| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 41
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000815 | Hypergonadotropic hypogonadism | Obligate (100%) |
| HP:0002293 | Alopecia of scalp | Obligate (100%) |
| HP:0008193 | Primary gonadal insufficiency | Obligate (100%) |
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000219 | Thin upper lip vermilion | Very frequent (99-80%) |
| HP:0000534 | Abnormal eyebrow morphology | Very frequent (99-80%) |
| HP:0000786 | Primary amenorrhea | Very frequent (99-80%) |
| HP:0000789 | Infertility | Very frequent (99-80%) |
| HP:0000802 | Impotence | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Very frequent (99-80%) |
| HP:0000837 | Increased circulating gonadotropin level | Very frequent (99-80%) |
| HP:0000938 | Osteopenia | Very frequent (99-80%) |
| HP:0000939 | Osteoporosis | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0001596 | Alopecia | Very frequent (99-80%) |
| HP:0003187 | Breast hypoplasia | Very frequent (99-80%) |
| HP:0003799 | Marked delay in bone age | Very frequent (99-80%) |
| HP:0005469 | Flat occiput | Very frequent (99-80%) |
| HP:0007464 | Sparse facial hair | Very frequent (99-80%) |
| HP:0008187 | Absence of secondary sex characteristics | Very frequent (99-80%) |
| HP:0008214 | Decreased serum estradiol | Very frequent (99-80%) |
| HP:0008230 | obsolete Decreased testosterone in males | Very frequent (99-80%) |
| HP:0008633 | Agonadism | Very frequent (99-80%) |
| HP:0008684 | Aplasia/hypoplasia of the uterus | Very frequent (99-80%) |
| HP:0010463 | Aplasia of the ovary | Very frequent (99-80%) |
| HP:0010464 | Streak ovary | Very frequent (99-80%) |
| HP:0011961 | Non-obstructive azoospermia | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000535 | Sparse and thin eyebrow | Frequent (79-30%) |
| HP:0001256 | Intellectual disability, mild | Frequent (79-30%) |
| HP:0002225 | Sparse pubic hair | Frequent (79-30%) |
| HP:0002652 | Skeletal dysplasia | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0002938 | Lumbar hyperlordosis | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0001199 | Triphalangeal thumb | Occasional (29-5%) |
| HP:0003393 | Thenar muscle atrophy | Occasional (29-5%) |
| HP:0006184 | Decreased palmar creases | Occasional (29-5%) |
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | Occasional (29-5%) |
| HP:0010487 | Small hypothenar eminence | Occasional (29-5%) |
| HP:0012506 | Small pituitary gland | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|