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Disease	Synonyms	Description
nonphotosensitive trichothiodystrophy 5	TTD5	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. [-]
photosensitive trichothiodystrophy 2	TTD2	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. [-]
nonphotosensitive trichothiodystrophy 7	TTD7	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. [-]
photosensitive trichothiodystrophy 3	trichothiodystrophy complementation group A; TTD3; .. [+] TTD3; trichothiodystrophy complementation group A [-]	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. [-]
nonphotosensitive trichothiodystrophy 6	TTD6	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. [-]
photosensitive trichothiodystrophy 1	TTD1	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. [-]
Sabinas brittle hair syndrome	trichothiodystrophy type B; brittle hair-mental de.. [+] trichothiodystrophy type B; brittle hair-mental deficiency syndrome [-]	A nonphotosensitive trichothiodystrophy characteri..[+] A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. [-]
X-linked thrombophilia due to factor IX defect	THPH8	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. [-]
autosomal dominant thrombophilia due to protein S deficiency	THPH5	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. [-]
heparin cofactor II deficiency	thrombophilia due to heparin cofactor II deficienc.. [+] thrombophilia due to heparin cofactor II deficiency; THPH10; HCF 2 deficiency; HCF II deficiency [-]	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. [-]
autosomal recessive thrombophilia due to protein C deficiency	THPH4; autosomal recessive PROC deficiency; autoso.. [+] THPH4; autosomal recessive PROC deficiency; autosomal recessive protein C deficiency [-]	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. [-]
autosomal recessive thrombophilia due to protein S deficiency	THPH6; autosomal recessive thrombophilia due to co.. [+] THPH6; autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency [-]	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. [-]
autosomal dominant thrombophilia due to protein C deficiency	THPH3; autosomal dominant PROC deficiency; autosom.. [+] THPH3; autosomal dominant PROC deficiency; autosomal dominant protein C deficiency [-]	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. [-]
syndactyly-telecanthus-anogenital and renal malformations syndrome	toe syndactyly, telecanthus, and anogenital and re.. [+] toe syndactyly, telecanthus, and anogenital and renal malformations; STAR syndrome; syndactyly with renal and anogenital malformations [-]	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. [-]
immunodeficiency 46	TFRC-related combined immunodeficiency; CID due to.. [+] TFRC-related combined immunodeficiency; CID due to TFRC deficiency; combined immunodeficiency due to TFRC deficiency; IMD46 [-]	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. [-]
immunodeficiency 7	TCR-alpha-beta-positive T-cell deficiency; IMD7; i.. [+] TCR-alpha-beta-positive T-cell deficiency; IMD7; immunodeficiency 7, TCR-alpha/beta deficient [-]	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. [-]
immunodeficiency 35	TYK2 deficiency; tyrosine kinase 2 deficiency; aut.. [+] 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 [-]	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. [-]
X-Linked immunodeficiency 74	TLR7 deficiency; IMD74; respiratory insufficiency .. [+] TLR7 deficiency; IMD74; respiratory insufficiency due to SARS-CoV-2 viral infection; X-linked immunodeficiency 74,COVID-19-related [-]	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. [-]
mismatch repair cancer syndrome	Turcot syndrome; brain tumor-polyposis syndrome 1; .. [+] Turcot syndrome; brain tumor-polyposis syndrome 1; BTP1 syndrome; BTPS1; childhood cancer syndrome; CMMR-D syndrome; CMMRDS; constitutional mismatch repair deficiency syndrome; MMR deficiency [-]	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. [-]
Filippi syndrome	type 1 syndactyly-microcephaly-intellectual disabi.. [+] type 1 syndactyly-microcephaly-intellectual disability syndrome; Scott craniodigital syndrome with mental retardation [-]	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. [-]
BH4-deficient hyperphenylalaninemia B	tetrahydrobiopterin-deficient hyperphenylalaninemi.. [+] tetrahydrobiopterin-deficient hyperphenylalaninemia B; GTP cyclohydrolase 1 deficiency; HPABH4B [-]	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. [-]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	Tattoo dysplasia; Fantasy Island syndrome; SED-bra.. [+] Tattoo dysplasia; Fantasy Island syndrome; SED-brachydactyly and distinctive speech; spondyloepiphyseal dysplasia, Cantu type; SED-BDS [-]	A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. [-]

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