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Gene: Fkbp4 MGI:95543

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Gene Summary

Name:
FK506 binding protein 4
Synonyms:
FKBP52,  FKBP-52

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
prolonged RR interval Fkbp4em1(IMPC)Mbp HOM Early adult 1.06×10-05
female infertility Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
absent testes Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
male infertility Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Fkbp4em1(IMPC)Mbp HOM Early adult 7.12×10-05
decreased mean corpuscular volume Fkbp4em1(IMPC)Mbp HOM Early adult 1.21×10-05
small testis Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal cholesterol homeostasis Fkbp4em1(IMPC)Mbp HOM Early adult 2.47×10-06
abnormal body wall morphology Fkbp4em1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Fkbp4em1(IMPC)Mbp HET E18.5 0.00
abnormal placenta morphology Fkbp4em1(IMPC)Mbp HET E18.5 0.00
abnormal spleen morphology Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
enlarged epididymis Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Fkbp4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal male genitalia morphology Fkbp4em1(IMPC)Mbp HOM Early adult 2.01×10-14
no spontaneous movement Fkbp4em1(IMPC)Mbp HOM E18.5 0.00
small spleen Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
cataract Fkbp4em1(IMPC)Mbp HOM Early adult 7.52×10-05
abnormal skin morphology Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
decreased heart rate Fkbp4em1(IMPC)Mbp HOM Early adult 2.51×10-05
small epididymis Fkbp4em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Fkbp4em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Gross Morphology Embryo E18.5

Images

9 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Fkbp4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fkbp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hy... ORPHA:752
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Female external genitalia in individual with 46,XY karyotype, Infertility, Male pseudohermaphrodi... OMIM:264300
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Seconda... ORPHA:755
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Abnormal male external genital... OMIM:400044
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Frasier Syndrome
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn... OMIM:136680
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogona... OMIM:614840
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Renal insufficiency, Focal segmental glomerulosclerosi... ORPHA:347
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism OMIM:202110
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Deleted in azoospermia
Azoospermia OMIM:400003
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
15q24 recurrent microdeletion syndrome
Short stature, Hypospadias, Small for gestational age DECIPHER:66
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:620548
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall... OMIM:615542
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Decrease... ORPHA:90796
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Hypogonadism, Hypoplasia of penis ORPHA:85274
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Image Syndrome
Hydronephrosis, Hypospadias, Hypogonadism, Cryptorchidism ORPHA:85173
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Elevated circulating... OMIM:250790
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Denys-Drash Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Nephrotic syndrome, Proteinuria, Nephroblastoma, ... ORPHA:220
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
7P22.1 Microduplication Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:314034
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Short s... ORPHA:247768
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Bifid scrotum, Male pseudohermaphroditism ORPHA:1552
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Short stature, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Bifid scrotum, Abs... OMIM:201810
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed puberty, Hypospadias, Hypoplasia of penis, Nephrolithiasis, Short stature, Decreased fert... ORPHA:1816
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Male hypogonadism, Hypospadias, Hypergonadotropic hypog... ORPHA:163971
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Male hypogonadism, Hypergonadotropic... ORPHA:163976
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Short stature, Hypogonadism, Intrauterine growth retardation, Abdomina... OMIM:300869
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:168558
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... OMIM:617442
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:289548
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Hypospadias 2, X-Linked
Penoscrotal hypospadias OMIM:300758
Hypospadias 1, X-Linked
Perineal hypospadias OMIM:300633
Hypospadias 3, Autosomal
Hypospadias OMIM:146450
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Genitopalatocardiac Syndrome
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism, Multicystic ki... ORPHA:2075
Bardet-Biedl Syndrome 8
Renal dysplasia, Obesity, Hypospadias, Hypogonadism OMIM:615985
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Abnormality of the testis ... ORPHA:261534
