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otopalatodigital syndrome spectrum disorder
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DOID_0111782 |
[A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.] |
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dilated cardiomyopathy 1O
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DOID_0110451 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.] |
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TARP syndrome
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DOID_0111780 |
[A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3.] |
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dilated cardiomyopathy 1BB
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DOID_0110458 |
[A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1.] |
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Frank-Ter Haar syndrome
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DOID_0111789 |
[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 the SH3PXD2B gene on chromosome 5q35.1.] |
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dilated cardiomyopathy 1FF
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DOID_0110459 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.] |
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frontometaphyseal dysplasia 2
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DOID_0111787 |
[A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.] |
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frontometaphyseal dysplasia
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DOID_0111785 |
[An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.] |
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dilated cardiomyopathy 1R
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DOID_0110456 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.] |
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Melnick-Needles syndrome
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DOID_0111788 |
[An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.] |
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dilated cardiomyopathy 1Y
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DOID_0110457 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1.] |
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dilated cardiomyopathy 1S
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DOID_0110454 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.] |
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frontometaphyseal dysplasia 1
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DOID_0111786 |
[A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.] |
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dilated cardiomyopathy 1U
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DOID_0110455 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3.] |
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dilated cardiomyopathy 1T
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DOID_0110452 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22.] |
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otopalatodigital syndrome type 1
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DOID_0111783 |
[An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.] |
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dilated cardiomyopathy 1EE
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DOID_0110453 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2.] |
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otopalatodigital syndrome type 2
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DOID_0111784 |
[An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.] |
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Perrault syndrome 7
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DOID_0061073 |
[A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22.] |
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severe combined immunodeficiency 105
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DOID_0061074 |
[A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31.] |
