OFD12
MCID: ORF005
MIFTS: 13

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 52 71
Oral-Facial-Digital Syndrome Type 12 52 58
Orofaciodigital Syndrome Type 12 52 58
Moran-Barroso Syndrome 52 58
Ofd12 52 58
Oral Facial Digital Syndrome Type 12 52
Oral Facial Digital Syndrome 12 52
Oral-Facial-Digital Syndrome 12 52
Orofaciodigital Syndrome Xii 52
Ofds 12 52

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C548034
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C2932679
Orphanet 58 ORPHA141327
UMLS 71 C2932679

Summaries for Orofaciodigital Syndrome 12

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141327 Definition Orofaciodigital 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, also known as oral-facial-digital syndrome type 12, is related to orofaciodigital syndrome. 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:

40
Tongue, Bone, Eye, Skin

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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