| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Down syndrome
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trisomy 21 syndrome; Complete trisomy 21 syndrome ..
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trisomy 21 syndrome; Complete trisomy 21 syndrome (disorder); Down's syndrome; G Trisomy; Downs syndrome; Down's syndrome - trisomy 21; Complete trisomy 21 syndrome
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A chromosomal disease that is characterized by fla.. [+]A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
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6 articles
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oral candidiasis
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thrush; Thrush, oral; Candidiasis of mouth; Oral m..
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Thrush, oral; thrush; Candidiasis of mouth; Oral moniliasis
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A candidiasis that involves fungal infection of th.. [+]A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
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parietal lobe neoplasm
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tumor of Parietal Lobe; malignant neoplasm of pari..
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tumor of Parietal Lobe; malignant neoplasm of parietal lobe
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A cerebrum cancer that is located_in the parietal .. [+]A cerebrum cancer that is located_in the parietal lobe.
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Niemann-Pick disease
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Type A Niemann-Pick Disease; lipoid histiocytosis ..
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Type A Niemann-Pick Disease; lipoid histiocytosis (classical phosphatide); Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease type C; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, subacute juvenile form; sphingomyelin lipidosis; Sphingomyelinase Deficiency Disease; lipoid histiocytosis
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A sphingoliidosis characterized by the accumulatio.. [+]A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
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Ehlers-Danlos syndrome classic type 1
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type I Ehlers-Danlos syndrome; Ehlers-Danlos syndr..
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type I Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 1 (disorder); Ehlers-Danlos syndrome, type 1
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
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Ehlers-Danlos syndrome hypermobility type
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type III Ehlers-Danlos syndrome; Ehlers-Danlos syn..
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type III Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-Danlos syndrome, type 3
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
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brittle cornea syndrome 1
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type VIB Ehlers-Danlos syndrome; brittle cornea sy..
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type VIB Ehlers-Danlos syndrome; brittle cornea syndrome 2; Kyphoscoliosis type
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
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olivopontocerebellar atrophy
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Thomas' syndrome; Dejerine-Thomas syndrome; WADIA-..
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Thomas' syndrome; Dejerine-Thomas syndrome; WADIA-SWAMI 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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carbamazepine allergy
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Tegretol allergy; carbamazepen allergy
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A drug allergy that has_allergic_trigger carbamaze.. [+]A drug allergy that has_allergic_trigger carbamazepine.
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ceftazidime allergy
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Tazicef allergy; Fortaz allergy
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A cephalosporin allergy that has_allergic_trigger .. [+]A cephalosporin allergy that has_allergic_trigger ceftazidime.
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co-trimoxazole allergy
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trimethoprim/sulfamethoxazole allergy; TMP/SMX all..
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trimethoprim/sulfamethoxazole allergy; TMP/SMX allergy; Bactrim allergy; cotrimoxazol allergy
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A drug allergy that has_allergic_trigger co-trimox.. [+]A drug allergy that has_allergic_trigger co-trimoxazole.
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Flinders Island spotted fever
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Thai tick typhus; FISF
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A spotted fever that has_material_basis_in Rickett.. [+]A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
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Rocky Mountain spotted fever
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Tick typhus; Tobia fever; Brazillian spotted; Choi..
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Tobia fever; Tick typhus; Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; So Paulo fever
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A spotted fever that has_material_basis_in Rickett.. [+]A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
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nonepidermolytic palmoplantar keratoderma
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tylosis; Thost-Unna Syndrome; diffuse nonepidermol..
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Thost-Unna Syndrome; tylosis; diffuse nonepidermolytic palmomplantar keratoderma; Unna-Thost Syndrome
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A palmoplantar keratosis characterized by a well-d.. [+]A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
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Antley-Bixler syndrome with disordered steroidogenesis
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trapezoidocephaly-synostosis syndrome
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An Antley-Bixler syndrome that is characterized at.. [+]An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
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endemic typhus
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toulon typhus; cat flea rickettsiosis; fleaborne t..
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toulon typhus; cat flea rickettsiosis; fleaborne typhus; murine typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; Shop typhus; urban typhus; Urban Typhus of Malaya
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A typhus that has_material_basis_in Rickettsia typ.. [+]A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.
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nonphotosensitive trichothiodystrophy 4
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TTD4; AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYND..
