Online Mendelian Inheritance in Man - BRAIN MALFORMATION RENAL SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620943 http://purl.bioontology.org/ontology/OMIM/620943
Preferred Name	BRAIN MALFORMATION RENAL SYNDROME
Synonyms	BMRS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BMRS
prefLabel	BRAIN MALFORMATION RENAL SYNDROME
Gene Symbol	XTP7 EXOC3L2 BMRS
Scope Statement	Based on reports of one 13-year-old patient (patient A) and 5 fetuses (last curated September 2024) [MISCELLANEOUS] Caused by mutation in the exocyst complex component 3-like 2 gene (EXOC3L2, 616927.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU003988 http://purl.bioontology.org/ontology/OMIM/MTHU017686 http://purl.bioontology.org/ontology/OMIM/MTHU010162 http://purl.bioontology.org/ontology/OMIM/MTHU079170 http://purl.bioontology.org/ontology/OMIM/MTHU079171 http://purl.bioontology.org/ontology/OMIM/MTHU012746 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU001234 http://purl.bioontology.org/ontology/OMIM/MTHU038541 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU036917 http://purl.bioontology.org/ontology/OMIM/MTHU002578 http://purl.bioontology.org/ontology/OMIM/MTHU079172 http://purl.bioontology.org/ontology/OMIM/MTHU061547 http://purl.bioontology.org/ontology/OMIM/MTHU041644 http://purl.bioontology.org/ontology/OMIM/MTHU056149 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU036334 http://purl.bioontology.org/ontology/OMIM/MTHU009306 http://purl.bioontology.org/ontology/OMIM/MTHU011903 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU002378 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	19q13.32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620943
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5975390
OMIM Entry Type	3
OMIM MimType Value	pound

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