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Abnormality of the endocrine system, Bifid scrotum, Cryptorchidism, Pe... OMIM:264600
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Hypogonadism ORPHA:261483
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Short stature, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, M... OMIM:612626
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Cleft palate, Intraut... ORPHA:96181
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Micropenis OMIM:300067
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, D... OMIM:618815
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypospadias ORPHA:1355
16P11.2P12.2 Microduplication Syndrome
Cleft palate, Hypospadias ORPHA:261204
Mccune-Albright Syndrome
Decreased fertility, Increased serum testosterone level, Irregular menstruation, Renal phosphate ... ORPHA:562
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Azoospermia OMIM:615703
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Obesity, Hypogonadism, Primary amenorrhea, Mic... OMIM:614962
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:275400
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Infertility OMIM:604931
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Short stature, Eunuchoid habitus, Obesity, Type I... ORPHA:2234
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex... OMIM:613762
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypog... OMIM:610628
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperinsulinemia, S... ORPHA:769
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Hypospadias ORPHA:1548
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Hypospadias, Bifid scrotum, Microphallus, Hypothyroidism, Abnormal ... ORPHA:397590
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, Hypogonadism ORPHA:3363
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:612702
Abruzzo-Erickson Syndrome
Short stature, Cleft palate, Hypospadias OMIM:302905
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Male pseudohermaphroditism, Shawl scrotum, Cryptorchidism, Micropenis ORPHA:2282
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614880
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypospadias, Hypoplasia of penis ORPHA:1381
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Urinary incontinence, Infertility, Decreased testicular size, Red... ORPHA:320391
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Mosaic Trisomy 14
Hypospadias, Hypoplasia of penis, Ectopic anus, High palate, Failure to thrive, Cleft palate, Cry... ORPHA:1703
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ... ORPHA:456328
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infections, Male pseudohe... ORPHA:847
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Polymicrogyria, Decreased testicular size, Simplified gyral pattern, Hypogonadism, C... OMIM:300354
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias ORPHA:3080
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... OMIM:614732
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Abnormality of the endocrine system, Bifid scrotum, Androgen insufficiency, A... ORPHA:95706
Chondrodysplasia-Difference Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Hypospadias, Glandular hypospadias, Bifid scrotum, Bilateral cryptorch... OMIM:300219
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
Otoonychoperoneal Syndrome
Hypospadias OMIM:259780
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3459
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Young Syndrome
Azoospermia OMIM:279000
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Cryptorchidism, Hypospadias OMIM:300997
Lambert Syndrome
Hypospadias OMIM:245550
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypog... OMIM:244200
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Cryptorchidism, Hypospadias, Small for gestational age OMIM:620135
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Fasting... ORPHA:2298
Spina Bifida-Hypospadias Syndrome
Hypospadias ORPHA:3176
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Kennedy Disease
Decreased fertility, Erectile dysfunction, Testicular atrophy ORPHA:481
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Omodysplasia 2
Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidis... OMIM:164745
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Abnormality of the kidn... ORPHA:1772
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Sple... OMIM:602390
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Hypospadi... ORPHA:96179
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Short stature, Renal hypoplasia/aplasia, Hypospadias, Renal dysplasia ORPHA:2508
Laurence-Moon Syndrome
Hypoplasia of penis, Short stature, Obesity, Displacement of the urethral meatus, Type II diabete... ORPHA:2377
Phenobarbital Embryopathy
Hypospadias ORPHA:1919
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Hypospadias OMIM:300934
Lambert Syndrome
Intrauterine growth retardation, Failure to thrive in infancy, Hypospadias ORPHA:1296
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis ORPHA:1672
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... ORPHA:237
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Failu... OMIM:191800
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Renal cyst, Obesity, Vaginal atresia, Diabetes mellitus OMIM:605231
Wagr Syndrome
Short stature, Obesity, Displacement of the urethral meatus, Ambiguous genitalia, Cryptorchidism ORPHA:893
