FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term trichorhinophalangeal syndrome type III ID (Ontology) DOID:0080376 (Human Disease)
Definition A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.
Also Known As "trichorhinophalangeal syndrome type 3"
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 Genes
 trichorhinophalangeal syndrome type III       1
 for disease ribbon | trichorhinophalangeal syndrome type III       1
 model of | trichorhinophalangeal syndrome type III       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                trichorhinophalangeal syndrome type III  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "trichorhinophalangeal syndrome type 3" EXACT
Secondary IDs
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MIM:190351
ORDO:77258