TERMIUM Plus®
The Government of Canada’s terminology and linguistic data bank.
AUTOSOMAL [89 records]
Record 1 - internal organization data 2024-09-12
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Noonan syndrome
1, record 1, English, Noonan%20syndrome
correct
Record 1, Abbreviations, English
- NS 2, record 1, English, NS
correct
Record 1, Synonyms, English
- Noonan’s syndrome 3, record 1, English, Noonan%26rsquo%3Bs%20syndrome
correct
- NS 3, record 1, English, NS
correct
- NS 3, record 1, English, NS
- pseudo-Turner syndrome 4, record 1, English, pseudo%2DTurner%20syndrome
obsolete
- male Turner syndrome 2, record 1, English, male%20Turner%20syndrome
avoid, see observation, obsolete
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner. At least 8 gene mutations can cause this syndrome, and patient presentation can range from mild to severe. 5, record 1, English, - Noonan%20syndrome
Record number: 1, Textual support number: 1 OBS
male Turner syndrome: An early term for NS, "male Turner syndrome," incorrectly implied that the condition would not be found in females. 2, record 1, English, - Noonan%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Noonan
1, record 1, French, syndrome%20de%20Noonan
correct, masculine noun
Record 1, Abbreviations, French
- SN 2, record 1, French, SN
correct, masculine noun
Record 1, Synonyms, French
- pseudo-Turner 3, record 1, French, pseudo%2DTurner
masculine noun, obsolete
- syndrome de Turner masculin 4, record 1, French, syndrome%20de%20Turner%20masculin
avoid, see observation, masculine noun, obsolete
- syndrome de Turner mâle 5, record 1, French, syndrome%20de%20Turner%20m%C3%A2le
avoid, see observation, masculine noun, obsolete
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome de Noonan est un syndrome d'origine génétique qui se manifeste par un aspect particulier des traits du visage, des malformations du cœur et une petite taille. [...] Le syndrome de Noonan touche indifféremment les garçons et les filles. Cette maladie n'est pas spécifique d'une population ou d'une région particulières. [...] Beaucoup de manifestations de la maladie sont présentes dès la naissance, mais elles sont discrètes et peu spécifiques. C'est pourquoi le diagnostic de syndrome de Noonan est souvent tardif (entre 5 et 10 ans) lorsqu'il n'y a pas de rétrécissement de la valve pulmonaire ou de cardiomyopathie. Les particularités du visage s'estompent à l'âge adulte. 6, record 1, French, - syndrome%20de%20Noonan
Record number: 1, Textual support number: 1 OBS
syndrome de Turner masculin; syndrome de Turner mâle : Ces désignations vieillies laissent entendre que les personnes de sexe féminin ne peuvent pas être atteintes de ce syndrome, ce qui est erroné. 7, record 1, French, - syndrome%20de%20Noonan
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2024-09-05
Record 2, English
Record 2, Subject field(s)
- Human Diseases
- Nervous System
Universal entry(ies) Record 2
Record 2, Main entry term, English
- Refsum disease
1, record 2, English, Refsum%20disease
correct
Record 2, Abbreviations, English
- RD 2, record 2, English, RD
correct
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. 2, record 2, English, - Refsum%20disease
Record number: 2, 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 2, English, - Refsum%20disease
Record number: 2, Textual support number: 1 OBS
G60.1: code used in the International Statistical Classification of Diseases and Related Health Problems. 3, record 2, English, - Refsum%20disease
Record 2, French
Record 2, Domaine(s)
- Maladies humaines
- Système nerveux
Entrée(s) universelle(s) Record 2
Record 2, Main entry term, French
- maladie de Refsum
1, record 2, French, maladie%20de%20Refsum
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 OBS
G60.1 : code de la Classification statistique internationale des maladies et des problèmes de santé connexes. 2, record 2, French, - maladie%20de%20Refsum
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Enfermedades humanas
- Sistema nervioso
Entrada(s) universal(es) Record 2
Record 2, Main entry term, Spanish
- enfermedad de Refsum
1, record 2, Spanish, enfermedad%20de%20Refsum
correct, feminine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
Record 2, Textual support, Spanish
Record number: 2, 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 2, Spanish, - enfermedad%20de%20Refsum
Record number: 2, Textual support number: 1 OBS
G60.1: código de la Clasificación Estadística Internacional de Enfermedades y Problemas Relacionados con la Salud. 3, record 2, Spanish, - enfermedad%20de%20Refsum
Record 3 - internal organization data 2024-08-27
Record 3, English
Record 3, Subject field(s)
- Genetics
Record 3, Main entry term, English
- autosomal
1, record 3, English, autosomal
correct, adjective
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
Pertaining to a chromosome that is not a sex chromosome. 2, record 3, English, - autosomal
Record 3, French
Record 3, Domaine(s)
- Génétique
Record 3, Main entry term, French
- autosomique
1, record 3, French, autosomique
correct, adjective
Record 3, Abbreviations, French
Record 3, Synonyms, French
- autosomal 1, record 3, French, autosomal
avoid, anglicism, adjective
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Qui se rapporte à un chromosome qui n'est pas un chromosome sexuel. 2, record 3, French, - autosomique
Record 3, Spanish
Record 3, Campo(s) temático(s)
- Genética
Record 3, Main entry term, Spanish
- autosómico
1, record 3, Spanish, autos%C3%B3mico
correct, adjective
Record 3, Abbreviations, Spanish
Record 3, Synonyms, Spanish
Record 3, Textual support, Spanish
Record number: 3, Textual support number: 1 DEF
De los autosomas o relacionado con ellos. 1, record 3, Spanish, - autos%C3%B3mico
Record number: 3, Textual support number: 1 OBS
autosoma: cualquiera de los cromosomas nucleares, a excepción de los cromosomas sexuales y de los cromosomas accesorios. 1, record 3, Spanish, - autos%C3%B3mico
Record 4 - internal organization data 2023-04-27
Record 4, English
Record 4, Subject field(s)
- Nervous System
Record 4, Main entry term, English
- photic sneeze reflex
1, record 4, English, photic%20sneeze%20reflex
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
- ACHOO syndrome 2, record 4, English, ACHOO%20syndrome
correct
- autosomal cholinergic helio-ophtalmologic outburst syndrome 3, record 4, English, autosomal%20cholinergic%20helio%2Dophtalmologic%20outburst%20syndrome
correct
- autosomal dominant compelling helio-ophthalmic outburst syndrome 4, record 4, English, autosomal%20dominant%20compelling%20helio%2Dophthalmic%20outburst%20syndrome
correct
- sun sneeze 3, record 4, English, sun%20sneeze
correct
Record 4, Textual support, English
Record number: 4, 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 4, English, - photic%20sneeze%20reflex
Record 4, French
Record 4, Domaine(s)
- Système nerveux
Record 4, Main entry term, French
- réflexe photo-sternutatoire
1, record 4, French, r%C3%A9flexe%20photo%2Dsternutatoire
correct, masculine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- éternuement héliotropique 2, record 4, French, %C3%A9ternuement%20h%C3%A9liotropique
correct, masculine noun
Record 4, Textual support, French
Record number: 4, 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 4, French, - r%C3%A9flexe%20photo%2Dsternutatoire
Record 4, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 2019-12-05
Record 5, English
Record 5, Subject field(s)
- Human Diseases - Various
- Genetics
Record 5, Main entry term, English
- Perlman syndrome
1, record 5, English, Perlman%20syndrome
correct
Record 5, Abbreviations, English
Record 5, Synonyms, English
Record 5, Textual support, English
Record number: 5, 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 5, English, - Perlman%20syndrome
Record number: 5, 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 5, English, - Perlman%20syndrome
Record 5, French
Record 5, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 5, Main entry term, French
- syndrome de Perlman
1, record 5, French, syndrome%20de%20Perlman
correct, masculine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
Record 5, Textual support, French
Record number: 5, 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 5, French, - syndrome%20de%20Perlman
Record number: 5, Textual support number: 1 OBS
Des mutations germinales du gène DIS3L2 sont à l'origine de ce syndrome. 3, record 5, French, - syndrome%20de%20Perlman
Record 5, Spanish
Record 5, Textual support, Spanish
Record 6 - internal organization data 2019-12-05
Record 6, English
Record 6, Subject field(s)
- Human Diseases - Various
- Genetics
- Genitourinary Tract
Record 6, Main entry term, English
- Frasier syndrome
1, record 6, English, Frasier%20syndrome
correct
Record 6, Abbreviations, English
- FS 2, record 6, English, FS
correct
Record 6, Synonyms, English
Record 6, Textual support, English
Record number: 6, 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 6, English, - Frasier%20syndrome
Record number: 6, Textual support number: 1 OBS
[Frasier syndrome] is inherited in an autosomal dominant pattern... 3, record 6, English, - Frasier%20syndrome
Record 6, French
Record 6, Domaine(s)
- Maladies humaines diverses
- Génétique
- Appareil génito-urinaire
Record 6, Main entry term, French
- syndrome de Frasier
1, record 6, French, syndrome%20de%20Frasier
correct, masculine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
Record 6, Textual support, French
Record number: 6, 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 6, French, - syndrome%20de%20Frasier
Record 6, Spanish
Record 6, Textual support, Spanish
Record 7 - internal organization data 2019-12-05
Record 7, English
Record 7, Subject field(s)
- Human Diseases - Various
- Genetics
- Musculoskeletal System
Record 7, Main entry term, English
- Muenke syndrome
1, record 7, English, Muenke%20syndrome
correct
Record 7, Abbreviations, English
Record 7, Synonyms, English
Record 7, Textual support, English
Record number: 7, 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 7, English, - Muenke%20syndrome
Record 7, French
Record 7, Domaine(s)
- Maladies humaines diverses
- Génétique
- Appareil locomoteur (Médecine)
Record 7, Main entry term, French
- syndrome de Muenke
1, record 7, French, syndrome%20de%20Muenke
correct, masculine noun
Record 7, Abbreviations, French
Record 7, Synonyms, French
Record 7, Textual support, French
Record number: 7, 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 7, French, - syndrome%20de%20Muenke
Record number: 7, Textual support number: 1 OBS
Une mutation dans [le gène] FGFR3 [...] a également été identifiée dans [...] le syndrome de Muenke [...] 3, record 7, French, - syndrome%20de%20Muenke
Record 7, Spanish
Record 7, Textual support, Spanish
Record 8 - internal organization data 2019-11-28
Record 8, English
Record 8, Subject field(s)
- Human Diseases - Various
- Genetics
Record 8, Main entry term, English
- Alström syndrome
1, record 8, English, Alstr%C3%B6m%20syndrome
correct
Record 8, Abbreviations, English
- AS 2, record 8, English, AS
correct
Record 8, Synonyms, English
Record 8, Textual support, English
Record number: 8, 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 8, English, - Alstr%C3%B6m%20syndrome
Record 8, French
Record 8, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 8, Main entry term, French
- syndrome d'Alström
1, record 8, French, syndrome%20d%27Alstr%C3%B6m
correct, masculine noun
Record 8, Abbreviations, French
- SA 2, record 8, French, SA
masculine noun
Record 8, Synonyms, French
Record 8, Textual support, French
Record number: 8, 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 8, French, - syndrome%20d%27Alstr%C3%B6m
Record 8, Spanish
Record 8, Textual support, Spanish
Record 9 - internal organization data 2019-11-28
Record 9, English
Record 9, Subject field(s)
- Human Diseases - Various
- Genetics
- The Thyroid
- Hearing
Record 9, Main entry term, English
- Pendred syndrome
1, record 9, English, Pendred%20syndrome
correct
Record 9, Abbreviations, English
- PDS 2, record 9, English, PDS
correct
- PS 3, record 9, English, PS
correct
Record 9, Synonyms, English
- Pendred’s syndrome 4, record 9, English, Pendred%26rsquo%3Bs%20syndrome
correct
- PDS 5, record 9, English, PDS
correct
- PS 5, record 9, English, PS
correct
- PDS 5, record 9, English, PDS
Record 9, Textual support, English
Record number: 9, 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 9, English, - Pendred%20syndrome
Record 9, French
Record 9, Domaine(s)
- Maladies humaines diverses
- Génétique
- Thyroïde
- Ouïe
Record 9, Main entry term, French
- syndrome de Pendred
1, record 9, French, syndrome%20de%20Pendred
correct, masculine noun
Record 9, Abbreviations, French
- SP 2, record 9, French, SP
masculine noun
Record 9, Synonyms, French
Record 9, Textual support, French
Record number: 9, 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 9, French, - syndrome%20de%20Pendred
Record 9, Spanish
Record 9, Textual support, Spanish
Record 10 - internal organization data 2019-11-21
Record 10, English
Record 10, Subject field(s)
- Human Diseases - Various
- Genetics
Record 10, Main entry term, English
- Griscelli syndrome
1, record 10, English, Griscelli%20syndrome
correct
Record 10, Abbreviations, English
- GS 2, record 10, English, GS
correct
Record 10, Synonyms, English
Record 10, Textual support, English
Record number: 10, Textual support number: 1 DEF
[A] rare, autosomal recessive disease of partial albinism and variable immunodeficiency [or neurological impairment]. 3, record 10, English, - Griscelli%20syndrome
Record 10, French
Record 10, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 10, Main entry term, French
- syndrome de Griscelli
1, record 10, French, syndrome%20de%20Griscelli
correct, masculine noun
Record 10, Abbreviations, French
- SG 1, record 10, French, SG
correct, masculine noun
Record 10, Synonyms, French
Record 10, Textual support, French
Record number: 10, 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 10, French, - syndrome%20de%20Griscelli
Record 10, Spanish
Record 10, Textual support, Spanish
Record 11 - internal organization data 2019-11-18
Record 11, English
Record 11, Subject field(s)
- Human Diseases - Various
- Genetics
Record 11, Main entry term, English
- Cohen syndrome
1, record 11, English, Cohen%20syndrome
correct
Record 11, Abbreviations, English
- CS 2, record 11, English, CS
correct
Record 11, Synonyms, English
- Pepper syndrome 3, record 11, English, Pepper%20syndrome
- Cervenka syndrome 4, record 11, English, Cervenka%20syndrome
Record 11, Textual support, English
Record number: 11, 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 11, English, - Cohen%20syndrome
Record 11, French
Record 11, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 11, Main entry term, French
- syndrome de Cohen
1, record 11, French, syndrome%20de%20Cohen
correct, masculine noun
Record 11, Abbreviations, French
- SC 2, record 11, French, SC
correct, masculine noun
Record 11, Synonyms, French
Record 11, Textual support, French
Record number: 11, 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 11, French, - syndrome%20de%20Cohen
Record 11, Spanish
Record 11, Textual support, Spanish
Record 12 - internal organization data 2019-09-23
Record 12, English
Record 12, Subject field(s)
- Human Diseases
- Nervous System
- Genetics
Record 12, Main entry term, English
- ataxia-telangiectasia
1, record 12, English, ataxia%2Dtelangiectasia
correct
Record 12, Abbreviations, English
- A-T 2, record 12, English, A%2DT
correct
Record 12, Synonyms, English
- ataxia-telangiectasia syndrome 3, record 12, English, ataxia%2Dtelangiectasia%20syndrome
correct
- Louis-Bar syndrome 4, record 12, English, Louis%2DBar%20syndrome
correct
- Louis-Bar disease 5, record 12, English, Louis%2DBar%20disease
correct
- cephalo-oculocutaneous telangiectasis 6, record 12, English, cephalo%2Doculocutaneous%20telangiectasis
correct
- Boder-Sedgwick syndrome 7, record 12, English, Boder%2DSedgwick%20syndrome
correct
- ATM syndrome 7, record 12, English, ATM%20syndrome
Record 12, Textual support, English
Record number: 12, 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 12, English, - ataxia%2Dtelangiectasia
Record 12, French
Record 12, Domaine(s)
- Maladies humaines
- Système nerveux
- Génétique
Record 12, Main entry term, French
- ataxie-télangiectasie
1, record 12, French, ataxie%2Dt%C3%A9langiectasie
correct, feminine noun
Record 12, Abbreviations, French
- A-T 2, record 12, French, A%2DT
correct, feminine noun
Record 12, Synonyms, French
- syndrome d'ataxie-télangiectasie 3, record 12, French, syndrome%20d%27ataxie%2Dt%C3%A9langiectasie
correct, masculine noun
- syndrome de Louis-Bar 4, record 12, French, syndrome%20de%20Louis%2DBar
correct, masculine noun
- ataxie-télangiectasies 5, record 12, French, ataxie%2Dt%C3%A9langiectasies
correct, feminine noun
- AT 5, record 12, French, AT
correct, feminine noun
- AT 5, record 12, French, AT
- ataxie télangiectasique 6, record 12, French, ataxie%20t%C3%A9langiectasique
correct, feminine noun
Record 12, Textual support, French
Record number: 12, 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 12, French, - ataxie%2Dt%C3%A9langiectasie
Record 12, Spanish
Record 12, Campo(s) temático(s)
- Enfermedades humanas
- Sistema nervioso
- Genética
Record 12, Main entry term, Spanish
- ataxia telangiectasia
1, record 12, Spanish, ataxia%20telangiectasia
correct, feminine noun
Record 12, Abbreviations, Spanish
Record 12, Synonyms, Spanish
- síndrome de Louis-Bar 1, record 12, Spanish, s%C3%ADndrome%20de%20Louis%2DBar
correct, masculine noun
Record 12, Textual support, Spanish
Record 13 - internal organization data 2019-09-10
Record 13, English
Record 13, Subject field(s)
- Human Diseases - Various
