MCID: PDD001
MIFTS: 5

Podder-Tolmie Syndrome

Categories: Rare diseases

Aliases & Classifications for Podder-Tolmie Syndrome

MalaCards integrated aliases for Podder-Tolmie Syndrome:

Name: Podder-Tolmie Syndrome 52 71
Meningoencephalocele, Arthrogryposis and Hypoplastic Thumbs 52

Classifications:



External Ids:

UMLS 71 C2931519

Summaries for Podder-Tolmie Syndrome

MalaCards based summary : Podder-Tolmie Syndrome, also known as meningoencephalocele, arthrogryposis and hypoplastic thumbs, is related to alkuraya-kucinskas syndrome and meningoencephalocele.

Related Diseases for Podder-Tolmie Syndrome

Diseases related to Podder-Tolmie Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alkuraya-kucinskas syndrome 10.3
2 meningoencephalocele 10.3
3 congenital amyoplasia 10.3

Symptoms & Phenotypes for Podder-Tolmie Syndrome

Drugs & Therapeutics for Podder-Tolmie Syndrome

Search Clinical Trials , NIH Clinical Center for Podder-Tolmie Syndrome

Genetic Tests for Podder-Tolmie Syndrome

Anatomical Context for Podder-Tolmie Syndrome

Publications for Podder-Tolmie Syndrome

Articles related to Podder-Tolmie Syndrome:

# Title Authors PMID Year
1
A cognitively normal boy with meningoencephalocele, arthrogryposis and hypoplastic thumbs. 61
7735508 1995

Variations for Podder-Tolmie Syndrome

Expression for Podder-Tolmie Syndrome

Search GEO for disease gene expression data for Podder-Tolmie Syndrome.

Pathways for Podder-Tolmie Syndrome

GO Terms for Podder-Tolmie Syndrome

Sources for Podder-Tolmie 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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