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DeCS
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Descriptor English:
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Langer-Giedion Syndrome
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Descriptor Spanish:
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Síndrome de Langer-Giedion
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Descriptor Portuguese:
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Síndrome de Langer-Giedion
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Synonyms English:
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Acrodysplasia V
Acrodysplasia Vs
Giedion Langer Syndrome
Giedion-Langer Syndrome
Langer Giedion Syndrome
Syndrome, Giedion-Langer
Syndrome, Langer-Giedion
TRPSII
Tricho Rhino Phalangeal Syndrome Type II
Tricho-Rhino-Phalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type 2
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
Trichorhinophalangeal Syndrome, Type II
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Tree Number:
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C05.116.099.708.582
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Definition English:
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Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). |
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Indexing Annotation English:
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an osteochondrodysplasia
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History Note English:
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90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
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Allowable Qualifiers English:
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Record Number:
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24765
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Unique Identifier:
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D015826
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Occurrence in VHL:
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Similar:
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DeCS
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