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trichorhinophalangeal syndrome type I
Summary
- Synonym
-
- trichorhinophalangeal syndrome type 1
- type I trichorhinophalangeal syndrome
- Definition
- A syndrome 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).
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:14743
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
