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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Rombo syndrome
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Accession:EFO:MONDO:0008390 term browser browse the term
Definition:Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
Synonyms:exact_synonym: Orphanet:3110;   http://identifiers.org/medgen/356704;   http://identifiers.org/mesh/C535870;   http://identifiers.org/snomedct/721904001;   http://linkedlifedata.com/resource/umls/id/C1867147;   https://omim.org/entry/180730
 related_synonym: vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis
 alt_id: MONDO:0008390
 xref: GARD:4738;   MEDGEN:356704;   MESH:C535870;   MIM:180730;   ORDO:3110;   SCTID:721904001;   UMLS:C1867147
 see_also: https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome" xsd:anyURI {source="GARD:0004738


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            Rombo syndrome 0
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