All terms in HP
Label | Id | Description |
---|---|---|
organic anionic group | CHEBI_64775 | [An anionic group that contains carbon.] |
molybdenum cofactor(2-) | CHEBI_60525 | [Molybdenum cofactor MoCo protonated to pH 7.3.] |
rate | PATO_0000161 | [A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time.] |
physical quality of a process | PATO_0002062 | |
alpha,beta-unsaturated monocarboxylic acid | CHEBI_79020 | [A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond.] |
Facial hypotonia | HP_0000297 | [Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).] |
Mask-like facies | HP_0000298 | [A lack of facial expression often with staring eyes and a slightly open mouth.] |
Loss of facial adipose tissue | HP_0000292 | [Loss of normal subcutaneous fat tissue in the face.] |
Adipose tissue loss | HP_0008887 | [A loss of adipose tissue.] |
Full cheeks | HP_0000293 | [Increased prominence or roundness of soft tissues between zygomata and mandible.] |
Low anterior hairline | HP_0000294 | [Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.] |
Abnormality of the frontal hairline | HP_0000599 | [An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.] |
Doll-like facies | HP_0000295 | [A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.] |
Abnormal adipose tissue morphology | HP_0009124 | [An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.] |
Abnormal circulating serine concentration | HP_0012278 | [Any deviation from the normal concentration of serine in the blood circulation.] |
Abnormal circulating serine family amino acid concentration | HP_0010894 | [Any deviation from the normal concentration of a serine family amino acid in the blood circulation.] |
Hypoglycinemia | HP_0012277 | [An abnormally reduced concentration of glycine in the blood.] |
Abnormal circulating glycine concentration | HP_0010895 | [Any deviation from the normal concentration of glycine in the blood circulation.] |
Digital flexor tenosynovitis | HP_0012276 | [Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.] |
Abnormal tendon morphology | HP_0100261 | [An abnormality of the structure or form of the tendons, also often called sinews.] |