OBO ID: DOID:0050774
Term Name: rapadilino syndrome Search Ontology:
Synonyms:
Definition: An autosomal recessive disease that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome
References:
Ontology: Human Disease   (DOID:0050774)
Relationships
is a type of:
OTHER rapadilino syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RECQL4 RAPADILINO syndrome 266280
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None