- Epidermis and Dermis
Record 13, Main entry term, English
- recessive dystrophic epidermolysis bullosa
1, record 13, English, recessive%20dystrophic%20epidermolysis%20bullosa
correct
Record 13, Abbreviations, English
- RDEB 1, record 13, English, RDEB
correct
Record 13, Synonyms, English
Record 13, Textual support, English
Record number: 13, 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 13, English, - recessive%20dystrophic%20epidermolysis%20bullosa
Record number: 13, 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 13, English, - recessive%20dystrophic%20epidermolysis%20bullosa
Record 13, French
Record 13, Domaine(s)
- Maladies humaines diverses
- Épiderme et derme
Record 13, Main entry term, French
- épidermolyse bulleuse dystrophique récessive
1, record 13, French, %C3%A9pidermolyse%20bulleuse%20dystrophique%20r%C3%A9cessive
correct, feminine noun
Record 13, Abbreviations, French
- EBDR 1, record 13, French, EBDR
correct, feminine noun
Record 13, Synonyms, French
Record 13, Textual support, French
Record number: 13, 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 13, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique%20r%C3%A9cessive
Record 13, Spanish
Record 13, Textual support, Spanish
Record 14 - internal organization data 2019-09-10
Record 14, English
Record 14, Subject field(s)
- Human Diseases - Various
- Epidermis and Dermis
Record 14, Main entry term, English
- dominant dystrophic epidermolysis bullosa
1, record 14, English, dominant%20dystrophic%20epidermolysis%20bullosa
correct
Record 14, Abbreviations, English
- DDEB 1, record 14, English, DDEB
correct
Record 14, Synonyms, English
Record 14, Textual support, English
Record number: 14, 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 14, English, - dominant%20dystrophic%20epidermolysis%20bullosa
Record number: 14, 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 14, English, - dominant%20dystrophic%20epidermolysis%20bullosa
Record 14, French
Record 14, Domaine(s)
- Maladies humaines diverses
- Épiderme et derme
Record 14, Main entry term, French
- épidermolyse bulleuse dystrophique dominante
1, record 14, French, %C3%A9pidermolyse%20bulleuse%20dystrophique%20dominante
correct, feminine noun
Record 14, Abbreviations, French
- EBDD 1, record 14, French, EBDD
correct, feminine noun
Record 14, Synonyms, French
Record 14, Textual support, French
Record number: 14, 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 14, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique%20dominante
Record 14, Spanish
Record 14, Textual support, Spanish
Record 15 - internal organization data 2019-02-13
Record 15, English
Record 15, Subject field(s)
- Human Diseases
- Genetics
Record 15, Main entry term, English
- Cowden disease
1, record 15, English, Cowden%20disease
correct
Record 15, Abbreviations, English
- CD 2, record 15, English, CD
correct
Record 15, Synonyms, English
- Cowden’s disease 3, record 15, English, Cowden%26rsquo%3Bs%20disease
correct
- Cowden syndrome 4, record 15, English, Cowden%20syndrome
correct
- CS 4, record 15, English, CS
correct
- CS 4, record 15, English, CS
- hamartoma syndrome 5, record 15, English, hamartoma%20syndrome
correct
- multiple hamartoma syndrome 6, record 15, English, multiple%20hamartoma%20syndrome
correct
Record 15, Textual support, English
Record number: 15, 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 15, English, - Cowden%20disease
Record number: 15, Textual support number: 1 CONT
Cowden syndrome is caused by a mutation in the PTEN tumour suppressor gene. 8, record 15, English, - Cowden%20disease
Record 15, French
Record 15, Domaine(s)
- Maladies humaines
- Génétique
Record 15, Main entry term, French
- maladie de Cowden
1, record 15, French, maladie%20de%20Cowden
correct, feminine noun
Record 15, Abbreviations, French
Record 15, Synonyms, French
- syndrome de Cowden 2, record 15, French, syndrome%20de%20Cowden
correct, masculine noun
- syndrome des hamartomes multiples 3, record 15, French, syndrome%20des%20hamartomes%20multiples
correct, masculine noun
Record 15, Textual support, French
Record number: 15, 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 15, French, - maladie%20de%20Cowden
Record number: 15, Textual support number: 1 CONT
Le syndrome de Cowden est causé par une mutation du gène PTEN, un gène suppresseur de tumeur. 5, record 15, French, - maladie%20de%20Cowden
Record 15, Spanish
Record 15, Textual support, Spanish
Record 16 - internal organization data 2018-02-21
Record 16, English
Record 16, Subject field(s)
- Visual Disorders
Record 16, Main entry term, English
- Best disease
1, record 16, English, Best%20disease
correct
Record 16, Abbreviations, English
Record 16, Synonyms, English
- Best’s disease 2, record 16, English, Best%26rsquo%3Bs%20disease
correct
- vitelliform degeneration 3, record 16, English, vitelliform%20degeneration
correct
- vitelliform macular degeneration 4, record 16, English, vitelliform%20macular%20degeneration
correct
- vitelliform macular dystrophy 3, record 16, English, vitelliform%20macular%20dystrophy
Record 16, Textual support, English
Record number: 16, 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 16, English, - Best%20disease
Record 16, French
Record 16, Domaine(s)
- Troubles de la vision
Record 16, Main entry term, French
- maladie de Best
1, record 16, French, maladie%20de%20Best
correct, feminine noun
Record 16, Abbreviations, French
Record 16, Synonyms, French
- dégénérescence vitelliforme 2, record 16, French, d%C3%A9g%C3%A9n%C3%A9rescence%20vitelliforme
correct, feminine noun
- dystrophie vitelliforme de la macula 2, record 16, French, dystrophie%20vitelliforme%20de%20la%20macula
feminine noun
- dystrophie maculaire vitelliforme 2, record 16, French, dystrophie%20maculaire%20vitelliforme
feminine noun
- dégénérescence maculaire de Best 3, record 16, French, d%C3%A9g%C3%A9n%C3%A9rescence%20maculaire%20de%20Best
feminine noun
Record 16, Textual support, French
Record number: 16, 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 16, French, - maladie%20de%20Best
Record 16, Spanish
Record 16, Campo(s) temático(s)
- Trastornos de la visión
Record 16, Main entry term, Spanish
- enfermedad de Best
1, record 16, Spanish, enfermedad%20de%20Best
correct, feminine noun
Record 16, Abbreviations, Spanish
Record 16, Synonyms, Spanish
- distrofia macular viteliforme de Best 1, record 16, Spanish, distrofia%20macular%20viteliforme%20de%20Best
correct, feminine noun
- DMVB 1, record 16, Spanish, DMVB
correct, feminine noun
- DMVB 1, record 16, Spanish, DMVB
- distrofia viteliforme de Best 1, record 16, Spanish, distrofia%20viteliforme%20de%20Best
correct, feminine noun
Record 16, Textual support, Spanish
Record number: 16, 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 16, Spanish, - enfermedad%20de%20Best
Record 17 - internal organization data 2017-05-11
Record 17, English
Record 17, Subject field(s)
- The Eye
Record 17, Main entry term, English
- aniridia
1, record 17, English, aniridia
correct
Record 17, Abbreviations, English
Record 17, Synonyms, English
- irideremia 2, record 17, English, irideremia
Record 17, Textual support, English
Record number: 17, Textual support number: 1 DEF
Complete or partial absence of the iris, usually of autosomal dominant inheritance. 2, record 17, English, - aniridia
Record 17, French
Record 17, Domaine(s)
- Oeil
Record 17, Main entry term, French
- aniridie
1, record 17, French, aniridie
correct, feminine noun
Record 17, Abbreviations, French
Record 17, Synonyms, French
Record 17, Textual support, French
Record number: 17, 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 17, French, - aniridie
Record 17, Spanish
Record 17, Campo(s) temático(s)
- Ojo
Record 17, Main entry term, Spanish
- aniridia
1, record 17, Spanish, aniridia
correct, feminine noun
Record 17, Abbreviations, Spanish
Record 17, Synonyms, Spanish
- irideremia 1, record 17, Spanish, irideremia
Record 17, Textual support, Spanish
Record number: 17, Textual support number: 1 DEF
Ausencia del iris congénita o adquirida. 1, record 17, Spanish, - aniridia
Record 18 - internal organization data 2017-04-26
Record 18, English
Record 18, Subject field(s)
- Genetics
Universal entry(ies) Record 18
Record 18, Main entry term, English
- Franceschetti’s disease 1, record 18, English, Franceschetti%26rsquo%3Bs%20disease
Record 18, Abbreviations, English
Record 18, Synonyms, English
Record 18, Textual support, English
Record number: 18, 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 18, English, - Franceschetti%26rsquo%3Bs%20disease
Record number: 18, Textual support number: 1 CONT
(Trisomy 18) Finally, the small lower jaw gives a receding chin suggestive of Franceschetti’s disease. 1, record 18, English, - Franceschetti%26rsquo%3Bs%20disease
Record 18, French
Record 18, Domaine(s)
- Génétique
Entrée(s) universelle(s) Record 18
Record 18, Main entry term, French
- maladie de Franceschetti
1, record 18, French, maladie%20de%20Franceschetti
feminine noun
Record 18, Abbreviations, French
Record 18, Synonyms, French
- fundus flavimaculatus de Franceschetti et François 1, record 18, French, fundus%20flavimaculatus%20de%20Franceschetti%20et%20Fran%C3%A7ois
Record 18, Textual support, French
Record number: 18, 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 18, French, - maladie%20de%20Franceschetti
Record number: 18, 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 18, French, - maladie%20de%20Franceschetti
Record 18, Spanish
Record 18, Textual support, Spanish
Record 19 - internal organization data 2015-08-13
Record 19, English
Record 19, Subject field(s)
- Genetics
- Dactyloscopy
Record 19, Main entry term, English
- adermatoglyphia
1, record 19, English, adermatoglyphia
correct
Record 19, Abbreviations, English
- ADG 2, record 19, English, ADG
correct
Record 19, Synonyms, English
- autosomal dominant adermatoglyphia 3, record 19, English, autosomal%20dominant%20adermatoglyphia
correct
- ADG 3, record 19, English, ADG
correct
- ADG 3, record 19, English, ADG
- immigration delay disease 4, record 19, English, immigration%20delay%20disease
correct
Record 19, Textual support, English
Record number: 19, Textual support number: 1 DEF
[An] extremely rare genetic disorder which causes a person to have no fingerprints. 5, record 19, English, - adermatoglyphia
Record number: 19, 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 19, English, - adermatoglyphia
Record number: 19, 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 19, English, - adermatoglyphia
Record 19, French
Record 19, Domaine(s)
- Génétique
- Dactyloscopie
Record 19, Main entry term, French
- adermatoglyphie
1, record 19, French, adermatoglyphie
correct, feminine noun
Record 19, Abbreviations, French
- ADG 2, record 19, French, ADG
correct, feminine noun
Record 19, Synonyms, French
- maladie de l'immigration retardée 2, record 19, French, maladie%20de%20l%27immigration%20retard%C3%A9e
correct, feminine noun
Record 19, Textual support, French
Record number: 19, 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 19, French, - adermatoglyphie
Record 19, Spanish
Record 19, Textual support, Spanish
Record 20 - internal organization data 2014-05-02
Record 20, English
Record 20, Subject field(s)
- Human Diseases - Various
Record 20, Main entry term, English
- Carney complex
1, record 20, English, Carney%20complex
correct
Record 20, Abbreviations, English
Record 20, Synonyms, English
- Carney syndrome 2, record 20, English, Carney%20syndrome
correct
Record 20, Textual support, English
Record number: 20, 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 20, English, - Carney%20complex
Record 20, French
Record 20, Domaine(s)
- Maladies humaines diverses
Record 20, Main entry term, French
- complexe de Carney
1, record 20, French, complexe%20de%20Carney
correct, masculine noun
Record 20, Abbreviations, French
Record 20, Synonyms, French
- syndrome de Carney 2, record 20, French, syndrome%20de%20Carney
correct, masculine noun
Record 20, Textual support, French
Record number: 20, 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 20, French, - complexe%20de%20Carney
Record number: 20, 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 20, French, - complexe%20de%20Carney
Record 20, Spanish
Record 20, Textual support, Spanish
Record 21 - internal organization data 2013-11-15
Record 21, English
Record 21, Subject field(s)
- Genetics
Record 21, Main entry term, English
- autosomal dominant trait
1, record 21, English, autosomal%20dominant%20trait
correct
Record 21, Abbreviations, English
Record 21, Synonyms, English
- autosomal-dominant trait 2, record 21, English, autosomal%2Ddominant%20trait
correct
Record 21, Textual support, English
Record number: 21, 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 21, English, - autosomal%20dominant%20trait
Record 21, French
Record 21, Domaine(s)
- Génétique
Record 21, Main entry term, French
- caractère autosomique dominant
1, record 21, French, caract%C3%A8re%20autosomique%20dominant
correct, masculine noun
Record 21, Abbreviations, French
Record 21, Synonyms, French
- caractère dominant autosomique 2, record 21, French, caract%C3%A8re%20dominant%20autosomique
correct, masculine noun
Record 21, Textual support, French
Record number: 21, 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 21, French, - caract%C3%A8re%20autosomique%20dominant
Record 21, Spanish
Record 21, Textual support, Spanish
Record 22 - internal organization data 2013-10-24
Record 22, English
Record 22, Subject field(s)
- Genetics
- Cytology
- Molecular Biology
Record 22, Main entry term, English
- disomy
1, record 22, English, disomy
correct
Record 22, Abbreviations, English
Record 22, Synonyms, English
Record 22, Textual support, English
Record number: 22, Textual support number: 1 DEF
The presence in a cell of a pair of chromosomes of a specified kind. 2, record 22, English, - disomy
Record number: 22, 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 22, English, - disomy
Record 22, French
Record 22, Domaine(s)
- Génétique
- Cytologie
- Biologie moléculaire
Record 22, Main entry term, French
- disomie
1, record 22, French, disomie
correct, feminine noun
Record 22, Abbreviations, French
Record 22, Synonyms, French
Record 22, Textual support, French
Record number: 22, Textual support number: 1 DEF
Caractéristique des couples de chromosomes homologues dans le caryotype des cellules diploïdes. 2, record 22, French, - disomie
Record 22, Spanish
Record 22, Campo(s) temático(s)
- Genética
- Citología
- Biología molecular
Record 22, Main entry term, Spanish
- disomía
1, record 22, Spanish, disom%C3%ADa
correct, feminine noun
Record 22, Abbreviations, Spanish
Record 22, Synonyms, Spanish
Record 22, Textual support, Spanish
Record number: 22, Textual support number: 1 DEF
Presencia de dos cromosomas homólogos específicos. 2, record 22, Spanish, - disom%C3%ADa
Record 23 - internal organization data 2013-07-29
Record 23, English
Record 23, Subject field(s)
- Human Diseases - Various
- Genetics
Record 23, Main entry term, English
- cystinosis
1, record 23, English, cystinosis
correct
Record 23, Abbreviations, English
Record 23, Synonyms, English
- Lignac-Fanconi disease 2, record 23, English, Lignac%2DFanconi%20disease
correct
Record 23, Textual support, English
Record number: 23, 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 23, English, - cystinosis
Record 23, French
Record 23, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 23, Main entry term, French
- cystinose
1, record 23, French, cystinose
correct, feminine noun
Record 23, Abbreviations, French
Record 23, Synonyms, French
- maladie de Lignac-Fanconi 1, record 23, French, maladie%20de%20Lignac%2DFanconi
correct, feminine noun
Record 23, Textual support, French
Record number: 23, 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 23, French, - cystinose
Record 23, Spanish
Record 23, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 23, Main entry term, Spanish
- cistinosis
1, record 23, Spanish, cistinosis
correct, feminine noun
Record 23, Abbreviations, Spanish
Record 23, Synonyms, Spanish
- enfermedad de Lignac-Fanconi 1, record 23, Spanish, enfermedad%20de%20Lignac%2DFanconi
correct, feminine noun
Record 23, Textual support, Spanish
Record number: 23, 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 23, Spanish, - cistinosis
Record 24 - internal organization data 2013-01-21
Record 24, English
Record 24, Subject field(s)
- Symptoms (Medicine)
- The Pancreas
Record 24, Main entry term, English
- cystic fibrosis
1, record 24, English, cystic%20fibrosis
correct
Record 24, Abbreviations, English
- CF 2, record 24, English, CF
correct
Record 24, Synonyms, English
- mucoviscidosis 3, record 24, English, mucoviscidosis
correct
- fibrocystic disease of the pancreas 4, record 24, English, fibrocystic%20disease%20of%20the%20pancreas
correct
- pancreatic cystic fibrosis 5, record 24, English, pancreatic%20cystic%20fibrosis
correct
Record 24, Textual support, English
Record number: 24, 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 24, English, - cystic%20fibrosis
Record 24, French
Record 24, Domaine(s)
- Symptômes (Médecine)
- Pancréas
Record 24, Main entry term, French
- fibrose kystique
1, record 24, French, fibrose%20kystique
correct, feminine noun
Record 24, Abbreviations, French
Record 24, Synonyms, French
- mucoviscidose 2, record 24, French, mucoviscidose
correct, feminine noun
- fibrose kystique du pancréas 3, record 24, French, fibrose%20kystique%20du%20pancr%C3%A9as
correct, feminine noun
- syndrome d'Andersen 4, record 24, French, syndrome%20d%27Andersen
correct, masculine noun
Record 24, Textual support, French
Record number: 24, 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 24, French, - fibrose%20kystique
Record number: 24, Textual support number: 1 OBS
