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DOID:0070118 - Meckel syndrome 4
Disease Ontology Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.
Synonyms: MKS4, Meckel-Gruber syndrome, type 4,
Echinobase Genes : cep290
MIM:611134 - meckel syndrome, type 4; mks4 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Meckel syndrome (is_a)