| Disease ID | Source | Name | Description |
| 207900 | OMIM | Argininosuccinic aciduria (ARGINSA) | An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. The disease is caused by variants affecting the gene represented in this entry. |