MCID: SHR090
MIFTS: 10

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 59
Thong-Douglas-Ferrante Syndrome 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.1
Orphanet 59 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 sensorineural hearing impairment and short stature

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
2 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
3 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
4 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
5 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
6 ectopic anus 59 32 frequent (33%) Frequent (79-30%) HP:0004397
7 mutism 59 32 frequent (33%) Frequent (79-30%) HP:0002300
8 neoplasm 59 32 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:

41
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 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
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