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DO Term : Norman-Roberts syndrome [DOID:0060902] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.

synonyms:
SNOMEDCT_US_2023_03_01:717977003,
UMLS_CUI:C0796089,
lissencephaly 2,
ORDO:89844,
lissencephaly syndrome, Norman-Roberts type,
257320,
MESH:C537848,
OMIM:257320

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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