loading...| Preferred Name |
Cafe-au-lait spot |
| Synonyms |
Cafe-au-lait macules Cafe-au-lait spots Birthmark Flat light-brown mark on skin Cafe-au-lait macule Cafe au lait spots |
| Definitions |
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. |
| ID |
http://purl.obolibrary.org/obo/HP_0000957 |
| comment |
The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. |
| database_cross_reference |
SNOMEDCT_US:201281002 UMLS:C0221263 SNOMEDCT_US:51089004 UMLS:C0265974 MSH:D019080 |
| definition |
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. |
| gwas_trait |
true |
| has_alternative_id |
HP:0005601 HP:0007454 |
| has_broad_synonym |
Birthmark Flat light-brown mark on skin |
| has_exact_synonym |
Cafe-au-lait macules Cafe-au-lait macule Cafe au lait spots |
| has_related_synonym |
Cafe-au-lait spots |
| id |
HP:0000957 |
| label |
Cafe-au-lait spot |
| notation |
HP:0000957 |
| prefLabel |
Cafe-au-lait spot |
| subClassOf |