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Disease Ontology Browser
3p deletion syndrome (DOID:0060417)
Alliance: disease page
Synonyms: chromosome 3pter-P25 deletion syndrome; distal monosomy 3p
Alt IDs: OMIM:613792, ICD10CM:Q93.5, ORDO:1620
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory