chromosome 1p36 deletion syndrome

Summary

DOID:0060410 - chromosome 1p36 deletion syndrome

Disease Ontology 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.

Synonyms: 1p36 deletion syndrome, deletion 1p36, monosomy 1p36, subtelomeric 1p36 deletion,

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:0011929 - chromosome 1p36 deletion syndrome

MONDO:0011929 - chromosome 1p36 deletion syndrome

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

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

Parent(s): chromosomal deletion syndrome (is_a)