List of articles in "Disease" category - Page 54

Haim–Munk syndrome (also known as Palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis) is a cutaneous condition caused by a mutation in the Cathepsin C gene. It was named after […]

Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as NISCH syndrome and Ichthyosis–sclerosing cholangitis syndrome) is a cutaneous condition caused by mutations in the Claudin 1 gene.

Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.It is also known as Congenital disorder of glycosylation 1m.

Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (also known as CEDNIK syndrome) is a cutaneous condition caused by mutation in the SNAP29 gene.

Arthrogryposis–renal dysfunction–cholestasis syndrome (also known as ARC syndrome) is a cutaneous condition caused by a mutation in the VPS33B gene.

Acute posthemorrhagic anemia or acute blood loss anemia is a condition in which a person quickly loses a large volume of circulating hemoglobin. Acute blood loss is usually associated with […]

Hystrix-like ichthyosis–deafness syndrome (also known as HID syndrome) is a cutaneous condition characterized by a keratoderma.

Bart–Pumphrey syndrome (also known as Palmoplantar keratoderma with knuckle pads and leukonychia and deafness) is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal and proximal and distal […]

Haber syndrome is a cutaneous disorder of hyperpigmentation characterized by reticulated pigmentation of the person’s skin. A rare genodermatosis its key features include rosacea-like facial eruption[] reticulated hyperpigmentation of major […]

Miller syndrome is a condition that is also known as the Genee-Wiedemann syndrome Wildervanck-Smith syndrome or postaxial acrofacial dystosis (POADS). The incidence of this condition is not known but it […]