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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,
Echinobase Genes :
MIM:606744 - seckel syndrome 2; sckl2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Seckel syndrome (is_a)