TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 DEF

A neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues.  2, record 1, English, - Refsum%20disease

Record number: 1, Textual support number: 1 CONT

Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase(PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation. Refsum disease can be classified as a peroxisome biogenesis disorder. This category is inherited as an autosomal recessive trait and is characterized by altered peroxisome assembly, resulting in multiple peroxisome enzyme deficiencies, complex developmental sequelae, and progressive disabilities.  2, record 1, English, - Refsum%20disease

Record number: 1, Textual support number: 1 OBS

G60.1: code used in the International Statistical Classification of Diseases and Related Health Problems.  3, record 1, English, - Refsum%20disease

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 OBS

G60.1 : code de la Classification statistique internationale des maladies et des problèmes de santé connexes.  2, record 1, French, - maladie%20de%20Refsum

Record 1,  Textual support,  Spanish

Record number: 1, Textual support number: 1 DEF

Trastorno metabólico congénito de herencia autosómica recesiva que afecta a la degradación del ácido fitánico, debido a un bloqueo enzimático en su betaoxidación.  2, record 1, Spanish, - enfermedad%20de%20Refsum

Record number: 1, Textual support number: 1 OBS

G60.1: código de la Clasificación Estadística Internacional de Enfermedades y Problemas Relacionados con la Salud.  3, record 1, Spanish, - enfermedad%20de%20Refsum

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 CONT

Sneezing is most often induced by contact with infectious agents or inhalation of irritant dusts and chemical fumes. An unusual phenomenon known as the photic sneeze reflex, sun sneeze or ACHOO(autosomal cholinergic helio-ophtalmologic outburst) syndrome has been described in the literature but has rarely undergone scientific investigation. This reflex is characterized by the induction of a sneeze upon sudden exposure of a dark-adapted subject to intensive bright light.  3, record 2, English, - photic%20sneeze%20reflex

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 CONT

Le réflexe photo-sternutatoire [...] se manifeste lors d'un changement brusque de luminosité, par exemple quand vous passez d'un endroit sombre, comme une salle de cinéma, à la lumière vive de l'extérieur.  3, record 2, French, - r%C3%A9flexe%20photo%2Dsternutatoire

Record 2,  Textual support,  Spanish

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 DEF

... a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis, and multiple congenital anomalies.  2, record 3, English, - Perlman%20syndrome

Record number: 3, Textual support number: 1 OBS

Perlman syndrome is associated with high neonatal mortality, and survivors have developmental delay and a high risk of Wilms tumor.  2, record 3, English, - Perlman%20syndrome

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 DEF

Syndrome congénital rare à transmission autosomique récessive caractérisé par un polyhydramnios, une macrosomie, une dysmorphologie faciale caractéristique, une dysplasie rénale et une néphroblastomatose, ainsi que de multiples anomalies congénitales.  2, record 3, French, - syndrome%20de%20Perlman

Record number: 3, Textual support number: 1 OBS

Des mutations germinales du gène DIS3L2 sont à l'origine de ce syndrome.  3, record 3, French, - syndrome%20de%20Perlman

Record 3,  Textual support,  Spanish

Record 4,  Textual support,  English

Record number: 4, Textual support number: 1 CONT

Frasier syndrome is a condition that affects the kidneys and genitalia. ... Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence.  3, record 4, English, - Frasier%20syndrome

Record number: 4, Textual support number: 1 OBS

[Frasier syndrome] is inherited in an autosomal dominant pattern...  3, record 4, English, - Frasier%20syndrome

Record 4,  Textual support,  French

Record number: 4, Textual support number: 1 CONT

Le syndrome de Frasier est un trouble génétique très rare. Chez les garçons, il affecte les deux reins et engendre une malformation des organes génitaux. Chez les filles, en général, seuls les reins sont atteints.  2, record 4, French, - syndrome%20de%20Frasier

Record 4,  Textual support,  Spanish

Record 5,  Textual support,  English

Record number: 5, Textual support number: 1 CONT

Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull(coronal craniosynostosis) during development. This affects the shape of the head and face. Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. Muenke syndrome is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant pattern.  2, record 5, English, - Muenke%20syndrome

Record 5,  Textual support,  French

Record number: 5, Textual support number: 1 CONT

Le syndrome de Muenke se caractérise par la fermeture prématurée de la suture coronale du crâne au cours du développement, ce qui retentit sur la forme du crâne et du visage [...]  2, record 5, French, - syndrome%20de%20Muenke

Record number: 5, Textual support number: 1 OBS

Une mutation dans [le gène] FGFR3 [...] a également été identifiée dans [...] le syndrome de Muenke [...]  3, record 5, French, - syndrome%20de%20Muenke

Record 5,  Textual support,  Spanish

Record 6,  Textual support,  English

Record number: 6, Textual support number: 1 CONT

Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.... Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4, 169 amino acids.  3, record 6, English, - Alstr%C3%B6m%20syndrome

Record 6,  Textual support,  French

Record number: 6, Textual support number: 1 CONT

Le syndrome d'Alström est une maladie multisystémique caractérisée par une dystrophie des cônes et des bâtonnets, une surdité, une obésité, une résistance à l'insuline et une hyperinsulinémie, un diabète de type 2, une cardiomyopathie dilatée (CMD) et une insuffisance hépatique et rénale progressive.  3, record 6, French, - syndrome%20d%27Alstr%C3%B6m

Record 6,  Textual support,  Spanish

Record 7,  Textual support,  English

Record number: 7, Textual support number: 1 CONT

PS is an autosomal recessive disorder characterized by goiter and sensorineural hearing impairment with an enlarged vestibular aqueduct [occurring] bilaterally.  6, record 7, English, - Pendred%20syndrome

Record 7,  Textual support,  French

Record number: 7, Textual support number: 1 DEF

Affection héréditaire à transmission autosomique récessive qui [est caractérisée par une] surdité de perception bilatérale, [un] goitre euthyroïdien ou hypothyroïdien et [des] troubles de l'équilibre.  3, record 7, French, - syndrome%20de%20Pendred

Record 7,  Textual support,  Spanish

Record 8,  Textual support,  English

Record number: 8, Textual support number: 1 DEF

[A] rare, autosomal recessive disease of partial albinism and variable immunodeficiency [or neurological impairment].  3, record 8, English, - Griscelli%20syndrome

Record 8,  Textual support,  French

Record number: 8, Textual support number: 1 DEF

[...] maladie autosomique récessive [rare, caractérisée par] un reflet argenté des cheveux et une hypopigmentation cutanée, qui peuvent être associés à une atteinte neurologique [...], une immuno-déficience [...] ou être isolés [...]  2, record 8, French, - syndrome%20de%20Griscelli

