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Qu'est-ce (qui) est hypoplasia cutis congenita - définition
ADRENAL CORTICAL HYPOFUNCTION THAT IS CHARACTERIZED BY A REDUCTION IN ADRENAL GLAND FUNCTION RESULTING FROM INCOMPLETE DEVELOPMENT OF THE ADRENAL CORTEX AND HAS MATERIAL BASIS IN THE NUCLEAR RECEPTOR NR0B1 (DAX1) GENE
Adrenal hypoplasia congenita; Congenital adrenal hypoplasia; X-linked AHC; Adrenal hypoplasia; Adrenal hypoplasia congenital, X-linked
X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita is a genetic disorder that mainly affects males. It involves many endocrine tissues in the body, especially the adrenal glands.
Macular hypoplasia
MEDICAL CONDITION
Fovea hypoplasia; Foveal hypoplasia-presenile cataract syndrome; O Donnell Pappas syndrome; O'Donnell-Pappas syndrome
Macular hypoplasia (or foveal hypoplasia), is a rare medical condition involving the underdevelopment of the macula, a small area on the retina (the eye's internal surface) responsible for seeing in detail. Macular hypoplasia is often associated with albinism.
Pachyonychia congenita
RARE GROUP OF AUTOSOMAL DOMINANT SKIN DISORDERS THAT ARE CAUSED BY A MUTATION IN ONE OF FIVE DIFFERENT KERATIN GENES
Pachyonychia; Pachyonychia congenita type I; Pachyonychia congenital type I; Jadassohn-Lewandown-Sky syndrome; Pachyonychia congenita type II; Jackson-Lawler pachyonychia congenita; Jackson-Sertoli syndrome; Jackson-Lawler type pachyonychia congenita; Jadassohn–Lewandowsky syndrome; Jackson–Lawler pachyonychia congenita; Jackson–Sertoli syndrome; Jadassohn-Lewandowsky syndrome; Pachyonychia congenita type III; Schafer-Brunauer syndrome; Jackson-Lawler syndrome; Jadasssohn-Lewandowsky syndrome; Jadassohn Lewandowsky syndrome; Pachyonychia congenita Jackson Lawler type; Pachyonychia congenita Jackson–Lawler type; Pachyonychia congenita Jackson-Lawler type; Pachyonychia congenita type 1; Pachyonychia congenita type 2
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
Wikipédia
X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita is a genetic disorder that mainly affects males. It involves many endocrine tissues in the body, especially the adrenal glands.
