| Disease ID | Source | Name | Description |
| 613981 | OMIM | Hypotrichosis 3 (HYPT3) | A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 194300 | OMIM | Woolly hair autosomal dominant (ADWH) | A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. The disease is caused by variants affecting the gene represented in this entry. |
| 614929 | OMIM | Ectodermal dysplasia 7, hair/nail type (ECTD7) | A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. The disease is caused by variants affecting the gene represented in this entry. |