MCID: ORF005
MIFTS: 15

Orofaciodigital Syndrome 12

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Orofaciodigital Syndrome 12

MalaCards integrated aliases for Orofaciodigital Syndrome 12:

Name: Orofaciodigital Syndrome 12 54 74
Oral-Facial-Digital Syndrome Type 12 54 60
Orofaciodigital Syndrome Type 12 54 60
Moran-Barroso Syndrome 54 60
Ofd12 54 60
Oral Facial Digital Syndrome Type 12 54
Oral Facial Digital Syndrome 12 54
Oral-Facial-Digital Syndrome 12 54
Orofaciodigital Syndrome Xii 54
Ofds 12 54

Classifications:



External Ids:

MESH via Orphanet 46 C548034
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C2932679
Orphanet 60 ORPHA141327
UMLS 74 C2932679

Summaries for Orofaciodigital Syndrome 12

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 141327Disease definitionOrofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome 12, is also known as oral-facial-digital syndrome type 12. Affiliated tissues include tongue, bone and eye.

Related Diseases for Orofaciodigital Syndrome 12

Symptoms & Phenotypes for Orofaciodigital Syndrome 12

Drugs & Therapeutics for Orofaciodigital Syndrome 12

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome 12

Genetic Tests for Orofaciodigital Syndrome 12

Anatomical Context for Orofaciodigital Syndrome 12

MalaCards organs/tissues related to Orofaciodigital Syndrome 12:

42
Tongue, Bone, Eye

Publications for Orofaciodigital Syndrome 12

Variations for Orofaciodigital Syndrome 12

Expression for Orofaciodigital Syndrome 12

Search GEO for disease gene expression data for Orofaciodigital Syndrome 12.

Pathways for Orofaciodigital Syndrome 12

GO Terms for Orofaciodigital Syndrome 12

Sources for Orofaciodigital Syndrome 12

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
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