Online Mendelian Inheritance in Man - FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618278 http://purl.bioontology.org/ontology/OMIM/618278
Preferred Name	FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
Synonyms	FINCA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FINCA
prefLabel	FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
Gene Symbol	NHLRC2 FINCA
Scope Statement	Caused by mutation in the NHL repeat-containing protein 2 gene (NHLRC2, 618277.0001) [MOLECULAR BASIS] Death in second year of life due to respiratory failure [MISCELLANEOUS] Onset of symptoms at 2 months of age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU064080 http://purl.bioontology.org/ontology/OMIM/MTHU042604 http://purl.bioontology.org/ontology/OMIM/MTHU064082 http://purl.bioontology.org/ontology/OMIM/MTHU004041 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU064092 http://purl.bioontology.org/ontology/OMIM/MTHU039191 http://purl.bioontology.org/ontology/OMIM/MTHU009750 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU064095 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU064098 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU036393 http://purl.bioontology.org/ontology/OMIM/MTHU064088 http://purl.bioontology.org/ontology/OMIM/MTHU005728 http://purl.bioontology.org/ontology/OMIM/MTHU064078 http://purl.bioontology.org/ontology/OMIM/MTHU016218 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU009866 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU008446 http://purl.bioontology.org/ontology/OMIM/MTHU064097 http://purl.bioontology.org/ontology/OMIM/MTHU064093 http://purl.bioontology.org/ontology/OMIM/MTHU021580 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU060446 http://purl.bioontology.org/ontology/OMIM/MTHU073911 http://purl.bioontology.org/ontology/OMIM/MTHU037816 http://purl.bioontology.org/ontology/OMIM/MTHU064086 http://purl.bioontology.org/ontology/OMIM/MTHU064089 http://purl.bioontology.org/ontology/OMIM/MTHU064083 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU064096 http://purl.bioontology.org/ontology/OMIM/MTHU064085 http://purl.bioontology.org/ontology/OMIM/MTHU037815 http://purl.bioontology.org/ontology/OMIM/MTHU009073 http://purl.bioontology.org/ontology/OMIM/MTHU064077 http://purl.bioontology.org/ontology/OMIM/MTHU064094 http://purl.bioontology.org/ontology/OMIM/MTHU064091 http://purl.bioontology.org/ontology/OMIM/MTHU064079 http://purl.bioontology.org/ontology/OMIM/MTHU004222 http://purl.bioontology.org/ontology/OMIM/MTHU064090 http://purl.bioontology.org/ontology/OMIM/MTHU026298 http://purl.bioontology.org/ontology/OMIM/MTHU037872 http://purl.bioontology.org/ontology/OMIM/MTHU064084 http://purl.bioontology.org/ontology/OMIM/MTHU025803 http://purl.bioontology.org/ontology/OMIM/MTHU002640 http://purl.bioontology.org/ontology/OMIM/MTHU038101 http://purl.bioontology.org/ontology/OMIM/MTHU064081 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	10q25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618278
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4748939
OMIM Entry Type	3
OMIM MimType Value	pound

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