All terms in HP
Label | Id | Description |
---|---|---|
Bifid scrotum | HP_0000048 | [Midline indentation or cleft of the scrotum.] |
Shawl scrotum | HP_0000049 | [Superior margin of the scrotum superior to the base of the penis.] |
Hypogonadotrophic hypogonadism | HP_0000044 | [Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).] |
Scrotal hypoplasia | HP_0000046 | |
Hypoplastic male external genitalia | HP_0000050 | [Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).] |
Long penis | HP_0000040 | [Penile length more than 2 SD above the mean for age.] |
Chordee | HP_0000041 | [Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.] |
Absent external genitalia | HP_0000042 | [Lack of external genitalia in a male or female individual.] |
Abnormal circulating ornithine concentration | HP_0012025 | [Deviation from the normal concentration of ornithine in the blood circulation.] |
Abnormality of amino acid metabolism | HP_0004337 | [Abnormality of an amino acid metabolic process.] |
Abnormality of serum amino acid level | HP_0003112 | [The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.] |
Hypergalactosemia | HP_0012024 | [Elevated concentration of galactose in the blood.] |
Galactosuria | HP_0012023 | [Elevated concentration of galactose in the urine.] |
Abnormal urine carbohydrate level | HP_0031979 | [Any deviation from the normal concentration of a carbohydrate in the urine.] |
Congenital portosystemic venous shunt | HP_0012022 | [A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).] |
Abnormality of the fetal cardiovascular system | HP_0010948 | [An abnormality of the fetal circulation system or fetal echocardiogram.] |
Abnormal urine hormone level | HP_0012029 | [An abnormal concentration of a hormone in the urine.] |
Abnormality of the endocrine system | HP_0000818 | [An abnormality of the endocrine system.] |
Hepatocellular adenoma | HP_0012028 | [A benign tumor of the liver of presumably epithelial origin.] |
Neoplasm of the liver | HP_0002896 | [A tumor (abnormal growth of tissue) of the liver.] |