Serkal Syndrome
Abnormality of the adrenal glands, Hypospadias, Hypoplasia of the bladder, Growth delay, Renal ag... ORPHA:139466
Crandall Syndrome
Abnormal testis morphology, Hypogonadism, Hypoplasia of penis ORPHA:202
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Bradycardia, Cardiomyopathy, Hypogonadism, Arrhythmia, Cataract,... OMIM:609286
Abruzzo-Erickson Syndrome
Cryptorchidism, Coronal hypospadias, Hypospadias, Abnormal localization of kidney ORPHA:921
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, 3-Methylglutaconic aciduria, Hypospadias, Decreased testicular size... OMIM:610198
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... ORPHA:457083
Cleft Palate-Large Ears-Small Head Syndrome
Short stature, Cleft palate, Hypospadias ORPHA:2013
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Silver-Russell Syndrome 3
Postnatal growth retardation, Penoscrotal hypospadias, Decreased body weight, Unilateral cryptorc... OMIM:616489
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiom... OMIM:235200
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Campomelic Dysplasia
Ambiguous genitalia, Hydronephrosis, Male pseudohermaphroditism ORPHA:140
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Lissencephaly, Cryptorchidism, Rena... ORPHA:281090
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Decreased testicular size, Hypogonadism, Primary amenorrhea OMIM:229070
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovari... ORPHA:3085
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, ... OMIM:613313
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Retinal degeneration, Bradycardia OMIM:617173
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Chromosome 16Q22 Deletion Syndrome
Postnatal growth retardation, Hypospadias, High palate, Growth delay, Failure to thrive, Cryptorc... OMIM:614541
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Short stature, Growth delay, Microglossia, Small for gestational age OMIM:606744
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
Congenital Short Bowel Syndrome
Intestinal malrotation, Intestinal hypoplasia, Displacement of the urethral meatus, Short stature ORPHA:2301
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Micropenis, Bilateral cryptorchidism OMIM:300982
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Meacham Syndrome
Blind vagina, Stillbirth, Enlarged kidney, Bicornuate uterus, Male pseudohermaphroditism, Neonata... OMIM:608978
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Abnormal... OMIM:180860
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R... ORPHA:2842
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Renal hypoplasia/aplasia, Anterior hypopituitarism, Cryptorchidism ORPHA:2863
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Infertility, Oligozoospermia, Female pseudohermaphroditism, Precocious puber... ORPHA:786
Genitopalatocardiac Syndrome
Cleft palate, Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Meckel Syndrome
Ureteral duplication, Pancreatic fibrosis, Pancreatic cysts, Male pseudohermaphroditism, True her... ORPHA:564
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Hypospadias, Short stature, Growth delay, Bifid uvula, Intrauterine growth r... ORPHA:2872
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Hypospadias, Cryptorchidism OMIM:619718
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Obesity, Intrauterine growth retardation,... OMIM:614613
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Decreased ... ORPHA:543
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Elevated circulating follicle stimulating hormone level, Pr... OMIM:616185
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology, Abnormal testi... ORPHA:2556
Prune Belly Syndrome
Decreased fertility, Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urin... ORPHA:2970
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Hypergon... ORPHA:2959
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:147950
Ciliary Dyskinesia, Primary, 37
Goiter, Female infertility OMIM:617577
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Left ventricular hypertrophy, Hepatic steatosis OMIM:619048
Diphallia
Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc... ORPHA:227
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Short stature, Failure to thrive, Cleft palate, Elevat... OMIM:305400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Short stature, Hypospadias, Growth delay OMIM:619759
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Alg6-Cdg
Protein-losing enteropathy, Failure to thrive, Increased circulating androgen concentration, Macr... ORPHA:79320
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Dysplastic teste... OMIM:608800
Renpenning Syndrome
High, narrow palate, Hypospadias, Cachexia, Anal atresia, Decreased testicular size, Growth delay... ORPHA:3242
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Nocturia, Female sexual dysfunction ORPHA:2073
Mitochondrial Dna Depletion Syndrome 19
Hypospadias, Hydrocele testis OMIM:618972
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis ORPHA:171839
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism OMIM:608540
15Q24 Microdeletion Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:94065
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Mirage Syndrome
