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DYSPLASIE THANATOPHORE [1 record]
Record 1 - internal organization data 2015-04-20
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Bones and Joints
Record 1, Main entry term, English
- thanatophoric dysplasia
1, record 1, English, thanatophoric%20dysplasia
correct
Record 1, Abbreviations, English
- TD 1, record 1, English, TD
correct
Record 1, Synonyms, English
- thanatophoric dwarfism 2, record 1, English, thanatophoric%20dwarfism
correct
- thanatophore nanism 3, record 1, English, thanatophore%20nanism
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
... short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. 4, record 1, English, - thanatophoric%20dysplasia
Record number: 1, Textual support number: 1 CONT
Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more common form of short-limbed dwarfism that is compatible with life. 4, record 1, English, - thanatophoric%20dysplasia
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Os et articulations
Record 1, Main entry term, French
- dysplasie thanatophorique
1, record 1, French, dysplasie%20thanatophorique
correct, feminine noun
Record 1, Abbreviations, French
- DT 2, record 1, French, DT
correct, feminine noun
- TD 3, record 1, French, TD
feminine noun
Record 1, Synonyms, French
- nanisme thanatophore 4, record 1, French, nanisme%20thanatophore
correct, masculine noun
- NT 5, record 1, French, NT
correct, masculine noun
- NT 5, record 1, French, NT
- dysplasie thanatophore 6, record 1, French, dysplasie%20thanatophore
correct, feminine noun
- DT 6, record 1, French, DT
correct, feminine noun
- DT 6, record 1, French, DT
- nanisme thanatophorique 2, record 1, French, nanisme%20thanatophorique
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
La dysplasie thanatophore(DT) est une grave maladie du squelette qui est mortelle dans la période néo-natale. [...] La plupart des individus souffrant de DT meurent au cours des premières heures ou des premiers jours de leur vie d’une insuffisance respiratoire secondaire due à la réduction de la capacité thoracique ou à la compression du tronc cérébral. 7, record 1, French, - dysplasie%20thanatophorique
Record number: 1, Textual support number: 1 OBS
Nanismes : dysplasie thanatophorique (TDI, TDII), achondroplasie, SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans), hypochondroplasie. 3, record 1, French, - dysplasie%20thanatophorique
Record 1, Spanish
Record 1, Textual support, Spanish
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