OBO ID: DOID:0111507
Term Name: Lenz-Majewski hyperostotic dwarfism Search Ontology:
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 Lenz-Majewski hyperostotic dwarfism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTDSS1 Lenz-Majewski hyperostotic dwarfism 151050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.