OBO ID: DOID:0090032
Term Name: Silverman-Handmaker type dyssegmental dysplasia Search Ontology:
Synonyms:
Definition: An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (2)
References:
Ontology: Human Disease   ( DOID:0090032 )
Relationships
is a type of:
OTHER Silverman-Handmaker type dyssegmental dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type 224410
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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