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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
epithelial malignant thymoma
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Well differentiated thymic carcinoma; Thymoma, epi..
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Well differentiated thymic carcinoma; Thymoma, epithelial; Squamoid Thymoma
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n_a
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intermediate coronary syndrome
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Worsening angina; (Angina: [crescendo] or [unstabl..
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Worsening angina; (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction); Impending infarction (disorder); Preinfarction angina; Preinfarction angina (disorder); Anginal chest pain at rest; Angina at rest; Impending infarction; Unstable angina
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n_a
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autoimmune thrombocytopenic purpura
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werlhof's disease; Autoimmune thrombocytopenic pur..
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werlhof's disease; Autoimmune thrombocytopenic purpura; Idiopathic purpura; idiopathic thrombocytopenic purpura; Immune thrombocytopenic purpura (disorder); Ideopath thrombocytopenic pur; Immune thrombocytopenic purpura; primary thrombocytopenic purpura
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A primary thrombocytopenia that involves relativel.. [+]
A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
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variola minor
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whitepox; Alastrim; cottonpox; Variola minor; milk..
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whitepox; Alastrim; cottonpox; Variola minor; milkpox
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A smallpox that results_in milder infection, locat.. [+]
A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
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frontotemporal dementia
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Wilhemsen-Lynch disease; frontotemporal lobar dege..
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Wilhemsen-Lynch disease; frontotemporal lobar degeneration; multiple system tauopathy with presenile dementia; pallidopontonigral degeneration
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A dementia characterized by progressive neuronal l.. [+]
A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
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1 articles
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multiple endocrine neoplasia type 2B
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Wagenmann-Froboese syndrome; MEN type IIB; MEN2B; ..
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Wagenmann-Froboese syndrome; MEN type IIB; MEN2B; mucosal neuroma syndrome; Multiple endocrine neoplasia, type 3; multiple endocrine neoplasia type 2b
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A multiple endocrine neoplasia characterized by me.. [+]
A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
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multiple endocrine neoplasia type 1
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Wermer syndrome; Wermer's syndrome; MEN type I; mu..
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Wermer's syndrome; Wermer syndrome; MEN type I; multiple endocrine neoplasia type 1
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A multiple endocrine neoplasia that has_material_b.. [+]
A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
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conjunctival pterygium
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Web eye
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A pterygium that is characterized by conjunctival .. [+]
A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula.
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Kuhnt-Junius degeneration
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Wet senile macular retinal degeneration; Exudative..
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Wet senile macular retinal degeneration; Exudative senile macular degeneration of retina; Senile macular degeneration, wet; Neovascular age-related macular degeneration
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n_a
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acute hemorrhagic leukoencephalitis
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Weston-Hurst syndrome; acute haemorrhagic leucoenc..
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Weston-Hurst syndrome; acute haemorrhagic leucoencephalitis of Weston Hurst; acute hemorrhagic encephalomyelitis; acute necrotizing hemorrhagic leukoencephalitis; AHL
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A very rare form of acute disseminated encephalomy.. [+]
A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
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immature cataract
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Water clefts; Incipient senile cataract; Incipient..
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Water clefts; Incipient senile cataract; Incipient cataract
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A senile cataract that is characterized by variabl.. [+]
A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining.
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trench fever
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Wolhynian fever; His-Werner disease; Quintan fever..
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Wolhynian fever; His-Werner disease; Quintan fever; Trench fever; tibialgic fever; shin bone fever
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A primary bacterial infectious disease that result.. [+]
A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
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syndactyly
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webbing of digits; symphalangism; symphalangy; chr..
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webbing of digits; symphalangism; symphalangy; chromosome 2q35 duplication syndrome
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A synostosis that results_in the fusion of two or .. [+]
A synostosis that results_in the fusion of two or more digits.
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2 articles
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granulomatosis with polyangiitis
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Wegener granulomatosis, formerly; Wegener's syndro..
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Wegener granulomatosis, formerly; Wegener's syndrome (disorder); Wegener granulomatosis; Granulomatosis - Wegener's; Necrotizing respiratory granulomatosis
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An autoimmune disease that is characterized by nec.. [+]
An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
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Proteus syndrome
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Wiedemann's syndrome
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A PTEN hamartoma tumor syndrome that is characteri.. [+]
A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
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excessive tearing
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Watering eye; Epiphora; Excessive tear production; ..
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Watering eye; Epiphora; Excessive tear production
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n_a
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hypokalemic periodic paralysis
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Westphal disease; familial hypokalemic periodic pa..
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Westphal disease; familial hypokalemic periodic paralysis (disorder); familial periodic paralysis (& [hypokalaemic]); Hypokalemic familial periodic paralysis; Hypokalemic periodic paralysis (disorder); periodic hypokalemic paralysis; familial hypokalemic periodic paralysis; familial periodic paralysis; Hypokalemic periodic paralysis; Periodic paralysis I
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n_a
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5 articles
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olivopontocerebellar atrophy
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WADIA-SWAMI SYNDROME; Dejerine-Thomas syndrome; Th..
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WADIA-SWAMI SYNDROME; Dejerine-Thomas syndrome; Thomas' syndrome
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A neurodegenerative disease that is characterized .. [+]
A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
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inhalation anthrax
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wool-sorters' disease; woolsorters' disease; pulmo..
