Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Synonyms

DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/613571

altLabel

DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

cui

C1860042

Gene Locus

7q11.2

Gene Symbol

POR

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

613571

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

tui

T047

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http://purl.bioontology.org/ontology/MESH/D054882 Medical Subject Headings CUI