MCID: SHR016
MIFTS: 4

Short Stature Deafness Neutrophil Dysfunction

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Short Stature Deafness Neutrophil Dysfunction

MalaCards integrated aliases for Short Stature Deafness Neutrophil Dysfunction:

Name: Short Stature Deafness Neutrophil Dysfunction 52
Thong Douglas Ferrante Syndrome 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Short Stature Deafness Neutrophil Dysfunction

NIH Rare Diseases : 52 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.

Related Diseases for Short Stature Deafness Neutrophil Dysfunction

Diseases related to Short Stature Deafness Neutrophil Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 12.6

Symptoms & Phenotypes for Short Stature Deafness Neutrophil Dysfunction

Drugs & Therapeutics for Short Stature Deafness Neutrophil Dysfunction

Search Clinical Trials , NIH Clinical Center for Short Stature Deafness Neutrophil Dysfunction

Genetic Tests for Short Stature Deafness Neutrophil Dysfunction

Anatomical Context for Short Stature Deafness Neutrophil Dysfunction

MalaCards organs/tissues related to Short Stature Deafness Neutrophil Dysfunction:

40
Neutrophil

Publications for Short Stature Deafness Neutrophil Dysfunction

Variations for Short Stature Deafness Neutrophil Dysfunction

Expression for Short Stature Deafness Neutrophil Dysfunction

Search GEO for disease gene expression data for Short Stature Deafness Neutrophil Dysfunction.

Pathways for Short Stature Deafness Neutrophil Dysfunction

GO Terms for Short Stature Deafness Neutrophil Dysfunction

Sources for Short Stature Deafness Neutrophil Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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