Record 8,  Textual support,  Spanish

Record 9,  Textual support,  English

Record number: 9, Textual support number: 1 CONT

Cohen syndrome(CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethnically diverse series of patients.  5, record 9, English, - Cohen%20syndrome

Record 9,  Textual support,  French

Record number: 9, Textual support number: 1 DEF

[...] trouble génétique rare du développement[, à transmission autosomique récessive,] caractérisé par une microcéphalie, une dysmorphie faciale, une hypotonie, une déficience intellectuelle non progressive, une myopie, une dystrophie rétinienne, une neutropénie et une obésité tronculaire.  3, record 9, French, - syndrome%20de%20Cohen

Record 9,  Textual support,  Spanish

Record 10,  Textual support,  English

Record number: 10, Textual support number: 1 DEF

An autosomal recessive disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infections, high incidence of malignancy, and an immunodeficiency showing a variable disorder of cellular immunity...  8, record 10, English, - ataxia%2Dtelangiectasia

Record 10,  Textual support,  French

Record number: 10, Textual support number: 1 CONT

Le syndrome d'ataxie-télangiectasie est un syndrome héréditaire à transmission autosomique récessive, associant une ataxie cérébelleuse, des télangiectasies, un abaissement du taux sérique des IgA et des IgG, mais pas des IgM. Les déficits en IgG2 et IgG4 sont très fréquents. Il existe aussi un déficit des cellules T. Les infections bactériennes, notamment bronchiques et ORL [otorhinolaryngologiques], sont fréquentes ainsi que les manifestations auto-immunes et les cancers, en particulier du tissu lymphoïde.  7, record 10, French, - ataxie%2Dt%C3%A9langiectasie

Record 10,  Textual support,  Spanish

Record 11,  Textual support,  English

Record number: 11, Textual support number: 1 OBS

RDEB is an autosomal recessive inherited condition. This means both parents are carriers, yet they are unaffected. When each parent has a copy of the altered gene, there is a 1 in 4 chance or 25% that the child will be affected.  1, record 11, English, - recessive%20dystrophic%20epidermolysis%20bullosa

Record number: 11, Textual support number: 2 OBS

Although in some cases this form of EB [epidermolysis bullosa] can be mild with generalized blistering, typically the recessive forms of EB tend to be more severe. Onset is usually at birth with areas of missing skin. Generalized blistering then scarring can occur on skin surfaces and mucous membranes. Scarring may limit range of motion of extremities. Fusion of fingers and toes and contractures cause deformity and loss of function.  1, record 11, English, - recessive%20dystrophic%20epidermolysis%20bullosa

Record 11,  Textual support,  French

Record number: 11, Textual support number: 1 CONT

L'EB [épidermolyse bulleuse] dystrophique est causée par des mutations dominantes ou récessives du gène COL7A1 qui code pour le collagène de type VII [...] Les mutations pathologiques conduisent à la production d'un collagène de type VII non fonctionnel ou à son absence. En conséquence, les fibrilles d'ancrage de la jonction dermo-épidermique ne sont pas assemblées correctement ou ne sont pas formées, ce qui réduit l'adhérence entre le derme et l'épiderme et provoque des plaies. Les patients atteints d'EBDR souffrent donc de ces plaies pendant toute leur vie [...]  2, record 11, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique%20r%C3%A9cessive

Record 11,  Textual support,  Spanish

Record 12,  Textual support,  English

Record number: 12, Textual support number: 1 OBS

DDEB is an autosomal dominant condition. One parent of an affected person will usually also have the condition.  1, record 12, English, - dominant%20dystrophic%20epidermolysis%20bullosa

Record number: 12, Textual support number: 2 OBS

There is usually generalized blistering noted at birth. Blistering may be generalized or appear only on the hands, feet, elbows or knees: this is usually due to mechanical trauma. Rarely does scarring cause immobility and deformity of the hands and feet. Small cysts or milia are seen at sites of scarring. There may be mild involvement of the mucous membranes, nails may be thick, dystrophic or destroyed.  1, record 12, English, - dominant%20dystrophic%20epidermolysis%20bullosa

Record 12,  Textual support,  French

Record number: 12, Textual support number: 1 CONT

L'EBD [épidermolyse bulleuse dystrophique] comprend deux sous-types, soit les formes dominantes (EBDD) et récessives (EBDR [épidermolyse bulleuse dystrophique récessive]), qui diffèrent par leur mode de transmission.  2, record 12, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique%20dominante

Record 12,  Textual support,  Spanish

Record 13,  Textual support,  English

Record number: 13, Textual support number: 1 DEF

Pertaining to a chromosome that is not a sex chromosome.  2, record 13, English, - autosomal

Record 13,  Textual support,  French

Record number: 13, Textual support number: 1 DEF

Qui se rapporte à un chromosome qui n'est pas un chromosome sexuel.  2, record 13, French, - autosomique

Record 13,  Textual support,  Spanish

Record 14,  Textual support,  English

Record number: 14, Textual support number: 1 DEF

An autosomal dominant disorder... comprising a combination of ectodermal, mesodermal, and endodermal anomalies,... characterized by development of multiple hamartomatous lesions, especially in the skin, oral mucosa, breast, thyroid, colon, and intestins, and... associated with a high incidence of malignancies in the organs involved.  7, record 14, English, - Cowden%20disease

Record number: 14, Textual support number: 1 CONT

Cowden syndrome is caused by a mutation in the PTEN tumour suppressor gene.  8, record 14, English, - Cowden%20disease

Record 14,  Textual support,  French

Record number: 14, Textual support number: 1 DEF

Maladie systémique, à la fois cutanée et viscérale, associant aux lésions cutaneo-muqueuses (avant tout papuleuses) très caractéristiques, des multiples manifestations viscérales, notamment mammaires, thyroïdiennes, digestives, ovariennes et squelettales.  4, record 14, French, - maladie%20de%20Cowden

Record number: 14, Textual support number: 1 CONT

Le syndrome de Cowden est causé par une mutation du gène PTEN, un gène suppresseur de tumeur.  5, record 14, French, - maladie%20de%20Cowden

Record 14,  Textual support,  Spanish

Record 15,  Textual support,  English

Record number: 15, Textual support number: 1 DEF

An autosomal dominant central retinal degeneration characterized by an ophthalmoscopic appearance of an egg fried sunny side up in the macula and later a scrambled-egg appearance when vision deteriorates.  1, record 15, English, - Best%20disease

Record 15,  Textual support,  French

Record number: 15, Textual support number: 1 DEF

Affection dégénérative héréditaire caractérisée par l'apparition dans les 10 [ou] 20 premières années de la vie d'u dépôt orange et brillant sur la rétine, dont l'apparence peut faire penser à un jaune d'œuf frit.  3, record 15, French, - maladie%20de%20Best

