| HPO |
HP:0002921 |
Abnormality of the cerebrospinal fluid |
"An abnormality of the cerebrospinal fluid (CSF)." [HPO:probinson] |
The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). |
HP:0002011 |
| HPO |
HP:0002922 |
Increased CSF protein |
"Increased concentration of protein in the cerebrospinal fluid." [KI:phemming, PMID:29114301] |
— |
HP:0025456 |
| HPO |
HP:0002923 |
Rheumatoid factor positive |
"The presence in the serum of an autoantibody directed against the Fc portion of IgG." [HPO:probinson] |
— |
HP:0030057 |
| HPO |
HP:0002924 |
obsolete Decreased circulating aldosterone level |
— |
— |
— |
| HPO |
HP:0002925 |
Elevated circulating thyroid-stimulating hormone concentration |
"Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation." [DDD:spark] |
— |
HP:0031097 |
| HPO |
HP:0002926 |
Abnormality of thyroid physiology |
"An abnormal functionality of the thyroid gland." [HPO:probinson] |
— |
HP:0000820 |
| HPO |
HP:0002927 |
Histidinuria |
"An increased concentration of histidine in the urine." [HPO:probinson, PMID:18901181, PMID:20240447] |
Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. |
HP:0033100 |
| HPO |
HP:0002928 |
Decreased activity of the pyruvate dehydrogenase complex |
— |
— |
HP:0003287 |
| HPO |
HP:0002929 |
Leydig cell insensitivity to gonadotropin |
— |
— |
HP:0008373 |
| HPO |
HP:0002930 |
Impaired sensitivity to thyroid hormone |
"Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone." [DDD:spark, PMID:24847459] |
Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4. |
HP:0002926 |
| HPO |
HP:0002932 |
Aldehyde oxidase deficiency |
"A reduction in aldehyde oxidase level." [HPO:probinson] |
Aldehyde oxidase generates carboxylic acids from aldehydes. |
HP:0012379 |
| HPO |
HP:0002933 |
Ventral hernia |
"Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall." [HPO:probinson, HPO:skoehler] |
— |
HP:0004299 |
| HPO |
HP:0002936 |
Distal sensory impairment |
"An abnormal reduction in sensation in the distal portions of the extremities." [HPO:probinson] |
— |
HP:0003474 |
| HPO |
HP:0002937 |
Hemivertebrae |
"Absence of one half of the vertebral body." [HPO:probinson] |
Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. |
HP:0003312, HP:0003422 |
| HPO |
HP:0002938 |
Lumbar hyperlordosis |
"An abnormal accentuation of the inward curvature of the spine in the lumbar region." [HPO:probinson] |
— |
HP:0003307 |
| HPO |
HP:0002942 |
Thoracic kyphosis |
"Over curvature of the thoracic region, leading to a round back or if sever to a hump." [HPO:probinson] |
— |
HP:0002808, HP:0100711 |
| HPO |
HP:0002943 |
Thoracic scoliosis |
— |
— |
HP:0002650, HP:0100711 |
| HPO |
HP:0002944 |
Thoracolumbar scoliosis |
— |
— |
HP:0002650 |
| HPO |
HP:0002945 |
Intervertebral space narrowing |
"Decreased height of the intervertebral disk." [HPO:probinson] |
A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. |
HP:0005108 |
| HPO |
HP:0002946 |
Supernumerary vertebrae |
— |
— |
HP:0009144, HP:0030304 |
| HPO |
HP:0002947 |
Cervical kyphosis |
"Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [HPO:probinson] |
— |
HP:0002808, HP:0005905 |
| HPO |
HP:0002948 |
Vertebral fusion |
"A developmental defect leading to the union of two adjacent vertebrae." [HPO:probinson] |
— |
HP:0003422, HP:0100240 |
| HPO |
HP:0002949 |
Fused cervical vertebrae |
"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another." [] |
— |
HP:0002948 |
| HPO |
HP:0002951 |
Partial absence of cerebellar vermis |
"Congenital absence of a part of the vermis of cerebellum." [HPO:probinson] |
— |
HP:0006817 |
| HPO |
HP:0002953 |
Vertebral compression fracture |
— |
— |
HP:0003468 |