Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PREMATURE OVARIAN FAILURE 7
Synonyms

POF7

ADRENAL INSUFFICIENCY, NR5A1-RELATED
ID

http://purl.bioontology.org/ontology/OMIM/612964
altLabel

POF7

ADRENAL INSUFFICIENCY, NR5A1-RELATED
cui

C4479664

C2751825
Gene Locus

9q33
Gene Symbol

SRXX4

SF1

SRXY3

FTZ1

POF7

AD4BP

SPGF8

NR5A1

FTZF1
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612964
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PREMATURE OVARIAN FAILURE 7
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]
tui

T047
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