Toutes les glandes à sécrétion externe sont atteintes. 4, record 24, French, - fibrose%20kystique
Record 24, Spanish
Record 24, Campo(s) temático(s)
- Síntomas (Medicina)
- Páncreas
Record 24, Main entry term, Spanish
- fibrosis quística
1, record 24, Spanish, fibrosis%20qu%C3%ADstica
correct, feminine noun
Record 24, Abbreviations, Spanish
Record 24, Synonyms, Spanish
Record 24, Textual support, Spanish
Record 25 - internal organization data 2012-11-06
Record 25, English
Record 25, Subject field(s)
- The Eye
- Genetics
Record 25, Main entry term, English
- anophthalmia
1, record 25, English, anophthalmia
correct
Record 25, Abbreviations, English
Record 25, Synonyms, English
- anophthalmos 2, record 25, English, anophthalmos
correct
Record 25, Textual support, English
Record number: 25, Textual support number: 1 DEF
The absence of an eye or eyes in the newborn, usually an autosomal recessive genetic condition. 2, record 25, English, - anophthalmia
Record 25, French
Record 25, Domaine(s)
- Oeil
- Génétique
Record 25, Main entry term, French
- anophtalmie
1, record 25, French, anophtalmie
correct, feminine noun
Record 25, Abbreviations, French
Record 25, Synonyms, French
Record 25, Textual support, French
Record number: 25, Textual support number: 1 DEF
Absence congénitale de l'un ou des deux yeux. 1, record 25, French, - anophtalmie
Record 25, Key term(s)
- cyclopie
Record 25, Spanish
Record 25, Campo(s) temático(s)
- Ojo
- Genética
Record 25, Main entry term, Spanish
- anoftalmía
1, record 25, Spanish, anoftalm%C3%ADa
correct, feminine noun
Record 25, Abbreviations, Spanish
Record 25, Synonyms, Spanish
Record 25, Textual support, Spanish
Record number: 25, Textual support number: 1 DEF
Ausencia congénita de uno o los dos ojos. 1, record 25, Spanish, - anoftalm%C3%ADa
Record 26 - internal organization data 2012-10-29
Record 26, English
Record 26, Subject field(s)
- Genetics
Record 26, Main entry term, English
- Cockayne syndrome
1, record 26, English, Cockayne%20syndrome
correct
Record 26, Abbreviations, English
Record 26, Synonyms, English
- Cockayne’s syndrome 2, record 26, English, Cockayne%26rsquo%3Bs%20syndrome
correct
Record 26, Textual support, English
Record number: 26, 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 26, English, - Cockayne%20syndrome
Record 26, French
Record 26, Domaine(s)
- Génétique
Record 26, Main entry term, French
- syndrome de Cockayne
1, record 26, French, syndrome%20de%20Cockayne
correct, masculine noun
Record 26, Abbreviations, French
Record 26, Synonyms, French
Record 26, Textual support, French
Record number: 26, 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 26, French, - syndrome%20de%20Cockayne
Record 26, Spanish
Record 26, Campo(s) temático(s)
- Genética
Record 26, Main entry term, Spanish
- síndrome de Cockayne
1, record 26, Spanish, s%C3%ADndrome%20de%20Cockayne
correct, masculine noun
Record 26, Abbreviations, Spanish
Record 26, Synonyms, Spanish
Record 26, Textual support, Spanish
Record number: 26, 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 26, Spanish, - s%C3%ADndrome%20de%20Cockayne
Record 27 - internal organization data 2012-09-24
Record 27, English
Record 27, Subject field(s)
- Visual Disorders
Record 27, Main entry term, English
- tritanomaly
1, record 27, English, tritanomaly
correct
Record 27, Abbreviations, English
Record 27, Synonyms, English
Record 27, Textual support, English
Record number: 27, Textual support number: 1 DEF
The color blindness in which the sensory mechanisms for blue and yellow are defective. 1, record 27, English, - tritanomaly
Record number: 27, Textual support number: 1 OBS
It occurs both as an autosomal dominant and a less severe X-linked trait. 1, record 27, English, - tritanomaly
Record 27, French
Record 27, Domaine(s)
- Troubles de la vision
Record 27, Main entry term, French
- tritanomalie
1, record 27, French, tritanomalie
correct, feminine noun
Record 27, Abbreviations, French
Record 27, Synonyms, French
Record 27, Textual support, French
Record number: 27, Textual support number: 1 DEF
Déficience de perception visuelle du bleu. 1, record 27, French, - tritanomalie
Record 27, Key term(s)
- tritanomalopie
Record 27, Spanish
Record 27, Campo(s) temático(s)
- Trastornos de la visión
Record 27, Main entry term, Spanish
- tritanomalía
1, record 27, Spanish, tritanomal%C3%ADa
correct, feminine noun
Record 27, Abbreviations, Spanish
Record 27, Synonyms, Spanish
Record 27, Textual support, Spanish
Record number: 27, Textual support number: 1 DEF
Debilidad para el [color] azul-amarillo. 1, record 27, Spanish, - tritanomal%C3%ADa
Record 28 - internal organization data 2012-07-20
Record 28, English
Record 28, Subject field(s)
- Human Diseases - Various
- Genetics
Record 28, Main entry term, English
- Alagille syndrome
1, record 28, English, Alagille%20syndrome
correct
Record 28, Abbreviations, English
Record 28, Synonyms, English
Record 28, Textual support, English
Record number: 28, 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 28, English, - Alagille%20syndrome
Record number: 28, 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 28, English, - Alagille%20syndrome
Record 28, French
Record 28, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 28, Main entry term, French
- syndrome d'Alagille
1, record 28, French, syndrome%20d%27Alagille
correct, masculine noun
Record 28, Abbreviations, French
Record 28, Synonyms, French
Record 28, Textual support, French
Record number: 28, 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 28, French, - syndrome%20d%27Alagille
Record 28, Spanish
Record 28, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 28, Main entry term, Spanish
- síndrome de Alagille
1, record 28, Spanish, s%C3%ADndrome%20de%20Alagille
correct, masculine noun
Record 28, Abbreviations, Spanish
Record 28, Synonyms, Spanish
Record 28, Textual support, Spanish
Record number: 28, Textual support number: 1 DEF
Trastorno genético, autosómico dominante, [...] se caracteriza por anomalías hepáticas, esqueléticas, renales, oculares, cardiovasculares y dismorfias faciales. 1, record 28, Spanish, - s%C3%ADndrome%20de%20Alagille
Record 29 - internal organization data 2012-07-18
Record 29, English
Record 29, Subject field(s)
- Symptoms (Medicine)
- Genetics
Record 29, Main entry term, English
- periodic fever
1, record 29, English, periodic%20fever
correct
Record 29, Abbreviations, English
Record 29, Synonyms, English
Record 29, Textual support, English
Record number: 29, 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 29, English, - periodic%20fever
Record number: 29, 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 29, English, - periodic%20fever
Record 29, French
Record 29, Domaine(s)
- Symptômes (Médecine)
- Génétique
Record 29, Main entry term, French
- fièvre périodique héréditaire
1, record 29, French, fi%C3%A8vre%20p%C3%A9riodique%20h%C3%A9r%C3%A9ditaire
correct, feminine noun
Record 29, Abbreviations, French
Record 29, Synonyms, French
Record 29, Textual support, French
Record number: 29, 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 29, French, - fi%C3%A8vre%20p%C3%A9riodique%20h%C3%A9r%C3%A9ditaire
Record 29, Spanish
Record 29, Textual support, Spanish
Record 30 - internal organization data 2012-07-11
Record 30, English
Record 30, Subject field(s)
- Human Diseases - Various
- Nervous System
- Genetics
Record 30, Main entry term, English
- neurofibromatosis 1
1, record 30, English, neurofibromatosis%201
correct
Record 30, Abbreviations, English
- NF1 1, record 30, English, NF1
correct
Record 30, Synonyms, English
- peripheral neurofibromatosis 1, record 30, English, peripheral%20neurofibromatosis
correct
- von Recklinghausen disease 1, record 30, English, von%20Recklinghausen%20disease
correct
Record 30, Textual support, English
Record number: 30, 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 30, English, - neurofibromatosis%201
Record number: 30, 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 30, English, - neurofibromatosis%201
Record number: 30, 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 30, English, - neurofibromatosis%201
Record 30, French
Record 30, Domaine(s)
- Maladies humaines diverses
- Système nerveux
- Génétique
Record 30, Main entry term, French
- neurofibromatose de type I
1, record 30, French, neurofibromatose%20de%20type%20I
correct, feminine noun
Record 30, Abbreviations, French
Record 30, Synonyms, French
- maladie de von Recklinghausen 1, record 30, French, maladie%20de%20von%20Recklinghausen
correct, feminine noun
Record 30, Textual support, French
Record number: 30, 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 30, French, - neurofibromatose%20de%20type%20I
Record number: 30, 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 30, French, - neurofibromatose%20de%20type%20I
Record 30, Spanish
Record 30, Campo(s) temático(s)
- Enfermedades humanas varias
- Sistema nervioso
- Genética
Record 30, Main entry term, Spanish
- neurofibromatosis
1, record 30, Spanish, neurofibromatosis
correct, feminine noun
Record 30, Abbreviations, Spanish
Record 30, Synonyms, Spanish
Record 30, Textual support, Spanish
Record number: 30, 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 30, Spanish, - neurofibromatosis
Record 31 - internal organization data 2012-05-03
Record 31, English
Record 31, Subject field(s)
- Epidemiology
- Genetics
Record 31, Main entry term, English
- familial Creutzfeldt-Jakob disease
1, record 31, English, familial%20Creutzfeldt%2DJakob%20disease
correct
Record 31, Abbreviations, English
- familial CJD 2, record 31, English, familial%20CJD
correct
Record 31, Synonyms, English
Record 31, Textual support, English
Record number: 31, 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 31, English, - familial%20Creutzfeldt%2DJakob%20disease
Record number: 31, 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 31, English, - familial%20Creutzfeldt%2DJakob%20disease
Record 31, French
Record 31, Domaine(s)
- Épidémiologie
- Génétique
Record 31, Main entry term, French
- maladie de Creutzfeldt-Jakob familiale
1, record 31, French, maladie%20de%20Creutzfeldt%2DJakob%20familiale
correct, feminine noun
Record 31, Abbreviations, French
- MCJ familiale 2, record 31, French, MCJ%20familiale
correct, feminine noun
Record 31, Synonyms, French
Record 31, Textual support, French
Record number: 31, 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 31, French, - maladie%20de%20Creutzfeldt%2DJakob%20familiale
Record number: 31, 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 31, French, - maladie%20de%20Creutzfeldt%2DJakob%20familiale
Record 31, Spanish
Record 31, Textual support, Spanish
Record 32 - internal organization data 2012-01-30
Record 32, English
Record 32, Subject field(s)
- Epidermis and Dermis
Record 32, Main entry term, English
- ichthyosis
1, record 32, English, ichthyosis
correct
Record 32, Abbreviations, English
Record 32, Synonyms, English
Record 32, Textual support, English
Record number: 32, Textual support number: 1 DEF
An acquired or cogenital keratinization disorder that is characterized by dryness and fine scaling. 2, record 32, English, - ichthyosis
Record number: 32, 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 32, English, - ichthyosis
Record 32, Key term(s)
- fish-scale disease
- fish-skin disease
Record 32, French
Record 32, Domaine(s)
- Épiderme et derme
Record 32, Main entry term, French
- ichthyose
1, record 32, French, ichthyose
correct, feminine noun
Record 32, Abbreviations, French
Record 32, Synonyms, French
Record 32, Textual support, French
Record number: 32, 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 32, French, - ichthyose
Record number: 32, 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 32, French, - ichthyose
Record 32, Key term(s)
- ichtyose
Record 32, Spanish
Record 32, Campo(s) temático(s)
- Epidermis y dermis
Record 32, Main entry term, Spanish
- ictiosis
1, record 32, Spanish, ictiosis
correct, feminine noun
Record 32, Abbreviations, Spanish
Record 32, Synonyms, Spanish
Record 32, Textual support, Spanish
Record number: 32, Textual support number: 1 DEF
Enfermedad cutánea caracterizada por la sequedad y por la formación de escamas. 1, record 32, Spanish, - ictiosis
Record 33 - internal organization data 2012-01-04
Record 33, English
Record 33, Subject field(s)
- Human Diseases - Various
- The Skin
Record 33, Main entry term, English
- acrokeratosis verruciformis of Hopf
1, record 33, English, acrokeratosis%20verruciformis%20of%20Hopf
correct
Record 33, Abbreviations, English
Record 33, Synonyms, English
- Hopf disease 2, record 33, English, Hopf%20disease
- acrodermatitis verruciformis 3, record 33, English, acrodermatitis%20verruciformis
- acrokeratosis verruciformis 3, record 33, English, acrokeratosis%20verruciformis
- Hopf’s keratosis 3, record 33, English, Hopf%26rsquo%3Bs%20keratosis
- Hopf’s syndrome 3, record 33, English, Hopf%26rsquo%3Bs%20syndrome
Record 33, Textual support, English
Record number: 33, 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 33, English, - acrokeratosis%20verruciformis%20of%20Hopf
Record 33, French
Record 33, Domaine(s)
- Maladies humaines diverses
- Appareil cutané
Record 33, Main entry term, French
- acrokératose verruqueuse
1, record 33, French, acrok%C3%A9ratose%20verruqueuse
correct, feminine noun
Record 33, Abbreviations, French
Record 33, Synonyms, French
- maladie de Hopf 1, record 33, French, maladie%20de%20Hopf
feminine noun
Record 33, Textual support, French
Record number: 33, 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 33, French, - acrok%C3%A9ratose%20verruqueuse
Record 33, Spanish
Record 33, Textual support, Spanish
Record 34 - internal organization data 2011-10-31
Record 34, English
Record 34, Subject field(s)
- Ear, Nose and Larynx (Medicine)
Record 34, Main entry term, English
- mandibulofacial dysostosis
1, record 34, English, mandibulofacial%20dysostosis
correct
Record 34, Abbreviations, English
Record 34, Synonyms, English
Record 34, Textual support, English
Record number: 34, 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 34, English, - mandibulofacial%20dysostosis
Record number: 34, 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 34, English, - mandibulofacial%20dysostosis
Record 34, French
Record 34, Domaine(s)
- Oreille, nez et larynx (Médecine)
Record 34, Main entry term, French
- dysostose mandibulo-faciale
1, record 34, French, dysostose%20mandibulo%2Dfaciale
correct, feminine noun
Record 34, Abbreviations, French
Record 34, Synonyms, French
- dysostose mandibulofaciale 2, record 34, French, dysostose%20mandibulofaciale
correct, feminine noun
Record 34, Textual support, French
Record number: 34, 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 34, French, - dysostose%20mandibulo%2Dfaciale
Record number: 34, 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 34, French, - dysostose%20mandibulo%2Dfaciale
Record 34, Spanish
Record 34, Textual support, Spanish
Record 35 - internal organization data 2011-09-07
Record 35, English
Record 35, Subject field(s)
- Human Diseases - Various
- Urinary Tract
Record 35, Main entry term, English
- polycystic kidney disease
1, record 35, English, polycystic%20kidney%20disease
correct
Record 35, Abbreviations, English
Record 35, Synonyms, English
- polycystic renal disease 1, record 35, English, polycystic%20renal%20disease
correct
- polycystic kidney 2, record 35, English, polycystic%20kidney
correct
Record 35, Textual support, English
Record number: 35, 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 35, English, - polycystic%20kidney%20disease
Record number: 35, 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 35, English, - polycystic%20kidney%20disease
Record 35, French
Record 35, Domaine(s)
- Maladies humaines diverses
- Appareil urinaire
Record 35, Main entry term, French
- maladie polykystique des reins
1, record 35, French, maladie%20polykystique%20des%20reins
correct, feminine noun
Record 35, Abbreviations, French
Record 35, Synonyms, French
- polykystose des reins 1, record 35, French, polykystose%20des%20reins
correct, feminine noun
- polykystose rénale 1, record 35, French, polykystose%20r%C3%A9nale
correct, feminine noun
Record 35, Textual support, French
Record number: 35, Textual support number: 1 DEF
Ensemble de néphropathies (maladies des reins) héréditaires caractérisées par le développement de plusieurs kystes rénaux. 2, record 35, French, - maladie%20polykystique%20des%20reins
Record number: 35, 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 35, French, - maladie%20polykystique%20des%20reins
Record 35, Spanish
Record 35, Campo(s) temático(s)
- Enfermedades humanas varias
- Vías urinarias
Record 35, Main entry term, Spanish
- enfermedad renal poliquística
1, record 35, Spanish, enfermedad%20renal%20poliqu%C3%ADstica
correct, feminine noun
Record 35, Abbreviations, Spanish
- ERP 2, record 35, Spanish, ERP
correct, feminine noun
Record 35, Synonyms, Spanish
- nefropatía poliquística 3, record 35, Spanish, nefropat%C3%ADa%20poliqu%C3%ADstica
correct, feminine noun
- poliquistosis renal 4, record 35, Spanish, poliquistosis%20renal
correct, feminine noun
- PR 5, record 35, Spanish, PR
correct, feminine noun
- PR 5, record 35, Spanish, PR
Record 35, Textual support, Spanish
Record number: 35, 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 35, Spanish, - enfermedad%20renal%20poliqu%C3%ADstica
Record number: 35, 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 35, Spanish, - enfermedad%20renal%20poliqu%C3%ADstica
Record number: 35, Textual support number: 1 OBS
[Puede heredarse de forma] autosómica dominante [o] recesiva. 3, record 35, Spanish, - enfermedad%20renal%20poliqu%C3%ADstica
Record 36 - internal organization data 2011-08-16
Record 36, English
Record 36, Subject field(s)
- Musculoskeletal System
