loading...| Preferred Name | wooly hair nevus | |
| Synonyms |
wooly hair nevus |
|
| Definitions |
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019311 |
|
| database_cross_reference |
MEDGEN:575391 SCTID:239124001 UMLS:C0343114 Orphanet:79414 GARD:13025 |
|
| definition |
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. |
|
| has_exact_synonym |
wooly hair nevus |
|
| id |
MONDO:0019311 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
wooly hair nevus |
|
| notation |
MONDO:0019311 |
|
| preferred label |
wooly hair nevus |
|
| prefLabel |
wooly hair nevus |
|
| skos_exactMatch |
http://identifiers.org/medgen/575391 http://linkedlifedata.com/resource/umls/id/C0343114 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019311 | CCONT | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019311 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019311 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019311 | CCONT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019311 | MONDO | LOOM | |
| http://sbmi.uth.tmc.edu/ontology/ochv#C0343114 | OCHV | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/239124001 | SNOMEDCT | LOOM |