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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
otopalatodigital syndrome type 1
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Taybi syndrome; OPD syndrome 1; OPD1; oto-palato-d..
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Taybi syndrome; OPD syndrome 1; OPD1; oto-palato-digital syndrome type 1; otopalatodigital syndrome type I; OPD I syndrome
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An otopalatodigital syndrome spectrum disorder cha.. [+]
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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Frank-Ter Haar syndrome
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Ter Haar syndrome; autosomal recessive Melnick-Nee..
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Ter Haar syndrome; autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay
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An otopalatodigital syndrome spectrum disorder cha.. [+]
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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congenital nongoitrous hypothyroidism 7
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TRH resistance syndrome; central hypothyroidism du..
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TRH resistance syndrome; central hypothyroidism due to TRH receptor deficiency; CHNG7; resistance to thyrotropin-releasing hormone syndrome
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A congenital hypothyroidism characterized by norma.. [+]
A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1.
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nonphotosensitive trichothiodystrophy 5
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TTD5
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A nonphotosensitive trichothiodystrophy characteri.. [+]
A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
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photosensitive trichothiodystrophy 2
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TTD2
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A photosensitive trichothiodystrophy that has_mate.. [+]
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.
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nonphotosensitive trichothiodystrophy 7
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TTD7
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A nonphotosensitive trichothiodystrophy characteri.. [+]
A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3.
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photosensitive trichothiodystrophy 3
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trichothiodystrophy complementation group A; TTD3; ..
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TTD3; trichothiodystrophy complementation group A
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A photosensitive trichothiodystrophy that has_mate.. [+]
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.
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nonphotosensitive trichothiodystrophy 6
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TTD6
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A nonphotosensitive trichothiodystrophy that has_m.. [+]
A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.
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photosensitive trichothiodystrophy 1
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TTD1
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A photosensitive trichothiodystrophy that has_mate.. [+]
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
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Sabinas brittle hair syndrome
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trichothiodystrophy type B; brittle hair-mental de..
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trichothiodystrophy type B; brittle hair-mental deficiency syndrome
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A nonphotosensitive trichothiodystrophy characteri.. [+]
A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.
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X-linked thrombophilia due to factor IX defect
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THPH8
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A thrombophilia characterized by normal levels of .. [+]
A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.
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autosomal dominant thrombophilia due to protein S deficiency
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THPH5
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A protein S deficiency characterized by reduced se.. [+]
A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
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heparin cofactor II deficiency
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thrombophilia due to heparin cofactor II deficienc..
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thrombophilia due to heparin cofactor II deficiency; THPH10; HCF 2 deficiency; HCF II deficiency
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A thrombophilia characterized by increased risk of.. [+]
A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.
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autosomal recessive thrombophilia due to protein C deficiency
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THPH4; autosomal recessive PROC deficiency; autoso..
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THPH4; autosomal recessive PROC deficiency; autosomal recessive protein C deficiency
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A protein C deficiency characterized by typically .. [+]
A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.
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autosomal recessive thrombophilia due to protein S deficiency
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THPH6; autosomal recessive thrombophilia due to co..
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THPH6; autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency
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A protein S deficiency characterized by thrombosis.. [+]
A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
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autosomal dominant thrombophilia due to protein C deficiency
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THPH3; autosomal dominant PROC deficiency; autosom..
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THPH3; autosomal dominant PROC deficiency; autosomal dominant protein C deficiency
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A thrombophilia characterized by reduced serum lev.. [+]
A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.
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syndactyly-telecanthus-anogenital and renal malformations syndrome
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toe syndactyly, telecanthus, and anogenital and re..
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toe syndactyly, telecanthus, and anogenital and renal malformations; STAR syndrome; syndactyly with renal and anogenital malformations
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A syndrome characterized by toe syndactyly, teleca.. [+]
A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28.
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immunodeficiency 46
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TFRC-related combined immunodeficiency; CID due to..
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TFRC-related combined immunodeficiency; CID due to TFRC deficiency; combined immunodeficiency due to TFRC deficiency; IMD46
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A combined T cell and B cell immunodeficiency char.. [+]
A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.
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immunodeficiency 7
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TCR-alpha-beta-positive T-cell deficiency; IMD7; i..
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TCR-alpha-beta-positive T-cell deficiency; IMD7; immunodeficiency 7, TCR-alpha/beta deficient
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A T cell deficiency characterized by decreased or .. [+]
A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2.
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immunodeficiency 35
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TYK2 deficiency; tyrosine kinase 2 deficiency; aut..
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tyrosine kinase 2 deficiency; TYK2 deficiency; autosomal recessiv HIES with atypical mycobacteriosis; autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis; IMD35; susceptibility to infection due to TYK2 deficiency
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.
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X-Linked immunodeficiency 74
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TLR7 deficiency; IMD74; respiratory insufficiency ..
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TLR7 deficiency; IMD74; respiratory insufficiency due to SARS-CoV-2 viral infection; X-linked immunodeficiency 74,COVID-19-related
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A T cell deficiency characterized by severe respir.. [+]
A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2.
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mismatch repair cancer syndrome
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Turcot syndrome; brain tumor-polyposis syndrome 1; ..
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Turcot syndrome; brain tumor-polyposis syndrome 1; BTP1 syndrome; BTPS1; childhood cancer syndrome; CMMR-D syndrome; CMMRDS; constitutional mismatch repair deficiency syndrome; MMR deficiency
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A syndrome characterized by predisposition for dev.. [+]
A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.
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Filippi syndrome
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type 1 syndactyly-microcephaly-intellectual disabi..
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type 1 syndactyly-microcephaly-intellectual disability syndrome; Scott craniodigital syndrome with mental retardation
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A syndrome characterized by short stature, microce.. [+]
A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1.
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BH4-deficient hyperphenylalaninemia B
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tetrahydrobiopterin-deficient hyperphenylalaninemi..
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tetrahydrobiopterin-deficient hyperphenylalaninemia B; GTP cyclohydrolase 1 deficiency; HPABH4B
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla.. [+]
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2.
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spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
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Tattoo dysplasia; Fantasy Island syndrome; SED-bra..
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Tattoo dysplasia; Fantasy Island syndrome; SED-brachydactyly and distinctive speech; spondyloepiphyseal dysplasia, Cantu type; SED-BDS
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A spondyloepiphyseal dysplasia characterized by sp.. [+]
A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
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