MCID: PDD001
MIFTS: 6

Podder-Tolmie Syndrome

Categories: Rare diseases

Aliases & Classifications for Podder-Tolmie Syndrome

MalaCards integrated aliases for Podder-Tolmie Syndrome:

Name: Podder-Tolmie Syndrome 53 72
Meningoencephalocele, Arthrogryposis and Hypoplastic Thumbs 53

Classifications:



External Ids:

UMLS 72 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. 38
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 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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