WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060401 chromosome 16q22 deletion syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.

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:0060388 chromosomal deletion syndrome A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:0060401 chromosome 16q22 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.

4 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060388 DOID:0060401
is_a DOID:4 DOID:0060401
is_a DOID:0080014 DOID:0060401
is_a DOID:630 DOID:0060401

0 Synonyms