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MCID: SHR016
MIFTS: 4
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Short Stature Deafness Neutrophil Dysfunction
Categories:
Ear diseases, Rare diseases
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MalaCards integrated aliases for Short Stature Deafness Neutrophil Dysfunction:
Name: Short Stature Deafness Neutrophil Dysfunction
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Classifications: |
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NIH Rare Diseases
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2866DefinitionShort stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).EpidemiologyIt has been described in two siblings.Visit the Orphanet disease page for more resources.
MalaCards based summary : Short Stature Deafness Neutrophil Dysfunction, also known as thong douglas ferrante syndrome, is related to short stature-deafness-neutrophil dysfunction-dysmorphism syndrome. Affiliated tissues include neutrophil. |
Diseases related to Short Stature Deafness Neutrophil Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:
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MalaCards organs/tissues related to Short Stature Deafness Neutrophil Dysfunction:41
Neutrophil
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Search
GEO
for disease gene expression data for Short Stature Deafness Neutrophil Dysfunction.
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