familial progressive hyperpigmentation

familial progressive hyperpigmentation

http://purl.obolibrary.org/obo/MONDO_0013648

Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated. [ Orphanet:79146 ]

Synonyms: melanosis universalis hereditaria universal melanosis melanosis diffusa congenita

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Term mappings

This is just here as a test because I lose it

Term information

database cross reference

GARD:16706 (MONDO:GARD)
OMIM:614233 (Orphanet:79146/e)
Orphanet:79146 (OMIM:614233)
SCTID:715630006 (MONDO:equivalentTo)

Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/snomedct/715630006

https://omim.org/entry/614233

http://www.orpha.net/ORDO/Orphanet_79146

has related synonym

FPH1

hyperpigmentation, familial progressive, 1

Fph

MONDO:0013648

Term relations

Subclass of:

hyperpigmentation of the skin