Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

46,XY SEX REVERSAL 3
Synonyms

46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED
ID

http://purl.bioontology.org/ontology/OMIM/612965
altLabel

46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED

SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE

SRXY3

DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED

46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE
cui

C3489793
Gene Locus

9q33
Gene Symbol

AD4BP

SPGF8

FTZF1

POF7

SF1

SRXY3

FTZ1

SRXX4

NR5A1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU050433

http://purl.bioontology.org/ontology/OMIM/MTHU050449

http://purl.bioontology.org/ontology/OMIM/MTHU050439

http://purl.bioontology.org/ontology/OMIM/MTHU045638

http://purl.bioontology.org/ontology/OMIM/MTHU050455

http://purl.bioontology.org/ontology/OMIM/MTHU050453

http://purl.bioontology.org/ontology/OMIM/MTHU050447

http://purl.bioontology.org/ontology/OMIM/MTHU050445

http://purl.bioontology.org/ontology/OMIM/MTHU050457

http://purl.bioontology.org/ontology/OMIM/MTHU050451

http://purl.bioontology.org/ontology/OMIM/MTHU050418

http://purl.bioontology.org/ontology/OMIM/MTHU050448

http://purl.bioontology.org/ontology/OMIM/MTHU050446

http://purl.bioontology.org/ontology/OMIM/MTHU050444

http://purl.bioontology.org/ontology/OMIM/MTHU050438

http://purl.bioontology.org/ontology/OMIM/MTHU005254

http://purl.bioontology.org/ontology/OMIM/MTHU050450

http://purl.bioontology.org/ontology/OMIM/MTHU050456

http://purl.bioontology.org/ontology/OMIM/MTHU050454

http://purl.bioontology.org/ontology/OMIM/MTHU050452

http://purl.bioontology.org/ontology/OMIM/MTHU032222

http://purl.bioontology.org/ontology/OMIM/MTHU050419
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612965
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

46,XY SEX REVERSAL 3
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D058490 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0111772 Human Disease Ontology 123 LOOM