All terms in HP

Label Id Description
Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity HP_6000215 [The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal.]
presumptive pronephric mesoderm UBERON_0007297 [A presumptive structure that has the potential to develop into a pronephric mesoderm.]
Decreased 3-hydroxyisobutyrate dehydrogenase activity HP_6000214 [The activity of 3-hydroxyisobutyrate dehydrogenase in the blood circulation is below the lower limit of normal.]
Reduced circulating acyl-CoA oxidase activity HP_6000217 [The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal.]
Reduced HMG-CoA lyase activity in cultured fibroblasts HP_6000216 [Activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts.]
Cervical spine instability HP_0010646 [An abnormal lack of stability of the cervical spine.]
Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts HP_6000219 [The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal.]
Reduced circulating xanthine oxidase activity HP_6000218 [Activity of the enzyme xanthine oxidase (EC 1.17.3.2) below the lower limit of normal.]
Midnasal stenosis HP_0010644 [Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.]
Abnormality of the midnasal cavity HP_0010641 [Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.]
white matter of forebrain UBERON_0019261 [A white matter that is part of the forebrain.]
Dermal translucency HP_0010648 [An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.]
Flat nasal alae HP_0010649 [An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).]
gray matter of midbrain UBERON_0019267
brain gray matter UBERON_0003528 [A gray matter that is part of a brain [Automatically generated definition].]
Short distal phalanx of the thumb HP_0009650 [Hypoplastic (short) distal phalanx of the thumb.]
gray matter of forebrain UBERON_0019264
gray matter of hindbrain UBERON_0019263
Midnasal atresia HP_0010643 [Absence or abnormal closure of the midnasal cavity.]
white matter of myelencephalon UBERON_0019262 [A white matter that is part of the myelencephalon.]