OFD13
MCID: ORF006
MIFTS: 15

Orofaciodigital Syndrome 13 (OFD13)

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 13

MalaCards integrated aliases for Orofaciodigital Syndrome 13:

Name: Orofaciodigital Syndrome 13 54 74
Oral-Facial-Digital Syndrome Type 13 54 60
Orofaciodigital Syndrome Type 13 54 60
Degner Syndrome 54 60
Ofd13 54 60
Oral Facial Digital Syndrome Type 13 54
Oral-Facial-Digital Syndrome Xiii 54
Oral Facial Digital Syndrome 13 54
Oral-Facial-Digital Syndrome 13 54
Orofaciodigital Syndrome Xiii 54
Ofd Syndrome 13 54
Ofds 13 54

Classifications:



External Ids:

MESH via Orphanet 46 C548035
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C2932680
Orphanet 60 ORPHA141330
UMLS 74 C2932680

Summaries for Orofaciodigital Syndrome 13

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 141330Disease definitionOrofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome 13, is also known as oral-facial-digital syndrome type 13. Affiliated tissues include brain and bone.

Related Diseases for Orofaciodigital Syndrome 13

Symptoms & Phenotypes for Orofaciodigital Syndrome 13

Drugs & Therapeutics for Orofaciodigital Syndrome 13

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome 13

Genetic Tests for Orofaciodigital Syndrome 13

Anatomical Context for Orofaciodigital Syndrome 13

MalaCards organs/tissues related to Orofaciodigital Syndrome 13:

42
Brain, Bone

Publications for Orofaciodigital Syndrome 13

Variations for Orofaciodigital Syndrome 13

Expression for Orofaciodigital Syndrome 13

Search GEO for disease gene expression data for Orofaciodigital Syndrome 13.

Pathways for Orofaciodigital Syndrome 13

GO Terms for Orofaciodigital Syndrome 13

Sources for Orofaciodigital Syndrome 13

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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