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DO Term : mandibulofacial dysostosis, Guion-Almeida type [DOID:0080196] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.

synonyms:
ORDO:79113,
OMIM:610536,
mandibulofacial dysostosis-microcephaly syndrome,
MFDM syndrome,
mandibulofacial dysostosis with microcephaly,
610536,
GARD:10056

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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