Autosomal Recessive Hyper IgE Syndrome
Also known as: AR-HIES HIES HIE syndrome hyperimmunoglobulin E recurrent infection syndrome Job syndrome, autosomal recessive
Also known as: AR-HIES HIES HIE syndrome hyperimmunoglobulin E recurrent infection syndrome Job syndrome, autosomal recessive
Also known as: ARHR2 ENPP1 deficiency
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Also known as: ARPKD polycystic kidney disease, infantile
Also known as: Rieger syndrome iridogoniodysgenesis with somatic anomalies Rieger anomaly Axenfeld syndrome Axenfeld anomaly
Also known as: Piriplasmosis Redwater Fever
Also known as: ODC1 gain-of-function-related neurodevelopmental disorder neurodevelopmental disorder with alopecia and brain abnormalities; NEDABA BABS
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Also known as: Balantidiosis Balantidosis Ciliary Dysentery
Also known as: Concentric Sclerosis Encephalitis Periaxialis Concentrica Leukoencephalitis Periaxialis Concentric
Also known as: BRRS Riley-Smith syndrome Bannayan-Zonana syndrome Ruvalcaba-Myhre-Smith syndrome
Also known as: Banti's Disease Hypersplenism Idiopathic congestive splenomegaly Idiopathic portal hypertension
Also known as: HDR syndrome hypoparathyroidism, sensorineural deafness and renal dysplasia (or disease)
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Also known as: BBS
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Also known as: X linked endocardial fibroelastosis (EFE) X linked cardioskeletal myopathy and neutropenia 3-methylglutaconic aciduria, Type II (MGA, Type II) cardioskeletal myopathy, Barth type cardioskeletal myopathy with neutropenia and abnormal mitochondria endocardial fibroelastosis, type 2 (EFE2)
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Also known as: salt-losing tubulopathy with secondary hyperaldosteronism