa | ornithine transcarbamylase (OTC) deficiency |
| Deficiencia de prolidasa | prolidase deficiency |
| Deficiencia de proteína trifuncional | trifunctional protein deficiency (TFP) |
| deficiencia de psuedocolinesterasa | pseudocholinesterase deficiency |
| Deficiencia en Sulfatasa de esteroides | steroid sulfatase deficiency |
| Deficiencia mental ligada al cromosoma X | X-linked mental retardation |
| Deficiencia múltiple de acil CoA-deshidrogenasa (MADD) | multiple acyl CoA dehydrogenase deficiency (MADD) |
| Déficit intelectual ligado al cromosoma X | X-linked mental retardation |
| degeneración espinocerebelosa | spinal cerebellar ataxia (SCA) |
| degeneración espinocerebelosa | spinocerebellar ataxia (SCA) |
| desorden recesivo | recessive disorder |
| deuteranopía | deuteranopia (green blindness) |
| deuteranopsia | deuteranopia (green blindness) |
| Disautonomía familiar | familial dysautonomia |
| Discapacidad intelectual ligada al cromosoma X | X-linked mental retardation |
| Discinesia ciliar primaria | primary ciliary dyskinesia |
| disomía uniparental materna | maternal uniparental disomy |
| disomía uniparental paterna | paternal uniparental disomy |
| displasia campomélica | campomelic dysplasia |
| displasia diastrófica | diastrophic dysplasia |
| Displasia Distrófica | diastrophic dwarfism |
| displasia septo-óptica | septo-optic dysplasia |
| distonía primaria comienzo precoz | early-onset primary dystonia |
| distonía primaria de inicio temprano | early-onset primary dystonia |
| distrofia bastón-cono | rod-cone dystrophy |
| distrofia de conos y bastones | rod-cone dystrophy |
| distrofia miotónica | myotonic dystrophy (DM) |
| distrofia muscular | muscular dystrophy |
| Distrofia muscular de cinturas | limb-girdle muscular dystrophy |
| Distrofia Muscular de Duchenne (DMD) | Duchenne muscular dystrophy (DMD) |
| distrofia múscular del anillo óseo | limb-girdle muscular dystrophy |
| Distrofia muscular oculofaríngea (DMOF) | oculopharyngeal muscular dystrophy (OPMD) |
| El síndrome de Angelman | Angelman syndrome |
| enanismo | dwarfism |
| Enanismo diastrófico | diastrophic dwarfism |
| Enfermedad celiaca | celiac disease |
| Enfermedad de almacenamiento | storage disease |
| Enfermedad de Alzheimer de inicio temprano | early-onset Alzheimer's disease |
| enfermedad de Canavan | Canavan disease |
| enfermedad de Charcot-Marie-Tooth | Charcot-Marie-Tooth (CMT) disease |
| enfermedad de Huntington | Huntington disease (HD) |
| enfermedad de Kennedy | Kennedy disease |
| enfermedad de la hemoglobina C | hemoglobin C disease |
| enfermedad de la hemoglobina H | hemoglobin H disease |
| Enfermedad del colageno | collagen disorder |
| enfermedad del riñón poliquístico | polycystic kidney disease (PKD) |
| enfermedad de orina de jarabe de arce (EOJA) | maple syrup urine disease (MSUD) |
| Enfermedad de Refsum infantil | infantile Refsum disease |
| enfermedad de Stargardt | Stargardt disease |
| enfermedad de Tay-Sachs | Tay-Sachs disease |
| enfermedades por almacenamiento de lípidos | lipid storage disease |
| enfermedad por depósito lisosomal | lysosomal storage disease |
| enfermedad renal poliquística autosómica dominante (EPAD) | autosomal dominant polycystic kidney disease (ADPKD) |
| enfermedad renal quística | cystic renal disease |
| epidermolisis bullosa | epidermolysis bullosa |