Record 15,  Textual support,  Spanish

Record number: 15, Textual support number: 1 DEF

Maculopatía de herencia autosómica dominante, con una expresividad y penetrancia variables, relacionada con mutaciones del gen bestrophin localizadoen el cromosoma 11, [...] típicamente bilateral y de aparición en la infancia, [con] lesión amarillenta por acúmulo de lipofuscina [...]  1, record 15, Spanish, - enfermedad%20de%20Best

Record 16,  Textual support,  English

Record number: 16, Textual support number: 1 DEF

Complete or partial absence of the iris, usually of autosomal dominant inheritance.  2, record 16, English, - aniridia

Record 16,  Textual support,  French

Record number: 16, Textual support number: 1 DEF

Absence totale ou quasiment totale de l'iris de l'œil, d'origine congénitale ou acquise à la suite d'un traumatisme.  2, record 16, French, - aniridie

Record 16,  Textual support,  Spanish

Record number: 16, Textual support number: 1 DEF

Ausencia del iris congénita o adquirida.  1, record 16, Spanish, - aniridia

Record 17,  Textual support,  English

Record number: 17, Textual support number: 1 DEF

The complete form of a hereditary disorder which is called mandibulofacial dysostosis. The Franceschetti syndrome is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal dominant trait.  1, record 17, English, - Franceschetti%26rsquo%3Bs%20disease

Record number: 17, Textual support number: 1 CONT

(Trisomy 18) Finally, the small lower jaw gives a receding chin suggestive of Franceschetti’s disease.  1, record 17, English, - Franceschetti%26rsquo%3Bs%20disease

Record 17,  Textual support,  French

Record number: 17, Textual support number: 1 DEF

Affection du fond d'œil se caractérisant par la présence, au niveau ou autour du pôle postérieur (parfois à la périphérie), de taches jaunes situées dans les couches profondes de la rétine, disséminées ou groupées en grappe, de forme variable (arrondie, allongée, ou étoilée).  1, record 17, French, - maladie%20de%20Franceschetti

Record number: 17, Textual support number: 1 CONT

(Trisomie 18) Enfin, la mâchoire inférieure est petite, le menton nettement en retrait sur le massif facial donnant un aspect pouvant rappeler la maladie de Franceschetti.  1, record 17, French, - maladie%20de%20Franceschetti

Record 17,  Textual support,  Spanish

Record 18,  Textual support,  English

Record number: 18, Textual support number: 1 DEF

[An] extremely rare genetic disorder which causes a person to have no fingerprints.  5, record 18, English, - adermatoglyphia

Record number: 18, Textual support number: 1 CONT

[The specialist] tracked down three other unrelated families that included people with adermatoglyphia, which they dubbed "immigration delay disease," and successfully located the single gene mutation responsible in 2011.  6, record 18, English, - adermatoglyphia

Record number: 18, Textual support number: 2 CONT

The finger pads of people with adermatoglyphia are entirely flat—they have none of the arching or looping ridges that characterize the fingerprints of virtually all humans.  6, record 18, English, - adermatoglyphia

Record 18,  Textual support,  French

Record number: 18, Textual support number: 1 CONT

L'adermatoglyphie est une maladie génétique extrêmement rare; elle se caractérise par l'absence totale de dermatoglyphes, c'est-à-dire l'absence totale d'empreintes et de crêtes papillaires que ce soit au niveau des mains ou des pieds. Elle ne touche que quatre familles réparties dans le monde.  2, record 18, French, - adermatoglyphie

Record 18,  Textual support,  Spanish

Record 19,  Textual support,  English

Record number: 19, Textual support number: 1 DEF

An autosomal dominant symptom complex consisting of myxomas of the soft tissues; spotty skin pigmentation; tumors of the adrenal gland, pituitary, and testicle; and schwannomas of peripheral nerves.  3, record 19, English, - Carney%20complex

Record 19,  Textual support,  French

Record number: 19, Textual support number: 1 DEF

Affection rare à transmission autosomique dominante [qui] associe diverses anomalies : lésions cutanées (éphélides, lentigines, nævus), myxomes multiples (cutanés, cardiaques, mammaires, parfois buccaux) et endocriniennes (cortex surrénal, adénome hypophysaire, tumeurs testiculaires).  3, record 19, French, - complexe%20de%20Carney

Record number: 19, Textual support number: 1 OBS

Les lèvres sont [...] atteintes de lentigines multiples avec possibilités d’apparitions tardives d’éphélides photoaggravées. Cette pathologie est grave à cause des conséquences cardiaques.  3, record 19, French, - complexe%20de%20Carney

Record 19,  Textual support,  Spanish

Record 20,  Textual support,  English

Record number: 20, Textual support number: 1 CONT

The mechanisms for autosomal-dominant gene mutations are much more heterogeneous than those demonstrated for autosomal recessive traits. It has been suggested that autosomal-dominant diseases in general are more likely to be caused by mutations affecting structural proteins. Autosomal dominant inheritance is recognized by the following criteria : the trait is transmitted to half the children of each affected individual; unaffected individuals do not transmit the trait, so the trait appears in an unbroken sequence of generations with no skips; and males and females are equally likely to have and to transmit the trait. Many dominant traits are not fully penetrant, so the ideal pattern may not be apparent.  2, record 20, English, - autosomal%20dominant%20trait

Record 20,  Textual support,  French

Record number: 20, Textual support number: 1 CONT

Les critères de dépistage de la transmission autosomique dominante peuvent se résumer ainsi : 1. Le caractère apparaît à chaque génération, sans exception. 2. Le caractère génétique est transmis par un sujet affecté à la moitié de ses enfants (en moyenne). 3. Les sujets épargnés ne transmettent pas le caractère à leurs enfants. 4. L'apparition ou la transmission du caractère n'est pas influencée par le sexe, c'est-à-dire que les hommes et les femmes ont une probabilité égale d'avoir le caractère ainsi que de le transmettre.  1, record 20, French, - caract%C3%A8re%20autosomique%20dominant

Record 20,  Textual support,  Spanish

Record 21,  Textual support,  English

Record number: 21, Textual support number: 1 DEF

The presence in a cell of a pair of chromosomes of a specified kind.  2, record 21, English, - disomy

Record number: 21, Textual support number: 1 OBS

The normal condition for a diploid cell is heterodisomy, where one member of each autosomal pair is of maternal and the other of paternal origin.  2, record 21, English, - disomy

Record 21,  Textual support,  French

Record number: 21, Textual support number: 1 DEF

Caractéristique des couples de chromosomes homologues dans le caryotype des cellules diploïdes.  2, record 21, French, - disomie

Record 21,  Textual support,  Spanish

Record number: 21, Textual support number: 1 DEF

Presencia de dos cromosomas homólogos específicos.  2, record 21, Spanish, - disom%C3%ADa

