OMIM-Bio2RDF-r3 Find_IDs Find_Terms Annotation
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created at 2016-11-30 06:59:29 UTC
updated at 2016-11-30 09:55:54 UTC
OMIM in Bio2RDF r.3
53,354 entries
Label
Id
Absent or abnormal eyelids http://bio2rdf.org/omim_resource:19459e327624b6cae4c4734d811e923d
Absent fetal movements http://bio2rdf.org/omim_resource:50ed9e3b217b030a8bc88e887b7ed164
Abnormal urinary organic acids http://bio2rdf.org/omim_resource:8307f324ec4f363a07f7f451592ff7c1
Abnormal ocular motility http://bio2rdf.org/omim_resource:c3bcd8d7dff96667cc4d986135b68a20
Abnormal nose http://bio2rdf.org/omim_resource:103550daba81d16a1504d905c864ff1f
Abnormal mouth http://bio2rdf.org/omim_resource:dfc279027a4ab83cf4604e9c1d5eb742
Abnormal fatigue http://bio2rdf.org/omim_resource:1bb74184053e3ae9fc2d8881dec5b26b
ANALBUMINEMIA; ANALBA http://bio2rdf.org/omim:616000
ADAMS-OLIVER SYNDROME 5; AOS5 http://bio2rdf.org/omim:616028
75%) http://bio2rdf.org/omim_resource:fa2dde8e61cf44924807af67ae327b1d
46,XY SEX REVERSAL 9; SRXY9 http://bio2rdf.org/omim:616067
12% due to epimutation http://bio2rdf.org/omim_resource:0d62c5d2b130cd0b36457338a5b6a4df
10% due to paternal deletion http://bio2rdf.org/omim_resource:9c2bb3fff4ae482abda43e60a58bf7f7
phenotype mapping for 615996 http://bio2rdf.org/omim_resource:615996_pm_1
phenotype mapping for 615995 http://bio2rdf.org/omim_resource:615995_pm_1