| esclerosis tuberosa | tuberous sclerosis (TS) |
| esclerosis tuberosa (ET) | tuberous sclerosis (TS) |
| exostosis múltiple | multiple exostoses |
| Fenilcetonuria | phenylketonuria (PKU) |
| fenilcetonuria materna | maternal phenylketonuria (PKU) |
| fenotipo | phenotype |
| feto triploide de origen materno | maternally-derived triploid fetus |
| fibrosis quística | cystic fibrosis (CF) |
| fiebre mediterránea familiar | familial mediterannean fever (FMF) |
| Galactosemia | galactosemia |
| Galactosemia por Deficiencia de Galactoquinasa | galactokinase-deficiency galactosemia |
| Galactosemia por deficiencia en Galactosa-1-fosfato uridil transferasa | transferase-deficiency galactosemia |
| genodermatosis | genodermatosis |
| Glucogenosis | glycogen storage disease |
| glucosa-6-fosfato deshidrogenasa | glucose-6-phosphate dehydrogenase (G6PD) |
| hemocromatosis | hemochromatosis |
| hemocromatosis hereditaria (HH) | hereditary hemochromatosis |
| hemofilia | hemophilia |
| hemoglobinopatía | haemoglobinopathy |
| hemoglobinopatía | hemoglobinopathy |
| heterogeneidad clínica | clinical heterogeneity |
| hidropesía fetal por hemoglobina de Bart | hemoglobin Bart's hydrops fetalis |
| Hipercolesterolemia familiar | familial hypercholesterolemia |
| Hiperplasia Suprarrenal congénita | congenital adrenal hyperplasia (CAH) |
| hipoacusia y sordera hereditarias no sindrómicas | nonsyndromic hereditary hearing loss and deafness |
| hipoplasia de ventrículo izquierdo | hypoplastic left heart syndrome |
| Homocisteinemia | homocysteinemia |
| Homocistinuria | homocystinuria |
| homocitrulinuria e hiperamonemia (HHH) | triple H syndrome |
| ictiosis ligada al cromosoma X | X-linked ichthyosis |
| incompatibilidad Rhesus/ incompatibilidad Rh | Rhesus (Rh) incompatibility |
| inmunodeficiencia combinada grave | severe combined immunodeficiency |
| isocora/o | isochore |
| isocoras | isochore |
| leiomiomatosis hereditaria | hereditary leiomyomatosis |
| leucodistrofia metacromática | metachromatic leukodystrophy |
| leucoencefalopatía | leukoencephalopathy |
| leucoencefalopatía de Cree | Cree leukoencephalopathy |
| microarray cromosómico | chromosomal microarray |
| microarray genómico | chromosomal microarray |
| miocardiopatía dilatada | dilated cardiomyopathy (DCM) |
| miocardiopatía/displasia arritmogénica del ventrículo derecho | arrhythmogenic right ventricular cardiomyopathy (ARVC) |
| miocardiopatía hipertrófica | hypertrophic cardiomyopathy |
| miopatía mitocondrial | mitochondrial myophaty |
| mongolismo (América Central) | Down syndrome |
| mosaicismo cromosómico | chromosomal mosaicism |
| mucoviscidosis | mucoviscidosis |
| muerte súbita cardiaca | sudden cardiac death (SCD) |
| Neoplasia Endocrina Múltiple | multiple endocrine neoplasia |
| neurofiborma plexiforme | plexiform neurofibroma |
| neurofibromatosis | neurofibromatosis |
| Neuropatía hereditaria Charcot-Marie-Tooth | Charcot-Marie-Tooth hereditary neuropathy |
| neuropatía hereditaria sensoriomotora | hereditary sensori-motor neuropathy (HSMN) |
| Neuropatía óptica hereditaria de Leber | Leber hereditary optic neuropathy (LHON) |
| no sindrómica (o) | nonsyndromic |
| osteocondrodisplasia | osteochondrodysplasia |
| osteodistrofia hereditaria de Albright | albright hereditary osteodystrophy |
| osteogénesis | osteogenesis |
