| Disease ID | Source | Name | Description |
| 209500 | OMIM | Atrichia with papular lesions (APL) | An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. The disease is caused by variants affecting the gene represented in this entry. |
| 146550 | OMIM | Hypotrichosis 4 (HYPT4) | An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. The disease is caused by variants affecting the gene represented in this entry. |
| 203655 | OMIM | Alopecia universalis congenita (ALUNC) | A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy. The disease is caused by variants affecting the gene represented in this entry. |