#genetic disorder
- Alagille-related — The feminine singular form of the neological adjective 'alagic'; relating to, originating from, or structurally associated with Alagille syndrome, a rare systemic genetic disorder characterized by the hypoplasia of interlobular bile ducts, cardiovascular malformations, skeletal anomalies (butterfly vertebrae), and distinct facial features. In clinical terminology, it describes a pathological manifestation, an organic impairment, or a specific cellular anomaly diagnosed within this hereditary syndromic complex governed by mutations in the JAG1 or NOTCH2 genes.
- Albinism — A congenital anomaly characterized by the total or partial absence of melanin pigment in the skin, hair, and eyes, causing a whitish appearance of the body and extreme sensitivity to solar radiation.
- Atrichia — Total or congenital absence of hair from the body, caused by a structural developmental anomaly of the hair follicles or by complex genetic factors. Unlike alopecia, which involves the subsequent loss of existing hair, this pathological phenomenon describes the state in which hair fails to develop at all during life.