Orphanet classification: Rare infertility (ORPHA:98047)
Disorder type: Category
Subcategories and diseases:
Name: Rare male infertility
OrphaCode: 98048
DisorderType: Category
Children: Name: Male infertility due to obstructive azoospermia
OrphaCode: 98343
DisorderType: Category
Children: Name: Congenital bilateral absence of vas deferens
OrphaCode: 48
DisorderType: Morphological anomaly
Name: Rare disorder with obstructive azoospermia
OrphaCode: 399824
DisorderType: Category
Children: Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Primary genito-urinary tuberculosis
OrphaCode: 645874
DisorderType: Disease
Name: Leprosy
OrphaCode: 548
DisorderType: Disease
Name: Persistent Müllerian duct syndrome
OrphaCode: 2856
DisorderType: Malformation syndrome
Name: Young syndrome
OrphaCode: 3471
DisorderType: Disease
Name: Autosomal dominant polycystic kidney disease
OrphaCode: 730
DisorderType: Disease
Name: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
OrphaCode: 399572
DisorderType: Category
Children: Name: Prolactinoma
OrphaCode: 2965
DisorderType: Disease
Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Familial hyperprolactinemia
OrphaCode: 397685
DisorderType: Disease
Name: Rare male infertility due to adrenal disorder
OrphaCode: 399584
DisorderType: Category
Children: Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: ACTH-dependent Cushing syndrome
OrphaCode: 99892
DisorderType: Clinical group
Children: Name: Cushing disease
OrphaCode: 96253
DisorderType: Disease
Name: Cushing syndrome due to ectopic ACTH secretion
OrphaCode: 99889
DisorderType: Disease
Name: Cushing syndrome due to bilateral macronodular adrenocortical disease
OrphaCode: 189427
DisorderType: Disease
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Rare male infertility due to testicular endocrine disorder
OrphaCode: 399685
DisorderType: Category
Children: Name: Kennedy disease
OrphaCode: 481
DisorderType: Disease
Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: Rare disorder with hypergonadotropic hypogonadism
OrphaCode: 181441
DisorderType: Category
Children: Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OrphaCode: 2229
DisorderType: Malformation syndrome
Name: Primary hypergonadotropic hypogonadism-partial alopecia syndrome
OrphaCode: 2232
DisorderType: Disease
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Hypergonadotropic hypogonadism-cataract syndrome
OrphaCode: 2410
DisorderType: Malformation syndrome
Name: Mikati-Najjar-Sahli syndrome
OrphaCode: 2558
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Deafness-hypogonadism syndrome
OrphaCode: 90646
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Male infertility due to gonadal dysgenesis or sperm disorder
OrphaCode: 399764
DisorderType: Category
Children: Name: Male infertility due to gonadal dysgenesis
OrphaCode: 98313
DisorderType: Category
Children: Name: Testicular regression syndrome
OrphaCode: 983
DisorderType: Morphological anomaly
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Testicular agenesis
OrphaCode: 325124
DisorderType: Morphological anomaly
Name: Male infertility due to sperm disorder
OrphaCode: 399771
DisorderType: Category
Children: Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Male infertility with spermatogenesis disorder
OrphaCode: 399775
DisorderType: Category
Children: Name: Chromosome Y microdeletion
OrphaCode: 1646
DisorderType: Malformation syndrome
Name: Male infertility with spermatogenesis disorder due to single gene mutation
OrphaCode: 399786
DisorderType: Category
Children: Name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
OrphaCode: 399805
DisorderType: Disease
Name: Male infertility with teratozoospermia due to single gene mutation
OrphaCode: 399808
DisorderType: Disease
Children: Name: Male infertility due to acephalic spermatozoa
OrphaCode: 529970
DisorderType: Clinical subtype
Name: Male infertility due to large-headed multiflagellar polyploid spermatozoa
OrphaCode: 137893
DisorderType: Clinical subtype
Name: Male infertility due to globozoospermia
OrphaCode: 171709
DisorderType: Clinical subtype
Name: Male infertility due to sperm motility disorder
OrphaCode: 399813
DisorderType: Category
Children: Name: Primary ciliary dyskinesia
OrphaCode: 244
DisorderType: Disease
Name: Deafness-infertility syndrome
OrphaCode: 94064
DisorderType: Malformation syndrome
Name: Non-syndromic male infertility due to sperm motility disorder
OrphaCode: 276234
DisorderType: Disease
Name: Rare female infertility
OrphaCode: 98049
DisorderType: Category
Children: Name: Rare vaginal malformation
OrphaCode: 180151
DisorderType: Category
Children: Name: Vaginal atresia
OrphaCode: 65681
DisorderType: Morphological anomaly
Name: Isolated partial vaginal agenesis
OrphaCode: 96269
DisorderType: Morphological anomaly
Name: Septate vagina
OrphaCode: 180154
DisorderType: Morphological anomaly
Children: Name: Longitudinal vaginal septum
OrphaCode: 180157
DisorderType: Clinical subtype
Name: Transverse vaginal septum
OrphaCode: 180160
DisorderType: Clinical subtype
Name: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
OrphaCode: 399831
DisorderType: Category
Children: Name: Acromegaly
OrphaCode: 963
DisorderType: Disease
Name: Prolactinoma
OrphaCode: 2965
DisorderType: Disease
Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Estrogen resistance syndrome
OrphaCode: 785
DisorderType: Disease
Name: Familial hyperprolactinemia
OrphaCode: 397685
DisorderType: Disease
Name: Rare female infertility due to a congenital hypogonadotropic hypogonadism
OrphaCode: 399839
DisorderType: Category
Children: Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
OrphaCode: 399846
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Rare female infertility due to an adrenal disorder
OrphaCode: 399849
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: ACTH-dependent Cushing syndrome
OrphaCode: 99892
DisorderType: Clinical group
Children: Name: Cushing disease
OrphaCode: 96253
DisorderType: Disease
Name: Cushing syndrome due to ectopic ACTH secretion
OrphaCode: 99889
DisorderType: Disease
Name: Rare female infertility due to an anomaly of ovarian function
OrphaCode: 399853
DisorderType: Category
Children: Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: Insulin-resistance syndrome type A
OrphaCode: 2297
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 2
OrphaCode: 3143
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Rare female infertility due to gonadal dysgenesis
OrphaCode: 399877
DisorderType: Category
Children: Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Rare female infertility due to an implantation defect
OrphaCode: 399882
DisorderType: Category
Children: Name: Diethylstilbestrol syndrome
OrphaCode: 1916
DisorderType: Malformation syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Septate uterus
OrphaCode: 180122
DisorderType: Clinical group
Children: Name: Complete septate uterus
OrphaCode: 180126
DisorderType: Morphological anomaly
Name: Partial septate uterus
OrphaCode: 180129
DisorderType: Morphological anomaly
Name: Absence of uterine body
OrphaCode: 180142
DisorderType: Morphological anomaly
Name: Uterine cervical aplasia and agenesis
OrphaCode: 180145
DisorderType: Morphological anomaly
Name: Rare female infertility due to oocyte maturation defect
OrphaCode: 404469
DisorderType: Category
Children: Name: Female infertility due to oocyte meiotic arrest
OrphaCode: 488191
DisorderType: Disease
Name: Female infertility due to zona pellucida defect
OrphaCode: 404466
DisorderType: Disease