Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/608518
http://purl.bioontology.org/ontology/OMIM/608518
Preferred Name

OROFACIODIGITAL SYNDROME VII
Synonyms
OFDS VII
ORAL-FACIAL-DIGITAL SYNDROME, TYPE VII
WHELAN SYNDROME
OFD7
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OFDS VII
ORAL-FACIAL-DIGITAL SYNDROME, TYPE VII
WHELAN SYNDROME
OFD7
prefLabel
OROFACIODIGITAL SYNDROME VII
Scope Statement
Based on descriptions of a 3-generation family [MISCELLANEOUS]
Onset of cystic kidneys in adulthood [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU077499
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU002079
http://purl.bioontology.org/ontology/OMIM/MTHU000848
http://purl.bioontology.org/ontology/OMIM/MTHU000365
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU029212
http://purl.bioontology.org/ontology/OMIM/MTHU077496
http://purl.bioontology.org/ontology/OMIM/MTHU077494
http://purl.bioontology.org/ontology/OMIM/MTHU067377
http://purl.bioontology.org/ontology/OMIM/MTHU077495
http://purl.bioontology.org/ontology/OMIM/MTHU077498
http://purl.bioontology.org/ontology/OMIM/MTHU004146
http://purl.bioontology.org/ontology/OMIM/MTHU000574
http://purl.bioontology.org/ontology/OMIM/MTHU005771
http://purl.bioontology.org/ontology/OMIM/MTHU077497
http://purl.bioontology.org/ontology/OMIM/MTHU077500
See more
See less
tui
T047
MIMTYPEMEANING
Other, mainly phenotypes with suspected mendelian basis
notation
608518
Semantic type UMLS property
Has inheritance type
cui
C0796100
OMIM Entry Type
0
OMIM MimType Value
none
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display