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- Rare infertility ORPHA:98047
- Rare male infertility ORPHA:98048
- Male infertility due to obstructive azoospermia ORPHA:98343
- Congenital bilateral absence of vas deferens ORPHA:48
- Rare disorder with obstructive azoospermia ORPHA:399824
- Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder ORPHA:399572
- Prolactinoma ORPHA:2965
- Aromatase deficiency ORPHA:91
- Congenital hypogonadotropic hypogonadism ORPHA:174590
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism ORPHA:181387
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Laurence-Moon syndrome ORPHA:2377
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome ORPHA:2230
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome ORPHA:2560
- Woodhouse-Sakati syndrome ORPHA:3464
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Bardet-Biedl syndrome ORPHA:110
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- ANE syndrome ORPHA:157954
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Isolated follicle stimulating hormone deficiency ORPHA:52901
- Familial hyperprolactinemia ORPHA:397685
- Rare male infertility due to adrenal disorder ORPHA:399584
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- ACTH-dependent Cushing syndrome ORPHA:99892
- Cushing syndrome due to bilateral macronodular adrenocortical disease ORPHA:189427
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Rare male infertility due to testicular endocrine disorder ORPHA:399685
- Kennedy disease ORPHA:481
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency ORPHA:753
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- Rare disorder with hypergonadotropic hypogonadism ORPHA:181441
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Noonan syndrome ORPHA:648
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
- Proximal myotonic myopathy ORPHA:606
- X-linked adrenoleukodystrophy ORPHA:43
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome ORPHA:2232
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
- Hypergonadotropic hypogonadism-cataract syndrome ORPHA:2410
- Mikati-Najjar-Sahli syndrome ORPHA:2558
- Woodhouse-Sakati syndrome ORPHA:3464
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- Deafness-hypogonadism syndrome ORPHA:90646
- X-linked intellectual disability, Cilliers type ORPHA:163971
- X-linked intellectual disability, Van Esch type ORPHA:163976
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- Male infertility due to gonadal dysgenesis or sperm disorder ORPHA:399764
- Male infertility due to gonadal dysgenesis ORPHA:98313
- Testicular regression syndrome ORPHA:983
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 46,XX testicular difference of sex development ORPHA:393
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- 48,XYYY syndrome ORPHA:99329
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Testicular agenesis ORPHA:325124
- Male infertility due to sperm disorder ORPHA:399771
- Trichothiodystrophy ORPHA:33364
- Male infertility with spermatogenesis disorder ORPHA:399775
- Chromosome Y microdeletion syndrome ORPHA:1646
- Male infertility with spermatogenesis disorder due to single gene mutation ORPHA:399786
- Male infertility due to sperm motility disorder ORPHA:399813
- Rare female infertility ORPHA:98049
- Rare vaginal malformation ORPHA:180151
- Vaginal atresia ORPHA:65681
- Isolated partial vaginal agenesis ORPHA:96269
- Septate vagina ORPHA:180154
- Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder ORPHA:399831
- Acromegaly ORPHA:963
- Prolactinoma ORPHA:2965
- Aromatase deficiency ORPHA:91
- Estrogen resistance syndrome ORPHA:785
- Familial hyperprolactinemia ORPHA:397685
- Rare female infertility due to a congenital hypogonadotropic hypogonadism ORPHA:399839
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism ORPHA:399846
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Bardet-Biedl syndrome ORPHA:110
- Prader-Willi-like syndrome ORPHA:398073
- Rare female infertility due to an adrenal disorder ORPHA:399849
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- ACTH-dependent Cushing syndrome ORPHA:99892
- Rare female infertility due to an anomaly of ovarian function ORPHA:399853
- Tetrasomy X syndrome ORPHA:9
- Trisomy X syndrome ORPHA:3375
- Insulin-resistance syndrome type A ORPHA:2297
- Autoimmune polyendocrinopathy type 2 ORPHA:3143
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Classic galactosemia ORPHA:79239
- X small rings syndrome ORPHA:96201
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Rare female infertility due to gonadal dysgenesis ORPHA:399877
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- Perrault syndrome ORPHA:2855
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Rare female infertility due to an implantation defect ORPHA:399882
- Diethylstilbestrol syndrome ORPHA:1916
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Septate uterus ORPHA:180122
- Absence of uterine body ORPHA:180142
- Uterine cervical aplasia and agenesis ORPHA:180145
- Rare female infertility due to oocyte maturation defect ORPHA:404469