All terms in HP

Label Id Description
Bird-like facies HP_0000320
positive regulation of response to external stimulus GO_0032103 [Any process that activates, maintains or increases the rate of a response to an external stimulus.]
Square face HP_0000321 [Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.]
Tibial bowing HP_0002982 [A bending or abnormal curvature of the tibia.]
Decreased circulating complement C9 concentration HP_0012308 [Concentration of the complement component C9 in the blood circulation below the lower limit of normal.]
Decreased circulating terminal complement component concentration HP_0033057 [Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.]
Spatulate ribs HP_0012307 [Ribs that are increased in width and taper to the posterior ends.]
Broad ribs HP_0000885 [Increased width of ribs]
Abnormal rib ossification HP_0012306 [An anomaly of the process of rib bone formation.]
Abnormal enchondral ossification HP_0003336 [An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.]
Abnormal rib morphology HP_0000772 [An anomaly of the rib.]
Coarctation of the descending aortic arch HP_0012305 [Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.]
Abnormal aortic arch morphology HP_0012303 [An anomaly of the arch of aorta.]
Cutaneous amyloidosis HP_0012309 [The presence of amyloid deposition in the superficial dermis.]
Amyloid deposition by anatomical site HP_0020015 [Amyloid deposition categorized according to the anatomical site of deposition.]
nephroblastomatosis MPATH_574 [Persistence of metanephrogenic blastema or its presence in the wrong place or at the wrong time. Associated with hyperplastic nephrogenic rests.]
developmental dysplasia MPATH_64 [Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth.]
Ureteral agenesis HP_0012300 [Failure of the ureter to undergo development.]
hydrogensulfate CHEBI_45696
Hypoplastic aortic arch HP_0012304 [Underdevelopment of the arch of aorta.]