Hypospadias, Recurrent urinary tract infections, Adrenal hypoplasia, Decreased body weight, Micro... OMIM:617053
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Impotence, Adren... ORPHA:91354
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidism, Pyelonephr... OMIM:314300
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Failure to thrive, Short stature, Hypogonadism, Decreased serum testos... OMIM:201100
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Tonne-Kalscheuer Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias OMIM:300978
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Hypospadias OMIM:618330
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Shawl scrotum, Cryptorchidism, Micropenis, Pineal cyst OMIM:617516
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Hypospadias, Bifid scrotum, Short stature, Cleft palate, Pachygyria ORPHA:66629
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias ORPHA:2252
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Silver-Russell Syndrome
Postnatal growth retardation, Hypospadias, Abnormal vagina morphology, Abnormal male external gen... ORPHA:813
Seckel Syndrome 5
Clitoral hypertrophy, Abnormal cortical gyration, Hypospadias, Simplified gyral pattern, Cryptorc... OMIM:613823
Culler-Jones Syndrome
Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Cryptorchidism, Micropenis, Ectopic... OMIM:615849
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Premature ovarian insufficiency, Unilateral renal agenesis, Hypospadia... ORPHA:363444
Mmep Syndrome
Cryptorchidism ORPHA:3434
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Hypospadias OMIM:218350
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot... OMIM:140000
Intellectual Developmental Disorder, X-Linked 99
Intrauterine growth retardation, Ectopic kidney, Hypospadias OMIM:300919
Fetal Trimethadione Syndrome
Intrauterine growth retardation, Ambiguous genitalia, High palate, Hypospadias ORPHA:1913
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Trisomy X
Premature ovarian insufficiency, Renal hypoplasia/aplasia, Secondary amenorrhea, Precocious puber... ORPHA:3375
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias OMIM:301045
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Adrenal Hypoplasia, Congenital
Renal salt wasting, Azoospermia, Oligozoospermia, Precocious puberty, Cryptorchidism, Hypogonadot... OMIM:300200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Fg Syndrome 5
Hypospadias OMIM:300581
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Isolated Hemihyperplasia
Nephroblastoma, Cryptorchidism ORPHA:2128
Kerion Celsi
Lymphadenopathy ORPHA:499
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Hypospadias, Congenital adrenal hypoplasia... OMIM:618336
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Erectile dysfunction, Elevated jugular venous ... ORPHA:465508
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cryptorchidism OMIM:250951
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Precocious p... ORPHA:254516
Megalencephaly
Truncal obesity, Macroorchidism, Long penis ORPHA:2477
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Precocious puberty, Hypogonadism, Cryptorchidism ORPHA:3306
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias OMIM:618688
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Long penis, High palate, Precocious puberty, Short statur... OMIM:262190
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis, Simplified gyral pattern OMIM:619180
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, Rhizomelia, High palate, Decreased body weight, Short stature, Failure t... OMIM:617164
Ichthyosis, X-Linked
Testicular neoplasm, Cryptorchidism OMIM:308100
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Shawl scrotum, Nephrotic syndrome, Hypospadias ORPHA:2575
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, High palate, Short stature, Failure to thrive, Cryptorchidism ORPHA:98791
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Myotonic Dystrophy 1
Atrial flutter, Cholelithiasis, Atrial fibrillation, Hypogonadism, Cataract, First degree atriove... OMIM:160900
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Three M Syndrome 1
Postnatal growth retardation, Hypospadias, Decreased testicular size, Growth delay, Short stature... OMIM:273750
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology... ORPHA:2315
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Hepatosplenomegaly OMIM:232500
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru... ORPHA:83628
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Cryptorchidism, Hypospadias, Abnormality of the kidney ORPHA:1194
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Diffuse... OMIM:617575
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Kallmann Syndrome
Decreased fertility, Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasi... ORPHA:478
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Abnormality of the urinary system, Decreased serum testosterone ... ORPHA:101006
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Intrauterine growth retardation, Decreased response to gr... ORPHA:3455
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Vesicoureteral reflux, Periventricular nodular heterotopia, Cryptorchidism, Renal at... OMIM:618659
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Ascites, Le... ORPHA:99827
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Hypoplastic male external genitalia, Cryptorchidism OMIM:618823
