MCID: AKS002
MIFTS: 4

Aksu Von Stockhausen Syndrome

Categories: Rare diseases

Aliases & Classifications for Aksu Von Stockhausen Syndrome

MalaCards integrated aliases for Aksu Von Stockhausen Syndrome:

Name: Aksu Von Stockhausen Syndrome 20 70
Hereditary Branchial Arch Defects 20

Classifications:



External Ids:

UMLS 70 C2930949

Summaries for Aksu Von Stockhausen Syndrome

MalaCards based summary : Aksu Von Stockhausen Syndrome, also known as hereditary branchial arch defects, is related to branchial arch defects.

Related Diseases for Aksu Von Stockhausen Syndrome

Diseases related to Aksu Von Stockhausen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchial arch defects 10.1

Symptoms & Phenotypes for Aksu Von Stockhausen Syndrome

Drugs & Therapeutics for Aksu Von Stockhausen Syndrome

Search Clinical Trials , NIH Clinical Center for Aksu Von Stockhausen Syndrome

Genetic Tests for Aksu Von Stockhausen Syndrome

Anatomical Context for Aksu Von Stockhausen Syndrome

Publications for Aksu Von Stockhausen Syndrome

Articles related to Aksu Von Stockhausen Syndrome:

# Title Authors PMID Year
1
Hereditary branchial arch defects in a Turkish family. 61
6468450 1984

Variations for Aksu Von Stockhausen Syndrome

Expression for Aksu Von Stockhausen Syndrome

Search GEO for disease gene expression data for Aksu Von Stockhausen Syndrome.

Pathways for Aksu Von Stockhausen Syndrome

GO Terms for Aksu Von Stockhausen Syndrome

Sources for Aksu Von Stockhausen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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