ZFIN Human Disease: rapadilino syndrome

OBO ID: DOID:0050774

Term Name:	rapadilino syndrome		Search Ontology:
Synonyms:
Definition:	A syndrome 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:	GARD:4637 MESH:C535288 OMIM:266280 ORDO:3021 SNOMEDCT_US_2023_03_01:702413000 UMLS_CUI:C1849453
Ontology:	Human Disease ( DOID:0050774 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RECQL4	recql4	RAPADILINO syndrome	266280

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None