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DeCS
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Descriptor English:
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Achondroplasia
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Descriptor Spanish:
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Acondroplasia
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Descriptor Portuguese:
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Acondroplasia
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Synonyms English:
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Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
SADDAN
SADDAN Dysplasia
Skeleton-Skin-Brain Syndrome
Achondroplasias
Dysplasia, SADDAN
Dysplasias, SADDAN
SADDAN Dysplasias
SADDANs
Skeleton Skin Brain Syndrome
Skeleton-Skin-Brain Syndromes
Syndrome, Skeleton-Skin-Brain
Syndromes, Skeleton-Skin-Brain
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
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Tree Number:
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C05.116.099.343.110
C05.116.099.708.017
C16.320.240.500
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Definition English:
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An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) |
See Related English:
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Receptor, Fibroblast Growth Factor, Type 3
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Allowable Qualifiers English:
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Record Number:
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139
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Unique Identifier:
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D000130
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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