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Disease	Synonyms	Description	Articles
Andersen-Tawil syndrome	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS.. [+] ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS; Long QT syndrome 7; LQT7; Andersen syndrome ; Potassium-Sensitive Cardiodysrhythmic Type; [-]	A long QT syndrome that has_material_basis_in auto..[+] A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. [-]	6 articles
Angelman syndrome	puppetlike syndrome; happy puppet syndrome;	A syndrome that is characterized by delayed develo..[+] A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. [-]
Angelucci's syndrome	acute atopic conjunctivitis; Angelucci syndrome;	n_a
Antley-Bixler syndrome	Antley and Bixler's syndrome; Antley Bixler syndro.. [+] Antley and Bixler's syndrome; Antley Bixler syndrome; [-]	A craniosynostosis that is characterized by radioh..[+] A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. [-]
Antley-Bixler syndrome with disordered steroidogenesis	trapezoidocephaly-synostosis syndrome;	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. [-]
Antley-Bixler syndrome without disordered steroidogenesis		An Antley-Bixler syndrome that has_material_basis_..[+] An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. [-]
Arboleda-Tham syndrome	autosomal dominant mental retardation 32; ARTHS; a.. [+] autosomal dominant mental retardation 32; ARTHS; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant non-syndromic intellectual disability 32; MRD32; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. [-]
Arenaviridae infectious disease		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. [-]
Argentine hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. [-]
Argyll Robertson pupil	Argyll Robertson phenomenon or pupil, nonsyphiliti.. [+] Argyll Robertson phenomenon or pupil, nonsyphilitic; Atypical Argyll-Robertson pupil; Argyll Robertson pupil, atypical; [-]	An abnormal pupillary function characterized by a ..[+] An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. [-]
Armfield syndrome	Armfield X-linked mental retardation syndrome; men.. [+] Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; MRXSA; syndromic X-linked mental retardation Armfield type; X-linked intellectual disability, Armfield type; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. [-]
Arts syndrome	ARTS; fatal X-linked ataxia with deafness and loss.. [+] ARTS; fatal X-linked ataxia with deafness and loss of vision; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; Lethal ataxia with deafness and optic atrophy; MRXS18; [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
Askin's tumor	Askin tumor; Askin tumour; Askin's tumour;	An Ewing sarcoma that arises from the soft tissues..[+] An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. [-]
Asperger syndrome		An autism spectrum disorder that is characterized ..[+] An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. [-]
Astrakhan spotted fever		A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
Athabaskan brainstem dysgenesis syndrome	NAVAJO BRAINSTEM SYNDROME;	A brain disease that is characterized by brainstem..[+] A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. [-]
Atlantic cod allergy	Gadus morhua fish allergy;	A fish allergy triggered by Gadus morhua.
Atlantic salmon allergy	Salmo salar fish allergy;	A fish allergy triggered by Salmo salar.
Axenfeld-Rieger syndrome	Anomaly, Rieger's; RGS - Rieger syndrome; Rieger's.. [+] Anomaly, Rieger's; RGS - Rieger syndrome; Rieger's anomaly; Axenfeld syndrome ; Hagedoom syndrome; [-]	An eye disease characterized by abnormalities of t..[+] An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]	3 articles
Axenfeld-Rieger syndrome type 1	RIEG1; Rieger syndrome type 1;	An Axenfeld-Rieger syndrome that has material basi..[+] An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. [-]	2 articles

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