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Disease	Synonyms	Description
congenital nongoitrous hypothryoidism 1	TSH resistance; CHNG1	A congenital hypothyroidism that has_material_basi..[+] A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. [-]
Y-linked spermatogenic failure 1	type I Sertoli cell-only syndrome; SPGFY1; Y-linke.. [+] type I Sertoli cell-only syndrome; SPGFY1; Y-linked Sertoli cell-only syndrome [-]	A Sertoli cell-only syndrome that has_material_bas..[+] A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. [-]
nonsyndromic congenital nail disorder 1	twenty-nail dystrophy	n_a
congenital fibrosis of the extraocular muscles	Tukel syndrome	An ocular motility disease that is characterized b..[+] An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. [-]
esophageal atresia/tracheoesophageal fistula	tracheoesophageal fistula with or without esohagea.. [+] tracheoesophageal fistula with or without esohageal atresia; esophageal atresia and/or tracheoesophageal fistula [-]	A gastrointestinal system disease that is characte..[+] A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. [-]
superior semicircular canal dehiscence	third mobile window syndrome; canal dehiscence syn.. [+] third mobile window syndrome; canal dehiscence syndrome; minorâ€™s syndrome; superior canal dehiscence; superior canal syndrome; superior semicircular canal dehiscence syndrome [-]	An inner ear disease characterized by dehiscence i..[+] An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. [-]
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	TMCO1 defect syndrome; Cerebro-facio-thoracic dysp.. [+] TMCO1 defect syndrome; Cerebro-facio-thoracic dysplasia; Cerebrofaciothoracic dysplasia; Pascual-Castroviejo syndrome [-]	A syndrome that is characterized by abnormal devel..[+] A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. [-]
Graves ophthalmopathy	thyroid eye disease; Thyroid associated ophthalmop.. [+] thyroid eye disease; Thyroid associated ophthalmopathy; Graves orbitopathy [-]	An autoimmune disease of eyes, ear, nose and throa..[+] An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. [-]
BH4-deficient hyperphenylalaninemia D	tetrahydrobiopterin (BH4)-deficient hyperphenylala.. [+] tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. [-]
autosomal dominant familial periodic fever	tumor necrosis factor receptor 1 associated period.. [+] tumor necrosis factor receptor 1 associated periodic syndrome; TNF receptor 1-associated periodic syndrome; familial hibernian fever [-]	A characterized by autosomal dominant inheritance ..[+] A characterized by autosomal dominant inheritance of recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
corticosteroid-binding globulin deficiency	transcortin deficiency; CBG deficiency	An adrenal gland disease characterized by decrease..[+] An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. [-]
Bh4-deficient hyperphenylalaninemia A	tetrahydobioperin-deficient hyperphenylalaninemia .. [+] tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; PTS deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material_basis_in mutation in the PTS gene on chromosome 11q23.1. [-]
cataract 44	total early-onset cataract; CTRCT44	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. [-]
hypotrichosis 7	total Mari type hypotrichosis,; hypotrichosis, loc.. [+] total Mari type hypotrichosis,; hypotrichosis, localized, autosomal recessive 2; Hypt7; Lah2 [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. [-]
brachydactyly type A4	Temtamy type brachydactyly; BDA4; brachymesophalan.. [+] Temtamy type brachydactyly; BDA4; brachymesophalangy II and V [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. [-]
hemochromatosis type 3	TFR2-related hemochromatosis; hemochromatosis due .. [+] TFR2-related hemochromatosis; hemochromatosis due to defect in transferrin receptor 2; HFE3 [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. [-]
platelet-type bleeding disorder 14	thromboxane synthase deficiency; BDPLT14	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. [-]
hyperphosphatemic familial tumoral calcinosis	tumoral calcinosis with hyperphosphatemia; cortica.. [+] tumoral calcinosis with hyperphosphatemia; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HFTC; HHS; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
congenital bile acid synthesis defect 4	trihydroxycoprostanic acid in bile; CBAS4; intrahe.. [+] trihydroxycoprostanic acid in bile; CBAS4; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid [-]	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. [-]
congenital generalized lipodystrophy type 2	total lipodystrophy and acromegaloid gigantism; Be.. [+] total lipodystrophy and acromegaloid gigantism; Berardinelli-Seip congenital lipodystrophy type 2; Brunzell syndrome BSCL2-related; CGL2; congenital lipoatrophic diabetes; Berardinelli-Seip syndrome [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. [-]
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	telangiectatic membranoproliferative glomeruloneph.. [+] telangiectatic membranoproliferative glomerulonephritis; glomerulonephritis with sparse hair and telangiectases; HLT-renal defect syndrome; HLTRS; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome [-]	A syndrome characterized by onset in childhood of ..[+] A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. [-]
X-linked thrombocytopenia with beta-thalassemia	thrombocytopenia, platelet dysfunction, hemolysis,.. [+] thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; XLTT [-]	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. [-]
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. [-]
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. [-]
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. [-]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	Tattoo dysplasia; Fantasy Island syndrome; SED-BDS.. [+] Tattoo dysplasia; Fantasy Island syndrome; SED-BDS; SED-brachydactyly and distinctive speech; spondyloepiphyseal dysplasia, Cantu type [-]	A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. [-]

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