FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Keipert syndrome ID (Ontology) DOID:0111842 (Human Disease)
Definition A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
Also Known As "KPTS" ; "nasodigitoacoustic syndrome"
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 Genes
 Keipert syndrome       1
 for disease ribbon | Keipert syndrome       1
 model of | Keipert syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
disease                         |
 |__syndrome____________________|
                                Keipert syndrome  1 rec.
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Is a X-linked recessive disease
syndrome
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Synonyms
  • "KPTS" EXACT OMO:0003012
    "nasodigitoacoustic syndrome" EXACT
Secondary IDs
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GARD:267
MESH:C538337
MIM:301026
NCI:C186306
ORDO:2662
SNOMEDCT_US_2023_03_01:763774001
UMLS_CUI:C1850627