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- X-linked_congenital_stationary_night_blindness abstract "X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal disorder. It has two forms, complete, also known as type-1 (CSNB1), and incomplete, also known as type-2 (CSNB2), depending on severity. In the complete form (CSNB1), there is no measurable rod cell response to light, whereas this response is measurable in the incomplete form. Patients with this disorder have difficulty adapting to low light situations due to impaired photoreceptor transmission. These patients also often have reduced visual acuity, myopia, nystagmus, and strabismus. CSNB1 is caused by mutations in the gene NYX, which encodes a protein involved in retinal synapse formation or synaptic transmission. CSNB2 is caused by mutations in the gene CACNA1F, which encodes a voltage-gated calcium channel CaV1.4.Not all Congenital Stationary Night Blindness (CSNB) are inherited in X-linked pattern. There are also dominant and recessive inheritance patterns for CSNB.".
- X-linked_congenital_stationary_night_blindness diseasesdb "32689".
- X-linked_congenital_stationary_night_blindness icd10 "H53.6".
- X-linked_congenital_stationary_night_blindness icd9 "368.61".
- X-linked_congenital_stationary_night_blindness medlineplus "003039".
- X-linked_congenital_stationary_night_blindness omim "310500".
- X-linked_congenital_stationary_night_blindness thumbnail Gray881.png?width=300.
- X-linked_congenital_stationary_night_blindness wikiPageExternalLink br.fcgi?book=gene&part=csnb.
- X-linked_congenital_stationary_night_blindness wikiPageID "8159922".
- X-linked_congenital_stationary_night_blindness wikiPageRevisionID "604704014".
- X-linked_congenital_stationary_night_blindness caption "Malfunction in transmission from the photoreceptors in the outer nuclear layer to bipolar cells in the inner nuclear layer underlies CSNB.".
- X-linked_congenital_stationary_night_blindness diseasesdb "32689".
- X-linked_congenital_stationary_night_blindness hasPhotoCollection X-linked_congenital_stationary_night_blindness.
- X-linked_congenital_stationary_night_blindness icd "368.61".
- X-linked_congenital_stationary_night_blindness icd "H53.6".
- X-linked_congenital_stationary_night_blindness medlineplus "3039".
- X-linked_congenital_stationary_night_blindness name "X-linked congenital stationary night blindness".
- X-linked_congenital_stationary_night_blindness omim "310500".
- X-linked_congenital_stationary_night_blindness wordnet_type synset-disease-noun-1.
- X-linked_congenital_stationary_night_blindness subject Category:Channelopathy.
- X-linked_congenital_stationary_night_blindness subject Category:Diseases_of_the_eye_and_adnexa.
- X-linked_congenital_stationary_night_blindness type Abstraction100002137.
- X-linked_congenital_stationary_night_blindness type Attribute100024264.
- X-linked_congenital_stationary_night_blindness type Condition113920835.
- X-linked_congenital_stationary_night_blindness type Disease114070360.
- X-linked_congenital_stationary_night_blindness type IllHealth114052046.
- X-linked_congenital_stationary_night_blindness type Illness114061805.
- X-linked_congenital_stationary_night_blindness type PathologicalState114051917.
- X-linked_congenital_stationary_night_blindness type PhysicalCondition114034177.
- X-linked_congenital_stationary_night_blindness type State100024720.
- X-linked_congenital_stationary_night_blindness type Disease.
- X-linked_congenital_stationary_night_blindness type AilmentCondition.
- X-linked_congenital_stationary_night_blindness type Situation.
- X-linked_congenital_stationary_night_blindness comment "X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal disorder. It has two forms, complete, also known as type-1 (CSNB1), and incomplete, also known as type-2 (CSNB2), depending on severity. In the complete form (CSNB1), there is no measurable rod cell response to light, whereas this response is measurable in the incomplete form. Patients with this disorder have difficulty adapting to low light situations due to impaired photoreceptor transmission.".
- X-linked_congenital_stationary_night_blindness label "X-linked congenital stationary night blindness".
- X-linked_congenital_stationary_night_blindness sameAs m.026tr6w.
- X-linked_congenital_stationary_night_blindness sameAs Q8041552.
- X-linked_congenital_stationary_night_blindness sameAs Q8041552.
- X-linked_congenital_stationary_night_blindness sameAs 3381.
- X-linked_congenital_stationary_night_blindness sameAs X-linked_congenital_stationary_night_blindness.
- X-linked_congenital_stationary_night_blindness wasDerivedFrom X-linked_congenital_stationary_night_blindness?oldid=604704014.
- X-linked_congenital_stationary_night_blindness depiction Gray881.png.
- X-linked_congenital_stationary_night_blindness isPrimaryTopicOf X-linked_congenital_stationary_night_blindness.
- X-linked_congenital_stationary_night_blindness name "X-linked congenital stationary night blindness".
