All terms in HP

Label Id Description
Sirenomelia HP_0010497 [A developmental defect in which the legs are fused together.]
Gastric xanthoma HP_0034468 [Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.]
Bipartite patella HP_0010498 [A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.]
Decreased stool elastase level HP_0034469 [Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency.]
sulfide CHEBI_26822 [Any sulfur molecular entity that involves either covalently bonded or anionic sulfur.]
Digital constriction ring HP_0010491 [A narrow segment of significantly reduced circumference of a digit.]
Osseous finger syndactyly HP_0010492 [Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones.]
Increased CSF uracil concentration HP_0034460 [An increased level of uracil in the cerebrospinal fluid.]
Abnormal palmar dermatoglyphics HP_0001018 [An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.]
Elevated urine kynurenine level HP_0034461 [An abnormally increased amount of kynurenine in the urine.]
vitamin K CHEBI_28384 [Any member of a group of fat-soluble 2-methyl-1,4-napthoquinones that exhibit biological activity against vitamin K deficiency. Vitamin K is required for the synthesis of prothrombin and certain other blood coagulation factors.]
1,4-naphthoquinones CHEBI_132142 [A naphthoquinone in which the oxo groups of the quinone moiety are at positions 1 and 4 of the parent naphthalene ring.]
Ameliorated by lumbar puncture HP_0034459 [Applies to a sign or symptom that is improved or made more bearable by lumbar puncture.]
Rectovesical fistula HP_0034451 [An aberrant, pathological communication between the rectum and the bladder.]
D-cysteine CHEBI_16375 [An optically active form of cysteine having D-configuration.]
cysteine CHEBI_15356 [A sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3.]
Rectoureteral fistula HP_0034452 [An abnormal connection (fistula) between the rectum and the ureter.]
Hypoplastic umbilicus HP_0034453 [Underdevelopment of the umbilicus.]
Abnormal umbilicus morphology HP_0001551 [An abnormality of the structure or appearance of the umbilicus.]
Arachnoid granulation HP_0034454 [Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.]