Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Woolly hair
Synonyms

Familial woolly hair syndrome

Hereditary wooly hair syndrome

Familial wooly hair syndrome

Hereditary woolly hair syndrome

Wooly hair

Definitions

A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.

ID

http://www.orpha.net/ORDO/Orphanet_170

alternative_term

Familial woolly hair syndrome

Hereditary wooly hair syndrome

Familial wooly hair syndrome

Hereditary woolly hair syndrome

Wooly hair

definition

A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=170

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-11:EC21.0

OMIM:604379

OMIM:194300

UMLS:C0343073

MeSH:C536745

OMIM:278150

MedDRA:10048017

OMIM:616760

OMIM:615896

ICD-10:Q84.1

label

Woolly hair

notation

ORPHA:170

part_of

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

prefixIRI

ORDO:Orphanet_170

prefLabel

Woolly hair

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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