| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormal external genitalia (HP:0000811) | Parent Node:
Abnormality of female external genitalia (HP:0000055) | Parent Node:
Ambiguous genitalia (HP:0000062) | ..Starting node
..Ambiguous genitalia, female (HP:0000061)
|
| Term ID: |
61 |
| Name: |
Ambiguous genitalia, female |
| Synonym: |
Ambiguous genitalia due to virilization; Atypical appearance of female genitals |
| Definition: |
Ambiguous genitalia in an individual with XX genetic gender. |
| Comments: |
|
| Reference: |
HP:0000061 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..Ambiguous genitalia, male (HP:0000033)
| ..Gonadal tissue inappropriate for external genitalia or chromosomal sex (HP:0003248)
| ..Ovotestis (HP:0012861)
| ..True hermaphroditism (HP:0010459)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 112 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040282 - Frequent | | | 23 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | . | | | 134 | | | | HP:0000061 | HP:0000061 | Ambiguous genitalia, female | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
Genes (9) :CYP11B1 CYP19A1 DHCR24 HSD3B2 MKS1 SRY TBX15 TNXB WT1
Diseases (10) :OMIM:202010 ORPHA:90795 ORPHA:91 OMIM:602398 ORPHA:90791 OMIM:249000 ORPHA:1772 OMIM:260660 OMIM:606408 OMIM:194080 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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