Record 22,  Textual support,  English

Record number: 22, Textual support number: 1 DEF

A semirecessive autosomal hereditary disorder under the control of more than one locus involving up to 100-fold amounts of cystine in the cells, in the lysosomes.  1, record 22, English, - cystinosis

Record 22,  Textual support,  French

Record number: 22, Textual support number: 1 DEF

Affection congénitale caractérisée par un dépôt de cystine cristallisée dans les tissus comme le foie, le rein, la rate, la moelle osseuse, le système histiocytes-macrophages, etcetera.  1, record 22, French, - cystinose

Record 22,  Textual support,  Spanish

Record number: 22, Textual support number: 1 DEF

Enfermedad hereditaria que se transmite en forma autosómica recesiva, caracterizada por un trastorno de metabolismo de la cistina, la cual se deposita en los tejidos (sistema reticuloendotelial del hígado, del bazo, de los pulmones, de los ganglios linfáticos).  1, record 22, Spanish, - cistinosis

Record 23,  Textual support,  English

Record number: 23, Textual support number: 1 DEF

An inherited autosomal recessive disorder of the exocrine glands, causing those glands to produce abnormally thick secretions of mucus, elevation of sweat electrolytes, increased organic and enzymatic constituents of saliva, and overactivity of the autonomic nervous system.  6, record 23, English, - cystic%20fibrosis

Record 23,  Textual support,  French

Record number: 23, Textual support number: 1 DEF

Maladie autosomique récessive, symptomatique chez les homozygotes, caractérisée par un dysfonctionnement des glandes exocrines lié à un défaut congénital d’un facteur de régulation de la perméabilité membranaire, entraînant par des sécrétions anormalement visqueuses une insuffisance respiratoire chronique obstructive, une insuffisance pancréatique [et] des troubles intestinaux.  4, record 23, French, - fibrose%20kystique

Record number: 23, Textual support number: 1 OBS

Toutes les glandes à sécrétion externe sont atteintes.  4, record 23, French, - fibrose%20kystique

Record 23,  Textual support,  Spanish

Record 24,  Textual support,  English

Record number: 24, Textual support number: 1 DEF

The absence of an eye or eyes in the newborn, usually an autosomal recessive genetic condition.  2, record 24, English, - anophthalmia

Record 24,  Textual support,  French

Record number: 24, Textual support number: 1 DEF

Absence congénitale de l'un ou des deux yeux.  1, record 24, French, - anophtalmie

Record 24,  Textual support,  Spanish

Record number: 24, Textual support number: 1 DEF

Ausencia congénita de uno o los dos ojos.  1, record 24, Spanish, - anoftalm%C3%ADa

Record 25,  Textual support,  English

Record number: 25, Textual support number: 1 DEF

An autosomal recessive phenotype of symmetric dwarfism, deafness, chorioretinitis, microcephaly, mental retardation, and features of precocious aging that are evidenced by appearance and atherosclerosis.  1, record 25, English, - Cockayne%20syndrome

Record 25,  Textual support,  French

Record number: 25, Textual support number: 1 CONT

Les «réparatoses» sont une famille de maladies dans lesquelles les mécanismes de réparation de l'ADN semblent anormaux. Le syndrome de Cockayne, exceptionnel, et le Xeroderma pigmentosum en sont des exemples, caractérisés par une extrême sensibilité de la peau aux rayons UV associée, pour la première maladie, à des malformations et à un retard mental et, pour la seconde, à une grande fréquence d'apparitions de cancers de la peau.  1, record 25, French, - syndrome%20de%20Cockayne

Record 25,  Textual support,  Spanish

Record number: 25, Textual support number: 1 DEF

Enfermedad hereditaria con patrón de herencia autosómico recesivo, [...] se caracteriza por el retraso del crecimiento, alteraciones en el desarrollo del sistema nervioso, envejecimiento prematuro y fotosensibilidad  1, record 25, Spanish, - s%C3%ADndrome%20de%20Cockayne

Record 26,  Textual support,  English

Record number: 26, Textual support number: 1 DEF

The color blindness in which the sensory mechanisms for blue and yellow are defective.  1, record 26, English, - tritanomaly

Record number: 26, Textual support number: 1 OBS

It occurs both as an autosomal dominant and a less severe X-linked trait.  1, record 26, English, - tritanomaly

Record 26,  Textual support,  French

Record number: 26, Textual support number: 1 DEF

Déficience de perception visuelle du bleu.  1, record 26, French, - tritanomalie

Record 26,  Textual support,  Spanish

Record number: 26, Textual support number: 1 DEF

Debilidad para el [color] azul-amarillo.  1, record 26, Spanish, - tritanomal%C3%ADa

Record 27,  Textual support,  English

Record number: 27, Textual support number: 1 DEF

An autosomal dominant [disease] involving obstruction of the bile duct(cholestasis) and jaundice, lung anomalies(pulmonary stenosis), deformed vertebrae, arterial narrowness, deformed iris, altered eye pigmentation, facial anomalies, etcetera.  1, record 27, English, - Alagille%20syndrome

Record number: 27, Textual support number: 1 OBS

The biochemical defect is in the Notch-ligand, Jagged-1. In some cases, translocations or deletions of the region accompany it. The multiplicity of the symptoms has been considered as a contiguous gene syndrome.  1, record 27, English, - Alagille%20syndrome

Record 27,  Textual support,  French

Record number: 27, Textual support number: 1 DEF

[Maladie autosomale caractérisée par] une cholestase chronique liée à une paucité des voies biliaires interlobulaires, une sténose périphérique des branches de l'artère pulmonaire, des vertèbres «en aile de papillon», un faciès caractéristique et un embryotoxon postérieur.  1, record 27, French, - syndrome%20d%27Alagille

Record 27,  Textual support,  Spanish

Record number: 27, Textual support number: 1 DEF

Trastorno genético, autosómico dominante, [...] se caracteriza por anomalías hepáticas, esqueléticas, renales, oculares, cardiovasculares y dismorfias faciales.  1, record 27, Spanish, - s%C3%ADndrome%20de%20Alagille

Record 28,  Textual support,  English

Record number: 28, Textual support number: 1 DEF

A hereditary condition characterized by repetitive febrile episodes and autonomic disturbances, occurring in precise or irregular cycles of days, weeks, or months.  1, record 28, English, - periodic%20fever

Record number: 28, Textual support number: 1 OBS

Transmitted as an autosomal dominant trait, it may begin at any time of life and may last for decades with temporary remissions, or may cease.  1, record 28, English, - periodic%20fever

