Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/133705 http://purl.bioontology.org/ontology/OMIM/133705
Preferred Name	EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
Synonyms	RASMUSSEN SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RASMUSSEN SYNDROME
prefLabel	EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
notation	133705
Scope Statement	Based on reports of one family and one patient (last curated December 2015) [MISCELLANEOUS]
OMIM MimType Value	none
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	0
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048480 http://purl.bioontology.org/ontology/OMIM/MTHU048479 http://purl.bioontology.org/ontology/OMIM/MTHU048476 http://purl.bioontology.org/ontology/OMIM/MTHU036370 http://purl.bioontology.org/ontology/OMIM/MTHU048473 http://purl.bioontology.org/ontology/OMIM/MTHU001184 http://purl.bioontology.org/ontology/OMIM/MTHU048477 http://purl.bioontology.org/ontology/OMIM/MTHU001429 http://purl.bioontology.org/ontology/OMIM/MTHU022923 http://purl.bioontology.org/ontology/OMIM/MTHU048478 http://purl.bioontology.org/ontology/OMIM/MTHU019236 http://purl.bioontology.org/ontology/OMIM/MTHU002185 http://purl.bioontology.org/ontology/OMIM/MTHU048474 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
MIMTYPEMEANING	Other, mainly phenotypes with suspected mendelian basis
tui	T047
cui	C1876181

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