OBO ID: DOID:0050640
Term Name: anauxetic dysplasia 1 Search Ontology:
Synonyms:
  • spondylometaepiphyseal dysplasia, Menger type
Definition: An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (2)
References:
Ontology: Human Disease   ( DOID:0050640 )
Relationships
is a type of:
OTHER anauxetic dysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RMRP Anauxetic dysplasia 1
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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