OFD18
MCID: ORL028
MIFTS: 8

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 60
Oral-Facial-Digital Syndrome Type 18 60
Orofaciodigital Syndrome Type 18 60
Ofd18 60

Classifications:



External Ids:

Orphanet 60 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). Affiliated tissues include bone.

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 11.8

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...

MalaCards organs/tissues related to Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy:

42
Bone

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....