| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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FG syndrome
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Opitz-Kaveggia syndrome; Keller syndrome
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A syndrome characterized by retardation, hyperacti.. [+]A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
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Japanese spotted fever
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oriental spotted fever; Rickettsia japonica spotte..
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oriental spotted fever; Rickettsia japonica spotted fever
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A spotted fever that has_material_basis_in Rickett.. [+]A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
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Carrion's disease
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Oroya fever; Carrion disease
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A bartonellosis that results_in infection located_.. [+]A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
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tooth agenesis
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oligodontia; hypodontia; selective tooth agenesis; ..
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oligodontia; hypodontia; selective tooth agenesis; familial tooth agenesis
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A tooth disease characterized by failure to develo.. [+]A tooth disease characterized by failure to develop one or more missing teeth.
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1 articles
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familial visceral amyloidosis
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OSTERTAG TYPE AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL R..
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OSTERTAG TYPE AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidosis; systemic nonneuropathic amyloidosis
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An amyloidosis that is characterized by the abnorm.. [+]An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
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tyrosinemia type II
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Oculocutaneous tyrosinemia; Richner-Hanhart syndro..
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Oculocutaneous tyrosinemia; Richner-Hanhart syndrome
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A tyrosinemia that has_material_basis_in deficienc.. [+]A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
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spondyloepiphyseal dysplasia with congenital joint dislocations
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Omani Type; CHST3-Related Skeletal Dysplasia; Hume..
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Omani Type; CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Humerospinal Dysostosis; Humerospinal dysostosis; Kozlowski Celermajer Tink syndrome; Spondyloepiphyseal Dysplasia; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; humero-spinal dysostosis; humerospinal dysostosis
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A spondyloepiphyseal dysplasia that is characteriz.. [+]A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
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urofacial syndrome
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Ochoa syndrome; hydronephrosis with peculiar facia..
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Ochoa syndrome; hydronephrosis with peculiar facial expression
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A syndrome that is characterized by inverted facia.. [+]A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
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1 articles
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focal hand dystonia
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organic writer's cramp
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A focal dystonia that affects a single muscle or s.. [+]A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
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3MC syndrome
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oculopalatoskeletal syndrome; craniofacial-ulnar-r..
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oculopalatoskeletal syndrome; craniofacial-ulnar-renal syndrome
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A syndrome characterized by blepharophimosis, blep.. [+]A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
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Bruck syndrome
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osteogenesis imperfecta with congenital joint cont..
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osteogenesis imperfecta with congenital joint contractures
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A syndrome characterized by a combination of multi.. [+]A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
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agnathia-otocephaly complex
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otocephaly; dysgnathia complex agnathia-holoprosen..
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otocephaly; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; agnathia-holoprosencephaly-situs inversus syndrome
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A physical disorder characterized by mandibular hy.. [+]A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
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Joubert syndrome with orofaciodigital defect
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OFD6; orofaciodigital syndrome VI; Varadi-Papp syn..
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orofaciodigital syndrome VI; OFD6; Varadi-Papp syndrome; Polydactyly cleft lip palate psychomotor retardation; Varadi syndrome
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A Joubert syndrome that is characterized by orofac.. [+]A Joubert syndrome that is characterized by orofaciodigital defect.
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acrofacial dysostosis, Catania type
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Opitz-Caltabiano syndrome; Opitz Mollica Sorge syn..
[+]
Opitz-Caltabiano syndrome; Opitz Mollica Sorge syndrome
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An acrofacial dysostosis that is characterized by .. [+]An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
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Feingold syndrome
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ODED syndrome; oculo-digito-esophageal-duodenal sy..
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ODED syndrome; oculo-digito-esophageal-duodenal syndrome; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; microcephaly-digital anomalies-normal intelligence syndrome
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A syndrome characterized by variable combinations .. [+]A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
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rainbow trout allergy
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Oncorhynchus mykiss allergy
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A fish allergy triggered by Oncorhynchus mykiss.
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microcephalic osteodysplastic primordial dwarfism type I
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osteodysplastic primordial dwarfism type I; brachy..
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osteodysplastic primordial dwarfism type I; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; Taybi-Linder syndrome
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An osteochondrodysplasia that is a form of microce.. [+]An osteochondrodysplasia that is a form of 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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microcephalic osteodysplastic primordial dwarfism type II
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osteodysplastic primordial dwarfism type II; Majew..
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osteodysplastic primordial dwarfism type II; Majewski osteodysplastic primordial dwarfism type II
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An osteochondrodysplasia that is a form of microce.. [+]An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
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2 articles
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congenital central hypoventilation syndrome
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Ondine curse; Ondine syndrome; CCHS; central conge..
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Ondine syndrome; Ondine curse; CCHS; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome
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An autonomic nervous system disease characterized .. [+]An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
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Duane-radial ray syndrome
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Okihiro syndrome; acrorenocular syndrome; DR syndr..
[+]
Okihiro syndrome; acrorenocular syndrome; DR syndrome; Duane anomaly with radial ray abnormalities and deafness
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A syndrome characterized by upper limb anomalies, .. [+]A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
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