Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/201170
http://purl.bioontology.org/ontology/OMIM/201170
Preferred Name

ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ
Synonyms
RODRIGUEZ LETHAL ACROFACIAL DYSOSTOSIS SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
RODRIGUEZ LETHAL ACROFACIAL DYSOSTOSIS SYNDROME
prefLabel
ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU031591
http://purl.bioontology.org/ontology/OMIM/MTHU007225
http://purl.bioontology.org/ontology/OMIM/MTHU031586
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU017295
http://purl.bioontology.org/ontology/OMIM/MTHU002310
http://purl.bioontology.org/ontology/OMIM/MTHU031592
http://purl.bioontology.org/ontology/OMIM/MTHU036377
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU002155
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU031587
http://purl.bioontology.org/ontology/OMIM/MTHU002677
http://purl.bioontology.org/ontology/OMIM/MTHU031581
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU015388
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU031590
http://purl.bioontology.org/ontology/OMIM/MTHU031583
http://purl.bioontology.org/ontology/OMIM/MTHU031580
http://purl.bioontology.org/ontology/OMIM/MTHU031589
http://purl.bioontology.org/ontology/OMIM/MTHU005818
http://purl.bioontology.org/ontology/OMIM/MTHU045299
http://purl.bioontology.org/ontology/OMIM/MTHU016545
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU031594
http://purl.bioontology.org/ontology/OMIM/MTHU023746
http://purl.bioontology.org/ontology/OMIM/MTHU031585
http://purl.bioontology.org/ontology/OMIM/MTHU017293
http://purl.bioontology.org/ontology/OMIM/MTHU031588
http://purl.bioontology.org/ontology/OMIM/MTHU005516
http://purl.bioontology.org/ontology/OMIM/MTHU014757
http://purl.bioontology.org/ontology/OMIM/MTHU018452
http://purl.bioontology.org/ontology/OMIM/MTHU031593
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tui
T047
MIMTYPEMEANING
Mendelian phenotype or locus, molecular basis unknown.
notation
201170
Semantic type UMLS property
Has inheritance type
cui
C1860119
OMIM Entry Type
5
OMIM MimType Value
perc
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