All terms in HP
| Label | Id | Description |
|---|---|---|
| Proximal muscle weakness in upper limbs | HP_0008997 | [A lack of strength of the proximal muscles of the arms.] |
| Agalactia | HP_0031109 | [Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.] |
| T-shaped uterus | HP_0031106 | [An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.] |
| Decreased fibular diameter | HP_0031107 | [Reduced width of the cross sectional diameter of the fibula.] |
| Insulin receptor antibody positivity | HP_0031104 | [The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.] |
| Decreased mobility 3rd-5th fingers | HP_0006169 | |
| Tubular metacarpal bones | HP_0006166 | |
| Prominent proximal interphalangeal joints | HP_0006167 | |
| Prominent interphalangeal joints | HP_0006237 | |
| Proportionate shortening of all digits | HP_0006165 | |
| Soft tissue swelling of interphalangeal joints | HP_0006162 | |
| Abnormal phalangeal joint morphology of the hand | HP_0006261 | |
| Enlarged metacarpophalangeal joints | HP_0006163 | |
| Flattened, squared-off epiphyses of tubular bones | HP_0006172 | |
| Chess-pawn distal phalanges | HP_0006170 | [A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.] |
| Increased antimullerian hormone level | HP_0031102 | [An elevation above the normal range of the antimullerian hormone in the circulation.] |
| Abnormal antimullerian hormone level | HP_0031101 | [Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.] |
| Decreased antimullerian hormone level | HP_0031103 | [A reduction below the normal range of the antimullerian hormone in the circulation.] |
| Decreased inhibin B level | HP_0031100 | [A reduced concentration of inhibin B in the blood.] |
| Abnormal circulating inhibin level | HP_0031099 | [Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.] |