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TTD4; AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; HAIR-BRAIN SYNDROME; BIDS syndrome
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A syndrome that is characterized by brittle hair, .. [+]A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
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familial medullary thyroid carcinoma
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THYROID CARCINOMA, FAMILIAL MEDULLARY
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A thyroid gland medullary carcinoma that has_mater.. [+]A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
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Saldino-Noonan syndrome
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type I short rib polydactyly syndrome
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n_a
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asphyxiating thoracic dystrophy
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thoracic pelvic phalangeal dystrophy; Jeune syndro..
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thoracic pelvic phalangeal dystrophy; Jeune syndrome; short-rib thoracic dysplasia with or without polydactyly
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A bone development disease characterized by skelet.. [+]A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
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1 articles
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biliary tract benign neoplasm
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tumor of the extrahepatic bile duct; extrahepatic ..
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tumor of the extrahepatic bile duct; extrahepatic bile duct neoplasm; neoplasm of extrahepatic bile ducts (disorder); neoplasm of extrahepatic bile ducts
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A hepatobiliary benign neoplasm located_in the bil.. [+]A hepatobiliary benign neoplasm located_in the biliary tract.
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nicotine dependence
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tobacco use disorder
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A substance dependence that is characterized by a .. [+]A substance dependence that is characterized by a physical dependence on nicotine.
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1 articles
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X-linked severe combined immunodeficiency
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thymic epithelial hypoplasia; SCID-X1; XSCID; X-Li..
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thymic epithelial hypoplasia; SCID-X1; XSCID; X-Linked Severe Combined Immunodeficiency; gamma chain deficiency
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A severe combined immunodeficiency that is a X-lin.. [+]A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
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immunodeficiency with hyper IgM type 3
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type 3 hyper-IgM immunodeficiency; hyper-IgM syndr..
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type 3 hyper-IgM immunodeficiency; hyper-IgM syndrome due to CD40 deficiency; immunodeficiency with hyper-IgM type 3; CD40 deficiency
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A hyper IgM syndrome that has_material_basis_in mu.. [+]A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
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Good syndrome
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thymoma with hypogammaglobulinemia
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A combined T cell and B cell immunodeficiency that.. [+]A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
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connective tissue benign neoplasm
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tumor of the soft tissue; soft tissue benign neopl..
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tumor of the soft tissue; soft tissue benign neoplasm; neoplasm of soft tissue; neoplasm of soft tissues; mesenchymal tissue neoplasm
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A musculoskeletal system benign neoplasm that is l.. [+]A musculoskeletal system benign neoplasm that is located_in connective tissue.
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amyotrophic lateral sclerosis type 10
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TARDBP-related frontotemporal lobar degeneration w..
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TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions; ALS10; amyotrophic lateral sclerosis 10; amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
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An amyotrophic lateral sclerosis that has_material.. [+]An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
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Balo concentric sclerosis
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Tumefactive multiple sclerosis; Balo's concentric ..
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Tumefactive multiple sclerosis; Balo's concentric sclerosis; Balo disease
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A multiple sclerosis that is characterized by conc.. [+]A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
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3-M syndrome
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three M syndrome; gloomy face syndrome; Le Merrer ..
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three M syndrome; gloomy face syndrome; Le Merrer syndrome; Yakut short stature syndrome; Miller-McKusick-Malvaux syndrome; dolichospondylic dysplasia
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A syndrome characterized by dwarfism, facial dysmo.. [+]A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
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Stormorken syndrome
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thrombocytopathy, asplenia and miosis
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A blood platelet disease characterized by thromboc.. [+]A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
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distal 10q deletion syndrome
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terminal chromosome 10q26 deletion syndrome; telom..
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terminal chromosome 10q26 deletion syndrome; telomeric deletion 10q; chromosome 10q26 deletion syndrome; monosomy 10qter; distal monosomy 10q
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n_a
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chromosome 15q26-qter deletion syndrome
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telomeric 15q deletion syndrome; 15q26 deletion sy..
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telomeric 15q deletion syndrome; 15q26 deletion syndrome; distal 15q deletion syndrome; distal monosomy 15q; Drayer syndrome
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A chromosomal deletion syndrome that is characteri.. [+]A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
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1 articles
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chromosome 16p13.3 duplication syndrome
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telomeric duplication 16p; 16p13.3 microduplicatio..
