Orofaciodigital Syndrome (OFD)

Alias:
Oral-Facial-Digital Syndrome
Ofd
Oral Facial Digital Syndrome
Orofaciodigital Syndrome I
Oro-Facio-Digital Syndrome
Orodigitofacial Dysostosis
Orofaciodigital Syndromes
Dysplasia Linguofacialis
Orodigitofacial Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Orofaciodigital Syndrome, also known as oral-facial-digital syndrome, is related to orofaciodigital syndrome iv and orofaciodigital syndrome xvi, and has symptoms including seizures An important gene associated with Orofaciodigital Syndrome is TMEM107 (Transmembrane Protein 107), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include tongue and bone, and related phenotypes are growth/size/body region and nervous system
Related ID:
MESH:D009958
ICD11:1405407847

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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40
225
3

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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