Record 28,  Textual support,  French

Record number: 28, Textual support number: 1 CONT

Les fièvres périodiques héréditaires comportent plusieurs maladies toutes héréditaires autosomiques dominantes ou récessives dont les gènes sont actuellement connus de même que les protéines concernées et, selon la maladie, touchent des ethnies particulières.  1, record 28, French, - fi%C3%A8vre%20p%C3%A9riodique%20h%C3%A9r%C3%A9ditaire

Record 28,  Textual support,  Spanish

Record 29,  Textual support,  English

Record number: 29, Textual support number: 1 DEF

A disorder of autosomal dominant inheritance, marked by developmental changes in the nervous system, muscles, bones, and skin with café au lait spots, intertriginous freckling, Lisch nodules, and multiple pedunculated neurofibromas over much of the body.  1, record 29, English, - neurofibromatosis%201

Record number: 29, Textual support number: 1 OBS

Its cause is absence of the tumor suppressor neurofibromin, which is coded by a gene on chromosome 17q.  1, record 29, English, - neurofibromatosis%201

Record number: 29, Textual support number: 2 OBS

Neurofibromatosis 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., neurofibromatosis 2, neurofibromatosis 3, etc.) have been described.  2, record 29, English, - neurofibromatosis%201

Record 29,  Textual support,  French

Record number: 29, Textual support number: 1 CONT

maladie de von Recklinghausen. Maladie héréditaire autosomique dominante, à pénétrance complète et expressivité variable. Elle est caractérisée par l'association de taches cutanées pigmentaires (dites «taches café au lait»), de tumeurs cutanées et sous-cutanées fibreuses et de neurofibromes siégeant sur le trajet de nerfs périphériques, crâniens (notamment le nerf cochléaire) ou spinaux, et qui peuvent provoquer des troubles neurologiques. Cette affection fait partie des phacomatoses.  1, record 29, French, - neurofibromatose%20de%20type%20I

Record number: 29, Textual support number: 1 OBS

Le terme neurofibromatose a été introduit en 1882 par von Recklinghausen. Sous ce nom, sont regroupées plusieurs affections dont les principales sont : - La neurofibromatose de type 1 (NF1) ou maladie de von Recklinghausen - La neurofibromatose de type 2 (NF2).  2, record 29, French, - neurofibromatose%20de%20type%20I

Record 29,  Textual support,  Spanish

Record number: 29, Textual support number: 1 DEF

Enfermedad congénita que se caracteriza por la formación de neuromas, deformaciones físicas y una predisposición a desarrollar tumores cerebrales y diversos tipos de cáncer.  1, record 29, Spanish, - neurofibromatosis

Record 30,  Textual support,  English

Record number: 30, Textual support number: 1 DEF

Inherited form of Creutzfeldt-Jakob disease which shows an autosomal dominant pattern of disease segregation associated with a gene mutation.  1, record 30, English, - familial%20Creutzfeldt%2DJakob%20disease

Record number: 30, Textual support number: 1 OBS

If onset is usually at a slightly younger age (± 50), it generally shows clinical and pathological features analogous to the sporadic form.  1, record 30, English, - familial%20Creutzfeldt%2DJakob%20disease

Record 30,  Textual support,  French

Record number: 30, Textual support number: 1 DEF

Forme héréditaire à transmission autosomique dominante de la maladie de Creutzfeldt-Jakob associée à une mutation du gène de la prion-protéine.  1, record 30, French, - maladie%20de%20Creutzfeldt%2DJakob%20familiale

Record number: 30, Textual support number: 1 OBS

Elle survient plus précocement que la forme sporadique (âge moyen : 50 ans). D'évolution plus longue, elle présente des caractéristiques cliniques et neuropathologiques analogues à la forme sporadique.  1, record 30, French, - maladie%20de%20Creutzfeldt%2DJakob%20familiale

Record 30,  Textual support,  Spanish

Record 31,  Textual support,  English

Record number: 31, Textual support number: 1 DEF

An acquired or cogenital keratinization disorder that is characterized by dryness and fine scaling.  2, record 31, English, - ichthyosis

Record number: 31, Textual support number: 1 CONT

Acquired ichthyosis(AI). AI is characterized by small whitish brown scales on the trunk and extensor surfaces of the legs and arms and is indistinguishable from the autosomal dominant ichthyosis vulgaris. The histopathologic characteristics include hyperkeratosis, parakeratosis, thinning of the granular layer, acanthosis, and a mild perivascular lymphohistiocytic infiltrate.  2, record 31, English, - ichthyosis

Record 31,  Textual support,  French

Record number: 31, Textual support number: 1 DEF

Kératose diffuse et généralisée donnant à la peau un aspect particulier sec et rugueux rappelant la peau de poisson.  2, record 31, French, - ichthyose

Record number: 31, Textual support number: 1 CONT

Exfoliant. Effet pharmacologique : séparent les cellules de la cornée. Exemple : acide salicylique (pas aspirine), urée. Indications : hyperkératose) psoriasis, ichthyose, acné.  3, record 31, French, - ichthyose

Record 31,  Textual support,  Spanish

Record number: 31, Textual support number: 1 DEF

Enfermedad cutánea caracterizada por la sequedad y por la formación de escamas.  1, record 31, Spanish, - ictiosis

Record 32,  Textual support,  English

Record number: 32, Textual support number: 1 CONT

Acrokeratosis verruciformis of Hopf is an autosomal dominant genodermatosis usually presenting with multiple planar wart-like lesions, typically observed on the dorsum of the hands and feet.  2, record 32, English, - acrokeratosis%20verruciformis%20of%20Hopf

Record 32,  Textual support,  French

Record number: 32, Textual support number: 1 DEF

Dermatose d'origine génétique, généralement caractérisée par des lésions verruqueuses et hyperkératosiques localisées sur le dos des mains et des pieds, aux coudes et aux genoux.  1, record 32, French, - acrok%C3%A9ratose%20verruqueuse

Record 32,  Textual support,  Spanish

Record 33,  Textual support,  English

Record number: 33, Textual support number: 1 DEF

A hereditary disorder occurring in two forms : the complete form(Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an auto-somal dominant trait. The incomplete form(Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected.  2, record 33, English, - mandibulofacial%20dysostosis

Record number: 33, Textual support number: 1 CONT

The syndrome ... consists of certain associated congenital and familial deformities of the ears, malar bones, lips, chin and lower eyelids.... There may be microtia, meatal atresia and auricular fistulae. Malformation of the middle and inner ear produces conductive or perceptive deafness....  3, record 33, English, - mandibulofacial%20dysostosis

Record 33,  Textual support,  French

Record number: 33, Textual support number: 1 DEF

[...] maladie héréditaire dominante, avec anomalies de la face, de la bouche et des oreilles, due à une hypoplasie osseuse qui porte surtout sur les os malaires (pommettes).  1, record 33, French, - dysostose%20mandibulo%2Dfaciale

