MCID: SLV009
MIFTS: 7

Slavotinek Pike Mills Hurst Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Slavotinek Pike Mills Hurst Syndrome

MalaCards integrated aliases for Slavotinek Pike Mills Hurst Syndrome:

Name: Slavotinek Pike Mills Hurst Syndrome 52 71
Cataracts, Motor System Disorder, Short Stature, Learning Difficulties, and Skeletal Abnormalities 52

Classifications:



External Ids:

UMLS 71 C2931283

Summaries for Slavotinek Pike Mills Hurst Syndrome

MalaCards based summary : Slavotinek Pike Mills Hurst Syndrome, also known as cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities, is related to spastic paraplegia 9a, autosomal dominant and cataract. Affiliated tissues include bone.

Related Diseases for Slavotinek Pike Mills Hurst Syndrome

Diseases related to Slavotinek Pike Mills Hurst Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 9a, autosomal dominant 10.3
2 cataract 10.3
3 obsolete: autosomal dominant spastic paraplegia type 9 10.3

Symptoms & Phenotypes for Slavotinek Pike Mills Hurst Syndrome

Drugs & Therapeutics for Slavotinek Pike Mills Hurst Syndrome

Search Clinical Trials , NIH Clinical Center for Slavotinek Pike Mills Hurst Syndrome

Genetic Tests for Slavotinek Pike Mills Hurst Syndrome

Anatomical Context for Slavotinek Pike Mills Hurst Syndrome

MalaCards organs/tissues related to Slavotinek Pike Mills Hurst Syndrome:

40
Bone

Publications for Slavotinek Pike Mills Hurst Syndrome

Articles related to Slavotinek Pike Mills Hurst Syndrome:

# Title Authors PMID Year
1
Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? 61
8779323 1996

Variations for Slavotinek Pike Mills Hurst Syndrome

Expression for Slavotinek Pike Mills Hurst Syndrome

Search GEO for disease gene expression data for Slavotinek Pike Mills Hurst Syndrome.

Pathways for Slavotinek Pike Mills Hurst Syndrome

GO Terms for Slavotinek Pike Mills Hurst Syndrome

Sources for Slavotinek Pike Mills Hurst Syndrome

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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