Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

hypotrichosis

Definitions

Xref MGI. 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.

ID

http://purl.obolibrary.org/obo/DOID_4535

comment

Xref MGI.

database_cross_reference

UMLS_CUI:C0020678

SNOMEDCT_US_2022_09_01:53602002

OMIM:PS605389

MESH:D007039

ORDO:55654

definition

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.

has_obo_namespace

disease_ontology

id

DOID:4535

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

hypotrichosis

notation

DOID:4535

prefLabel

hypotrichosis

subClassOf

http://purl.obolibrary.org/obo/DOID_421

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http://purl.bioontology.org/ontology/MESH/D007039 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002744 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34720 National Cancer Institute Thesaurus LOOM