Record 36, Main entry term, English
- achondroplasia
1, record 36, English, achondroplasia
correct
Record 36, Abbreviations, English
Record 36, Synonyms, English
Record 36, Textual support, English
Record number: 36, 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 36, English, - achondroplasia
Record 36, French
Record 36, Domaine(s)
- Appareil locomoteur (Médecine)
Record 36, Main entry term, French
- achondroplasie
1, record 36, French, achondroplasie
correct, feminine noun
Record 36, Abbreviations, French
Record 36, Synonyms, French
- maladie de Parrot 2, record 36, French, maladie%20de%20Parrot
correct, feminine noun
Record 36, Textual support, French
Record number: 36, 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 36, French, - achondroplasie
Record 36, Spanish
Record 36, Campo(s) temático(s)
- Sistema musculoesquelético (Medicina)
Record 36, Main entry term, Spanish
- acondroplasia
1, record 36, Spanish, acondroplasia
correct, feminine noun
Record 36, Abbreviations, Spanish
Record 36, Synonyms, Spanish
Record 36, Textual support, Spanish
Record 37 - internal organization data 2011-07-20
Record 37, English
Record 37, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 37, Main entry term, English
- cutis laxa
1, record 37, English, cutis%20laxa
correct
Record 37, Abbreviations, English
Record 37, Synonyms, English
Record 37, Textual support, English
Record number: 37, 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 37, English, - cutis%20laxa
Record 37, French
Record 37, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 37, Main entry term, French
- cutis laxa
1, record 37, French, cutis%20laxa
correct
Record 37, Abbreviations, French
Record 37, Synonyms, French
Record 37, Textual support, French
Record number: 37, Textual support number: 1 DEF
Affection rare, congénitale ou acquise, caractérisée par une peau extensible, mais pas hyperélastique, formant des plis flasques. 2, record 37, French, - cutis%20laxa
Record number: 37, 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 37, French, - cutis%20laxa
Record 37, Spanish
Record 37, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 37, Main entry term, Spanish
- cutis laxa
1, record 37, Spanish, cutis%20laxa
correct, feminine noun
Record 37, Abbreviations, Spanish
Record 37, Synonyms, Spanish
Record 37, Textual support, Spanish
Record 38 - internal organization data 2011-07-19
Record 38, English
Record 38, Subject field(s)
- Nervous System
Record 38, Main entry term, English
- Friedreich’s ataxia
1, record 38, English, Friedreich%26rsquo%3Bs%20ataxia
correct
Record 38, Abbreviations, English
Record 38, Synonyms, English
- Friedreich’s disease 1, record 38, English, Friedreich%26rsquo%3Bs%20disease
correct
- Friedreich disease 2, record 38, English, Friedreich%20disease
correct
- Friedreich’s hereditary spinal ataxia 2, record 38, English, Friedreich%26rsquo%3Bs%20hereditary%20spinal%20ataxia
- Friedreich hereditary spinal ataxia 2, record 38, English, Friedreich%20hereditary%20spinal%20ataxia
- Friedreich familial ataxia 2, record 38, English, Friedreich%20familial%20ataxia
- Friedreich’s familial ataxia 2, record 38, English, Friedreich%26rsquo%3Bs%20familial%20ataxia
- Friedreich hereditary ataxia 2, record 38, English, Friedreich%20hereditary%20ataxia
- Friedreich’s hereditary ataxia 2, record 38, English, Friedreich%26rsquo%3Bs%20hereditary%20ataxia
- Friedreich spinocerebellar ataxia 2, record 38, English, Friedreich%20spinocerebellar%20ataxia
Record 38, Textual support, English
Record number: 38, 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 38, English, - Friedreich%26rsquo%3Bs%20ataxia
Record number: 38, 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 38, English, - Friedreich%26rsquo%3Bs%20ataxia
Record 38, French
Record 38, Domaine(s)
- Système nerveux
Record 38, Main entry term, French
- ataxie de Friedreich
1, record 38, French, ataxie%20de%20Friedreich
correct, feminine noun
Record 38, Abbreviations, French
Record 38, Synonyms, French
- maladie de Friedreich 1, record 38, French, maladie%20de%20Friedreich
correct, feminine noun
- ataxie héréditaire 1, record 38, French, ataxie%20h%C3%A9r%C3%A9ditaire
correct, feminine noun
Record 38, Textual support, French
Record number: 38, 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 38, French, - ataxie%20de%20Friedreich
Record 38, Spanish
Record 38, Textual support, Spanish
Record 39 - internal organization data 2011-03-17
Record 39, English
Record 39, Subject field(s)
- Genetics
Record 39, Main entry term, English
- Steinert’s disease 1, record 39, English, Steinert%26rsquo%3Bs%20disease
Record 39, Abbreviations, English
Record 39, Synonyms, English
- Batten’s disease 1, record 39, English, Batten%26rsquo%3Bs%20disease
- Batten-Steinert syndrome 1, record 39, English, Batten%2DSteinert%20syndrome
- Curschmann-Batten-Steinert syndrome 1, record 39, English, Curschmann%2DBatten%2DSteinert%20syndrome
- Curschmann-Steinert syndrome 1, record 39, English, Curschmann%2DSteinert%20syndrome
- myotonia atrophica 1, record 39, English, myotonia%20atrophica
- atrophic myotonia 1, record 39, English, atrophic%20myotonia
- myotonic dystrophy 1, record 39, English, myotonic%20dystrophy
- dystrophia myotonica 1, record 39, English, dystrophia%20myotonica
Latin
Record 39, Textual support, English
Record number: 39, 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 39, English, - Steinert%26rsquo%3Bs%20disease
Record 39, French
Record 39, Domaine(s)
- Génétique
Record 39, Main entry term, French
- maladie de Steinert
1, record 39, French, maladie%20de%20Steinert
feminine noun
Record 39, Abbreviations, French
Record 39, Synonyms, French
- atrophie myotonique 1, record 39, French, atrophie%20myotonique
feminine noun
- dystrophie myotonique 1, record 39, French, dystrophie%20myotonique
- myopathie atrophique avec myotonie 1, record 39, French, myopathie%20atrophique%20avec%20myotonie
feminine noun
- myopathie myotonique 1, record 39, French, myopathie%20myotonique
- myotonie atrophique 1, record 39, French, myotonie%20atrophique
feminine noun
- myotonie dystrophique 1, record 39, French, myotonie%20dystrophique
masculine noun
- syndrome de Batten Steinert 1, record 39, French, syndrome%20de%20Batten%20Steinert
masculine noun
- syndrome de Curschmann-Batten-Steinert 1, record 39, French, syndrome%20de%20Curschmann%2DBatten%2DSteinert
- dystrophia myotonica 1, record 39, French, dystrophia%20myotonica
Latin
Record 39, Textual support, French
Record number: 39, 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 39, French, - maladie%20de%20Steinert
Record number: 39, 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 39, French, - maladie%20de%20Steinert
Record 39, Spanish
Record 39, Textual support, Spanish
Record 40 - internal organization data 2011-03-14
Record 40, English
Record 40, Subject field(s)
- Genetics
Record 40, Main entry term, English
- reciprocal translocation
1, record 40, English, reciprocal%20translocation
correct
Record 40, Abbreviations, English
Record 40, Synonyms, English
- interchange 2, record 40, English, interchange
- inter-chromosome rearrangement 2, record 40, English, inter%2Dchromosome%20rearrangement
- mutual translocation 2, record 40, English, mutual%20translocation
Record 40, Textual support, English
Record number: 40, 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 40, English, - reciprocal%20translocation
Record number: 40, 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 40, English, - reciprocal%20translocation
Record 40, French
Record 40, Domaine(s)
- Génétique
Record 40, Main entry term, French
- translocation réciproque
1, record 40, French, translocation%20r%C3%A9ciproque
feminine noun
Record 40, Abbreviations, French
Record 40, Synonyms, French
- modification interchromosomique 1, record 40, French, modification%20interchromosomique
feminine noun
Record 40, Textual support, French
Record number: 40, Textual support number: 1 DEF
Échange de segments chromosomiques entre deux chromosomes non homologues. 1, record 40, French, - translocation%20r%C3%A9ciproque
Record number: 40, 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 40, French, - translocation%20r%C3%A9ciproque
Record 40, Spanish
Record 40, Campo(s) temático(s)
- Genética
Record 40, Main entry term, Spanish
- translocación recíproca
1, record 40, Spanish, translocaci%C3%B3n%20rec%C3%ADproca
correct, feminine noun
Record 40, Abbreviations, Spanish
Record 40, Synonyms, Spanish
Record 40, Textual support, Spanish
Record 41 - internal organization data 2011-02-18
Record 41, English
Record 41, Subject field(s)
- Endocrine System and Metabolism
Record 41, Main entry term, English
- Gaucher’s disease
1, record 41, English, Gaucher%26rsquo%3Bs%20disease
correct
Record 41, Abbreviations, English
Record 41, Synonyms, English
Record 41, Textual support, English
Record number: 41, Textual support number: 1 DEF
A storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of glucocerebrosidase. 1, record 41, English, - Gaucher%26rsquo%3Bs%20disease
Record number: 41, 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 41, English, - Gaucher%26rsquo%3Bs%20disease
Record 41, French
Record 41, Domaine(s)
- Systèmes endocrinien et métabolique
Record 41, Main entry term, French
- maladie de Gaucher
1, record 41, French, maladie%20de%20Gaucher
correct, feminine noun
Record 41, Abbreviations, French
Record 41, Synonyms, French
Record 41, Textual support, French
Record number: 41, 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 41, French, - maladie%20de%20Gaucher
Record number: 41, 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 41, French, - maladie%20de%20Gaucher
Record 41, Spanish
Record 41, Textual support, Spanish
Record 42 - internal organization data 2011-02-16
Record 42, English
Record 42, Subject field(s)
- Dentistry
Record 42, Main entry term, English
- amelogenesis imperfecta
1, record 42, English, amelogenesis%20imperfecta
correct
Record 42, Abbreviations, English
Record 42, Synonyms, English
- hereditary brown enamel. 1, record 42, English, hereditary%20brown%20enamel%2E
correct
Record 42, Textual support, English
Record number: 42, 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 42, English, - amelogenesis%20imperfecta
Record 42, French
Record 42, Domaine(s)
- Dentisterie
Record 42, Main entry term, French
- amélogénèse imparfaite
1, record 42, French, am%C3%A9log%C3%A9n%C3%A8se%20imparfaite
correct, feminine noun
Record 42, Abbreviations, French
Record 42, Synonyms, French
Record 42, Textual support, French
Record number: 42, Textual support number: 1 CONT
Les dyschromies intrinsèques sur les dents pulpées peuvent avoir : des étiologies héréditaires (dentinogénèse ou amélogénèse imparfaites) [...] 1, record 42, French, - am%C3%A9log%C3%A9n%C3%A8se%20imparfaite
Record 42, Spanish
Record 42, Textual support, Spanish
Record 43 - internal organization data 2011-01-19
Record 43, English
Record 43, Subject field(s)
- Symptoms (Medicine)
Record 43, Main entry term, English
- acatalasia
1, record 43, English, acatalasia
correct
Record 43, Abbreviations, English
Record 43, Synonyms, English
- Takahara’s disease 1, record 43, English, Takahara%26rsquo%3Bs%20disease
Record 43, Textual support, English
Record number: 43, Textual support number: 1 DEF
A rare autosomal recessive disorder due to a virtual absence of catalase activity... 1, record 43, English, - acatalasia
Record 43, French
Record 43, Domaine(s)
- Symptômes (Médecine)
Record 43, Main entry term, French
- acatalasie
1, record 43, French, acatalasie
correct, feminine noun
Record 43, Abbreviations, French
Record 43, Synonyms, French
- acatalasémie 1, record 43, French, acatalas%C3%A9mie
feminine noun
Record 43, Textual support, French
Record number: 43, 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 43, French, - acatalasie
Record 43, Spanish
Record 43, Textual support, Spanish
Record 44 - internal organization data 2011-01-05
Record 44, English
Record 44, Subject field(s)
- Blood
- Symptoms (Medicine)
Record 44, Main entry term, English
- Bernard-Soulier syndrome
1, record 44, English, Bernard%2DSoulier%20syndrome
correct
Record 44, Abbreviations, English
- BSS 1, record 44, English, BSS
correct
Record 44, Synonyms, English
- giant platelet syndrome 1, record 44, English, giant%20platelet%20syndrome
correct
Record 44, Textual support, English
Record number: 44, 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 44, English, - Bernard%2DSoulier%20syndrome
Record 44, French
Record 44, Domaine(s)
- Sang
- Symptômes (Médecine)
Record 44, Main entry term, French
- dystrophie thrombocytaire hémorragipare
1, record 44, French, dystrophie%20thrombocytaire%20h%C3%A9morragipare
correct, feminine noun
Record 44, Abbreviations, French
Record 44, Synonyms, French
- syndrome de Jean Bernard-Soulier 1, record 44, French, syndrome%20de%20Jean%20Bernard%2DSoulier
correct, masculine noun
Record 44, Textual support, French
Record number: 44, 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 44, French, - dystrophie%20thrombocytaire%20h%C3%A9morragipare
Record 44, Key term(s)
- maladie de Jean Bernard-Soulier
Record 44, Spanish
Record 44, Textual support, Spanish
Record 45 - internal organization data 2010-09-15
Record 45, English
Record 45, Subject field(s)
- The Pancreas
- Endocrine System and Metabolism
Record 45, Main entry term, English
- nephrogenic diabetes insipidus
1, record 45, English, nephrogenic%20diabetes%20insipidus
correct
Record 45, Abbreviations, English
Record 45, Synonyms, English
- nephrogenic DI 1, record 45, English, nephrogenic%20DI
correct
Record 45, Textual support, English
Record number: 45, 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 45, English, - nephrogenic%20diabetes%20insipidus
Record number: 45, 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 45, English, - nephrogenic%20diabetes%20insipidus
Record 45, French
Record 45, Domaine(s)
- Pancréas
- Systèmes endocrinien et métabolique
Record 45, Main entry term, French
- diabète insipide néphrogénique
1, record 45, French, diab%C3%A8te%20insipide%20n%C3%A9phrog%C3%A9nique
correct, masculine noun
Record 45, Abbreviations, French
Record 45, Synonyms, French
Record 45, Textual support, French
Record number: 45, 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 45, French, - diab%C3%A8te%20insipide%20n%C3%A9phrog%C3%A9nique
Record 45, Spanish
Record 45, Textual support, Spanish
Record 46 - internal organization data 2010-08-06
Record 46, English
Record 46, Subject field(s)
- Genetics
Record 46, Main entry term, English
- Marfan’s syndrome
1, record 46, English, Marfan%26rsquo%3Bs%20syndrome
correct
Record 46, Abbreviations, English
Record 46, Synonyms, English
Record 46, Textual support, English
Record number: 46, 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 46, English, - Marfan%26rsquo%3Bs%20syndrome
Record number: 46, 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 46, English, - Marfan%26rsquo%3Bs%20syndrome
Record 46, French
Record 46, Domaine(s)
- Génétique
Record 46, Main entry term, French
- syndrome de Marfan
1, record 46, French, syndrome%20de%20Marfan
correct, masculine noun
Record 46, Abbreviations, French
Record 46, Synonyms, French
Record 46, Textual support, French
Record number: 46, 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 46, French, - syndrome%20de%20Marfan
Record 46, Spanish
Record 46, Textual support, Spanish
Record 47 - internal organization data 2009-09-25
Record 47, English
Record 47, Subject field(s)
- Human Diseases - Various
- Blood
Record 47, Main entry term, English
- primary hemophagocytic lymphohistiocytosis
1, record 47, English, primary%20hemophagocytic%20lymphohistiocytosis
correct
Record 47, Abbreviations, English
Record 47, Synonyms, English
- familial hemophagocytic lymphohistiocytosis 2, record 47, English, familial%20hemophagocytic%20lymphohistiocytosis
correct
- FHLH 2, record 47, English, FHLH
correct
- FHLH 2, record 47, English, FHLH
- familial HLH 2, record 47, English, familial%20HLH
correct
- primary HLH 3, record 47, English, primary%20HLH
correct
Record 47, Textual support, English
Record number: 47, 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 47, English, - primary%20hemophagocytic%20lymphohistiocytosis
Record 47, French
Record 47, Domaine(s)
- Maladies humaines diverses
- Sang
Record 47, Main entry term, French
- lymphohistiocytose hémophagocytaire familiale
1, record 47, French, lymphohistiocytose%20h%C3%A9mophagocytaire%20familiale
correct, feminine noun
Record 47, Abbreviations, French
- LHF 1, record 47, French, LHF
correct, feminine noun
Record 47, Synonyms, French
- lymphohistiocytose hémophagocytaire primitive 2, record 47, French, lymphohistiocytose%20h%C3%A9mophagocytaire%20primitive
correct, feminine noun, less frequent
Record 47, Textual support, French
Record number: 47, 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 47, French, - lymphohistiocytose%20h%C3%A9mophagocytaire%20familiale
Record 47, Spanish
Record 47, Textual support, Spanish
Record 48 - internal organization data 2009-05-11
Record 48, English
Record 48, Subject field(s)
- Human Diseases - Various
Record 48, Main entry term, English
- tuberous sclerosis complex
1, record 48, English, tuberous%20sclerosis%20complex
correct
Record 48, Abbreviations, English
- TSC 1, record 48, English, TSC
correct
Record 48, Synonyms, English
- tuberous sclerosis 2, record 48, English, tuberous%20sclerosis
correct
- epiloia 2, record 48, English, epiloia
correct
- Bourneville’s disease 3, record 48, English, Bourneville%26rsquo%3Bs%20disease
correct
Record 48, Textual support, English
Record number: 48, 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 48, English, - tuberous%20sclerosis%20complex
Record number: 48, Textual support number: 1 OBS