Record number: 33, Textual support number: 1 OBS

Le nez paraît important en raison de l'hypoplasie de l'étage moyen mais les narines sont étroites et les cartilages alaires, hypoplasiques. La bouche est trop grande et des fissures borgnes s'ouvrent entre les commissures et les oreilles. Les dents sont mal plantées, une division palatine est fréquente. La micrognathie est constante et importante. Le pavillon de l'oreille est malformé, hypoplasique avec une atrésie du canal auditif, des appendices et fistules pré-auriculaires. Ces anomalies s'accompagnent d'altérations des osselets responsables d'une surdité de conduction. [...] La transmission est dominante autosomique à expression très variable.  2, record 33, French, - dysostose%20mandibulo%2Dfaciale

Record 33,  Textual support,  Spanish

Record 34,  Textual support,  English

Record number: 34, Textual support number: 1 DEF

[Any of a group of] hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed cysts within the kidney.  3, record 34, English, - polycystic%20kidney%20disease

Record number: 34, Textual support number: 1 OBS

There is an autosomal recessive form appearing in childhood and a later appearing autosomal dominant form; a similar acquired disease sometimes accompanies end-stage renal disease.  3, record 34, English, - polycystic%20kidney%20disease

Record 34,  Textual support,  French

Record number: 34, Textual support number: 1 DEF

Ensemble de néphropathies (maladies des reins) héréditaires caractérisées par le développement de plusieurs kystes rénaux.  2, record 34, French, - maladie%20polykystique%20des%20reins

Record number: 34, Textual support number: 1 OBS

La polykystose rénale familiale autosomique dominante est une maladie de l'adulte, c'est la forme la plus fréquente. La polykystose rénale familiale autosomique récessive est une maladie de l'enfant, elle est beaucoup plus rare. Il existe également une polykystose acquise : les kystes se développent chez des patients insuffisants rénaux en prédialyse ou en dialyse.  1, record 34, French, - maladie%20polykystique%20des%20reins

Record 34,  Textual support,  Spanish

Record number: 34, Textual support number: 1 DEF

[Enfermedad hereditaria que se caracteriza] por la expansión progresiva de un gran número de quistes fuertemente compactados dentro del riñón.  3, record 34, Spanish, - enfermedad%20renal%20poliqu%C3%ADstica

Record number: 34, Textual support number: 1 CONT

La poliquistosis renal (PR) […] implica la aparición de múltiples quistes en cada riñón que crecen y se multiplican originando un aumento del tamaño renal. El riñón afectado claudica originando una fase terminal de la enfermedad en la que la diálisis y el trasplante renal son las únicas alternativas terapéuticas.  5, record 34, Spanish, - enfermedad%20renal%20poliqu%C3%ADstica

Record number: 34, Textual support number: 1 OBS

[Puede heredarse de forma] autosómica dominante [o] recesiva.  3, record 34, Spanish, - enfermedad%20renal%20poliqu%C3%ADstica

Record 35,  Textual support,  English

Record number: 35, Textual support number: 1 DEF

Type of chondrodystrophy resulting in dwarfism apparent at birth, with disproportionately short extremities, relatively large head, depressed nasal bridge, stubby trident hands, and thoracolumbar kyphosis; due to disordered endochondral ossification of the ends of the long bones; autosomal dominant, with most cases due to fresh mutation.  2, record 35, English, - achondroplasia

Record 35,  Textual support,  French

Record number: 35, Textual support number: 1 DEF

Variété d'ostéochondrodysplasie entraînant un nanisme micromélique sévère reconnu dès la naissance, se transmettant de façon autosomique dominante avec taux de mutations élevé.  3, record 35, French, - achondroplasie

Record 35,  Textual support,  Spanish

Record 36,  Textual support,  English

Record number: 36, Textual support number: 1 DEF

A rare disorder in which the skin, which is neither elastic nor fragile, hangs loosely in redundant folds. It may occur in an acquired or a hereditary form. Autosomal dominant and recessive forms of cutis laxa have been described.  2, record 36, English, - cutis%20laxa

Record 36,  Textual support,  French

Record number: 36, Textual support number: 1 DEF

Affection rare, congénitale ou acquise, caractérisée par une peau extensible, mais pas hyperélastique, formant des plis flasques.  2, record 36, French, - cutis%20laxa

Record number: 36, Textual support number: 1 OBS

La cutis laxa peut être l'unique expression d'une affection transmise de façon autosomique récessive ou être un symptôme accompagnateur d'une neurofibromatose de Recklinghausen.  3, record 36, French, - cutis%20laxa

Record 36,  Textual support,  Spanish

Record 37,  Textual support,  English

Record number: 37, Textual support number: 1 DEF

An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts.  2, record 37, English, - Friedreich%26rsquo%3Bs%20ataxia

Record number: 37, Textual support number: 1 OBS

Clinical manifestations include gait ataxia, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. This condition is associated with a mutation of the frataxin gene on chromosome 9, which codes for a mitochondrial protein.  2, record 37, English, - Friedreich%26rsquo%3Bs%20ataxia

Record 37,  Textual support,  French

Record number: 37, Textual support number: 1 DEF

Maladie héréditaire, transmise sur un mode autosomique récessif, causée par une dégénérescence spinocérébelleuse (atteinte des voies allant du cervelet à la moelle épinière). D'évolution progressive, elle comporte trois syndromes (radiculocordonal postérieur, cérébelleux et pyramidal). Elle est essentiellement caractérisée par des troubles de la marche et de l'équilibre, l'incoordination des membres supérieurs, l'élocution difficile, la faiblesse musculaire.  1, record 37, French, - ataxie%20de%20Friedreich

Record 37,  Textual support,  Spanish

Record 38,  Textual support,  English

Record number: 38, Textual support number: 1 DEF

A rare, slowly progressive hereditary disease transmitted as an autosomal dominant trait, characterized by myotonia followed by atrophy of the muscles(especially those of the face and neck), cataracts, hypogonadism, frontal balding, and cardiac abnormalities.  1, record 38, English, - Steinert%26rsquo%3Bs%20disease

Record 38,  Textual support,  French

Record number: 38, Textual support number: 1 DEF

Affection héréditaire à transmission autosomique dominante, caractérisée par une atrophie musculaire extrême atteignant la face et l'extrémité distale des membres, associée à une myotonie modérée. Les troubles dystrophiques ne sont pas seulement limités au tissu musculaire, mais peuvent aussi atteindre les cheveux (alopécie), le cristallin (cataracte) et les gonades.  1, record 38, French, - maladie%20de%20Steinert