| paquioniquia congénita | pachyonychia congenita |
| paraganglioma hereditario | hereditary paraganglioma |
| Paraparesia espástica hereditaria | hereditary spastic paraplegia |
| paraplejía espástica | spastic paraplegia |
| Paraplejía espástica familiar | hereditary spastic paraplegia |
| pérdida auditiva y sordera hereditaria no sindrómicas | nonsyndromic hereditary hearing loss and deafness |
| persistencia hereditaria de hemoglobina fetal | hereditary persistence of fetal hemoglobin |
| poliposis adenomatosa familiar atenuada (PAFA) | attenuated FAP |
| poliposis adenomatosa familiar (PAF) | familial adenomatous polyposis (FAP) |
| Poliquistosis renal autosómica dominante | autosomal dominant polycystic kidney disease (ADPKD) |
| porfiria intermitente aguda | acute intermittent porphyria |
| protanopía | protanopia (red blindness) |
| pseudoxantoma elástico | pseudoxanthoma elasticum |
| raquitismo | rickets |
| rescate monosómico | monosomy rescue |
| retinitis pigmentaria | retinitis pigmentosa |
| seguimiento medico | medical follow-up |
| síndrome | syndrome |
| Síndrome de Aarskog | Aarskog syndrome |
| síndrome de Andersen-Tawil | Andersen-Tawil syndrome |
| Síndrome de Angelman | Angelman syndrome |
| síndrome de Apert | Apert syndrome |
| sindrome de ataxia espinocerebelosa | spinocerebellar ataxia (SCA) |
| síndrome de ataxia espinocerebelosa | spinal cerebellar ataxia (SCA) |
| síndrome de Baller-Gerold | Baller-Gerold syndrome |
| síndrome de Bardet-Biedl | Bardet-Biedl syndrome |
| síndrome de Beckwith-Wiedemann | Beckwith-Wiedemann syndrome |
| sindrome de beta talasemia y persistencia hereditaria de hemoglobina fetal | hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome |
| síndrome de Birt-Hogg-Dube | Birt-Hogg-Dube syndrome |
| síndrome de Bloom | Bloom syndrome |
| síndrome de Brugada | Brugada syndrome |
| síndrome de cáncer hereditario de mama y de ovario | hereditary breast and ovarian cancer syndrome (HBOCS) |
| Sindrome de CHARGE | CHARGE syndrome |
| síndrome de Cowden | Cowden syndrome |
| Síndrome de "cri du chat" | cri-du-chat syndrome |
| Síndrome de Crouzon | Crouzon syndrome |
| síndrome de deleción | deletion syndrome |
| síndrome de DiGeorge | DiGeorge syndrome |
| Sindrome de DiGeorge | deletion 22q11 syndrome |
| síndrome de Down | Down syndrome |
| sindrome de duplicación | duplication syndrome |
| síndrome de Edwards | Edwards syndrome |
| Sindrome de facies asimétrica con el llanto | asymmetric crying facies syndrome |
| Síndrome de facies de llanto asimétrico | asymmetric crying facies syndrome |
| Síndrome de Fanconi-Bickel | Fanconi-Bickel syndrome |
| síndrome de Gardner | Gardner syndrome |
| síndrome de genes contiguos | contiguous gene syndromes |
| síndrome de Holt-Oram | Holt-Oram syndrome |
| síndrome de Hurler | Hurler syndrome |
| síndrome de Jervell y Lange-Nielsen | Jervell and Lange-Nielsen syndrome |
| Síndrome de Klinefelter | Klinefelter syndrome |
| síndrome de Langer-Giedion | Langer-Giedion syndrome |
| síndrome del cromosoma X frágil | fragile X syndrome |
| Síndrome de Leigh | Leigh syndrome |
| Síndrome de Lesch-Nyhan | Lesch-Nyhan Disease |
| síndrome de Li-Fraumeni | Li-Fraumeni syndrome |
| Síndrome del Nevo Baso Celular | basal cell nevus syndrome |
| síndrome de Loeys- Dietz | Loeys-Dietz syndrome |