The term tuberous sclerosis complex (TSC) [emphasizes] the variegated nature of [the] manifestations [of the disease]. 1, record 48, English, - tuberous%20sclerosis%20complex
Record 48, French
Record 48, Domaine(s)
- Maladies humaines diverses
Record 48, Main entry term, French
- sclérose tubéreuse de Bourneville
1, record 48, French, scl%C3%A9rose%20tub%C3%A9reuse%20de%20Bourneville
correct, feminine noun
Record 48, Abbreviations, French
Record 48, Synonyms, French
- maladie de Bourneville 2, record 48, French, maladie%20de%20Bourneville
correct, feminine noun
- sclérose tubéreuse du cerveau 3, record 48, French, scl%C3%A9rose%20tub%C3%A9reuse%20du%20cerveau
correct, feminine noun
- sclérose tubéreuse 4, record 48, French, scl%C3%A9rose%20tub%C3%A9reuse
feminine noun
- épiloïa 5, record 48, French, %C3%A9pilo%C3%AFa
feminine noun
Record 48, Textual support, French
Record number: 48, 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 48, French, - scl%C3%A9rose%20tub%C3%A9reuse%20de%20Bourneville
Record 48, Spanish
Record 48, Textual support, Spanish
Record 49 - internal organization data 2008-10-28
Record 49, English
Record 49, Subject field(s)
- Genetics
- Biotechnology
Record 49, Main entry term, English
- replacement gene therapy
1, record 49, English, replacement%20gene%20therapy
correct
Record 49, Abbreviations, English
Record 49, Synonyms, English
Record 49, Textual support, English
Record number: 49, 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 49, English, - replacement%20gene%20therapy
Record 49, French
Record 49, Domaine(s)
- Génétique
- Biotechnologie
Record 49, Main entry term, French
- thérapie génique de remplacement
1, record 49, French, th%C3%A9rapie%20g%C3%A9nique%20de%20remplacement
correct, feminine noun
Record 49, Abbreviations, French
Record 49, Synonyms, French
Record 49, Textual support, French
Record number: 49, 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 49, French, - th%C3%A9rapie%20g%C3%A9nique%20de%20remplacement
Record 49, Spanish
Record 49, Campo(s) temático(s)
- Genética
- Biotecnología
Record 49, Main entry term, Spanish
- terapia génica de sustitución
1, record 49, Spanish, terapia%20g%C3%A9nica%20de%20sustituci%C3%B3n
correct, feminine noun
Record 49, Abbreviations, Spanish
Record 49, Synonyms, Spanish
- terapia génica de reemplazamiento 2, record 49, Spanish, terapia%20g%C3%A9nica%20de%20reemplazamiento
correct, feminine noun
Record 49, Textual support, Spanish
Record number: 49, 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 49, Spanish, - terapia%20g%C3%A9nica%20de%20sustituci%C3%B3n
Record 50 - internal organization data 2006-05-08
Record 50, English
Record 50, Subject field(s)
- Lymphatic System
- Genetics
Record 50, Main entry term, English
- Chediak-Higashi syndrome 1, record 50, English, Chediak%2DHigashi%20syndrome
Record 50, Abbreviations, English
- CHS 2, record 50, English, CHS
correct
Record 50, Synonyms, English
Record 50, Textual support, English
Record number: 50, 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 50, English, - Chediak%2DHigashi%20syndrome
Record 50, French
Record 50, Domaine(s)
- Système lymphatique
- Génétique
Record 50, Main entry term, French
- maladie de Chediak-Higashi
1, record 50, French, maladie%20de%20Chediak%2DHigashi
feminine noun
Record 50, Abbreviations, French
Record 50, Synonyms, French
Record 50, Textual support, French
Record number: 50, 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 50, French, - maladie%20de%20Chediak%2DHigashi
Record number: 50, 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 50, French, - maladie%20de%20Chediak%2DHigashi
Record 50, Spanish
Record 50, Campo(s) temático(s)
- Sistema linfático
- Genética
Record 50, Main entry term, Spanish
- síndrome de Chédiak-Higashi
1, record 50, Spanish, s%C3%ADndrome%20de%20Ch%C3%A9diak%2DHigashi
correct, masculine noun
Record 50, Abbreviations, Spanish
Record 50, Synonyms, Spanish
Record 50, Textual support, Spanish
Record 51 - internal organization data 2006-05-05
Record 51, English
Record 51, Subject field(s)
- Immunology
Record 51, Main entry term, English
- severe combined immunologic deficiency
1, record 51, English, severe%20combined%20immunologic%20deficiency
correct
Record 51, Abbreviations, English
- SCID 1, record 51, English, SCID
correct
Record 51, Synonyms, English
- severe combined immunodeficiency 1, record 51, English, severe%20combined%20immunodeficiency
correct
- severe combined immunodeficiency syndrome 1, record 51, English, severe%20combined%20immunodeficiency%20syndrome
Record 51, Textual support, English
Record number: 51, 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 51, English, - severe%20combined%20immunologic%20deficiency
Record number: 51, Textual support number: 1 OBS
It is inherited as an X-linked or autosomal recessive defect. 1, record 51, English, - severe%20combined%20immunologic%20deficiency
Record 51, French
Record 51, Domaine(s)
- Immunologie
Record 51, Main entry term, French
- Immunodéficience combinée grave
1, record 51, French, Immunod%C3%A9ficience%20combin%C3%A9e%20grave
correct, feminine noun
Record 51, Abbreviations, French
Record 51, Synonyms, French
- immunodéficience combinée sévère humaine 2, record 51, French, immunod%C3%A9ficience%20combin%C3%A9e%20s%C3%A9v%C3%A8re%20humaine
feminine noun
- immunodéficience combinée sévère 3, record 51, French, immunod%C3%A9ficience%20combin%C3%A9e%20s%C3%A9v%C3%A8re
feminine noun
Record 51, Textual support, French
Record number: 51, 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 51, French, - Immunod%C3%A9ficience%20combin%C3%A9e%20grave
Record number: 51, 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 51, French, - Immunod%C3%A9ficience%20combin%C3%A9e%20grave
Record 51, Spanish
Record 51, Campo(s) temático(s)
- Inmunología
Record 51, Main entry term, Spanish
- inmunodeficiencia combinada grave
1, record 51, Spanish, inmunodeficiencia%20combinada%20grave
correct, feminine noun
Record 51, Abbreviations, Spanish
- SCID 1, record 51, Spanish, SCID
correct, feminine noun
Record 51, Synonyms, Spanish
Record 51, Textual support, Spanish
Record 52 - internal organization data 2003-09-10
Record 52, English
Record 52, Subject field(s)
- Genetics
Record 52, Main entry term, English
- carrier
1, record 52, English, carrier
correct
Record 52, Abbreviations, English
Record 52, Synonyms, English
- genetic carrier 2, record 52, English, genetic%20carrier
correct
Record 52, Textual support, English
Record number: 52, Textual support number: 1 DEF
One who carries a recessive gene, either autosomal or sex-linked, together with its normal allele, i. e., one who is heterozygous for a recessive gene. 3, record 52, English, - carrier
Record 52, French
Record 52, Domaine(s)
- Génétique
Record 52, Main entry term, French
- porteur
1, record 52, French, porteur
correct, masculine noun
Record 52, Abbreviations, French
Record 52, Synonyms, French
Record 52, Textual support, French
Record number: 52, Textual support number: 1 DEF
Individu qui est hétérozygote avec un gène normal et un gène anormal qui n'est pas exprimé phénotypiquement, bien que décelable par des tests de laboratoire appropriés. 2, record 52, French, - porteur
Record 52, Spanish
Record 52, Campo(s) temático(s)
- Genética
Record 52, Main entry term, Spanish
- portador
1, record 52, Spanish, portador
correct, masculine noun
Record 52, Abbreviations, Spanish
Record 52, Synonyms, Spanish
Record 52, Textual support, Spanish
Record 53 - internal organization data 2003-04-17
Record 53, English
Record 53, Subject field(s)
- Genetics
Record 53, Main entry term, English
- accessory chromosome
1, record 53, English, accessory%20chromosome
correct
Record 53, Abbreviations, English
Record 53, Synonyms, English
- B-chromosome 2, record 53, English, B%2Dchromosome
correct
Record 53, Textual support, English
Record number: 53, Textual support number: 1 DEF
Structure in the nucleus of the cell in plants or animals that is... cytologically definable as chromosomes but is... not part of the usual complement of autosomal and sex chromosomes of the organism.... It rarely contains genetic information of importance to the organism, and it is... usually small and heterochromatic. 3, record 53, English, - accessory%20chromosome
Record 53, French
Record 53, Domaine(s)
- Génétique
Record 53, Main entry term, French
- chromosome accessoire
1, record 53, French, chromosome%20accessoire
correct, masculine noun
Record 53, Abbreviations, French
Record 53, Synonyms, French
- chromosome B 2, record 53, French, chromosome%20B
correct, masculine noun
Record 53, Textual support, French
Record number: 53, Textual support number: 1 DEF
Chromosome surnuméraire généralement caractérisé par sa petite taille, sa structure hétérochromatique, sa ségrégation anormale, et son absence apparente de fonction génétique : les quatre caractéristiques ne sont pas forcément réunies simultanément. 3, record 53, French, - chromosome%20accessoire
Record 53, Spanish
Record 53, Campo(s) temático(s)
- Genética
Record 53, Main entry term, Spanish
- cromosoma accesorio
1, record 53, Spanish, cromosoma%20accesorio
correct, masculine noun
Record 53, Abbreviations, Spanish
Record 53, Synonyms, Spanish
- B-cromosoma 2, record 53, Spanish, B%2Dcromosoma
masculine noun
- cromosoma B 3, record 53, Spanish, cromosoma%20B
correct, masculine noun
Record 53, Textual support, Spanish
Record number: 53, Textual support number: 1 DEF
Cromosoma sexual X o Y desparejado. 4, record 53, Spanish, - cromosoma%20accesorio
Record 54 - internal organization data 2002-10-10
Record 54, English
Record 54, Subject field(s)
- Endocrine System and Metabolism
- Dietetics
- Biochemistry
Record 54, Main entry term, English
- lipoproteinosis
1, record 54, English, lipoproteinosis
correct
Record 54, Abbreviations, English
Record 54, Synonyms, English
- lipid proteinosis 1, record 54, English, lipid%20proteinosis
correct
- lipoidosis cutis et mucosae 1, record 54, English, lipoidosis%20cutis%20et%20mucosae
- Urbach-Wiethe disease 1, record 54, English, Urbach%2DWiethe%20disease
Record 54, Textual support, English
Record number: 54, Textual support number: 1 DEF
An autosomal recessive disorder of lipid metabolism characterized by the deposition of hyaline material in the skin and mucosa of the mouth, pharynx, hypopharynx, and larynx, resulting in prolonged hoarseness, often from birth, due to infiltration of the vocal cords. 1, record 54, English, - lipoproteinosis
Record 54, French
Record 54, Domaine(s)
- Systèmes endocrinien et métabolique
- Diététique
- Biochimie
Record 54, Main entry term, French
- lipoïdoprotéinose
1, record 54, French, lipo%C3%AFdoprot%C3%A9inose
correct, feminine noun
Record 54, Abbreviations, French
Record 54, Synonyms, French
- hyalinose cutanée et muqueuse 1, record 54, French, hyalinose%20cutan%C3%A9e%20et%20muqueuse
feminine noun
- maladie d'Urbach-Wiethe 1, record 54, French, maladie%20d%27Urbach%2DWiethe
feminine noun
Record 54, Textual support, French
Record number: 54, Textual support number: 1 DEF
Affection extrêmement rare, congénitale et le plus souvent héréditaire, caractérisée par l'infiltration cutanée et muqueuse d'une substance hyaline de nature chimique complexe. 1, record 54, French, - lipo%C3%AFdoprot%C3%A9inose
Record 54, Spanish
Record 54, Textual support, Spanish
Record 55 - internal organization data 2002-07-30
Record 55, English
Record 55, Subject field(s)
- Endocrine System and Metabolism
Record 55, Main entry term, English
- Hartnup disease
1, record 55, English, Hartnup%20disease
correct
Record 55, Abbreviations, English
Record 55, Synonyms, English
Record 55, Textual support, English
Record number: 55, Textual support number: 1 DEF
An autosomal recessive disorder caused by defective transport of neutral(ie, monoaminomonocarboxylic) amino acids in the small intestine and kidney. 1, record 55, English, - Hartnup%20disease
Record number: 55, Textual support number: 1 OBS
Patients present with a pellagra-like skin eruption, cerebellar ataxia, and gross aminoaciduria. 1, record 55, English, - Hartnup%20disease
Record 55, French
Record 55, Domaine(s)
- Systèmes endocrinien et métabolique
Record 55, Main entry term, French
- maladie de Hartnup
1, record 55, French, maladie%20de%20Hartnup
correct, feminine noun
Record 55, Abbreviations, French
Record 55, Synonyms, French
Record 55, Textual support, French
Record number: 55, Textual support number: 1 DEF
Maladie héréditaire du métabolisme du tryptophane [reproduisant], en partie ou en totalité, les symptômes de la pellagre. 2, record 55, French, - maladie%20de%20Hartnup
Record 55, Spanish
Record 55, Textual support, Spanish
Record 56 - internal organization data 2002-05-27
Record 56, English
Record 56, Subject field(s)
- Endocrine System and Metabolism
- Genetics
Record 56, Main entry term, English
- orotic aciduria
1, record 56, English, orotic%20aciduria
correct
Record 56, Abbreviations, English
Record 56, Synonyms, English
Record 56, Textual support, English
Record number: 56, Textual support number: 1 DEF
A rare [autosomal recessive] disorder of pyrimidine metabolism characterized by hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of orotic acid. 1, record 56, English, - orotic%20aciduria
Record 56, French
Record 56, Domaine(s)
- Systèmes endocrinien et métabolique
- Génétique
Record 56, Main entry term, French
- orotacidurie
1, record 56, French, orotacidurie
correct, feminine noun
Record 56, Abbreviations, French
Record 56, Synonyms, French
- oroticurie 1, record 56, French, oroticurie
correct, feminine noun
Record 56, Textual support, French
Record number: 56, Textual support number: 1 DEF
Enzymopathie héréditaire rare, à transmission autosomique récessive, se traduisant cliniquement par une anémie hypochrome mégaloblastique. 1, record 56, French, - orotacidurie
Record 56, Spanish
Record 56, Textual support, Spanish
Record 57 - internal organization data 2002-03-26
Record 57, English
Record 57, Subject field(s)
- Blood
Record 57, Main entry term, English
- May-Hegglin anomaly
1, record 57, English, May%2DHegglin%20anomaly
correct
Record 57, Abbreviations, English
Record 57, Synonyms, English
Record 57, Textual support, English
Record number: 57, Textual support number: 1 CONT
An autosomal dominant disorder associated with the presence of giant platelets, moderate thrombocytopenia and bright blue Döhle-body like inclusions in WBC [white blood cells] that are composed of parallel filaments. 1, record 57, English, - May%2DHegglin%20anomaly
Record 57, Key term(s)
- May-Hegglin’s anomaly
Record 57, French
Record 57, Domaine(s)
- Sang
Record 57, Main entry term, French
- anomalie de May-Hegglin
1, record 57, French, anomalie%20de%20May%2DHegglin
correct, feminine noun
Record 57, Abbreviations, French
Record 57, Synonyms, French
- syndrome de May-Hegglin 2, record 57, French, syndrome%20de%20May%2DHegglin
masculine noun
Record 57, Textual support, French
Record number: 57, Textual support number: 1 CONT
L'anomalie de May-Hegglin est caractérisée par des plaquettes géantes et des anomalies polynucléaires qui présentent des corps de Döhle. 1, record 57, French, - anomalie%20de%20May%2DHegglin
Record 57, Spanish
Record 57, Textual support, Spanish
Record 58 - internal organization data 2002-03-21
Record 58, English
Record 58, Subject field(s)
- Endocrine System and Metabolism
Record 58, Main entry term, English
- phenylketonuria
1, record 58, English, phenylketonuria
correct
Record 58, Abbreviations, English
- PKU 2, record 58, English, PKU
correct
Record 58, Synonyms, English
Record 58, Textual support, English
Record number: 58, Textual support number: 1 CONT
Phenylketonuria was first described as a clinical entity in 1934 by Asjborn Fölling, who surmised that the disorder was autosomal recessive and an inborn error of metabolism.... Phenylketonuria [is] a generic term for severe hyperphenylalaninemia(>1 mM), low phenylalanine tolerance(<500 mg per day), and high risk of mental retardation in the absence of treatment 2, record 58, English, - phenylketonuria
Record 58, French
Record 58, Domaine(s)
- Systèmes endocrinien et métabolique
Record 58, Main entry term, French
- phénylcétonurie
1, record 58, French, ph%C3%A9nylc%C3%A9tonurie
correct, feminine noun
Record 58, Abbreviations, French
- PCU 2, record 58, French, PCU
correct, feminine noun
Record 58, Synonyms, French
Record 58, Textual support, French
Record number: 58, Textual support number: 1 CONT
La phénylcétonurie est une maladie génétique héréditaire transmise par les deux parents (porteurs sains) à leur enfant. Elle provient d'un trouble de la transformation de la phénylalanine en tyrosine. 2, record 58, French, - ph%C3%A9nylc%C3%A9tonurie
Record 58, Spanish
Record 58, Campo(s) temático(s)
- Sistemas endocrino y metabólico
Record 58, Main entry term, Spanish
- fenilcetonuria
1, record 58, Spanish, fenilcetonuria
feminine noun
Record 58, Abbreviations, Spanish
Record 58, Synonyms, Spanish
Record 58, Textual support, Spanish
Record 59 - internal organization data 2002-02-14
Record 59, English
Record 59, Subject field(s)
- Genetics
- Biotechnology
Record 59, Main entry term, English
- amphimutation
1, record 59, English, amphimutation
correct
Record 59, Abbreviations, English
Record 59, Synonyms, English
- double mutation 2, record 59, English, double%20mutation
correct
Record 59, Textual support, English
Record number: 59, Textual support number: 1 CONT
[Hereditary hemochromatosis(HH) ] is an autosomal recessive disease meaning a person has to get a copy of the gene(double mutation) from each parent. At present there are two different gene mutations(C282Y and H63D) that are associated with the disease... Usually the parents are carriers, meaning they do not have the disease. It is estimated that about 1 out of 200 people in the US has a double mutation and that about 3-5 per 1000 people have HH. 2, record 59, English, - amphimutation
