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DO Term : cerebrocostomandibular syndrome [DOID:0111248] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.

synonyms:
cerebro-costo-mandibular syndrome,
UMLS_CUI:C0265342,
MESH:C562538,
SNOMEDCT_US_2023_03_01:51780007,
OMIM:117650,
CCMS,
CCM syndrome,
ORDO:1393,
117650,
rib gap defects with micrognathia,
GARD:6026

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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