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 53
Thong Douglas Ferrante Syndrome 53

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Short Stature Deafness Neutrophil Dysfunction

NIH Rare Diseases : 53 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.

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:

41
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....