OFD12
MCID: ORF005
MIFTS: 12

Orofaciodigital Syndrome 12 (OFD12)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome 12

MalaCards integrated aliases for Orofaciodigital Syndrome 12:

Name: Orofaciodigital Syndrome 12 53 72
Oral-Facial-Digital Syndrome Type 12 53 59
Orofaciodigital Syndrome Type 12 53 59
Moran-Barroso Syndrome 53 59
Ofd12 53 59
Oral Facial Digital Syndrome Type 12 53
Oral Facial Digital Syndrome 12 53
Oral-Facial-Digital Syndrome 12 53
Orofaciodigital Syndrome Xii 53
Ofds 12 53

Classifications:



External Ids:

MESH via Orphanet 45 C548034
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C2932679
Orphanet 59 ORPHA141327
UMLS 72 C2932679

Summaries for Orofaciodigital Syndrome 12

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 141327DefinitionOrofaciodigital 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 and bone.

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:

41
Tongue, Bone

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
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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