RGDs registry under the 'Reproductive disorders'
| Disorder Name (Total=7) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Autosomal recessive |
•Steroid 5-alpha-reductase 2 deficiency •46,XY DSD due to 5-alpha-reductase 2 deficiency • Pseudovaginal perineoscrotal hypospadias •Familial incomplete male pseudohermaphroditism, type 2 •Male pseudohermaphroditism due to 5-alpha-reductase deficiency |
Gonadal disorders |
SRD5A2 steroid 5 alpha-reductase 2 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 46,XY sex reversal 1 Autosomal dominant, Autosomal recessive, X-linked dominant, Y-linked |
•Swyer syndrome •46,XY complete gonadal dysgenesis •Pure gonadal dysgenesis 46,XY •46, XY CGD •46, XY pure gonadal dysgenesis •46,XY sex reversal •Gonadal dysgenesis, XY female type |
Sexual differenciation disorders |
SRY sex determining region Y SOX9 SRY-box transcription factor 9 DHX37 DEAH-box helicase 37 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hydatidiform mole, recurrent, 1 Autosomal recessive |
•Hydatidiform mole •HYDM1 •Hydatidiform moles •Hydatidiform mole, recurrent •Gestational trophoblastic disease •Complete hydatidiform mole •Hydatidiform mole, complete •Classical hydatidiform mole •Complete molar pregnancy •Hydatidiform moles •Molar pregnancy |
Placenta neoplasm |
NLRP7 NLR family pyrin domain containing 7 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| Mayer Rokitansky Kuster Hauser syndrome type 1 Autosomal dominant |
•MRKH syndrome type 1 •Mayer Rokitansky Küster hauser syndrome type 1 •Mayer-Rokitansky-Kuster-hauser syndrome type 1 •Mayer-rokitansky-Küster-Hauser syndrome type 1 •Mayer Rokitansky Küster Hauser syndrome type 1 •MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1 •MRKH |
GREB1L GREB1 like retinoic acid receptor coactivator |
Reports Updated as of Aug 17, 2026 |
PubMed | |
| Mayer-Rokitansky-Küster-Hauser syndrome type 2 Autosomal dominant |
•Klippel-Feil deformity, conductive deafness, and absent vagina •Atypical mrkh (mayer rokitansky kuster hauser) syndrome •Atypical mrkh syndrome •Mayer-rokitansky-kuster-hauser syndrome, type ii • mrkh syndrome type 2 •MRKH, type ii •Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome •Mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome •Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies •Murcs association •Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome |
- |
GREB1L GREB1 like retinoic acid receptor coactivator |
Reports Updated as of Aug 17, 2026 |
PubMed |
| Chondrodysplasia-pseudohermaphroditism syndrome Autosomal recessive |
•Nivelon Nivelon Mabille syndrome •Chondrodysplasia pseudohermaphrodism syndrome •Chondrodysplasia pseudohermaphroditism syndrome •Chondrodysplasia with disorder of sex development syndrome •Chondrodysplasia-disorder of sex development syndrome •Nivelon-nivelon-mabille syndrome •Pseudohermaphrodism and chondrodysplasia |
Gonadal disorders |
HHAT hedgehog acyltransferase |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 46,XY sex reversal 3 Autosomal dominant |
•46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure •46,xy sex reversal, partial or complete, nr5a1-related •Disorder of sex development, 46,xy, nr5a1-related •NR5AL-related 46,xy complete gonadal dysgenesis •Sex reversal, xy, with or without adrenal failure •SRXY3 |
Sexual differenciation disorders |
NR5A1 nuclear receptor subfamily 5 group A member 1 GATA4 GATA binding protein 4 |
Reports Updated as of Aug 17, 2026 |
PubMed |