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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
distal arthrogryposis type 7
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trismus-pseudocamptodactyly syndrome; DA7; Dutch-K..
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trismus-pseudocamptodactyly syndrome; DA7; Dutch-Kentucky syndrome; Hecht syndrome; Hecht-Beals syndrome; mouth, inability to completely open, and short finger-flexor tendons
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A distal arthrogryposis characterized by inability.. [+]
A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1.
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oculoectodermal syndrome
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Toriello-Lacassie-Droste syndrome; aplasia cutis c..
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Toriello-Lacassie-Droste syndrome; aplasia cutis congenita-epibulbar dermoids syndrome
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An ectodermal dysplasia characterized by epibulbar.. [+]
An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.
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oblique facial clefting 1
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Tessier number 4 facial cleft
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An orofacial cleft characterized by a congenital u.. [+]
An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23.
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X-linked thrombocytopenia with beta-thalassemia
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thrombocytopenia, platelet dysfunction, hemolysis,..
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thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; XLTT
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A hematopoietic system disease characterized by va.. [+]
A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.
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46,XY sex reversal 8
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TDD; male pseudohermaphroditism due to deficiency ..
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TDD; male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; SRXY8
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A 46 XY sex reversal characterized by an XY karyot.. [+]
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.
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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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