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LAMA5-related multisystemic syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0033856

A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder. [ Orphanet:521450 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:22146 (MONDO:GARD)
  • Orphanet:521450 (MONDO:equivalentTo)
  • MEDGEN:1806009 (MONDO:equivalentTo)
  • UMLS:C5681442 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, rare, n_of_one, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_521450

http://linkedlifedata.com/resource/umls/id/C5681442

http://identifiers.org/medgen/1806009

id

MONDO:0033856

term tracker item

https://github.com/monarch-initiative/mondo/issues/3601