Preferred Name |
Autosomal dominant palmoplantar keratoderma and congenital alopecia |
|
Synonyms |
Kératodermie palmoplantaire et alopécie congénitale type Stevanovic Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_1323 |
|
ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
altLabel |
Kératodermie palmoplantaire et alopécie congénitale type Stevanovic Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia PPK-CA, tipo Stevanovic Alopecia congenita e ipercheratosi palmoplantare autosomica dominante PPK-CA, Stevanovic type KPP-AC type Stevanovic PPK-CA type Stevanovic Hiperqueratosis palmoplantar autosómica dominante y alopecia congénita Palmoplantar keratoderma and congenital alopecia, Stevanovic type Hyperkératose palmoplantaire et alopécie congénitale autosomique dominante Queratodermia palmoplantar y alopecia congénita, tipo Stevanovic Cheratoderma palmoplantare e alopecia congenita, tipo Stevanovic Palmoplantarkeratose und kongenitale Alopezie Typ Stevanovic PPK-CA Typ Stevanovic Hyperkératose palmoplantaire et alopécie congénitale type Stevanovic PPK-CA, tipo Stevanovic |
|
id_Medline |
neant |
|
id_MIM |
104100 |
|
id_OMS |
Q82.8 |
|
id_Orpha |
1010 |
|
inheritance |
Autosomal dominant Autosomique dominant Autosomal dominant Autosomica dominante Autosómico dominate Autosomal-dominant Autossómica dominante |
|
patType |
disease |
|
prefixIRI |
hrdo:pat_id_1323 |
|
prefLabel |
Alopecia congenita e cheratoderma palmoplantare autosomico dominante Palmoplantarkeratose - kongenitale Alopezie, autosomal-dominant Queratodermia palmoplantar autosómica dominante y alopecia congénita Autosomal dominant palmoplantar keratoderma and congenital alopecia Kératodermie palmoplantaire et alopécie congénitale autosomique dominante Alopecia congénita - queratose palmoplantar |
|
prevalence |
<1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/MONDO_0007083 | EFO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0007083 | MONDO | LOOM | |
http://www.orpha.net/ORDO/Orphanet_1010 | ORDO | LOOM | |
http://purl.bioontology.org/ontology/SNOMEDCT/719518004 | SNOMEDCT | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0007083 | DOVES | LOOM |