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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules [1] of the kidney.It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, excess calcium in the urine, formation of calcium kidney stones, nephrocalcinosis, and chronic kidney failure.
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12662 Ensembl ENSG00000188419 ENSMUSG00000025531 UniProt P24386 Q9QXG2 RefSeq (mRNA) NM_000390 NM_001037312 NM_001145414 NM_001320959 NM_001362517 NM_001362518 NM_001362519 NM_152579 NM_018818 NM_001370788 NM_001370789 NM_001370790 RefSeq (protein) NP_000381 NP_001138886 NP_001307888 NP_001349446 NP_001349447 NP_001349448 n/a Location (UCSC) Chr X: 85.86 – 86.05 Mb Chr X: 111.95 – 112.1 Mb ...
Chorioretinitis is an inflammation of the choroid (thin pigmented vascular coat of the eye) and retina of the eye. It is a form of posterior uveitis.Inflammation of these layers can lead to vision-threatening complications.
The Mayo Clinic diet, a program that adheres to this notion, was developed by medical professionals based on scientific research, so you can trust that this program is based on science, and not ...
When it comes to losing weight, there are no shortage of unproven recommendations to choose from: fad diets like the carnivore diet or GOLO diet; juice cleanses and vitamin injections; plus a host ...