Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

monilethrix

Synonyms

nodose hair

monilethrix

moniliform hair syndrome

MNLIX

Definitions

Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

ID

http://purl.obolibrary.org/obo/MONDO_0008009

database_cross_reference

UMLS:C0546966

OMIM:158000

SCTID:69488000

OMIM:252200

NCIT:C84894

GARD:0000093

Orphanet:573

DOID:0050472

MESH:D056734

definition

Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

exactMatch

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

http://identifiers.org/mesh/D056734

http://linkedlifedata.com/resource/umls/id/C0546966

http://purl.obolibrary.org/obo/Orphanet_573

http://identifiers.org/snomedct/69488000

http://purl.obolibrary.org/obo/NCIT_C84894

https://omim.org/entry/158000

has_exact_synonym

monilethrix

moniliform hair syndrome

has_related_synonym

nodose hair

MNLIX

id

MONDO:0008009

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#gard_rare

label

monilethrix

notation

MONDO:0008009

prefLabel

monilethrix

seeAlso

https://rarediseases.info.nih.gov/diseases/93/monilethrix

treeView

http://purl.obolibrary.org/obo/MONDO_0019281

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0021026

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019281

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0021026

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