3p deletion syndrome

Summary

DOID:0060417 - 3p deletion syndrome

Disease Ontology Definition:A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.

Synonyms: chromosome 3pter-P25 deletion syndrome, distal monosomy 3p,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013424 - 3p- syndrome

MONDO:0013424 - 3p- syndrome

OMIM:

OMIM:613792 - CHROMOSOME 3pter-p25 DELETION SYNDROME

OMIM:613792 - CHROMOSOME 3pter-p25 DELETION SYNDROME

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), chromosomal deletion syndrome (is_a)