Online Mendelian Inheritance in Man - ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/208085 http://purl.bioontology.org/ontology/OMIM/208085
Preferred Name	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Synonyms	BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY ARCS CHOLESTATIC JAUNDICE AND RENAL TUBULAR INSUFFICIENCY ARC SYNDROME ARCS1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY ARCS CHOLESTATIC JAUNDICE AND RENAL TUBULAR INSUFFICIENCY ARC SYNDROME ARCS1
prefLabel	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Gene Symbol	KDIDAR PFIC12 VPS33B
Scope Statement	Caused by mutation in the VPS33B late endosome and lysosome associated gene (VPS33B, 608552.0001) [MOLECULAR BASIS] Death in infancy, usually from sepsis, dehydration, or acidosis [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037613 http://purl.bioontology.org/ontology/OMIM/MTHU009985 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU026278 http://purl.bioontology.org/ontology/OMIM/MTHU066145 http://purl.bioontology.org/ontology/OMIM/MTHU026275 http://purl.bioontology.org/ontology/OMIM/MTHU005829 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU037256 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU026272 http://purl.bioontology.org/ontology/OMIM/MTHU067489 http://purl.bioontology.org/ontology/OMIM/MTHU067490 http://purl.bioontology.org/ontology/OMIM/MTHU026267 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU011044 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU036995 http://purl.bioontology.org/ontology/OMIM/MTHU006718 http://purl.bioontology.org/ontology/OMIM/MTHU026268 http://purl.bioontology.org/ontology/OMIM/MTHU075627 http://purl.bioontology.org/ontology/OMIM/MTHU000702 http://purl.bioontology.org/ontology/OMIM/MTHU067488 http://purl.bioontology.org/ontology/OMIM/MTHU026271 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU009469 http://purl.bioontology.org/ontology/OMIM/MTHU000090 http://purl.bioontology.org/ontology/OMIM/MTHU006717 http://purl.bioontology.org/ontology/OMIM/MTHU009867 http://purl.bioontology.org/ontology/OMIM/MTHU037255 http://purl.bioontology.org/ontology/OMIM/MTHU000661 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU036658 http://purl.bioontology.org/ontology/OMIM/MTHU036913 http://purl.bioontology.org/ontology/OMIM/MTHU058644 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU075626 http://purl.bioontology.org/ontology/OMIM/MTHU066549 http://purl.bioontology.org/ontology/OMIM/MTHU038007 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU026273 http://purl.bioontology.org/ontology/OMIM/MTHU026269 http://purl.bioontology.org/ontology/OMIM/MTHU011174 http://purl.bioontology.org/ontology/OMIM/MTHU036521 See more See less
tui	T047
Gene Locus	15q26.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	208085
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4551984 C1859722
Moved from	210550 301820
OMIM Entry Type	3
OMIM MimType Value	pound

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