Online Mendelian Inheritance in Man - ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
Synonyms	HANAC
ID	http://purl.bioontology.org/ontology/OMIM/611773
altLabel	HANAC
cui	C2673195
Gene Locus	13q34
Gene Symbol	RATOR COL4A1 BSVD POREN1 HANAC ICH
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU033889 http://purl.bioontology.org/ontology/OMIM/MTHU033879 http://purl.bioontology.org/ontology/OMIM/MTHU036828 http://purl.bioontology.org/ontology/OMIM/MTHU033884 http://purl.bioontology.org/ontology/OMIM/MTHU033894 http://purl.bioontology.org/ontology/OMIM/MTHU033892 http://purl.bioontology.org/ontology/OMIM/MTHU033882 http://purl.bioontology.org/ontology/OMIM/MTHU033880 http://purl.bioontology.org/ontology/OMIM/MTHU025938 http://purl.bioontology.org/ontology/OMIM/MTHU033890 http://purl.bioontology.org/ontology/OMIM/MTHU002773 http://purl.bioontology.org/ontology/OMIM/MTHU033886 http://purl.bioontology.org/ontology/OMIM/MTHU033878 http://purl.bioontology.org/ontology/OMIM/MTHU033885 http://purl.bioontology.org/ontology/OMIM/MTHU033883 http://purl.bioontology.org/ontology/OMIM/MTHU033888 http://purl.bioontology.org/ontology/OMIM/MTHU033881 http://purl.bioontology.org/ontology/OMIM/MTHU037127 http://purl.bioontology.org/ontology/OMIM/MTHU033891 http://purl.bioontology.org/ontology/OMIM/MTHU033895 http://purl.bioontology.org/ontology/OMIM/MTHU033893 http://purl.bioontology.org/ontology/OMIM/MTHU003124 http://purl.bioontology.org/ontology/OMIM/MTHU002507
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611773
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567088	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567088	Medical Subject Headings	LOOM