WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110699 hypotrichosis 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33.

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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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: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:0110699 hypotrichosis 2 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:4535 DOID:0110699
is_a DOID:0050736 DOID:0110699
is_a DOID:16 DOID:0110699
is_a DOID:7 DOID:0110699
is_a DOID:421 DOID:0110699
is_a DOID:630 DOID:0110699
is_a DOID:4 DOID:0110699
is_a DOID:0050739 DOID:0110699
is_a DOID:0050177 DOID:0110699

4 Synonyms

Name Type
HTSS1 synonym
hypotrichosis simplex of the scalp 1 synonym
HYPT2 synonym
Spanish type hypotrichosis synonym