All terms in HP

Label Id Description
Abnormality of the vertebral spinous processes HP_0008516
Beard and mustache distribution HP_6000423 [Applies to an abnormality whose distribution and appearance are located at regions of the male face covered by a beard or mustache.]
Aplasia/Hypoplasia of the vertebrae HP_0008515
Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts HP_6000426 [Activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts.]
Bilateral conductive hearing impairment HP_0008513 [A bilateral type of conductive hearing impairment.]
Glomerular fibronectin deposits HP_6000428 [Accumulation of fibronectin in the glomerulus.]
Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts HP_6000427 [Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts.]
Central posterior corneal opacity HP_0008511 [Reduced transparency of the central posterior portion of the corneal stroma.]
Renal tubular karyomegaly HP_6000429 [Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells.]
Facial nerve compression HP_6000411 [Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.]
Absence of acoustic reflex HP_0008529 [Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.]
Small intestine mass HP_6000410 [A swelling or enlargement localized to the small intestine. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.]
Long hairs growing from helix of pinna HP_0008528
Ectopic ureteral orifice HP_6000413 [Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare.]
Congenital sensorineural hearing impairment HP_0008527 [A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.]
Pulmonary perfusion defect HP_6000412 [Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.]
Intradural spinal lipoma HP_6000415 [Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.]
Duplicate uterine cervix HP_6000414 [A congenital developmental defect characterized by the presence of two cervices on the uterus.]
Inferior vena cava obstruction HP_6000417 [Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.]
Posterior helix pit HP_0008523 [Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.]