Record 59, Key term(s)
- amphi-mutation
Record 59, French
Record 59, Domaine(s)
- Génétique
- Biotechnologie
Record 59, Main entry term, French
- amphimutation
1, record 59, French, amphimutation
correct, feminine noun
Record 59, Abbreviations, French
Record 59, Synonyms, French
- mutation double 2, record 59, French, mutation%20double
feminine noun
Record 59, Textual support, French
Record 59, Key term(s)
- amphi-mutation
Record 59, Spanish
Record 59, Campo(s) temático(s)
- Genética
- Biotecnología
Record 59, Main entry term, Spanish
- mutación doble
1, record 59, Spanish, mutaci%C3%B3n%20doble
correct, feminine noun
Record 59, Abbreviations, Spanish
Record 59, Synonyms, Spanish
- anfimutación 2, record 59, Spanish, anfimutaci%C3%B3n
feminine noun
Record 59, Textual support, Spanish
Record number: 59, Textual support number: 1 CONT
No se ha encontrado mutación doble, es decir la C282Y y la H63D, en el mismo cromosoma. Hay formas de hemocromatosis no dependientes de las mutaciones antes señaladas como es el caso de la hemocromatosis juvenil, y la de los africano-americanos. 3, record 59, Spanish, - mutaci%C3%B3n%20doble
Record 59, Key term(s)
- anfi-mutación
Record 60 - internal organization data 2002-01-08
Record 60, English
Record 60, Subject field(s)
- Biochemistry
Record 60, Main entry term, English
- gamma-glutamyl transpeptidase
1, record 60, English, gamma%2Dglutamyl%20transpeptidase
correct
Record 60, Abbreviations, English
Record 60, Synonyms, English
- gamma-glutamyltransferase 1, record 60, English, gamma%2Dglutamyltransferase
correct
- GGT 1, record 60, English, GGT
correct
- GGT 1, record 60, English, GGT
Record 60, Textual support, English
Record number: 60, Textual support number: 1 DEF
An enzyme of the transferase class that catalyzes the transfer of the g-glutamyl group from glutathione to an amino acid to form a glutamyl-amino acid and the dipeptide cysteinyl-glycine. 1, record 60, English, - gamma%2Dglutamyl%20transpeptidase
Record number: 60, Textual support number: 1 OBS
Deficiency of the enzyme, an autosomal recessive trait, results in g-glutamyl transpeptidase deficiency. 1, record 60, English, - gamma%2Dglutamyl%20transpeptidase
Record 60, French
Record 60, Domaine(s)
- Biochimie
Record 60, Main entry term, French
- gammaglutamyl transpeptidase
1, record 60, French, gammaglutamyl%20transpeptidase
correct, feminine noun
Record 60, Abbreviations, French
- GGT 2, record 60, French, GGT
correct, feminine noun
Record 60, Synonyms, French
Record 60, Textual support, French
Record number: 60, Textual support number: 1 CONT
Les phosphatases alcalines (PA) la gammaglutamyl transpeptidase (GGT), la lactase déshydrogénase (LDH), l'aspartate aminotransférase (AST) ainsi que l'échographie sont actuellement les examens les plus facilement réalisables et les moins onéreux pour le diagnostic des métastases hépatiques. 1, record 60, French, - gammaglutamyl%20transpeptidase
Record 60, Spanish
Record 60, Textual support, Spanish
Record 61 - internal organization data 2001-06-04
Record 61, English
Record 61, Subject field(s)
- Symptoms (Medicine)
Record 61, Main entry term, English
- Tangier disease
1, record 61, English, Tangier%20disease
correct, see observation
Record 61, Abbreviations, English
Record 61, Synonyms, English
Record 61, Textual support, English
Record number: 61, Textual support number: 1 DEF
A heritable disorder of lipid metabolism characterized by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray color of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance. 1, record 61, English, - Tangier%20disease
Record number: 61, Textual support number: 1 OBS
Tangier: an island in the Chesapeake Bay [USA]. 1, record 61, English, - Tangier%20disease
Record 61, French
Record 61, Domaine(s)
- Symptômes (Médecine)
Record 61, Main entry term, French
- maladie de Tangier
1, record 61, French, maladie%20de%20Tangier
correct, feminine noun
Record 61, Abbreviations, French
Record 61, Synonyms, French
Record 61, Textual support, French
Record number: 61, Textual support number: 1 CONT
L'hyperalphalipoprotéinémie [...] Dans la maladie de Tangier, autosomique récessive, une affection rare, on assiste à une diminution importante du cholestérol-HDL ainsi que des apoprotéines A-I et A-II. Les esters de cholestérol se déposent dans le système réticuloendothélial, les amygdales, la rate et le foie, accompagné d'un catabolisme accéléré des LDL. Le risque cardiovasculaire de la maladie de Tangier n'est pas évident. 1, record 61, French, - maladie%20de%20Tangier
Record 61, Spanish
Record 61, Textual support, Spanish
Record 62 - internal organization data 2001-06-04
Record 62, English
Record 62, Subject field(s)
- Symptoms (Medicine)
- Nervous System
Record 62, Main entry term, English
- progressive diaphyseal dysplasia
1, record 62, English, progressive%20diaphyseal%20dysplasia
correct
Record 62, Abbreviations, English
Record 62, Synonyms, English
- Camurati-Engelmann disease 1, record 62, English, Camurati%2DEngelmann%20disease
correct
- Engelmann disease 2, record 62, English, Engelmann%20disease
correct
- diaphyseal sclerosis 2, record 62, English, diaphyseal%20sclerosis
Record 62, Textual support, English
Record number: 62, Textual support number: 1 CONT
Progressive diaphyseal dysplasia(Camurati-Engelmann disease). This developmental disorder affects all races and is transmitted as an autosomal dominant trait with variable penetrance. New bone formation gradually involves both the periosteal and endosteal surface of long bone diaphyses. With severe disease, osteosclerosis also affects the axial skeleton. 1, record 62, English, - progressive%20diaphyseal%20dysplasia
Record 62, French
Record 62, Domaine(s)
- Symptômes (Médecine)
- Système nerveux
Record 62, Main entry term, French
- maladie de Camurati-Engelmann
1, record 62, French, maladie%20de%20Camurati%2DEngelmann
correct, feminine noun
Record 62, Abbreviations, French
Record 62, Synonyms, French
Record 62, Textual support, French
Record number: 62, Textual support number: 1 CONT
Maladie osseuses constitutionnelles [transmise selon le mode dominant], cette affection est habituellement découverte au cours de la seconde enfance, mais elle peut parfois l'être beaucoup plus tardivement. Ce sont généralement des douleurs des membres inférieurs qui attirent l'attention, plus rarement des troubles de la marche ou une fatigabilité excessive. Cliniquement, le fait le plus frappant est la disproportion entre le tronc et les membres qui paraissent anormalement longs. [...] L'examen radiologique montre un épaississement en fuseau de la corticale diaphysaire des os longs dont les contours légèrement ondulés. 1, record 62, French, - maladie%20de%20Camurati%2DEngelmann
Record 62, Key term(s)
- syndrome de Camurati-Engelmann
Record 62, Spanish
Record 62, Textual support, Spanish
Record 63 - internal organization data 2000-05-25
Record 63, English
Record 63, Subject field(s)
- Genetics
Record 63, Main entry term, English
- autosomal recessive heredity 1, record 63, English, autosomal%20recessive%20heredity
Record 63, Abbreviations, English
Record 63, Synonyms, English
Record 63, French
Record 63, Domaine(s)
- Génétique
Record 63, Main entry term, French
- hérédité récessive autosomique
1, record 63, French, h%C3%A9r%C3%A9dit%C3%A9%20r%C3%A9cessive%20autosomique
correct, feminine noun
Record 63, Abbreviations, French
Record 63, Synonyms, French
Record 63, Textual support, French
Record 63, Spanish
Record 63, Textual support, Spanish
Record 64 - internal organization data 2000-05-25
Record 64, English
Record 64, Subject field(s)
- Bones and Joints
Record 64, Main entry term, English
- mucopolysaccharidosis IH
1, record 64, English, mucopolysaccharidosis%20IH
correct
Record 64, Abbreviations, English
Record 64, Synonyms, English
- Hurler’s syndrome 1, record 64, English, Hurler%26rsquo%3Bs%20syndrome
correct
- Hurler-Pfaundler syndrome 1, record 64, English, Hurler%2DPfaundler%20syndrome
correct
Record 64, Textual support, English
Record number: 64, Textual support number: 1 DEF
An autosomal recessive inborn a-iduronidase and characterized by progressive mental retardation and physical deterioration, short stature, coarse facies, corneal clouding, dysostosis multiplex, restricted joint mobiligy, and death by the mid-second decade as a result of pulmonary or cardiac complications. 2, record 64, English, - mucopolysaccharidosis%20IH
Record 64, French
Record 64, Domaine(s)
- Os et articulations
Record 64, Main entry term, French
- mucopolysaccharidose de type 1
1, record 64, French, mucopolysaccharidose%20de%20type%201
correct, feminine noun
Record 64, Abbreviations, French
Record 64, Synonyms, French
- mucopolysaccharidose 1 2, record 64, French, mucopolysaccharidose%201
correct, feminine noun
- maladie de Hurler 3, record 64, French, maladie%20de%20Hurler
correct, feminine noun
Record 64, Textual support, French
Record 64, Spanish
Record 64, Textual support, Spanish
Record 65 - internal organization data 2000-05-15
Record 65, English
Record 65, Subject field(s)
- Diagnostic Procedures (Medicine)
Record 65, Main entry term, English
- Bardet-Biedl syndrome
1, record 65, English, Bardet%2DBiedl%20syndrome
correct
Record 65, Abbreviations, English
Record 65, Synonyms, English
- Laurence-Moon-Biedl syndrome 2, record 65, English, Laurence%2DMoon%2DBiedl%20syndrome
- Moon-Bardet-Biedl syndrome 2, record 65, English, Moon%2DBardet%2DBiedl%20syndrome
Record 65, Textual support, English
Record number: 65, Textual support number: 1 DEF
An autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, obesity, polydactyly and hypogonadism. 3, record 65, English, - Bardet%2DBiedl%20syndrome
Record 65, French
Record 65, Domaine(s)
- Méthodes diagnostiques (Médecine)
Record 65, Main entry term, French
- syndrome de Bardet-Biedl
1, record 65, French, syndrome%20de%20Bardet%2DBiedl
correct, masculine noun
Record 65, Abbreviations, French
Record 65, Synonyms, French
- syndrome de Laurence-Moon-Bardet-Biedl 2, record 65, French, syndrome%20de%20Laurence%2DMoon%2DBardet%2DBiedl
masculine noun
- syndrome de Moon-Bardet-Biedl 2, record 65, French, syndrome%20de%20Moon%2DBardet%2DBiedl
masculine noun
Record 65, Textual support, French
Record number: 65, Textual support number: 1 DEF
Affectation autosomale récessive caractérisée par une rétinopathie pigmentaire, une obésité, un hypogonadisme, une polydactylie et un retard mental. 3, record 65, French, - syndrome%20de%20Bardet%2DBiedl
Record number: 65, Textual support number: 1 OBS
Source MVISI-F : Le nouveau dictionnaire de la vision par Michel Millodot, Médiacom Vision Éditeur, 1997. 4, record 65, French, - syndrome%20de%20Bardet%2DBiedl
Record 65, Spanish
Record 65, Textual support, Spanish
Record 66 - internal organization data 2000-03-08
Record 66, English
Record 66, Subject field(s)
- Endocrine System and Metabolism
Record 66, Main entry term, English
- familial hypercholesterolemia
1, record 66, English, familial%20hypercholesterolemia
correct
Record 66, Abbreviations, English
Record 66, Synonyms, English
Record 66, Textual support, English
Record number: 66, Textual support number: 1 DEF
A hereditary disorder of lipid metabolism of autosomal dominant transmittance, characterized by cutaneous and tendon xanthomas, premature arcus corneae, recurrent polyarthritis, accelerated atherosclerosis, and myocardial infarction in the fourth or fifth decade of life. 1, record 66, English, - familial%20hypercholesterolemia
Record 66, French
Record 66, Domaine(s)
- Systèmes endocrinien et métabolique
Record 66, Main entry term, French
- hypercholestérolémie familiale
1, record 66, French, hypercholest%C3%A9rol%C3%A9mie%20familiale
correct, feminine noun
Record 66, Abbreviations, French
Record 66, Synonyms, French
Record 66, Textual support, French
Record number: 66, Textual support number: 1 CONT
L'hypercholestérolémie responsable de dépôts [de cholestérol] peut être génétique par mutation du gène codant pour les récepteurs membranaires des LDL (hypercholestérolémies familiales) ou acquise par excès d'apport ou de synthèse. 1, record 66, French, - hypercholest%C3%A9rol%C3%A9mie%20familiale
Record 66, Spanish
Record 66, Textual support, Spanish
Record 67 - internal organization data 1999-10-05
Record 67, English
Record 67, Subject field(s)
- Genetics
Record 67, Main entry term, English
- sex determining region on Y
1, record 67, English, sex%20determining%20region%20on%20Y
correct
Record 67, Abbreviations, English
- SRY 2, record 67, English, SRY
correct
Record 67, Synonyms, English
- SRY gene 3, record 67, English, SRY%20gene
correct
Record 67, Textual support, English
Record number: 67, Textual support number: 1 CONT
A Novel Mutation in the Sex Determining Region on Y(SRY) Gene as an Etiology of Familial Swyer Syndrome. Swyer Syndrome(SWY) is a failure of testicular differentiation that results in 46, XY sex reversed females. Unlike sporadic SWY, familial cases of SWY appear to be transmitted through 46, XX carrier females and maybe due to X-linked or autosomal genes downstream from SRY in the sexual differentiation cascade. Carriers of a mutation in SRY would be expected to be affected with SWY and be sterile. This report describes two siblings with SWY who have been previously found to have a normal SRY gene with polymerase chain reaction(PCR) 4, record 67, English, - sex%20determining%20region%20on%20Y
Record 67, French
Record 67, Domaine(s)
- Génétique
Record 67, Main entry term, French
- gène SRY
1, record 67, French, g%C3%A8ne%20SRY
correct
Record 67, Abbreviations, French
Record 67, Synonyms, French
- région Y déterminant le sexe 2, record 67, French, r%C3%A9gion%20Y%20d%C3%A9terminant%20le%20sexe
correct
Record 67, Textual support, French
Record number: 67, Textual support number: 1 DEF
Gène du chromosome Y qui joue un rôle important dans la détermination du sexe. 4, record 67, French, - g%C3%A8ne%20SRY
Record 67, Spanish
Record 67, Textual support, Spanish
Record 68 - internal organization data 1999-09-17
Record 68, English
Record 68, Subject field(s)
- Genetics
- Viral Diseases
Record 68, Main entry term, English
- autosomal dominant inheritance
1, record 68, English, autosomal%20dominant%20inheritance
correct
Record 68, Abbreviations, English
Record 68, Synonyms, English
Record 68, Textual support, English
Record number: 68, Textual support number: 1 DEF
Transmission of a single-gene trait that is encoded on an autosome (a chromosome other than a sex chromosome) and is expressed in a dominant fashion in heterozygotes, that is, the trait is expressed if only one copy of the allele responsible is present. 1, record 68, English, - autosomal%20dominant%20inheritance
Record 68, French
Record 68, Domaine(s)
- Génétique
- Maladies virales
Record 68, Main entry term, French
- transmission autosomique dominante
1, record 68, French, transmission%20autosomique%20dominante
correct, feminine noun
Record 68, Abbreviations, French
Record 68, Synonyms, French
Record 68, Textual support, French
Record number: 68, Textual support number: 1 DEF
Passage des caractéristiques génétiques d'un individu à un autre par un gène qui n'est pas lié au sexe et qui peut s'exprimer alors qu'il est présent sur un seul chromosome. 2, record 68, French, - transmission%20autosomique%20dominante
Record 68, Spanish
Record 68, Textual support, Spanish
Record 69 - internal organization data 1998-09-29
Record 69, English
Record 69, Subject field(s)
- Blood
Record 69, Main entry term, English
- acatalasemia
1, record 69, English, acatalasemia
correct
Record 69, Abbreviations, English
Record 69, Synonyms, English
- acatalasemia 1, record 69, English, acatalasemia
correct
- Takahara’s disease 1, record 69, English, Takahara%26rsquo%3Bs%20disease
correct
Record 69, Textual support, English
Record number: 69, Textual support number: 1 DEF
A rare autosomal recessive disorder due to virtual absence of catalase activity, observed mainly in Japan and Switzerland. It is usually asymptomatic, but in approximately 50 per cent of the Japanese cases it is characterized by a syndrome of oral ulcerations and gangrene. 1, record 69, English, - acatalasemia
Record 69, Key term(s)
- anenzymia catalasia
Record 69, French
Record 69, Domaine(s)
- Sang
Record 69, Main entry term, French
- acatalasémie
1, record 69, French, acatalas%C3%A9mie
correct, feminine noun
Record 69, Abbreviations, French
Record 69, Synonyms, French
Record 69, Textual support, French
Record number: 69, Textual support number: 1 DEF
Maladie rare autosomique récessive, surtout observée en Extrême-Orient, caractérisée par l'absence de catalase dans les tissus. Elle peut être asymptomatique ou se manifester par une stomatite volontiers nécrosante. 1, record 69, French, - acatalas%C3%A9mie
Record 69, Spanish
Record 69, Textual support, Spanish
Record 70 - internal organization data 1998-09-22
Record 70, English
Record 70, Subject field(s)
- Dentistry
Record 70, Main entry term, English
- dentinogenesis imperfecta
1, record 70, English, dentinogenesis%20imperfecta
correct
Record 70, Abbreviations, English
Record 70, Synonyms, English
- heriditary opalescent dentin 2, record 70, English, heriditary%20opalescent%20dentin
correct
Record 70, Textual support, English
Record number: 70, Textual support number: 1 DEF
An autosomal dominant disturbance of high penetrance and occurs with equal frequency in both sexes.... The enamel is not of normal thickness, nor has it been clearly established that the ease with which the enamel fractures away from the dentin. 3, record 70, English, - dentinogenesis%20imperfecta
Record 70, French
Record 70, Domaine(s)
- Dentisterie
Record 70, Main entry term, French
- dentinogenèse imparfaite
1, record 70, French, dentinogen%C3%A8se%20imparfaite
