| D009055 |
Mouth |
The oval-shaped oral cavity located at the apex of the digestive tract and consisting of two parts: the vestibule and the oral cavity proper. |
Oral Cavity,Cavitas Oris,Cavitas oris propria,Mouth Cavity Proper,Oral Cavity Proper,Vestibule Oris,Vestibule of the Mouth,Cavity, Oral |
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| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D002675 |
Child, Preschool |
A child between the ages of 2 and 5. |
Children, Preschool,Preschool Child,Preschool Children |
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| D005260 |
Female |
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Females |
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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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| D000699 |
Pain Insensitivity, Congenital |
A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) |
Analgesia, Congenital,Pain Indifference, Congenital,Channelopathy-Associated Insensitivity To Pain,Congenital Analgesia,Congenital Indifference to Pain,Congenital Insensitivity To Pain,Congenital Pain Indifference,Congenital Pain Insensitivity,Insensitivity To Pain, Congenital,Insensitivity, Congenital Pain,Congenital Pain Indifferences |
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| D053447 |
Channelopathies |
A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS. |
Channelopathy |
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| D062556 |
NAV1.7 Voltage-Gated Sodium Channel |
A voltage-gated sodium channel subtype found widely expressed in nociceptive primary sensory neurons. Defects in the SCN9A gene, which codes for the alpha subunit of this sodium channel, are associated with several pain sensation-related disorders. |
Peripheral Sodium Channel 1,SCN9A Sodium Channel alpha Subunit,Type 9 Voltage-Gated Sodium Channel,Voltage-Gated Sodium Channel Type 9,Voltage-Gated Sodium Channel Type 9 Subunit alpha,NAV1.7 Voltage Gated Sodium Channel,Type 9 Voltage Gated Sodium Channel,Voltage Gated Sodium Channel Type 9,Voltage Gated Sodium Channel Type 9 Subunit alpha |
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