| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
18391513 |
Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus. Temel SG, Gulten T, Yakut T, Saglam H, Kilic N, Bausch E, Jin WJ, Leipoldt M, Scherer G. Sex Dev. 2007;1(1):24-34. |
| Sex reversal | ||
| SOX9 SRY | ||
| Adult Child Child, Preschool Cytogenetic Analysis Disorders of Sex Development Doublecortin Domain Proteins Females Gene Expression Regulation Haplotypes High Mobility Group Proteins Homo sapiens Hormones Male Microtubule-Associated Proteins Mutation Neuropeptides Reverse Transcriptase Polymerase Chain Reaction SOX9 Transcription Factor Sex-Determining Region Y Protein Testis |
Total: 14
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000008 | Abnormality of female internal genitalia | Very frequent (99-80%) |
| HP:0000022 | Abnormality of male internal genitalia | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000046 | Scrotal hypoplasia | Very frequent (99-80%) |
| HP:0000047 | Hypospadias | Very frequent (99-80%) |
| HP:0000048 | Bifid scrotum | Very frequent (99-80%) |
| HP:0000062 | Ambiguous genitalia | Very frequent (99-80%) |
| HP:0000130 | Abnormality of the uterus | Very frequent (99-80%) |
| HP:0000144 | Decreased fertility | Very frequent (99-80%) |
| HP:0000147 | Polycystic ovaries | Very frequent (99-80%) |
| HP:0008736 | Hypoplasia of penis | Very frequent (99-80%) |
| HP:0010459 | True hermaphroditism | Very frequent (99-80%) |
| HP:0012856 | Abnormal scrotal rugation | Very frequent (99-80%) |
| HP:0100779 | Urogenital sinus anomaly | Very frequent (99-80%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|