correct, feminine noun
Record 70, Abbreviations, French
Record 70, Synonyms, French
- dentine opalescente héréditaire 2, record 70, French, dentine%20opalescente%20h%C3%A9r%C3%A9ditaire
correct, feminine noun
- dysplasie de Capdepont 3, record 70, French, dysplasie%20de%20Capdepont
correct, feminine noun
Record 70, Textual support, French
Record number: 70, Textual support number: 1 DEF
Maladie familiale qui rend les couronnes des dents globuleuses et les racines courtes. L'émail, pourtant normal, adhère mal à la dentine anormale sous-jacente et s'effrite et se détache. 2, record 70, French, - dentinogen%C3%A8se%20imparfaite
Record 70, Spanish
Record 70, Textual support, Spanish
Record 71 - internal organization data 1998-08-19
Record 71, English
Record 71, Subject field(s)
- Genetics
Record 71, Main entry term, English
- autosomal recessive trait
1, record 71, English, autosomal%20recessive%20trait
correct
Record 71, Abbreviations, English
Record 71, Synonyms, English
- autosomal-recessive trait 2, record 71, English, autosomal%2Drecessive%20trait
correct
Record 71, Textual support, English
Record number: 71, Textual support number: 1 CONT
Autosomal recessive inheritance is recognized by the following criteria : usually only siblings are affected, not their parents or offspring. The recurrence risk(of the defect occurring in a sibling of an affected child of unaffected parents) is 25 percent, with males and females equally likely to have and to transmit the trait. Parental consanguinity increases the likelihood of the appearance of an autosomal recessive trait. 1, record 71, English, - autosomal%20recessive%20trait
Record 71, French
Record 71, Domaine(s)
- Génétique
Record 71, Main entry term, French
- caractère récessif autosomique
1, record 71, French, caract%C3%A8re%20r%C3%A9cessif%20autosomique
correct, masculine noun
Record 71, Abbreviations, French
Record 71, Synonyms, French
Record 71, Textual support, French
Record number: 71, Textual support number: 1 CONT
Les syndromes d'instabilité (ou de cassures chromosomiques) sont définis par l'existence de cassures chromosomiques non systématisées dans les mitoses des sujets qui en sont atteints. Ces syndromes sont en général transmis héréditairement et sont associés à une augmentation de fréquence des affections malignes dans l'évolution. Parmi ces syndromes, les plus fréquents qui intéressent l'hématologiste sont l'anémie de Fanconi, le syndrome de Bloom et l'ataxie-télangiectasie, tous trois transmis selon le mode récessif autosomique. On leur rattache d'autres maladies ou syndromes comme l'agranulocytose de Kostmann et l'anémie par déficit en glutathion-réductase. 1, record 71, French, - caract%C3%A8re%20r%C3%A9cessif%20autosomique
Record number: 71, Textual support number: 1 OBS
Le terme et le contexte proviennent de l'un des volumes de l'Encyclopédie médico-chirurgicale. 2, record 71, French, - caract%C3%A8re%20r%C3%A9cessif%20autosomique
Record 71, Spanish
Record 71, Textual support, Spanish
Record 72 - internal organization data 1998-06-10
Record 72, English
Record 72, Subject field(s)
- Epidermis and Dermis
Record 72, Main entry term, English
- steatocystoma multiplex
1, record 72, English, steatocystoma%20multiplex
correct
Record 72, Abbreviations, English
Record 72, Synonyms, English
- steatomatosis 2, record 72, English, steatomatosis
correct
- sebocystomatosis 3, record 72, English, sebocystomatosis
correct
Record 72, Textual support, English
Record number: 72, Textual support number: 1 DEF
An autosomal dominant disorder chiefly affecting males at birth or presenting about the time of puberty, characterized by the development of numerous flesh-colored to yellow epidermal cysts, especially involving the skin of the sternum, the proximal extremities, and the scrotum in males. The cysts typically have an intricately infolded thin epidermal lining, without a granular layer, incorporating abortive hair follicles and at times sebaceous, eccrine, or apocrine structures, and contain lanugo hair and an oily material. 4, record 72, English, - steatocystoma%20multiplex
Record 72, French
Record 72, Domaine(s)
- Épiderme et derme
Record 72, Main entry term, French
- stéatocystomes multiples
1, record 72, French, st%C3%A9atocystomes%20multiples
correct, masculine noun, plural
Record 72, Abbreviations, French
Record 72, Synonyms, French
- sébocystomatose 1, record 72, French, s%C3%A9bocystomatose
correct, feminine noun
Record 72, Textual support, French
Record number: 72, Textual support number: 1 DEF
Affection familiale de type naevique, constituée de très nombreux kystes de taille variée, disséminés sur tout le tégument et dont l'abcédation successive entraîne un état de suppuration chronique. 1, record 72, French, - st%C3%A9atocystomes%20multiples
Record 72, Spanish
Record 72, Textual support, Spanish
Record 73 - internal organization data 1998-04-28
Record 73, English
Record 73, Subject field(s)
- Bones and Joints
Record 73, Main entry term, English
- osteogenesis imperfecta
1, record 73, English, osteogenesis%20imperfecta
correct
Record 73, Abbreviations, English
- OI 2, record 73, English, OI
correct
Record 73, Synonyms, English
- brittle bones 1, record 73, English, brittle%20bones
correct
- fragilitas ossium 1, record 73, English, fragilitas%20ossium
correct
Record 73, Textual support, English
Record number: 73, Textual support number: 1 DEF
A condition of abnormal fragility and plasticity of bone, with recurring fractures on minimal trauma, deformity of long bones, usually bluish color of sclerae, and in many cases, the development of otosclerosis; there is extreme variation in severity and clinical findings; inheritance is autosomal dominant in most families, but a rare autosomal recessive type also exists. 3, record 73, English, - osteogenesis%20imperfecta
Record 73, French
Record 73, Domaine(s)
- Os et articulations
Record 73, Main entry term, French
- ostéogénèse imparfaite
1, record 73, French, ost%C3%A9og%C3%A9n%C3%A8se%20imparfaite
correct, feminine noun
Record 73, Abbreviations, French
Record 73, Synonyms, French
- fragilité osseuse constitutionnelle 2, record 73, French, fragilit%C3%A9%20osseuse%20constitutionnelle
correct, feminine noun
- fragilité osseuse héréditaire 3, record 73, French, fragilit%C3%A9%20osseuse%20h%C3%A9r%C3%A9ditaire
correct, feminine noun
Record 73, Textual support, French
Record number: 73, Textual support number: 1 DEF
Variété d'ostéodysplasie structurale héréditaire entraînant une ostéoporose généralisée sévère, se traduisant par de multiples fractures spontanées et des déformations osseuses. Il s'y associe presque toujours une coloration bleue des sclérotiques et parfois une surdité (syndrome ou triade de Van der Hoeve). L'affection comporte des degrés de gravité variables qui ont fait artificiellement distinguer deux formes : l'ostéogénèse imparfaite congénitale et l'ostéogénèse imparfaite tardive. [D'après MEDEC, 1989, p. 601.] 4, record 73, French, - ost%C3%A9og%C3%A9n%C3%A8se%20imparfaite
Record 73, Spanish
Record 73, Textual support, Spanish
Record 74 - internal organization data 1998-03-03
Record 74, English
Record 74, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 74, Main entry term, English
- cleidocranial dysostosis
1, record 74, English, cleidocranial%20dysostosis
correct
Record 74, Abbreviations, English
Record 74, Synonyms, English
- cleidocranial dysplasia 2, record 74, English, cleidocranial%20dysplasia
correct
Record 74, Textual support, English
Record number: 74, Textual support number: 1 DEF
A rare hereditary condition in which there is defective ossification of the cranial bones, with large fontanels and delayed closing of the sutures; complete or partial absence of the clavicles, so that the shoulders may be brought together, or nearly together, in front; and dental and vertebral anomalies. It is transmitted as an autosomal dominant trait. 1, record 74, English, - cleidocranial%20dysostosis
Record 74, French
Record 74, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 74, Main entry term, French
- dysostose cléïdo-crânienne
1, record 74, French, dysostose%20cl%C3%A9%C3%AFdo%2Dcr%C3%A2nienne
correct, see observation, feminine noun
Record 74, Abbreviations, French
Record 74, Synonyms, French
- dysplasie cléïdo-crânienne 2, record 74, French, dysplasie%20cl%C3%A9%C3%AFdo%2Dcr%C3%A2nienne
correct, feminine noun
- dysostose cléïdo-crânienne héréditaire 3, record 74, French, dysostose%20cl%C3%A9%C3%AFdo%2Dcr%C3%A2nienne%20h%C3%A9r%C3%A9ditaire
correct, feminine noun
- syndrome de Pierre-Marie, Foy et Sainton 3, record 74, French, syndrome%20de%20Pierre%2DMarie%2C%20Foy%20et%20Sainton
correct, masculine noun
Record 74, Textual support, French
Record number: 74, Textual support number: 1 DEF
Affection osseuse héréditaire transmise selon le mode dominant autosomique, caractérisée par l'aplasie ou l'hypoplasie des clavicules (les épaules peuvent se toucher, en avant habituellement), par le retard de soudure des os du crâne et des malformations dentaires. À cette triade s'associent fréquemment des hypoplasies du rachis, du bassin ou des phalanges. 3, record 74, French, - dysostose%20cl%C3%A9%C3%AFdo%2Dcr%C3%A2nienne
Record number: 74, Textual support number: 1 OBS
Dysostose cléïdo-crânienne : ancienne dénomination. 2, record 74, French, - dysostose%20cl%C3%A9%C3%AFdo%2Dcr%C3%A2nienne
Record 74, Spanish
Record 74, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 74, Main entry term, Spanish
- displasia cleidocraneal
1, record 74, Spanish, displasia%20cleidocraneal
correct, feminine noun
Record 74, Abbreviations, Spanish
Record 74, Synonyms, Spanish
- disostosis cleidocraneal 1, record 74, Spanish, disostosis%20cleidocraneal
correct, feminine noun
Record 74, Textual support, Spanish
Record 75 - internal organization data 1998-03-03
Record 75, English
Record 75, Subject field(s)
- Nervous System
Record 75, Main entry term, English
- metachromatic leukodystrophy
1, record 75, English, metachromatic%20leukodystrophy
correct
Record 75, Abbreviations, English
- MLD 2, record 75, English, MLD
correct
Record 75, Synonyms, English
- sulfatide lipidosis 1, record 75, English, sulfatide%20lipidosis
correct
Record 75, Textual support, English
Record number: 75, Textual support number: 1 DEF
An autosomal recessive disorder, due to deficiency of cerebroside sulfatase or sphingolipid activator protein-1, characterized by sulfatide in neural and nonneural tissue, with a diffuse loss of myelin in the central nervous system. 2, record 75, English, - metachromatic%20leukodystrophy
Record 75, French
Record 75, Domaine(s)
- Système nerveux
Record 75, Main entry term, French
- leucodystrophie métachromatique
1, record 75, French, leucodystrophie%20m%C3%A9tachromatique
correct, feminine noun
Record 75, Abbreviations, French
Record 75, Synonyms, French
- spihingolipidose à sulfatide 1, record 75, French, spihingolipidose%20%C3%A0%20sulfatide
correct, feminine noun
- maladie de Scholz 1, record 75, French, maladie%20de%20Scholz
correct, feminine noun
Record 75, Textual support, French
Record number: 75, Textual support number: 1 DEF
Affection héréditaire à transmission autosomique récessive, qui s'apparente à la fois aux sphingolipidoses (puisqu'elle comporte une accumulation anormale de composés lipidiques liée à un déficit en aryl-sulfatase) et aux leucodystrophies (puisque à l'examen anatomopathologique, il existe avant tout un trouble de la myélinisation). 1, record 75, French, - leucodystrophie%20m%C3%A9tachromatique
Record 75, Spanish
Record 75, Textual support, Spanish
Record 76 - internal organization data 1997-03-20
Record 76, English
Record 76, Subject field(s)
- Genetics
Record 76, Main entry term, English
- cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopahty
1, record 76, English, cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopahty
correct
Record 76, Abbreviations, English
- CADASIL 2, record 76, English, CADASIL
correct
Record 76, Synonyms, English
Record 76, Textual support, English
Record 76, French
Record 76, Domaine(s)
- Génétique
Record 76, Main entry term, French
- CADASIL
1, record 76, French, CADASIL
correct, masculine noun
Record 76, Abbreviations, French
Record 76, Synonyms, French
Record 76, Textual support, French
Record number: 76, Textual support number: 1 CONT
Décrit pour la première fois en 1991, le CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) est une maladie neurologique héréditaire provoquant des infarctus cérébraux à répétition [...] Après avoir localisé le gène responsable du CADASIL sur le chromosome 19, l'équipe d'Élizabeth Tournier-Lasserve montre maintenant qu'il correspond en fait au gène Notch3. 1, record 76, French, - CADASIL
Record number: 76, Textual support number: 1 OBS
Génétique moléculaire. 2, record 76, French, - CADASIL
Record 76, Spanish
Record 76, Textual support, Spanish
Record 77 - internal organization data 1994-05-12
Record 77, English
Record 77, Subject field(s)
- Muscles and Tendons
Record 77, Main entry term, English
- Landouzy-Dejerine dystrophy
1, record 77, English, Landouzy%2DDejerine%20dystrophy
correct
Record 77, Abbreviations, English
Record 77, Synonyms, English
- facioscapulohumeral muscular dystrophy 2, record 77, English, facioscapulohumeral%20muscular%20dystrophy
correct
- facioscapulohumeral muscular atrophy 1, record 77, English, facioscapulohumeral%20muscular%20atrophy
Record 77, Textual support, English
Record number: 77, Textual support number: 1 DEF
a relatively benign autosomal dominant form of muscular dystrophy in which there is marked atrophy of the muscles of the face, shoulder girdle, and arm, producing a facial expression called myopathic face. 1, record 77, English, - Landouzy%2DDejerine%20dystrophy
Record 77, French
Record 77, Domaine(s)
- Muscles et tendons
Record 77, Main entry term, French
- myopathie facio-scapulo-humérale de Landouzy Déjerine
1, record 77, French, myopathie%20facio%2Dscapulo%2Dhum%C3%A9rale%20de%20Landouzy%20D%C3%A9jerine
correct, feminine noun
Record 77, Abbreviations, French
Record 77, Synonyms, French
- myopathie facio-scapulo-humérale 2, record 77, French, myopathie%20facio%2Dscapulo%2Dhum%C3%A9rale
correct, feminine noun
- FSH 3, record 77, French, FSH
feminine noun
- FSH 3, record 77, French, FSH
- myopathie de Landouzy-Déjerine 4, record 77, French, myopathie%20de%20Landouzy%2DD%C3%A9jerine
correct, feminine noun
Record 77, Textual support, French
Record number: 77, Textual support number: 1 CONT
Deux entités également toutes deux fréquentes sont à envisager : myopathie facio-scapulo-humérale (FSH) et dystrophie myotonique de Steinert. La FSH, encore appelée myopathie de Landouzy-Déjerine, débute habituellement dans la deuxième décennie et se manifeste par une atteinte musculaire asymétrique et sélective affectant la face (orbiculaires, muscles des joues et des lèvres), la ceinture scapulaire (fixateurs de l'omoplate avec respect relatif des deltoïdes). 4, record 77, French, - myopathie%20facio%2Dscapulo%2Dhum%C3%A9rale%20de%20Landouzy%20D%C3%A9jerine
Record 77, Spanish
Record 77, Textual support, Spanish
Record 78 - internal organization data 1993-03-25
Record 78, English
Record 78, Subject field(s)
- Epidermis and Dermis
- Immunology
Record 78, Main entry term, English
- cold urticaria 1, record 78, English, cold%20urticaria
Record 78, Abbreviations, English
Record 78, Synonyms, English
Record 78, Textual support, English
Record number: 78, Textual support number: 1 DEF
Urticaria precipitated by cold air, water, or objects, occurring in two forms : In the autosomal dominant form, which is associated with fever, arthralgias and leukocytosis, the lesions present as erythematous, burning papules and macules. The more common acquired form is usually idiopathic and self-limited. 1, record 78, English, - cold%20urticaria
Record number: 78, Textual support number: 1 CONT
Cold urticaria... is usually acquired but may rarely be familial, inherited as an autosomal dominant trait. In the familial type, attacks are precipitated by cold and accompanied by fever, malaise and arthralgia. 2, record 78, English, - cold%20urticaria
Record 78, French
Record 78, Domaine(s)
- Épiderme et derme
- Immunologie
Record 78, Main entry term, French
- urticaire au froid
1, record 78, French, urticaire%20au%20froid
feminine noun
Record 78, Abbreviations, French
Record 78, Synonyms, French
Record 78, Textual support, French
Record number: 78, Textual support number: 1 CONT
Le problème des urticaires «physiques» [...] relève aussi de ce chapitre car les IgE semblent souvent intervenir. On distingue sous ce terme le dermographisme qui entraîne une réaction érythémateuse et prurigineuse éphémère sur le parcours d'un microtraumatisme induit par un objet solide, l'urticaire au froid, parfois associée à un angioedème et plus rarement à des manifestations respiratoires ou à une syncope [...], l'urticaire cholinergique [...], l'urticaire à la lumière, qui survient après exposition au soleil, et l'urticaire à la pression. 1, record 78, French, - urticaire%20au%20froid
Record 78, Spanish
Record 78, Textual support, Spanish
Record 79 - internal organization data 1993-02-11
Record 79, English
Record 79, Subject field(s)
- Immunology
Record 79, Main entry term, English
- combined immunodeficiency secondary to enzyme deficiency 1, record 79, English, combined%20immunodeficiency%20secondary%20to%20enzyme%20deficiency
Record 79, Abbreviations, English
Record 79, Synonyms, English
Record 79, Textual support, English
Record number: 79, Textual support number: 1 CONT
