Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Autosomal dominant palmoplantar keratoderma and congenital alopecia
Synonyms

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia

PPK-CA, Stevanovic type

Palmoplantar keratoderma and congenital alopecia, Stevanovic type
Definitions

A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
ID

http://www.orpha.net/ORDO/Orphanet_1010
alternative_term

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia

PPK-CA, Stevanovic type

Palmoplantar keratoderma and congenital alopecia, Stevanovic type
definition

A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1010
has_age_of_onset

Infancy

Neonatal
has_inheritance

Autosomal dominant
hasDbXref

ICD-10:Q82.8

UMLS:C4304669

ICD-11:LD27.0Y

OMIM:104100
label

Autosomal dominant palmoplantar keratoderma and congenital alopecia
notation

ORPHA:1010
part_of

http://www.orpha.net/ORDO/Orphanet_79373

http://www.orpha.net/ORDO/Orphanet_98352
prefixIRI

ORDO:Orphanet_1010
prefLabel

Autosomal dominant palmoplantar keratoderma and congenital alopecia
present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 10.0 (Case)
treeView

http://www.orpha.net/ORDO/Orphanet_79373

http://www.orpha.net/ORDO/Orphanet_98352
subClassOf

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

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