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Term:Frank-Ter Haar syndrome
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Accession:DOID:0111789 term browser browse the term
Definition:An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1. (DO)
Synonyms:exact_synonym: BORRONE DERMATOCARDIOSKELETAL SYNDROME;   Borrone Di Rocco Crovato Syndrome;   FTHS;   Melnick-Needles syndrome, autosomal recessive;   Ter Haar Syndrome;   megalocornea, multiple skeletal anomalies, and developmental delay
 primary_id: MESH:C537274
 alt_id: DOID:9001659;   MESH:C536577;   OMIM:249420
 xref: GARD:5138;   ORDO:137834
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Frank-Ter Haar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:7240710

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Path 1
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  disease 15992
    syndrome 6097
      Frank-Ter Haar syndrome 1
Path 2
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  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        Congenital Abnormalities 4465
          Musculoskeletal Abnormalities 1496
            Congenital Limb Deformities 420
              Congenital Upper Extremity Deformities 84
                Congenital Hand Deformities 69
                  otopalatodigital syndrome spectrum disorder 4
                    Frank-Ter Haar syndrome 1
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