Combined immunodeficiency secondary to enzyme deficiency. Two enzyme deficiency disorders have been found to cause severe combined immunodeficiency. These enzymes are necessary for the metabolism of purines : adenosine deaminase(ADA) and purine nucleoside phosphorylase(PNP). The enzyme deficiency is inherited as an autosomal recessive disorder. Deficiency of ADA or PNP leads to intracellular accumulation of deoxy-adenosine or deoxyguanine, respectively, resulting in inhibition of lymphocyte function. 1, record 79, English, - combined%20immunodeficiency%20secondary%20to%20enzyme%20deficiency
Record 79, French
Record 79, Domaine(s)
- Immunologie
Record 79, Main entry term, French
- déficit en purine nucléoside phosphorylase
1, record 79, French, d%C3%A9ficit%20en%20purine%20nucl%C3%A9oside%20phosphorylase
masculine noun
Record 79, Abbreviations, French
Record 79, Synonyms, French
Record 79, Textual support, French
Record number: 79, Textual support number: 1 DEF
Déficit enzymatique qui touche (...) le métabolisme des purines (et qui) est responsable d'un défaut prédominant de l'immunité cellulaire. Les premiers signes infectieux apparaissent tardivement après l'âge d'un an. 1, record 79, French, - d%C3%A9ficit%20en%20purine%20nucl%C3%A9oside%20phosphorylase
Record 79, Spanish
Record 79, Textual support, Spanish
Record 80 - internal organization data 1993-02-11
Record 80, English
Record 80, Subject field(s)
- Immunology
Record 80, Main entry term, English
- Swiss-type agammaglobulinemia 1, record 80, English, Swiss%2Dtype%20agammaglobulinemia
Record 80, Abbreviations, English
Record 80, Synonyms, English
Record 80, Textual support, English
Record number: 80, Textual support number: 1 CONT
Severe combined immunodeficiency.... Swiss-type agammaglobulinemia... In another form B cells are present at normal levels but antibody response is absent owing to lack of T cells; and the pattern of inheritance may be either autosomal recessive or X-linked. 1, record 80, English, - Swiss%2Dtype%20agammaglobulinemia
Record 80, French
Record 80, Domaine(s)
- Immunologie
Record 80, Main entry term, French
- déficit sélectif en précurseurs lymphoïdes T
1, record 80, French, d%C3%A9ficit%20s%C3%A9lectif%20en%20pr%C3%A9curseurs%20lympho%C3%AFdes%20T
masculine noun
Record 80, Abbreviations, French
Record 80, Synonyms, French
Record 80, Textual support, French
Record number: 80, Textual support number: 1 CONT
(On distingue deux types de) déficit immunitaire combiné sévère avec déficit complet en cellules T et présence de cellules B (reconnaissables par leurs marqueurs mais ne produisant pas d'Ig): 1. le déficit sélectif en précurseurs lymphoïdes T, affection génétique de transmission autosomique récessive ou liée au sexe avec absence totale de lymphocytes T et agammaglobulinémie malgré la présence d'un nombre élevé de cellules B; 2. le déficit primitif de l'épithélium thymique (avec en particulier déficit de la sécrétion des hormones thymiques). 1, record 80, French, - d%C3%A9ficit%20s%C3%A9lectif%20en%20pr%C3%A9curseurs%20lympho%C3%AFdes%20T
Record 80, Spanish
Record 80, Textual support, Spanish
Record 81 - internal organization data 1993-02-11
Record 81, English
Record 81, Subject field(s)
- Immunology
Record 81, Main entry term, English
- combined immunodeficiency secondary to ADA enzyme deficiency 1, record 81, English, combined%20immunodeficiency%20secondary%20to%20ADA%20enzyme%20deficiency
Record 81, Abbreviations, English
Record 81, Synonyms, English
Record 81, Textual support, English
Record number: 81, Textual support number: 1 CONT
Combined immunodeficiency secondary to enzyme deficiency. Two enzyme deficiency disorders have been found to cause severe combined immunodeficiency. These enzymes are necessary for the metabolism of purines : adenosine deaminase(ADA) and purine nucleoside phosphorylase(PNP). The enzyme deficiency is inherited as an autosomal recessive disorder. Deficiency of ADA or PNP leads to intracellular accumulation of deoxy-adenosine or deoxyguanine, respectively, resulting in inhibition of lymphocyte function. 1, record 81, English, - combined%20immunodeficiency%20secondary%20to%20ADA%20enzyme%20deficiency
Record 81, French
Record 81, Domaine(s)
- Immunologie
Record 81, Main entry term, French
- déficit immunitaire combiné sévère associé à un déficit en adénosine désaminase
1, record 81, French, d%C3%A9ficit%20immunitaire%20combin%C3%A9%20s%C3%A9v%C3%A8re%20associ%C3%A9%20%C3%A0%20un%20d%C3%A9ficit%20en%20ad%C3%A9nosine%20d%C3%A9saminase
masculine noun
Record 81, Abbreviations, French
Record 81, Synonyms, French
Record 81, Textual support, French
Record number: 81, Textual support number: 1 CONT
(...) le déficit immunitaire combiné sévère associé à un déficit en adénosine désaminase (ADA). L'affection est transmise de façon autosomique récessive (le gène de l'ADA est situé sur le chromosome 20). Elle est souvent associée à certaines anomalies du squelette. 1, record 81, French, - d%C3%A9ficit%20immunitaire%20combin%C3%A9%20s%C3%A9v%C3%A8re%20associ%C3%A9%20%C3%A0%20un%20d%C3%A9ficit%20en%20ad%C3%A9nosine%20d%C3%A9saminase
Record 81, Spanish
Record 81, Textual support, Spanish
Record 82 - internal organization data 1991-04-29
Record 82, English
Record 82, Subject field(s)
- Genetics
Record 82, Main entry term, English
- germ line mosaicism 1, record 82, English, germ%20line%20mosaicism
Record 82, Abbreviations, English
Record 82, Synonyms, English
Record 82, Textual support, English
Record number: 82, Textual support number: 1 CONT
The absence of the disorder in the parents of three affected siblings can be explained by autosomal inheritants, autosomal dominant inheritance of germ line mosaicism. 1, record 82, English, - germ%20line%20mosaicism
Record 82, French
Record 82, Domaine(s)
- Génétique
Record 82, Main entry term, French
- mosaïcisme transmis par lignée germinale
1, record 82, French, mosa%C3%AFcisme%20transmis%20par%20lign%C3%A9e%20germinale
proposal, masculine noun
Record 82, Abbreviations, French
Record 82, Synonyms, French
Record 82, Textual support, French
Record 82, Spanish
Record 82, Textual support, Spanish
Record 83 - internal organization data 1990-06-21
Record 83, English
Record 83, Subject field(s)
- Symptoms (Medicine)
- Musculoskeletal System
Record 83, Main entry term, English
- diastrophic dwarfism
1, record 83, English, diastrophic%20dwarfism
correct
Record 83, Abbreviations, English
Record 83, Synonyms, English
- diatrophic dwarfism 2, record 83, English, diatrophic%20dwarfism
correct
Record 83, Textual support, English
Record number: 83, Textual support number: 1 DEF
A form of osteochondrodysplasia characterized by extremely short stature, abnormal spinal curvature, clubfoot, micromelia, hand deformities, multiple joint contractures or subluxations, deformed ears, and cleft palate; probably inherited as an autosomal recessive trait. 1, record 83, English, - diastrophic%20dwarfism
Record 83, French
Record 83, Domaine(s)
- Symptômes (Médecine)
- Appareil locomoteur (Médecine)
Record 83, Main entry term, French
- nanisme diastrophique
1, record 83, French, nanisme%20diastrophique
correct, masculine noun
Record 83, Abbreviations, French
Record 83, Synonyms, French
Record 83, Textual support, French
Record number: 83, Textual support number: 1 DEF
Variété d'ostéochondrodysplasie [...] à transmission autosomique récessive réalisant un nanisme micromélique sévère, associé à des pieds bots, à une cypho-scoliose, parfois à une division palatine et à des kystes des pavillons auriculaires. Les épiphyses sont irrégulières, provoquant des subluxations et des raideurs articulaires [...] 1, record 83, French, - nanisme%20diastrophique
Record 83, Spanish
Record 83, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema musculoesquelético (Medicina)
Record 83, Main entry term, Spanish
- enanismo diastrófico
1, record 83, Spanish, enanismo%20diastr%C3%B3fico
correct, masculine noun
Record 83, Abbreviations, Spanish
Record 83, Synonyms, Spanish
Record 83, Textual support, Spanish
Record 84 - internal organization data 1988-09-13
Record 84, English
Record 84, Subject field(s)
- Bones and Joints
Record 84, Main entry term, English
- Maroteaux-Lamy syndrome
1, record 84, English, Maroteaux%2DLamy%20syndrome
correct
Record 84, Abbreviations, English
Record 84, Synonyms, English
- mucopolysaccharidosis VI 1, record 84, English, mucopolysaccharidosis%20VI
correct
Record 84, Textual support, English
Record number: 84, Textual support number: 1 DEF
a form of mucopolysaccharidosis transmitted as an autosomal recessive trait, closely resembling Hurler's syndrome, except that the facial deformity is less marked, stiffness of the joints is minimal, and the intellect is not impaired. 1, record 84, English, - Maroteaux%2DLamy%20syndrome
Record 84, French
Record 84, Domaine(s)
- Os et articulations
Record 84, Main entry term, French
- syndrome de Maroteaux-Lamy
1, record 84, French, syndrome%20de%20Maroteaux%2DLamy
correct, masculine noun
Record 84, Abbreviations, French
Record 84, Synonyms, French
- mucopolysaccharidose VI 1, record 84, French, mucopolysaccharidose%20VI
correct, masculine noun
Record 84, Textual support, French
Record number: 84, Textual support number: 1 DEF
Trouble du métabolisme des mucopolysaccharides. 2, record 84, French, - syndrome%20de%20Maroteaux%2DLamy
Record 84, Spanish
Record 84, Textual support, Spanish
Record 85 - internal organization data 1988-04-07
Record 85, English
Record 85, Subject field(s)
- Genetics
Record 85, Main entry term, English
- autosomal dominant condition
1, record 85, English, autosomal%20dominant%20condition
correct
Record 85, Abbreviations, English
Record 85, Synonyms, English
- autosomal dominant disease 2, record 85, English, autosomal%20dominant%20disease
Record 85, Textual support, English
Record number: 85, Textual support number: 1 CONT
Dowling-Degos disease(reticulate pigmented anomaly of the flexures) is an autosomal dominant condition... : A family is described in which eleven members were affected by the Dowling-Degos disease, which appeared to be transmitted as an autosomal dominant.(Source : British Journal of Dermatology, 1983, vol. 108, p. 473). 1, record 85, English, - autosomal%20dominant%20condition
Record 85, French
Record 85, Domaine(s)
- Génétique
Record 85, Main entry term, French
- affection autosomique dominante
1, record 85, French, affection%20autosomique%20dominante
correct, feminine noun
Record 85, Abbreviations, French
Record 85, Synonyms, French
Record 85, Textual support, French
Record number: 85, Textual support number: 1 CONT
Cancer de la thyroïde à stroma amyloïde, syndrome de Sipple, mégacôlon congénital avec hyperplasie des plexus: Une seule et même affection autosomique dominante à pénétrance complète. (Source: Journal de génétique humaine, 1980, vol. 28, no. 5, p. 169). 1, record 85, French, - affection%20autosomique%20dominante
Record 85, Spanish
Record 85, Textual support, Spanish
Record 86 - internal organization data 1986-08-13
Record 86, English
Record 86, Subject field(s)
- Genetics
Record 86, Main entry term, English
- terminal deletion
1, record 86, English, terminal%20deletion
correct
Record 86, Abbreviations, English
Record 86, Synonyms, English
Record 86, Textual support, English
Record number: 86, Textual support number: 1 DEF
A deletion resulting in the formation of an acentric and a centric fragment of chromosome. 1, record 86, English, - terminal%20deletion
Record number: 86, 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. 1, record 86, English, - terminal%20deletion
Record 86, French
Record 86, Domaine(s)
- Génétique
Record 86, Main entry term, French
- délétion terminale
1, record 86, French, d%C3%A9l%C3%A9tion%20terminale
correct, feminine noun
Record 86, Abbreviations, French
Record 86, Synonyms, French
Record 86, Textual support, French
Record number: 86, Textual support number: 1 DEF
Délétion aboutissant à la formation d'un fragment acentrique et d'un fragment centrique de chromosome. 1, record 86, French, - d%C3%A9l%C3%A9tion%20terminale
Record number: 86, Textual support number: 1 CONT
(Modifications intra-chromosomiques). Il arrive qu'après une cassure, un fragment de chromosome soit éliminé, il en résulte un raccourcissement d'un bras chromosomique. Cette délétion peut être terminale ou intercalaire. 1, record 86, French, - d%C3%A9l%C3%A9tion%20terminale
Record 86, Spanish
Record 86, Textual support, Spanish
Record 87 - internal organization data 1985-11-01
Record 87, English
Record 87, Subject field(s)
- Genetics
Record 87, Main entry term, English
- chromatin-positive
1, record 87, English, chromatin%2Dpositive
correct, adjective
Record 87, Abbreviations, English
Record 87, Synonyms, English
Record 87, Textual support, English
Record number: 87, Textual support number: 1 DEF
Having sex chromatin(Barr body in the nuclei of autosomal cells; a characteristic of the normal female.(DORL) 1, record 87, English, - chromatin%2Dpositive
Record number: 87, Textual support number: 1 CONT
(Chromosome mutation) Evidence is available from colour vision studies that either maternal or paternal X chromosome can be lost in chromatin-negative Turner’s syndrome and that maternal nondisjunction can account for chromatin-positive Klinefelter’s syndrome (GENCYT p. 211) 1, record 87, English, - chromatin%2Dpositive
Record 87, French
Record 87, Domaine(s)
- Génétique
Record 87, Main entry term, French
- chromatine positive
1, record 87, French, chromatine%20positive
correct, adjective
Record 87, Abbreviations, French
Record 87, Synonyms, French
Record 87, Textual support, French
Record number: 87, Textual support number: 1 DEF
Qui possède de la chromatine sexuelle (corpuscule de Barr) dans les noyaux des cellules autosomiques; caractéristique des femmes normales. 1, record 87, French, - chromatine%20positive
Record number: 87, Textual support number: 1 CONT
(Dysgénésies testiculaires) L'autre concerne 4 frères, un trisomique 21, 2 jumeaux de sexe masculin, dont un mort-né, un garçon avec syndrome de Klinefelter chromatine positive (5 cellules XY; 5 cellules XXY). 1, record 87, French, - chromatine%20positive
Record 87, Spanish
Record 87, Textual support, Spanish
Record 88 - internal organization data 1981-04-21
Record 88, English
Record 88, Subject field(s)
- Genetics
- The Skin
Record 88, Main entry term, English
- Sydney line 1, record 88, English, Sydney%20line
Record 88, Abbreviations, English
Record 88, Synonyms, English
- Sydney crease 1, record 88, English, Sydney%20crease
Record 88, Textual support, English
Record number: 88, Textual support number: 1 DEF
A proximal transverse palmar crease that extends to the ulnar border of the hands. 1, record 88, English, - Sydney%20line
Record number: 88, Textual support number: 1 CONT
(Presumably balanced X/autosomal translocation) Dermatoglyphic findings. There are no simian lines, but an atypical Sydney line on the left palm. 1, record 88, English, - Sydney%20line
Record 88, French
Record 88, Domaine(s)
- Génétique
- Appareil cutané
Record 88, Main entry term, French
- pli de Sidney
1, record 88, French, pli%20de%20Sidney
masculine noun
Record 88, Abbreviations, French
Record 88, Synonyms, French
Record 88, Textual support, French
Record number: 88, Textual support number: 1 DEF
Crête palmaire transverse proximale s'étendant jusqu'au bord cubital des mains. 1, record 88, French, - pli%20de%20Sidney
Record number: 88, Textual support number: 1 CONT
(Trisomie 14q partielle) Les dermatoglyphes palmaires et digitaux ne montrent rien de très particulier. Il n'existe pas de pli de Sidney. 1, record 88, French, - pli%20de%20Sidney
Record 88, Spanish
Record 88, Textual support, Spanish
Record 89 - internal organization data 1981-02-23
Record 89, English
Record 89, Subject field(s)
- Genetics
Record 89, Main entry term, English
- pelger-huet anomaly 1, record 89, English, pelger%2Dhuet%20anomaly
Record 89, Abbreviations, English
Record 89, Synonyms, English
- Pelger’s anomaly 1, record 89, English, Pelger%26rsquo%3Bs%20anomaly
- Pelger’s nuclear anomaly 1, record 89, English, Pelger%26rsquo%3Bs%20nuclear%20anomaly
- Pelger-Huët nuclear anomaly 1, record 89, English, Pelger%2DHu%C3%ABt%20nuclear%20anomaly
- Pelger-Huët phenomenon 1, record 89, English, Pelger%2DHu%C3%ABt%20phenomenon
- false shift to the left 1, record 89, English, false%20shift%20to%20the%20left
Record 89, Textual support, English
Record number: 89, Textual support number: 1 DEF
An inherited defect interfering with normal lobulation of neutrophils and eosinophils so that the nuclei appear rodlike, spherical, or dumbbell-shaped. The nuclear structure is coarse and lumpy. 1, record 89, English, - pelger%2Dhuet%20anomaly
Record number: 89, Textual support number: 1 CONT
(Other autosomal anomalies) The same type of mosaicism is reported by Siebner et al.(1963) in two sibs with Pelger-Huët anomaly(granulocytes with rounded nuclei simulating mononuclears). 1, record 89, English, - pelger%2Dhuet%20anomaly
Record 89, French
Record 89, Domaine(s)
- Génétique
Record 89, Main entry term, French
- anomalie de Pelger-Huet
1, record 89, French, anomalie%20de%20Pelger%2DHuet
feminine noun
Record 89, Abbreviations, French
Record 89, Synonyms, French
Record 89, Textual support, French
Record number: 89, Textual support number: 1 DEF
Anomalie leucocytaire héréditaire, dominante, non liée au sexe, observée chez l'homme et dans diverses espèces animales, et dans laquelle les noyaux des granulocytes ne sont pas (ou ne sont que peu) polylobés; l'aspect de leur chromatine est grossier, mais on n'a observé aucune perturbation de la fonction des polymorphonucléaires. 1, record 89, French, - anomalie%20de%20Pelger%2DHuet
Record number: 89, Textual support number: 1 CONT
(Autres excès ou défauts autosomiques) Le même type de mosaïque est signalé par Siebner et cool. 1963, chez deux germains atteints d'anomalie de Pelger-Huet (granulocytes à noyaux arrondis simulant des mononucléaires). 1, record 89, French, - anomalie%20de%20Pelger%2DHuet
Record 89, Spanish
Record 89, Textual support, Spanish
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