Record number: 38, Textual support number: 1 CONT

Quant aux complications testiculaires de la myopathie myotonique (maladie de Steinert), elles sont tardives et précédées d'une période de fertilité.  1, record 38, French, - maladie%20de%20Steinert

Record 38,  Textual support,  Spanish

Record 39,  Textual support,  English

Record number: 39, Textual support number: 1 DEF

The mutual exchange of fragments between two broken chromosomes, one part of one uniting with part of the other.  2, record 39, English, - reciprocal%20translocation

Record number: 39, Textual support number: 1 CONT

(Autosomal structural rearrangements) A good example of this is the deleted B group chromosome resulting in the "cri du chat". This could arise by at least four different mechanisms which are terminal deletion, interstitial deletion, translocation, and unequal chromatid intrachange, and there are at least eight families in which the mechanism has been shown to be a reciprocal translocation.  2, record 39, English, - reciprocal%20translocation

Record 39,  Textual support,  French

Record number: 39, Textual support number: 1 DEF

Échange de segments chromosomiques entre deux chromosomes non homologues.  1, record 39, French, - translocation%20r%C3%A9ciproque

Record number: 39, Textual support number: 1 CONT

Le plus souvent, il s'agit d'une translocation réciproque entre des fragments terminaux de deux chromosomes non homologues qui ont chacun subi une cassure en un point plus ou moins proche d'une de leurs extrémités.  1, record 39, French, - translocation%20r%C3%A9ciproque

Record 39,  Textual support,  Spanish

Record 40,  Textual support,  English

Record number: 40, Textual support number: 1 DEF

A storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of glucocerebrosidase.  1, record 40, English, - Gaucher%26rsquo%3Bs%20disease

Record number: 40, Textual support number: 1 CONT

[Gaucher's disease] may occur in adults but occurs most severely in infants, in whom cerebroside also accumulates in neurons; marked by hepatosplenomegaly, lymphadenopathy, and bone destruction by characteristic cells containing cytoplasmic tubules; autosomal recessive inheritance.  1, record 40, English, - Gaucher%26rsquo%3Bs%20disease

Record 40,  Textual support,  French

Record number: 40, Textual support number: 1 DEF

Maladie héréditaire du métabolisme des sphingolipides, et génétique de transmission autosomique récessive, due au déficit en b-glucosidase acide. Elle est classée parmi les maladies lysosomales.  2, record 40, French, - maladie%20de%20Gaucher

Record number: 40, Textual support number: 1 OBS

Le déficit enzymatique conduit à l'accumulation pathologique du substrat (glucocérébroside) dans les lysosomes. Cette surcharge métabolique est responsable d'une maladie polyviscérale avec hépatosplénomégalie, infiltration de la moelle osseuse avec anémie et thrombopénie, et atteinte osseuse. L'atteinte neurologique est plus rare, définissant les maladies de Gaucher de type 2 et 3.  1, record 40, French, - maladie%20de%20Gaucher

Record 40,  Textual support,  Spanish

Record 41,  Textual support,  English

Record number: 41, Textual support number: 1 DEF

An autosomal dominant or X-linked disorder in which there isfaulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown.  1, record 41, English, - amelogenesis%20imperfecta

Record 41,  Textual support,  French

Record number: 41, Textual support number: 1 CONT

Les dyschromies intrinsèques sur les dents pulpées peuvent avoir : des étiologies héréditaires (dentinogénèse ou amélogénèse imparfaites) [...]  1, record 41, French, - am%C3%A9log%C3%A9n%C3%A8se%20imparfaite

Record 41,  Textual support,  Spanish

Record 42,  Textual support,  English

Record number: 42, Textual support number: 1 DEF

A rare autosomal recessive disorder due to a virtual absence of catalase activity...  1, record 42, English, - acatalasia

Record 42,  Textual support,  French

Record number: 42, Textual support number: 1 DEF

Enzymopathie congénitale caractérisée par un déficit en catalase dans le sang, et plus généralement dans tous les tissus.  1, record 42, French, - acatalasie

Record 42,  Textual support,  Spanish

Record 43,  Textual support,  English

Record number: 43, Textual support number: 1 DEF

An autosomal recessive disorder characterized by giant platelets with membranes lacking glycoprotein Ib, the probable receptor for plasma von Willebrand's factor; this keeps the platelets from binding the factor, which is necessary for their adhesion to the subendothelial surfaces of blood vessels. Symptoms include mild to moderate mucocutaneous and visceral hemorrhaging, purpura, and prolonged bleeding time.  1, record 43, English, - Bernard%2DSoulier%20syndrome

Record 43,  Textual support,  French

Record number: 43, Textual support number: 1 CONT

En pathologie, la glycoprotéine Ib manque dans la dystrophie thrombocytaire hémorragipare, ou syndrome de Jean Bernard-Soulier avec trouble de l'adhésivité plaquettaire .  1, record 43, French, - dystrophie%20thrombocytaire%20h%C3%A9morragipare

Record 43,  Textual support,  Spanish

Record 44,  Textual support,  English

Record number: 44, Textual support number: 1 DEF

[A form of diabetes insipidus that] is characterized by a decrease in the ability to concentrate urine due to a resistance to ADH [antidiuretic hormone] action in the kidney.  1, record 44, English, - nephrogenic%20diabetes%20insipidus

Record number: 44, Textual support number: 1 OBS

The rare hereditary form of nephrogenic DI is transmitted as an X-linked genetic defect of the V2 receptor gene. A rare autosomal variant is caused by mutation in the aqua porin gene AQP2, a water-channel exclusively expressed in the collecting ducts of the kidney.  1, record 44, English, - nephrogenic%20diabetes%20insipidus

Record 44,  Textual support,  French

Record number: 44, Textual support number: 1 DEF

[Diabète insipide qui] se caractérise par une diminution de la capacité de concentration urinaire résultant d'une résistance rénale à l'action de l'hormone antidiurétique.  1, record 44, French, - diab%C3%A8te%20insipide%20n%C3%A9phrog%C3%A9nique

Record 44,  Textual support,  Spanish

Record 45,  Textual support,  English

Record number: 45, Textual support number: 1 CONT

An inheritable disorder that affects the skeletal system, cardiovascular system, eyes, and to some extent the central nervous system.  1, record 45, English, - Marfan%26rsquo%3Bs%20syndrome

Record number: 45, Textual support number: 1 OBS

Marfan's syndrome is inherited as an autosomal dominant trait. Marfan's syndrome may appear in previously unaffected families as a spontaneous new mutation. The incidence is approximately 1 out of 10, 000 people.  1, record 45, English, - Marfan%26rsquo%3Bs%20syndrome

