Search Ontology:
Human Disease

Lenz-Majewski hyperostotic dwarfism

Term ID
DOID:0111507
Synonyms
  • Lenz-Majewski syndrome
Definition
A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/24241535
References
Ontology
Human Disease   ( DOID:0111507 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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