WormMine: DiseaseOntology DOID:0111159 partial trisomy distal 4q Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.

1 Ontology

• Name: Disease Ontology

5 Parents

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0080014	chromosomal disease	A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:0060429	chromosomal duplication syndrome	A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
DOID:0111159	partial trisomy distal 4q	A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.

4 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0060429	DOID:0111159
is_a	DOID:0080014	DOID:0111159
is_a	DOID:4	DOID:0111159
is_a	DOID:630	DOID:0111159

5 Synonyms

• Name: Chromosome 4, Partial Trisomy 4q
• Type: synonym

• Name: Distal 4q Trisomy
• Type: synonym

• Name: Dup(4q) Syndrome, Partial
• Type: synonym

• Name: Duplication 4q Syndrome, Partial
• Type: synonym

• Name: Partial Trisomy 4q Syndrome
• Type: synonym