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woolsorters' disease; wool-sorters' disease; pulmonary anthrax; respiratory anthrax
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An anthrax disease that results in infection locat.. [+]
An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
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autoimmune polyendocrine syndrome type 1
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Whitaker syndrom; Whitaker syndrome; autoimmune po..
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Whitaker syndrome; Whitaker syndrom; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; Autoimmune Polyglandular Syndrome I
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An autoimmune polyendocrine syndrome that is inher.. [+]
An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
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tick-borne encephalitis
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Western European tick-borne encephalitis; west-Sib..
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Western European tick-borne encephalitis; west-Siberian encephalitis; Russian spring-summer encephalitis; Siberian tick-borne encephalitis; Central European encephalitis; Taiga encephalitis; Far Eastern TBE
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A viral infectious disease that results_in inflamm.. [+]
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
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restless legs syndrome
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Wittmaack-Ekbom syndrome; Willis-Ekbom disease; WE..
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Willis-Ekbom disease; Wittmaack-Ekbom syndrome; WED
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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.
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seasonal affective disorder
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winter depression
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A mental depression that involves presentation of .. [+]
A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
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orofaciodigital syndrome VII
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Whelan syndrome; OFD7
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An orofaciodigital syndrome that is characterized .. [+]
An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.
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Thiel-Behnke corneal dystrophy
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Waardenburg-Jonker corneal dystrophy; corneal dyst..
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Waardenburg-Jonker corneal dystrophy; corneal dystrophy honeycomb-shaped; corneal dystrophy of Bowman layer type II; anterior limiting membrane dystrophy type II; TBCD
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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.
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anomalous left coronary artery from the pulmonary artery
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White-Garland syndrome; Bland-White-Garland syndro..
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White-Garland syndrome; Bland-White-Garland syndrome; ALCAPA
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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.
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T-cell immunodeficiency, congenital alopecia, and nail dystrophy
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winged helix deficiency; alymphoid cystic thymic d..
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winged helix deficiency; alymphoid cystic thymic dysgenesis; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
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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.
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EEC syndrome
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Walker-Clodius syndrome; ectrodactyly, ectodermal ..
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Walker-Clodius syndrome; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; Rudiger syndrome 1; ectrodactyly-ectodermal dysplasia-clefting syndrome
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A syndrome characterized by ectrodactyly, ectoderm.. [+]
A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
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microphthalmia with limb anomalies
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Waardenburg anophthalmia syndrome; OAS; ophthalmoa..
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Waardenburg anophthalmia syndrome; OAS; ophthalmoacromelic syndrome; anophthalmia-syndactyly syndrome; MLA
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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.
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lymphoplasmacytic lymphoma
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Waldenstroem's macroglobulinemia; Waldenstrom Macr..
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Waldenstroem's macroglobulinemia; Waldenstrom Macroglobulinemia; lymphoplasmacytic lymphoma with IgM gammopathy
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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.
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palmoplantar keratoderma and woolly hair
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woolly hair-palmoplantar keratoderma syndrome type..
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woolly hair-palmoplantar keratoderma syndrome type 4; keratoderma with woolly hair type IV; PPKWH
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A nonepidermolytic palmoplantar keratoderma charac.. [+]
A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.
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COVID-19
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Wuhan seafood market pneumonia virus infection; Wu..
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Wuhan seafood market pneumonia virus infection; Wuhan coronavirus infection; 2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; COVID19; SARS-CoV-2 infection
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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.
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7q11.23 duplication syndrome
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William-Beuren region duplication syndrome; 7q11.2..
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William-Beuren region duplication syndrome; 7q11.23 microduplication syndrome; chromosome 7q11.23 duplication syndrome
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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.
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spastic paraplegia with deafness
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Wells Jankovic Syndrome; Spastic paraparesis-deafn..
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Wells Jankovic Syndrome; Spastic paraparesis-deafness syndrome
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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.
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hot water epilepsy
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water immersion epilepsy; bathing epilepsy
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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.
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DeSanto-Shinawi syndrome
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WAC-related facial dysmorphism-developmental delay..
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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
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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.
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ocular albinism with sensorineural deafness
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WS2-OA; autosomal recessive Waardenburg syndrome t..
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WS2-OA; autosomal recessive Waardenburg syndrome type 2 with ocular albinism; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism
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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.
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congenital muscular dystrophy-dystroglycanopathy type A11
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11; MDDGA11
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
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congenital muscular dystrophy-dystroglycanopathy type A8
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8; MDDGA8
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
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congenital muscular dystrophy-dystroglycanopathy type A9
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9; MDDGA9
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
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congenital muscular dystrophy-dystroglycanopathy A14
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14; MDDGA14
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
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congenital muscular dystrophy-dystroglycanopathy A7
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; MDDGA7
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
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congenital muscular dystrophy-dystroglycanopathy type A12
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease POMK-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12; MDDGA12
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
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congenital muscular dystrophy-dystroglycanopathy type A3
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; MDDGA3
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
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congenital muscular dystrophy-dystroglycanopathy type A1
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; MDDGA1
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
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congenital muscular dystrophy-dystroglycanopathy type A13
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related; Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13; MDDGA13
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
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congenital muscular dystrophy-dystroglycanopathy type A10
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10; MDDGA10
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
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congenital muscular dystrophy-dystroglycanopathy type A2
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; MDDGA2
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
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congenital muscular dystrophy-dystroglycanopathy type A5
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; MDDGA5
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
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congenital muscular dystrophy-dystroglycanopathy type A6
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6; MDDGA6
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
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