Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/612964
http://purl.bioontology.org/ontology/OMIM/612964
Preferred Name

PREMATURE OVARIAN FAILURE 7
Synonyms
POF7
ADRENAL INSUFFICIENCY, NR5A1-RELATED
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
POF7
ADRENAL INSUFFICIENCY, NR5A1-RELATED
prefLabel
PREMATURE OVARIAN FAILURE 7
Gene Symbol
SRXX4
SF1
SRXY3
FTZ1
POF7
AD4BP
SPGF8
NR5A1
FTZF1
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Scope Statement
Familial cases may have affected 46,XY family members who exhibit sex reversal (see SRXY3, 612965) [MISCELLANEOUS]
Caused by mutation in the nuclear receptor subfamily 5, group A, member-1 gene (NR5A1, 184757.0011) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU019320
http://purl.bioontology.org/ontology/OMIM/MTHU013768
http://purl.bioontology.org/ontology/OMIM/MTHU050419
http://purl.bioontology.org/ontology/OMIM/MTHU051728
http://purl.bioontology.org/ontology/OMIM/MTHU050418
http://purl.bioontology.org/ontology/OMIM/MTHU068955
http://purl.bioontology.org/ontology/OMIM/MTHU037936
http://purl.bioontology.org/ontology/OMIM/MTHU050437
http://purl.bioontology.org/ontology/OMIM/MTHU037486
http://purl.bioontology.org/ontology/OMIM/MTHU050434
http://purl.bioontology.org/ontology/OMIM/MTHU014107
http://purl.bioontology.org/ontology/OMIM/MTHU007204
http://purl.bioontology.org/ontology/OMIM/MTHU050436
http://purl.bioontology.org/ontology/OMIM/MTHU037476
http://purl.bioontology.org/ontology/OMIM/MTHU050435
http://purl.bioontology.org/ontology/OMIM/MTHU036761
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tui
T047
Gene Locus
9q33
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
612964
Semantic type UMLS property
Has inheritance type
cui
C4479664
C2751825
OMIM Entry Type
3
OMIM MimType Value
pound
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