Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618371
http://purl.bioontology.org/ontology/OMIM/618371
Preferred Name

TURNPENNY-FRY SYNDROME
Synonyms
NEUROCARDIOSKELETAL SYNDROME
TPFS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEUROCARDIOSKELETAL SYNDROME
TPFS
prefLabel
TURNPENNY-FRY SYNDROME
Gene Symbol
RNF110
TPFS
ZNF144
MEL18
PCGF2
Scope Statement
Variable features [MISCELLANEOUS]
Caused by mutation in the polycomb group ring finger protein 2 gene (PCGF2, 600346.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU017295
http://purl.bioontology.org/ontology/OMIM/MTHU001150
http://purl.bioontology.org/ontology/OMIM/MTHU064421
http://purl.bioontology.org/ontology/OMIM/MTHU059819
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU031256
http://purl.bioontology.org/ontology/OMIM/MTHU000191
http://purl.bioontology.org/ontology/OMIM/MTHU001954
http://purl.bioontology.org/ontology/OMIM/MTHU064409
http://purl.bioontology.org/ontology/OMIM/MTHU022149
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU013848
http://purl.bioontology.org/ontology/OMIM/MTHU000506
http://purl.bioontology.org/ontology/OMIM/MTHU045720
http://purl.bioontology.org/ontology/OMIM/MTHU021973
http://purl.bioontology.org/ontology/OMIM/MTHU012453
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU064416
http://purl.bioontology.org/ontology/OMIM/MTHU004626
http://purl.bioontology.org/ontology/OMIM/MTHU001467
http://purl.bioontology.org/ontology/OMIM/MTHU064420
http://purl.bioontology.org/ontology/OMIM/MTHU064410
http://purl.bioontology.org/ontology/OMIM/MTHU061012
http://purl.bioontology.org/ontology/OMIM/MTHU063876
http://purl.bioontology.org/ontology/OMIM/MTHU007337
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU064432
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU070670
http://purl.bioontology.org/ontology/OMIM/MTHU006054
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU064407
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU003865
http://purl.bioontology.org/ontology/OMIM/MTHU001106
http://purl.bioontology.org/ontology/OMIM/MTHU000560
http://purl.bioontology.org/ontology/OMIM/MTHU001789
http://purl.bioontology.org/ontology/OMIM/MTHU009974
http://purl.bioontology.org/ontology/OMIM/MTHU064413
http://purl.bioontology.org/ontology/OMIM/MTHU001511
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU037442
http://purl.bioontology.org/ontology/OMIM/MTHU002917
http://purl.bioontology.org/ontology/OMIM/MTHU005751
http://purl.bioontology.org/ontology/OMIM/MTHU064408
http://purl.bioontology.org/ontology/OMIM/MTHU002784
http://purl.bioontology.org/ontology/OMIM/MTHU000921
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU007616
http://purl.bioontology.org/ontology/OMIM/MTHU043125
http://purl.bioontology.org/ontology/OMIM/MTHU048048
http://purl.bioontology.org/ontology/OMIM/MTHU003736
http://purl.bioontology.org/ontology/OMIM/MTHU002016
http://purl.bioontology.org/ontology/OMIM/MTHU064426
http://purl.bioontology.org/ontology/OMIM/MTHU064428
http://purl.bioontology.org/ontology/OMIM/MTHU038278
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU005340
http://purl.bioontology.org/ontology/OMIM/MTHU007909
http://purl.bioontology.org/ontology/OMIM/MTHU000335
http://purl.bioontology.org/ontology/OMIM/MTHU064427
http://purl.bioontology.org/ontology/OMIM/MTHU000074
http://purl.bioontology.org/ontology/OMIM/MTHU000710
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU064412
http://purl.bioontology.org/ontology/OMIM/MTHU064434
http://purl.bioontology.org/ontology/OMIM/MTHU036375
http://purl.bioontology.org/ontology/OMIM/MTHU064406
http://purl.bioontology.org/ontology/OMIM/MTHU001753
http://purl.bioontology.org/ontology/OMIM/MTHU064431
http://purl.bioontology.org/ontology/OMIM/MTHU064418
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU037262
http://purl.bioontology.org/ontology/OMIM/MTHU064424
http://purl.bioontology.org/ontology/OMIM/MTHU020513
http://purl.bioontology.org/ontology/OMIM/MTHU007266
http://purl.bioontology.org/ontology/OMIM/MTHU036923
http://purl.bioontology.org/ontology/OMIM/MTHU036821
http://purl.bioontology.org/ontology/OMIM/MTHU001468
http://purl.bioontology.org/ontology/OMIM/MTHU064414
http://purl.bioontology.org/ontology/OMIM/MTHU002391
http://purl.bioontology.org/ontology/OMIM/MTHU064411
http://purl.bioontology.org/ontology/OMIM/MTHU070669
http://purl.bioontology.org/ontology/OMIM/MTHU004222
http://purl.bioontology.org/ontology/OMIM/MTHU064419
http://purl.bioontology.org/ontology/OMIM/MTHU049299
http://purl.bioontology.org/ontology/OMIM/MTHU064435
http://purl.bioontology.org/ontology/OMIM/MTHU004645
http://purl.bioontology.org/ontology/OMIM/MTHU011786
http://purl.bioontology.org/ontology/OMIM/MTHU064425
http://purl.bioontology.org/ontology/OMIM/MTHU064415
http://purl.bioontology.org/ontology/OMIM/MTHU064433
http://purl.bioontology.org/ontology/OMIM/MTHU064405
See more
See less
tui
T047
Gene Locus
17q12
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618371
Semantic type UMLS property
Has inheritance type
cui
C5193060
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display