All terms in HP

Label Id Description
Anti-ganglioside antibody positivity HP_0031810 [The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.]
Bullet-shaped distal toe phalanx HP_0010187 [An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.]
Abnormality of the epiphyses of the 5th finger HP_0009152 [Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.]
Anti-GM3 antibody positivity HP_0034133 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.]
Irregular epiphysis of the proximal phalanx of the 5th finger HP_0009199 [Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.]
Irregular epiphyses of the proximal phalanges of the hand HP_0010273
Curved distal toe phalanx HP_0010188 [A deviation from the normal straight form of one or more distal toe phalanges.]
D-glucose import GO_0046323 [The directed movement of the hexose monosaccharide D-glucose into a cell or organelle.]
D-glucose transmembrane transport GO_1904659 [The process in which D-glucose is transported across a membrane.]
Anti-GM4 antibody positivity HP_0034134 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.]
Aplasia/Hypoplasia of the distal phalanges of the toes HP_0010185 [Absence or underdevelopment of the distal phalanges of the toes.]
Absent toe HP_0010760 [Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.]
Anti-neurofascin-155 antibody positivity HP_0034135 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.]
Broad distal phalanx of the toes HP_0010186 [Increased width of the distal phalanx of toe of one or more toes.]
negative regulation of D-glucose import GO_0046325 [Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.]
regulation of D-glucose import GO_0046324 [Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.]
Anti-neurofascin 186 antibody positivity HP_0034136 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.]
Anti-contactin-1 antibody positivity HP_0034137 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.]
Anti-contactin-associated protein 1 antibody positivity HP_0034138 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.]
Osteolytic defects of the distal phalanges of the toes HP_0010189