MCID: ORL027
MIFTS: 8

Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia

Categories: Rare diseases, Oral diseases

Aliases & Classifications for Oral-Facial-Digital Syndrome with Short Stature and...

MalaCards integrated aliases for Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia:

Name: Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia 59
Oral-Facial-Digital Syndrome Type 18 59
Orofaciodigital Syndrome Type 18 59
Ofd18 59

Classifications:



External Ids:

Orphanet 59 ORPHA508501

Summaries for Oral-Facial-Digital Syndrome with Short Stature and...

MalaCards based summary : Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia, also known as oral-facial-digital syndrome type 18, is related to orofaciodigital syndrome xviii and orofaciodigital syndrome. An important gene associated with Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia is IFT57 (Intraflagellar Transport 57).

Related Diseases for Oral-Facial-Digital Syndrome with Short Stature and...

Diseases related to Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome xviii 10.9
2 orofaciodigital syndrome 10.3

Symptoms & Phenotypes for Oral-Facial-Digital Syndrome with Short Stature and...

Drugs & Therapeutics for Oral-Facial-Digital Syndrome with Short Stature and...

Search Clinical Trials , NIH Clinical Center for Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia

Genetic Tests for Oral-Facial-Digital Syndrome with Short Stature and...

Anatomical Context for Oral-Facial-Digital Syndrome with Short Stature and...

Publications for Oral-Facial-Digital Syndrome with Short Stature and...

Articles related to Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia:

# Title Authors Year
1
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. ( 27060890 )
2016

Variations for Oral-Facial-Digital Syndrome with Short Stature and...

Expression for Oral-Facial-Digital Syndrome with Short Stature and...

Search GEO for disease gene expression data for Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangia.

Pathways for Oral-Facial-Digital Syndrome with Short Stature and...

GO Terms for Oral-Facial-Digital Syndrome with Short Stature and...

Sources for Oral-Facial-Digital Syndrome with Short Stature and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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