WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110835 Usher syndrome type 1H Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23.

1 Ontology

Name
Disease Ontology

9 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:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:0050439 Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment.
DOID:0110826 Usher syndrome type 1 An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
DOID:0110835 Usher syndrome type 1H An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0110826 DOID:0110835
is_a DOID:225 DOID:0110835
is_a DOID:630 DOID:0110835
is_a DOID:0050177 DOID:0110835
is_a DOID:4 DOID:0110835
is_a DOID:0050737 DOID:0110835
is_a DOID:0050439 DOID:0110835
is_a DOID:0050739 DOID:0110835

2 Synonyms

Name Type
Usher syndrome type IH synonym
USH1H synonym