| síndrome del QT largo | long QT syndrome (LQTS) |
| síndrome de Lynch | Lynch syndome |
| síndrome de Marfan | Marfan syndrome |
| síndrome de Meckel-Gruber | Meckel-Gruber syndrome |
| síndrome de Menkes | Menkes syndrome |
| síndrome de microdeleción 22q 11.2 | deletion 22q11 syndrome |
| síndrome de Miller-Dieker | Miller Dieker syndrome |
| síndrome de Muir Torre | Muir-Torre syndrome |
| síndrome de Nijmegen | nijmegen breakage syndrome (NBS) |
| síndrome de Noonan | Noonan syndrome |
| Síndrome de ojo de gato | cat-eye syndrome |
| síndrome de Pendred | Pendred syndrome |
| síndrome de Peutz-Jeghers | Peutz-Jeghers syndrome |
| síndrome de poliposis intestinal | intestinal polyposis syndrome |
| síndrome de Prader-Willi | Prader-Willi syndrome |
| síndrome de pterigium poplíteo | popliteal pterygium syndrome |
| síndrome de QT corto | short QT syndrome |
| síndrome de Rendu-Osler-Weber | Osler-Rendu-Weber syndrome |
| Síndrome de Rett | Rett syndrome |
| síndrome de Roberts | Roberts syndrome |
| síndrome de Russell-Silver | Russell-Silver syndrome |
| síndrome de Smith-Lemli-Opitz | Smith-Lemli-Opitz syndrome |
| síndrome de Smith-Magenis | Smith-Magenis syndrome |
| síndrome de Sotos | Sotos syndrome |
| síndrome de Stickler | Stickler syndrome |
| Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil | fragile X-associated tremor ataxia syndrome |
| síndrome de Timothy | Timothy syndrome |
| síndrome de Tourette | Tourette syndrome |
| síndrome de triple X | triple-X syndrome |
| síndrome de trombocitopenia y aplasia radial o síndrome TAR | thrombocytopenia absent radius syndrome |
| síndrome de Turcot | Turcot syndrome |
| síndrome de Turner | Turner syndrome |
| síndrome de Von Hippel Lindau | Von-Hippel-Lindau disease |
| síndrome de Williams | Williams syndrome |
| síndrome de Wolf-Hirschhorn | Wolf-Hirschhorn syndrome |
| Síndrome de Zellweger | Zellweger syndrome |
| Síndrome Fryns | Fryns syndrome |
| síndrome miasténico | myastenthic syndrome |
| síndrome miasténico congénito | congenital myasthenic syndrome |
| síndrome nevus de células basales | basal cell nevus syndrome |
| síndrome por deleción | deletion syndrome |
| síndrome por duplicación | duplication syndrome |
| síndrome Velocardiofacial | velocardiofacial syndrome |
| síndrome X frágil | fragile X syndrome |
| síndrome XXX | XXX syndrome |
| síndrome XYY | XYY syndrome |
| sindrómico | syndromic |
| subtelómero | subtelomere |
| Syndrome de persistencia hereditaria de hemoglobina fetal-anemia falciforme | hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
| taquicardia ventricular polimórfica catecolaminérgica | cathecholaminergic polymorphic ventricular tachycardia (CPVT) |
| Telangiectasia hemorrágica hereditaria | hereditary hemorrhagic telangiectasia (HHT) |
| tetraploidía | tetraploidy |
| tipificación del antígeno leucocitario humano | hla typing |
| tipificacion del HLA | hla typing |
| Tirosinemia | tyrosinemia |
| trastorno del colágeno | collagen disorder |
| Trastornos del ciclo de la urea | urea cycle disorders |
| triploide | triploid |
| triploidía | triploidy |
| trisomía 13 | trisomy 13 |
| trisomía 18 | trisomy 18 |
| trisomía 21 | trisomy 21 |
| trombocitopenia aloinmune | alloimmune thrombocytopenia |
| xeroderma pigmentoso | xeroderma pigmentosa |
| xeroderma pigmentosum | xeroderma pigmentosa |
