| D006973 |
Hypertension |
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
Blood Pressure, High,Blood Pressures, High,High Blood Pressure,High Blood Pressures |
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| D009369 |
Neoplasms |
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. |
Benign Neoplasm,Cancer,Malignant Neoplasm,Tumor,Tumors,Benign Neoplasms,Malignancy,Malignant Neoplasms,Neoplasia,Neoplasm,Neoplasms, Benign,Cancers,Malignancies,Neoplasias,Neoplasm, Benign,Neoplasm, Malignant,Neoplasms, Malignant |
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| D010523 |
Peripheral Nervous System Diseases |
Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. |
Peripheral Nerve Diseases,Peripheral Neuropathies,PNS (Peripheral Nervous System) Diseases,PNS Diseases,Peripheral Nervous System Disease,Peripheral Nervous System Disorders,Nerve Disease, Peripheral,Nerve Diseases, Peripheral,Neuropathy, Peripheral,PNS Disease,Peripheral Nerve Disease,Peripheral Neuropathy |
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| D004827 |
Epilepsy |
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) |
Aura,Awakening Epilepsy,Seizure Disorder,Epilepsy, Cryptogenic,Auras,Cryptogenic Epilepsies,Cryptogenic Epilepsy,Epilepsies,Epilepsies, Cryptogenic,Epilepsy, Awakening,Seizure Disorders |
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| D006453 |
Hemoglobinopathies |
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. |
Hemoglobinopathy |
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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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| D000141 |
Acidosis, Renal Tubular |
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS. |
Renal Tubular Acidosis,Renal Tubular Acidosis, Type I,Renal Tubular Acidosis, Type II,Type I Renal Tubular Acidosis,Type II Renal Tubular Acidosis,Acidosis, Renal Tubular, Type I,Acidosis, Renal Tubular, Type II,Autosomal Dominant Distal Renal Tubular Acidosis,Classic Distal Renal Tubular Acidosis,Distal Renal Tubular Acidosis,Proximal Renal Tubular Acidosis,RTA, Classic Type,RTA, Distal Type, Autosomal Dominant,RTA, Gradient Type,RTA, Proximal Type,Renal Tubular Acidosis 1,Renal Tubular Acidosis I,Renal Tubular Acidosis II,Renal Tubular Acidosis, Distal, Autosomal Dominant,Renal Tubular Acidosis, Proximal,Renal Tubular Acidosis, Proximal, with Ocular Abnormalities,Classic Type RTA,Classic Type RTAs,Gradient Type RTA,Gradient Type RTAs,Proximal Type RTA,Proximal Type RTAs,RTAs, Classic Type,RTAs, Gradient Type,RTAs, Proximal Type |
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| D061085 |
Agenesis of Corpus Callosum |
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity. |
Absence of Corpus Callosum,Corpus Callosum Agenesis,Corpus Callosum Dysgenesis,Corpus Callosum Hypogenesis,Corpus Callosum Malformation,Corpus Callosum, Agenesis Of,Ageneses, Corpus Callosum,Agenesis, Corpus Callosum,Corpus Callosum Absence,Corpus Callosum Absences,Corpus Callosum Ageneses,Corpus Callosum Dysgeneses,Corpus Callosum Hypogeneses,Dysgeneses, Corpus Callosum,Dysgenesis, Corpus Callosum,Hypogeneses, Corpus Callosum,Hypogenesis, Corpus Callosum |
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| D028021 |
Sodium-Potassium-Chloride Symporters |
A subclass of symporters that specifically transport SODIUM; POTASSIUM and CHLORIDE ions across cellular membranes in a tightly coupled electroneutrality process. |
NKCC Proteins,NKCCs,Sodium-Potassium-Chloride Cotransporters,Na(+), K(+), Cl(-)-Cotransporter,Na-K-Cl-Symporter,Na-K-Cl-Transporter,NaCl-KCl Cotransporter,NaK2Cl Symporter,Sodium, Potassium, Chloride-Cotransporter,Sodium-Potassium-Chloride Cotransporter,Cotransporter, NaCl-KCl,Cotransporter, Sodium-Potassium-Chloride,Na K Cl Symporter,Na K Cl Transporter,NaCl KCl Cotransporter,Sodium Potassium Chloride Cotransporter,Sodium Potassium Chloride Cotransporters,Sodium Potassium Chloride Symporters,Symporter, NaK2Cl |
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