Disease #01630 (adrenal hyperplasia (adrenal hyperplasia, steroid 11-beta-monooxygenase deficiency), OMIM:202010)

Official abbreviation adrenal hyperplasia
Name adrenal hyperplasia, steroid 11-beta-monooxygenase deficiency
OMIM ID 202010
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene CYP11B1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-10-31 12:57:06 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00465867 - - - M - Greece - - - - - adrenal hyperplasia - CYP11B1 CYP11B1 1 1 Irene (Eirini) Fylaktou
00467810 patient PubMed: Janot 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Algeria - - - - - adrenal hyperplasia see paper; ..., differences of sex development; 3y-genitalia Prader stage 4,3.5 cm genital bud, no palpable gonads, single perineal orifice CYP11B1 CYP11B1 2 1 Johan den Dunnen
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