Preferred Name

Monilethrix

ID

http://www.orpha.net/ORDO/Orphanet_573

alternative_term

Moniliform hair syndrome

definition

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

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573

has_age_of_onset

Neonatal

Infancy

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-10:Q84.1

OMIM:158000

ICD-11:EC21.0

UMLS:C0546966

MeSH:D056734

label

Monilethrix

notation

ORPHA:573

part_of

http://www.orpha.net/ORDO/Orphanet_79366

prefixIRI

ORDO:Orphanet_573

prefLabel

Monilethrix

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_79366

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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