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DO Term : Seckel syndrome 2 [DOID:0070013] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
microcephalic primordial dwarfism 2,
OMIM:606744,
Seckel-type dwarfism 2,
SCKL2,
606744,
MESH:C537534

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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