| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
16959810 |
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ. Hum Reprod. 2007;22(1):224-9. |
| Hirsutism | ||
| WNT4 | ||
| p|SUB|R|83|C;RS#:121908652 rs121908652 | ||
| Adult Amino Acid Sequence Amino Acid Substitution Child Child, Preschool Females Gonadal Dysgenesis Homo sapiens Infant Kidney Molecular Sequence Data Ovary Phenotype Proto-Oncogene Proteins Sequence Alignment Syndrome Tumor Cells, Cultured Uterus Wnt Proteins Wnt4 Protein |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000013 | Hypoplasia of the uterus | Very frequent (99-80%) |
| HP:0000142 | Abnormal vagina morphology | Very frequent (99-80%) |
| HP:0000786 | Primary amenorrhea | Very frequent (99-80%) |
| HP:0001007 | Hirsutism | Very frequent (99-80%) |
| HP:0001061 | Acne | Very frequent (99-80%) |
| HP:0002292 | Frontal balding | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0009890 | High anterior hairline | Very frequent (99-80%) |
| HP:0009937 | Facial hirsutism | Very frequent (99-80%) |
| HP:0030088 | Increased serum testosterone level | Very frequent (99-80%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0000104 | Renal agenesis | Occasional (29-5%) |
| HP:0000137 | Abnormality of the ovary | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000574 | Thick eyebrow | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000914 | Shield chest | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0002967 | Cubitus valgus | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|