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Disease	Synonyms	Description
restless legs syndrome	Wittmaack-Ekbom syndrome; Willis-Ekbom disease; WE.. [+] Willis-Ekbom disease; Wittmaack-Ekbom syndrome; WED [-]	A central nervous system disease characterized by ..[+] A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. [-]
seasonal affective disorder	winter depression	A mental depression that involves presentation of ..[+] A mental depression that involves presentation of depressive symptoms only during a specific season of the year. [-]
orofaciodigital syndrome VII	Whelan syndrome; OFD7	n_a
Thiel-Behnke corneal dystrophy	Waardenburg-Jonker corneal dystrophy; corneal dyst.. [+] Waardenburg-Jonker corneal dystrophy; corneal dystrophy honeycomb-shaped; corneal dystrophy of Bowman layer type II; anterior limiting membrane dystrophy type II; TBCD [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
anomalous left coronary artery from the pulmonary artery	White-Garland syndrome; Bland-White-Garland syndro.. [+] White-Garland syndrome; Bland-White-Garland syndrome; ALCAPA [-]	A coronary artery anomaly in which the left corona..[+] A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. [-]
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	winged helix deficiency; alymphoid cystic thymic d.. [+] winged helix deficiency; alymphoid cystic thymic dysgenesis; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. [-]
EEC syndrome	Walker-Clodius syndrome; ectrodactyly, ectodermal .. [+] Walker-Clodius syndrome; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; Rudiger syndrome 1; ectrodactyly-ectodermal dysplasia-clefting syndrome [-]	A syndrome characterized by ectrodactyly, ectoderm..[+] A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). [-]
microphthalmia with limb anomalies	Waardenburg anophthalmia syndrome; OAS; ophthalmoa.. [+] Waardenburg anophthalmia syndrome; OAS; ophthalmoacromelic syndrome; anophthalmia-syndactyly syndrome; MLA [-]	A syndrome that is characterized by autosomal rece..[+] A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. [-]
lymphoplasmacytic lymphoma	Waldenstroem's macroglobulinemia; Waldenstrom Macr.. [+] Waldenstroem's macroglobulinemia; Waldenstrom Macroglobulinemia; lymphoplasmacytic lymphoma with IgM gammopathy [-]	A B-cell lymphoma characterized by the accumulatio..[+] A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. [-]
COVID-19	Wuhan seafood market pneumonia virus infection; Wu.. [+] Wuhan seafood market pneumonia virus infection; Wuhan coronavirus infection; 2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; COVID19; SARS-CoV-2 infection [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. [-]
7q11.23 duplication syndrome	William-Beuren region duplication syndrome; 7q11.2.. [+] William-Beuren region duplication syndrome; 7q11.23 microduplication syndrome; chromosome 7q11.23 duplication syndrome [-]	A chromosomal duplication syndrome that is charact..[+] A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. [-]
spastic paraplegia with deafness	Wells Jankovic Syndrome; Spastic paraparesis-deafn.. [+] Wells Jankovic Syndrome; Spastic paraparesis-deafness syndrome [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. [-]
hot water epilepsy	water immersion epilepsy; bathing epilepsy	A reflex epilepsy that is characterized by seizure..[+] A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. [-]
DeSanto-Shinawi syndrome	WAC-related facial dysmorphism-developmental delay.. [+] WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome; Chromosome 10p12-p11 deletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation [-]	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. [-]
ocular albinism with sensorineural deafness	WS2-OA; autosomal recessive Waardenburg syndrome t.. [+] WS2-OA; autosomal recessive Waardenburg syndrome type 2 with ocular albinism; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism [-]	An ocular albinism that is characterized by deafne..[+] An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. [-]
geroderma osteodysplasticum	Walt Disney dwarfism; gerodermia osteodysplastica; .. [+] Walt Disney dwarfism; gerodermia osteodysplastica; GO; geroderma osteodysplastica [-]	A syndrome characterized by lax and wrinkled skin,..[+] A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. [-]
Mullerian aplasia and hyperandrogenism	WNT4 deficiency; Mullerian duct failure and hypera.. [+] WNT4 deficiency; Mullerian duct failure and hyperandrogenism [-]	A disorder of sexual development characterized by ..[+] A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. [-]
hypoplastic or aplastic tibia with polydactyly	Werner mesomelic syndrome; absence of tibia with p.. [+] Werner mesomelic syndrome; absence of tibia with polydactyly; absent tibia-polydactyly syndrome; hypoplastic tibiae-postaxial polydactyly syndrome; tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome [-]	A syndrome characterized by preaxial polydactyly o..[+] A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
familial woolly hair syndrome	woolly hair; wooly hair; hereditary woolly hair sy.. [+] wooly hair; woolly hair; hereditary woolly hair syndrome; hereditary wooly hair syndrome; familial wooly hair syndrome [-]	A hair disease characterized by fine and tightly c..[+] A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. [-]
Freeman-Sheldon syndrome	whistling face-windmill vane hand syndrome; whistl.. [+] whistling face-windmill vane hand syndrome; whistling face syndrome; craniocarpotarsal dysplasia; craniocarpotarsal dystrophy [-]	A distal arthrogryposis characterized by microstom..[+] A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. [-]

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