Meckel syndrome
cv_term_accession
KW-0981
canonical
uniprot_keyword
KW-0981
canonical
name
Meckel syndrome
uniprot
synonym
Dysencephalia splanchnocystica
uniprot
synonym
Gruber syndrome
uniprot
synonym
MKS
uniprot
synonym
Meckel-Gruber syndrome
uniprot
definition
Protein which, if defective, causes Meckel syndrome, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords