Search Ontology:
Human Disease
trichorhinophalangeal syndrome type I
- Term ID
- DOID:14743
- Synonyms
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- Trichorhinophalangeal dysplasia type I
- 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). (3)
- References
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- MESH:C536820
- MIM:190350
- NCI:C75109
- ORDO:77258
- SNOMEDCT_US_2023_03_01:239016009
- UMLS_CUI:C0432233
- Ontology
- Human Disease ( DOID:14743 )
- is a type of
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