trichorhinophalangeal syndrome type I (Q18553302)
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autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)
- type I trichorhinophalangeal syndrome
- Sugio-Kajii syndrome
- Trichorhinophalangeal dysplasia type I
- trichorhinophalangeal syndrome type 1
- trichorhinophalangeal syndrome I
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | trichorhinophalangeal syndrome type I |
autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly) |
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