WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110703 hypotrichosis 6 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.

1 Ontology

Name
Disease Ontology

10 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
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:16 integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
DOID:421 hair disease An integumentary system disease that is located_in hair.
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:4535 hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
DOID:0110703 hypotrichosis 6 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:4535 DOID:0110703
is_a DOID:0050737 DOID:0110703
is_a DOID:421 DOID:0110703
is_a DOID:630 DOID:0110703
is_a DOID:0050177 DOID:0110703
is_a DOID:4 DOID:0110703
is_a DOID:16 DOID:0110703
is_a DOID:7 DOID:0110703
is_a DOID:0050739 DOID:0110703

5 Synonyms

Name Type
LAH1 synonym
Monilethrix-like hypotrichosis synonym
autosomal recessive localized hypotrichosis synonym
Hypotrichosis, Localized, Autosomal Recessive 1 synonym
HYPT6 synonym