OFD13
MCID: ORF006
MIFTS: 12

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, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome 13

MalaCards integrated aliases for Orofaciodigital Syndrome 13:

Name: Orofaciodigital Syndrome 13 20 70
Oral-Facial-Digital Syndrome Type 13 20 58
Orofaciodigital Syndrome Type 13 20 58
Degner Syndrome 20 58
Ofd13 20 58
Oral Facial Digital Syndrome Type 13 20
Oral-Facial-Digital Syndrome Xiii 20
Oral Facial Digital Syndrome 13 20
Oral-Facial-Digital Syndrome 13 20
Orofaciodigital Syndrome Xiii 20
Ofd Syndrome 13 20
Ofds 13 20

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C548035
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C2932680
Orphanet 58 ORPHA141330
UMLS 70 C2932680

Summaries for Orofaciodigital Syndrome 13

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141330 Definition Orofaciodigital 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.

MalaCards based summary : Orofaciodigital Syndrome 13, also known as oral-facial-digital syndrome type 13, is related to orofaciodigital syndrome. Affiliated tissues include eye.

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:

40
Eye

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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