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chromosome 1p36 deletion syndrome (DOID:0060410)
Alliance: disease page
Synonyms: 1p36 deletion syndrome; deletion 1p36; monosomy 1p36; subtelomeric 1p36 deletion
Alt IDs: OMIM:607872, MESH:C535362, NCI:C74983, ORDO:1606, UMLS_CUI:C1842870
Definition: A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.

Disease References using Mouse Models (2)

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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory