Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620155
http://purl.bioontology.org/ontology/OMIM/620155
Preferred Name

RABIN-PAPPAS SYNDROME
Synonyms
RAPAS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
RAPAS
prefLabel
RABIN-PAPPAS SYNDROME
Gene Symbol
HYPB
SET2
MRD70
LLS
HBP231
RAPAS
SETD2
KIAA1732
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Scope Statement
Onset at birth [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the SET domain-containing protein 2 gene (SETD2, 612778.0005) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU076392
http://purl.bioontology.org/ontology/OMIM/MTHU007485
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU040063
http://purl.bioontology.org/ontology/OMIM/MTHU004212
http://purl.bioontology.org/ontology/OMIM/MTHU000607
http://purl.bioontology.org/ontology/OMIM/MTHU006809
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU007919
http://purl.bioontology.org/ontology/OMIM/MTHU002205
http://purl.bioontology.org/ontology/OMIM/MTHU062819
http://purl.bioontology.org/ontology/OMIM/MTHU005636
http://purl.bioontology.org/ontology/OMIM/MTHU005719
http://purl.bioontology.org/ontology/OMIM/MTHU034206
http://purl.bioontology.org/ontology/OMIM/MTHU076387
http://purl.bioontology.org/ontology/OMIM/MTHU038284
http://purl.bioontology.org/ontology/OMIM/MTHU076389
http://purl.bioontology.org/ontology/OMIM/MTHU008211
http://purl.bioontology.org/ontology/OMIM/MTHU076391
http://purl.bioontology.org/ontology/OMIM/MTHU031791
http://purl.bioontology.org/ontology/OMIM/MTHU076388
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU013668
http://purl.bioontology.org/ontology/OMIM/MTHU036924
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU004508
http://purl.bioontology.org/ontology/OMIM/MTHU004166
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU004804
http://purl.bioontology.org/ontology/OMIM/MTHU036424
http://purl.bioontology.org/ontology/OMIM/MTHU041452
http://purl.bioontology.org/ontology/OMIM/MTHU036398
http://purl.bioontology.org/ontology/OMIM/MTHU003112
http://purl.bioontology.org/ontology/OMIM/MTHU062534
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU076393
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU000164
http://purl.bioontology.org/ontology/OMIM/MTHU049263
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU012129
http://purl.bioontology.org/ontology/OMIM/MTHU036345
http://purl.bioontology.org/ontology/OMIM/MTHU005671
http://purl.bioontology.org/ontology/OMIM/MTHU056744
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU000709
http://purl.bioontology.org/ontology/OMIM/MTHU076390
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU003747
http://purl.bioontology.org/ontology/OMIM/MTHU000264
http://purl.bioontology.org/ontology/OMIM/MTHU000257
http://purl.bioontology.org/ontology/OMIM/MTHU000189
http://purl.bioontology.org/ontology/OMIM/MTHU037031
http://purl.bioontology.org/ontology/OMIM/MTHU011174
http://purl.bioontology.org/ontology/OMIM/MTHU001677
http://purl.bioontology.org/ontology/OMIM/MTHU001056
http://purl.bioontology.org/ontology/OMIM/MTHU005772
http://purl.bioontology.org/ontology/OMIM/MTHU036356
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
3p21.3-p21.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620155
Semantic type UMLS property
Has inheritance type
cui
C5774269
OMIM Entry Type
3
OMIM MimType Value
pound
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