Maxillonasal Dysplasia, Binder Type

Alias:
Binder Syndrome
Maxillonasal Dysostosis
Maxillonasal Dysplasia
Binder Type Maxillonasal Dysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Maxillonasal Dysplasia, Binder Type, also known as binder syndrome, is related to dysostosis and leech infestation. An important gene associated with Maxillonasal Dysplasia, Binder Type is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1), and among its related pathways/superpathways is Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include bone and skin, and related phenotypes are depressed nasal bridge and short nose
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
10
88
9

Medical Symptom

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Categorization
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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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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