All terms in HP

Label Id Description
fatty acid 22:4 CHEBI_132542 [Any polyunsaturated fatty acid containing 22 carbons and 4 double bonds.]
renal system development GO_0072001 [The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels.]
Ductus venosus agenesis with extrahepatic drainage and liver bypass HP_6000370 [A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.]
Elevated CSF D-glyceric acid concentration HP_6000372 [The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.]
Elevated circulating D-glyceric acid concentration HP_6000371 [The concentration of D-gyceric acid in the blood circulation is above the upper limit of normal.]
Increased circulating interleukin 1beta concentration HP_6000374 [An increased concentration of interleukin-1beta in the blood circulation.]
Ameliorated by riboflavin HP_6000373 [Applies to a sign or symptom that is improved or made more bearable by ingestion of riboflavin (Vitamin B2).]
Intervertebral disk degeneration HP_0008419 [The presence of degenerative changes of intervertebral disk.]
Squared-off platyspondyly HP_0008418
Vertebral hypoplasia HP_0008417 [Small, underdeveloped vertebral bodies.]
Six lumbar vertebrae HP_0008416
Lumbar kyphosis in infancy HP_0008414
Lumbar kyphosis HP_0008454 [Over curvature of the lumbar region.]
Subungual hyperkeratotic fragments HP_0008410
bounding membrane of organelle GO_0098588 [The lipid bilayer that forms the outer-most layer of an organelle.]
pipecolate CHEBI_36110 [A piperidinecarboxylate that is the conjugate base of pipecolic acid.]
piperidinecarboxylate CHEBI_36109
Sixth cranial nerve hypoplasia HP_6000596 [Underdevelopment of the six cranial nerve (abducens nerve).]
Mandibular cyst HP_6000595 [A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material.]
Elevated urinary succinylacetone level HP_6000598 [Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).]