FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term KINSSHIP syndrome ID (Ontology) DOID:0112383 (Human Disease)
Definition A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2.
Also Known As "AFF3-related mesomelic dysplasia" ; "KINS" ; "Steichen-Gersdorf type mesomelic dysplasia"
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 Genes
 KINSSHIP syndrome       1
 for disease ribbon | KINSSHIP syndrome       1
 model of | KINSSHIP syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                KINSSHIP syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "AFF3-related mesomelic dysplasia" EXACT
    "KINS" EXACT OMO:0003012
    "Steichen-Gersdorf type mesomelic dysplasia" EXACT
Secondary IDs
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MIM:619297