| D007849 |
Laurence-Moon Syndrome |
An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9) |
Laurence-Moon-Biedl Syndrome,Laurence Moon Biedl Syndrome,Laurence Moon Syndrome,Syndrome, Laurence-Moon,Syndrome, Laurence-Moon-Biedl |
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| D012162 |
Retinal Degeneration |
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) |
Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations |
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| D002874 |
Chromosome Mapping |
Any method used for determining the location of and relative distances between genes on a chromosome. |
Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage |
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| D002880 |
Chromosomes, Human, Pair 11 |
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. |
Chromosome 11 |
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| D004273 |
DNA, Neoplasm |
DNA present in neoplastic tissue. |
Neoplasm DNA |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000074287 |
TRPC6 Cation Channel |
A non-selective, calcium permeant TRPC cation channel that contains four ANKYRIN REPEATS and is activated by DIACYLGLYCEROL independently of PROTEIN KINASE C. It is expressed in placenta, lung, spleen, ovary and the small intestine, as well as by PODOCYTES in the kidney glomerulus. Mutations in the TRPC6 gene are associated with FOCAL SEGMENTAL GLOMERULOSCLEROSIS type 2. |
TRPC6,Transient Receptor Potential Cation Channel Subfamily C, Member 6,Cation Channel, TRPC6,Channel, TRPC6 Cation |
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| D014158 |
Transcription, Genetic |
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION. |
Genetic Transcription |
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| D014785 |
Vision, Ocular |
The process in which light signals are transformed by the PHOTORECEPTOR CELLS into electrical signals which can then be transmitted to the brain. |
Vision,Light Signal Transduction, Visual,Ocular Vision,Visual Light Signal Transduction,Visual Phototransduction,Visual Transduction,Phototransduction, Visual,Transduction, Visual |
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| D015220 |
Calcium Channels |
Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue. |
Ion Channels, Calcium,Receptors, Calcium Channel Blocker,Voltage-Dependent Calcium Channel,Calcium Channel,Calcium Channel Antagonist Receptor,Calcium Channel Antagonist Receptors,Calcium Channel Blocker Receptor,Calcium Channel Blocker Receptors,Ion Channel, Calcium,Receptors, Calcium Channel Antagonist,VDCC,Voltage-Dependent Calcium Channels,Calcium Channel, Voltage-Dependent,Calcium Channels, Voltage-Dependent,Calcium Ion Channel,Calcium Ion Channels,Channel, Voltage-Dependent Calcium,Channels, Voltage-Dependent Calcium,Voltage Dependent Calcium Channel,Voltage Dependent Calcium Channels |
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