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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: 2866 Definition A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature , sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. 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:40
Neutrophil
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Search
GEO
for disease gene expression data for Short Stature Deafness Neutrophil Dysfunction.
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