Record 45,  Textual support,  French

Record number: 45, Textual support number: 1 CONT

On sait que le syndrome de Marfan est principalement dû à des mutations dans le gène FNBN1, aujourd'hui entièrement séquencé, qui code la fibrille de type 1. C'est la déficience en cette glycoprotéine, présente dans tous les tissus de l'organisme, qui entraîne chez les malades, des symptômes divers [...]  1, record 45, French, - syndrome%20de%20Marfan

Record 45,  Textual support,  Spanish

Record 46,  Textual support,  English

Record number: 46, Textual support number: 1 CONT

Primary hemophagocytic lymphohistiocytosis [HLH]... is a heterogeneous autosomal recessive disorder found to be more prevalent with parental consanguinity. [Like secondary hemophagocytic lymphohistiocytosis, it is] characterized by the overwhelming activation of normal T lymphocytes and macrophages, invariably leading to clinical and hematologic alterations and death in the absence of treatment.  1, record 46, English, - primary%20hemophagocytic%20lymphohistiocytosis

Record 46,  Textual support,  French

Record number: 46, Textual support number: 1 CONT

Lymphohistiocytose hémophagocytaire familiale. Cette affection autosomique récessive touche un enfant sur 50 000. Elle se traduit par l'apparition, chez de très jeunes enfants, d'une fièvre associée à une hépatosplénomégalie, une pancytopénie, une hypertriglycéridémie, une hypofibrinogènémie et des troubles neurologiques sévères. La concentration sérique de cytokines pro-inflammatoires [...] est augmentée. Une caractéristique histologique de l'affection est l'accumulation de macrophages et de lymphocytes activés [...], avec images d'hémophagocytose dans la moelle osseuse, la rate, le foie, les ganglions et le système nerveux central.  1, record 46, French, - lymphohistiocytose%20h%C3%A9mophagocytaire%20familiale

Record 46,  Textual support,  Spanish

Record 47,  Textual support,  English

Record number: 47, Textual support number: 1 DEF

An autosomal dominant disease characterized principally by the presence of hamartomas of the brain [called] tubers, retina..., and viscera, mental retardation, seizures, and adenoma sebaceum, and often associated with other skin lesions...  4, record 47, English, - tuberous%20sclerosis%20complex

Record number: 47, Textual support number: 1 OBS

The term tuberous sclerosis complex (TSC) [emphasizes] the variegated nature of [the] manifestations [of the disease].  1, record 47, English, - tuberous%20sclerosis%20complex

Record 47,  Textual support,  French

Record number: 47, Textual support number: 1 DEF

[...] affection héréditaire à transmission autosomique dominante se caractérisant par des lésions cutanées [...] et des lésions cérébrales [...] responsables d'une épilepsie dans plus de 80 % des cas et d'une arriération mentale.  6, record 47, French, - scl%C3%A9rose%20tub%C3%A9reuse%20de%20Bourneville

Record 47,  Textual support,  Spanish

Record 48,  Textual support,  English

Record number: 48, Textual support number: 1 CONT

It is anticipated that replacement gene therapy would be most appropriate for autosomal or sex-linked recessive mutations where loss of the normal gene product results in disease.  2, record 48, English, - replacement%20gene%20therapy

Record 48,  Textual support,  French

Record number: 48, Textual support number: 1 OBS

Théoriquement, la thérapie génique peut revêtir plusieurs formes dont l'addition génique, la modification génique in situ et le remplacement génique. Cependant, dans les applications médicales actuelles du génie génétique, seule l'addition de gènes est praticable.  2, record 48, French, - th%C3%A9rapie%20g%C3%A9nique%20de%20remplacement

Record 48,  Textual support,  Spanish

Record number: 48, Textual support number: 1 CONT

Las bases metodológicas de la terapia génica se sustentan en la inserción de un determinado gen [...] Así, el fin último de todo ello será reemplazar la función alterada, bien mediante la introducción del gen sano y completo, en cuyo caso hablaríamos de terapia génica de adición, o bien mediante la reparación puntual de la mutación con sondas oligonucleotídicas de ácido desoxirribonucleico (ADN) o ribonucleico (ARN), en cuyo caso procederíamos mediante terapia génica de sustitución.  3, record 48, Spanish, - terapia%20g%C3%A9nica%20de%20sustituci%C3%B3n

Record 49,  Textual support,  English

Record number: 49, Textual support number: 1 DEF

A lethal autosomal recessive syndrome associated with oculocutaneous albinism, massive leukocyte inclusions(giant lysosomes), histiocytic infiltrations of multiple body organs, development of pantocytopenia, hepatosplenomegaly, recurrent or persistent bacterial infections, and a possible predisposition to development of malignant lymphoma.  1, record 49, English, - Chediak%2DHigashi%20syndrome

Record 49,  Textual support,  French

Record number: 49, Textual support number: 1 DEF

[...] syndrome de transmission autosomique récessive [...] caractérisé par une anomalie des membranes de certains organites intracytoplasmiques qui fusionnent pour donner les inclusions géantes typiques de l'affection.  1, record 49, French, - maladie%20de%20Chediak%2DHigashi

Record number: 49, Textual support number: 1 OBS

Ce syndrome associe un albinisme partiel oculo-cutané et une susceptibilité aux infections bactériennes liée aux anomalies fonctionnelles des granulocytes. [...] L'évolution est marquée par des infections bactériennes et des épisodes dits de «phase accélérée», caractérisé par une fièvre élevée, une accentuation de la splénomégalie [...].  1, record 49, French, - maladie%20de%20Chediak%2DHigashi

Record 49,  Textual support,  Spanish

Record 50,  Textual support,  English

Record number: 50, Textual support number: 1 DEF

[Any of a] group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.  1, record 50, English, - severe%20combined%20immunologic%20deficiency

Record number: 50, Textual support number: 1 OBS

It is inherited as an X-linked or autosomal recessive defect.  1, record 50, English, - severe%20combined%20immunologic%20deficiency

Record 50,  Textual support,  French

Record number: 50, Textual support number: 1 CONT

l'immunodéficience combinée sévère humaine (SCID-X1), [est] une maladie héréditaire pouvant être létale touchant le chromosome X.  1, record 50, French, - Immunod%C3%A9ficience%20combin%C3%A9e%20grave

Record number: 50, Textual support number: 2 CONT

L'immunodéficience combinée sévère (DICS X1) liée au chromosome X, maladie héréditaire rare [...] ne frappe que les garçons. Caractérisée par l'absence totale de cellules de défense, elle laisse le malade à la merci de la moindre infection, provoquant sa mort en l'absence de greffe de moelle osseuse ou de l'abri en chambre stérile.  2, record 50, French, - Immunod%C3%A9ficience%20combin%C3%A9e%20grave

Record 50,  Textual support,  Spanish

Record 51,  Textual support,  English

Record number: 51, Textual support number: 1 DEF