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Summary Literature (1)
DOID:0070013 - Seckel syndrome 2

Disease Ontology Definition:A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.

Synonyms: SCKL2, Seckel-type dwarfism 2, microcephalic primordial dwarfism 2,

Xenbase Genes : rbbp8

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011715 - Seckel syndrome 2


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Seckel syndrome (is_a)