WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.

1 Ontology

Name
Disease Ontology

8 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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0080009 X-linked dominant disease A X-linked monogenic disease that has_material_basis_in dominant inheritance.
DOID:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
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:0060461 chromosome Xp11.23-p11.22 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060429 DOID:0060461
is_a DOID:0080009 DOID:0060461
is_a DOID:0050735 DOID:0060461
is_a DOID:4 DOID:0060461
is_a DOID:630 DOID:0060461
is_a DOID:0050177 DOID:0060461
is_a DOID:0080014 DOID:0060461

2 Synonyms

Name Type
microduplication Xp11.22-p11.23 syndrome synonym
trisomy Xp11.22-p11.23 synonym