MCID: SHR090
MIFTS: 11

Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

MalaCards integrated aliases for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome:

Name: Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 58
Thong-Douglas-Ferrante Syndrome 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA2866

Summaries for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

MalaCards based summary : Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome, also known as thong-douglas-ferrante syndrome, is related to short stature deafness neutrophil dysfunction. Affiliated tissues include neutrophil, and related phenotypes are short stature and craniosynostosis

Related Diseases for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

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

# Related Disease Score Top Affiliating Genes
1 short stature deafness neutrophil dysfunction 11.8

Symptoms & Phenotypes for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

Human phenotypes related to Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
2 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
3 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
4 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
5 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
6 ectopic anus 58 31 frequent (33%) Frequent (79-30%) HP:0004397
7 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
8 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664

Drugs & Therapeutics for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

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

Genetic Tests for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

Anatomical Context for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

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

40
Neutrophil

Publications for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

Variations for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

Expression for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

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

Pathways for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

GO Terms for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

Sources for Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism...

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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