OFD18
MCID: ORL028
MIFTS: 6

Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy (OFD18)

Categories: Bone diseases, Fetal diseases, Oral diseases, Rare diseases

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

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

Name: Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy 58
Oral-Facial-Digital Syndrome Type 18 58
Orofaciodigital Syndrome Type 18 58
Ofd18 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA508501

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

MalaCards based summary : Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy, also known as oral-facial-digital syndrome type 18, is related to orofaciodigital syndrome xviii. An important gene associated with Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy 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 Brachymesophalangy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome xviii 11.4

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 Brachymesophalangy

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...

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 Brachymesophalangy.

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 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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