Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620996 http://purl.bioontology.org/ontology/OMIM/620996
Preferred Name	RETINITIS PIGMENTOSA 98
Synonyms	RP98
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP98
prefLabel	RETINITIS PIGMENTOSA 98
Gene Symbol	TMEM216 MKS2 RP98 CORS2 JBTS2
Scope Statement	Caused by mutation in the transmembrane protein-216 gene (TMEM216, 613277.0005) [MOLECULAR BASIS] Onset of symptoms in the first decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079259 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU031512 http://purl.bioontology.org/ontology/OMIM/MTHU079262 http://purl.bioontology.org/ontology/OMIM/MTHU079263 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU079261 http://purl.bioontology.org/ontology/OMIM/MTHU079260 http://purl.bioontology.org/ontology/OMIM/MTHU079258 See more See less
tui	T047
Gene Locus	11q12.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620996
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5975495
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display