FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Floating-Harbor syndrome ID (Ontology) DOID:0111358 (Human Disease)
Definition A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.
Also Known As "FLHS"
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 Genes
 Floating-Harbor syndrome       1
 for disease ribbon | Floating-Harbor syndrome       1
 model of | Floating-Harbor syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Floating-Harbor syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "FLHS" EXACT OMO:0003012
Secondary IDs
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GARD:6455
MESH:C537062
MIM:136140
NCI:C175241
ORDO:2044
SNOMEDCT_US_2023_03_01:205810007
UMLS_CUI:C0729582