Meckel syndrome 1

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Summary

Literature (0)

DOID:0070115 - Meckel syndrome 1

Disease Ontology Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.

Synonyms: Meckel-Gruber syndrome, type 1, MKS1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mks1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009571 - Meckel syndrome, type 1

MONDO:0009571 - Meckel syndrome, type 1

MIM:

MIM:249000 - MECKEL SYNDROME, TYPE 1; MKS1

MIM:249000 - MECKEL SYNDROME, TYPE 1; MKS1

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)