| Disease ID | Source | Name | Description |
| 615425 | OMIM | Epidermolysis bullosa simplex, autosomal recessive 2 (EBSB2) | A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques. The disease is caused by variants affecting the gene represented in this entry. |
| 614653 | OMIM | Neuropathy, hereditary sensory and autonomic, 6 (HSAN6) | A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. The disease is caused by variants affecting the gene represented in this entry. |