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DO Term : acrofrontofacionasal dysostosis [DOID:0060226] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.

synonyms:
OMIM:201180,
Richieri-Costa-Colletto syndrome,
MESH:C538186,
201180,
SNOMEDCT_US_2023_03_01:720408003,
AFFN dysostosis,
UMLS_CUI:C1860118,
OMIM:239710,
239710,
ORDO:1784

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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