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telomeric duplication 16p; 16p13.3 microduplication syndrome; distal duplication 16p; distal trisomy 16p
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.
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chromosome 17p13.3 duplication syndrome
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trisomy 17p13.3; 17p13.3 duplication syndrome; 17p..
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trisomy 17p13.3; 17p13.3 duplication syndrome; 17p13.3 microduplication syndrome; chromosome 17p13.3 centromeric duplication syndrome
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region.
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chromosome 17q12 duplication syndrome
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trisomy 17q12; 17q12 microduplication syndrome
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
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chromosome 17q21.31 duplication syndrome
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trisomy 17q21.31; 17q21.31 microduplication syndro..
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trisomy 17q21.31; 17q21.31 microduplication syndrome
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region.
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chromosome 1q21.1 duplication syndrome
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trisomy 1q21.1; 1q21.1 microduplication syndrome
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.
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chromosome 22q11.2 microduplication syndrome
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trisomy 22q11.2; 22q11.2 microduplication syndrome..
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trisomy 22q11.2; 22q11.2 microduplication syndrome; duplication 22q11.2
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.
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chromosome 3q29 microduplication syndrome
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trisomy 3q29; 3q29 microduplication
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region.
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chromosome 5p13 duplication syndrome
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trisomy 5p13; 5p13 microduplication syndrome
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.
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chromosome Xp11.23-p11.22 duplication syndrome
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trisomy Xp11.22-p11.23; microduplication Xp11.22-p..
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trisomy Xp11.22-p11.23; microduplication Xp11.22-p11.23 syndrome
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A chromosomal duplication syndrome that has_materi.. [+]A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.
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horned turban snail allergy
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Turbo cornutus allergy
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A snail allergy triggered by the horned turban sna.. [+]A snail allergy triggered by the horned turban snail.
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ankyloglossia
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tongue-tie
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A tongue disease characterized by an unusually sho.. [+]A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.
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microcephalic osteodysplastic primordial dwarfism type I
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Taybi-Linder syndrome; brachymelic primordial dwar..
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Taybi-Linder syndrome; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I
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A microcephalic osteodysplastic primordial dwarfis.. [+]A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
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1 articles
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Pendred Syndrome
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TDH2B; thyroid dyshormonogenesis 2B; congenital hy..
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thyroid dyshormonogenesis 2B; TDH2B; congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; goiter-deafness syndrome; genetic defect in thyroid hormonogenesis 2B
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A syndrome characterized by bilateral prelingual s.. [+]A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
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4 articles
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restrictive dermopathy
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tight skin contracture syndrome; hyperkeratosis-co..
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tight skin contracture syndrome; hyperkeratosis-contracture syndrome; lethal restrictive dermopathy; Infantile restrictive dermopathy; Lethal tight skin contracture syndrome
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A skin disease characterized by thin, tightly adhe.. [+]A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.
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1 articles
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congenital diarrhea 5 with tufting enteropathy
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tufting enteropathy; congenital familial intractab..
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tufting enteropathy; congenital familial intractable diarrhea with epithelial or epithelium abnormalities; DIAR5; congenital diarrhoea 5 with tufting enteropathy; congenital familial intractable diarrhoea with epithelial or epithelium abnormalities; congenital tufting enteropathy
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A congenital diarrhea characterized by intractable.. [+]A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21.
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hypomyelinating leukodystrophy 7
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tremor-ataxia-central hypomyelination syndrome; TA..
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tremor-ataxia-central hypomyelination syndrome; TACH syndrome; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; dentoleukoencephalopathy
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A hypomyelinating leukodystrophy characterized by .. [+]A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
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hereditary neuropathy with liability to pressure palsies
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tomaculous neuropathy; tulip-bulb digger's palsy; ..
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tulip-bulb digger's palsy; tomaculous neuropathy; current pressure-sensitive neuropathy; familial recurrent polyneuropathy; HNPP; heterozygous microdeletion 17p11.2p12; potato-grubbing palsy
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A neuropathy characterized by autosomal dominant i.. [+]A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12.
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Potocki-Lupski syndrome
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trisomy 17p11.2; 17p11.2 microduplication syndrome..
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trisomy 17p11.2; 17p11.2 microduplication syndrome; chromosome 17p11.2 duplication syndrome
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A chromosomal duplication syndrome characterized b.. [+]A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.
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