Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. [ Orphanet:1867 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:Q81.8 (Orphanet:1867)
  • Orphanet:1867 (OMIM:302000)
  • MESH:C563065 (MONDO:equivalentTo)
  • UMLS:C0795974 (Orphanet:1867)
  • OMIM:302000 (Orphanet:1867)
  • GARD:0001038 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
EBM [ GARD:0001038 ]

definition

Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.

exactMatch

http://www.orpha.net/ORDO/Orphanet_1867

http://identifiers.org/mesh/C563065

http://identifiers.org/omim/302000

http://linkedlifedata.com/resource/umls/id/C0795974

has related synonym

EBM

epidermolysis bullosa, macular type

bullous dystrophy, hereditary macular type

bullous dystrophy hereditary macular type

epidermolysis bullosa macular type

id

MONDO:0010540

seeAlso

https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type