Seckel syndrome 2

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Summary

Literature (0)

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

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

: rbbp8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011715 - Seckel syndrome 2

MONDO:0011715 - Seckel syndrome 2

MIM:

MIM:606744 - SECKEL SYNDROME 2; SCKL2

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)