Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

monilethrix

Definitions

A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050472

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:Q84.1

OMIM:158000

UMLS_CUI:C0546966

SNOMEDCT_US_2022_09_01:69488000

MESH:D056734

NCI:C84894

GARD:93

definition

A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0050472

in_subset

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

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

label

monilethrix

notation

DOID:0050472

prefLabel

monilethrix

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

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

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