Human Phenotype Ontology

Last uploaded: April 26, 2024
Preferred Name

Cafe-au-lait spot

Synonyms

Cafe au lait spots

Cafe-au-lait macules

Cafe-au-lait macule

Flat light-brown mark on skin

Birthmark

Cafe-au-lait spots

Definitions

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. 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.

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

SNOMEDCT_US:51089004

MSH:D019080

UMLS:C0265974

UMLS:C0221263

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.

has_alternative_id

HP:0007454

HP:0005601

has_broad_synonym

Flat light-brown mark on skin

Birthmark

has_exact_synonym

Cafe au lait spots

Cafe-au-lait macules

Cafe-au-lait macule

has_obo_namespace

human_phenotype

has_related_synonym

Cafe-au-lait spots

id

HP:0000957

label

Cafe-au-lait spot

notation

HP:0000957

prefLabel

Cafe-au-lait spot

treeView

http://purl.obolibrary.org/obo/HP_0001034

subClassOf

http://purl.obolibrary.org/obo/HP_0001034

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