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Methimazole Embryofetopathy
Esophageal atresia, Hypospadias, Tracheoesophageal fistula, Hypothyroidism, Abnormality of the th... ORPHA:1923
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Decreased testicular size, Hypogonadism, Small scrotum, Cryptorchidism ORPHA:127
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Sheehan Syndrome
Normochromic anemia, Bradycardia, Dyspareunia, Impotence, Decreased circulating cortisol level, C... ORPHA:91355
Squalene Synthase Deficiency
Hypospadias, Polymicrogyria, Elevated urine mesaconic acid level, Bilateral cryptorchidism, Eleva... OMIM:618156
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Spondylometaphyseal Dysplasia, Axial
Short stature, Rhizomelia, Reduced sperm motility, Disproportionate short-trunk short stature OMIM:602271
Caudal Duplication
Ureteral duplication, Renal hypoplasia/aplasia, Intestinal duplication, Cryptorchidism, Uterus di... ORPHA:1756
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h... OMIM:616113
Progeroid Short Stature With Pigmented Nevi
Delayed puberty, Premature ovarian insufficiency, Hypospadias, Short stature, Esophageal ulcerati... OMIM:176690
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Acrofrontofacionasal Dysostosis 2
Hypospadias, High palate, Bifid scrotum, Short stature, Shawl scrotum OMIM:239710
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Cryptorchidism, Hypospadias ORPHA:500159
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Postnatal growth retardation, Hypospadias ORPHA:79350
Familial Glucocorticoid Deficiency
Renal salt wasting, Azoospermia, Recurrent urinary tract infections, Decreased circulating dehydr... ORPHA:361
Harrod Syndrome
Hypospadias, High palate, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Mul... ORPHA:2115
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Cree Mental Retardation Syndrome
Cryptorchidism, Bifid scrotum, Hypospadias OMIM:606851
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Abnormal cortical gyration, Hypospadias, Hypoplastic nippl... OMIM:177980
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypop... OMIM:603457
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Renal dysplasia, Cryptorchidism, Hypospadias OMIM:300004
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, ... ORPHA:85450
Autosomal Recessive Amelia
Small scrotum, Cryptorchidism, Hypoplasia of penis ORPHA:1027
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Myhre Syndrome
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Precocious puberty, Hypogon... ORPHA:2588
Rin2 Syndrome
Premature ovarian insufficiency, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:217335
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Decr... ORPHA:95717
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Bifid scrotum, Growth delay, Failure to thrive, Intrauterine growth retard... ORPHA:217346
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Hypospadias, Cryptorchidism ORPHA:2505
Isolated Epispadias
Epispadias, Bifid clitoris, Urinary incontinence, Vesicoureteral reflux, Anteriorly displaced ure... ORPHA:93928
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias ORPHA:544254
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, Polymicrogyria, High palate, Ankyloglossia, Short stature, F... OMIM:618874
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Hyposthenuria, Pituitary hypo... ORPHA:95512
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Tubulointerstitial nephriti... ORPHA:330015
Arthrogryposis Multiplex Congenita 6
Neonatal death, Hypospadias OMIM:619334
Gray Platelet Syndrome
Epistaxis, Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Abnormality of neuronal migration, Cryptorchidism, Hypoplasia of penis ORPHA:2772
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:619761
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Abnormal cortical gyration, Esophageal atresia, Rectovaginal fistula, M... ORPHA:2538
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias OMIM:615761
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, H... ORPHA:95513
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Prolonged QT interval, Hyperinsulinemia, Bradycardia, Atrial ... OMIM:613327
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... OMIM:613673
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Neonatal death OMIM:615524
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome... OMIM:613101
Sickle Cell Anemia
Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr... ORPHA:232
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Simplified gyral pattern, Hypospadias, Small for gestational age OMIM:618253
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Siderobl... OMIM:222300
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Ascites, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Intestinal hypoplasia, Pancreatic h... OMIM:601346
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Maturity-onset diabetes of the young, High palate, Precocious puber... ORPHA:96184
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Supernumerary nipple, Hypospadias OMIM:618109
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Keratoconus, Ventricular escape rhythm, Arrhythmia, Prolonged P... ORPHA:542306
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Stt3A-Cdg
Small scrotum, Cryptorchidism, Micropenis ORPHA:370921
Galactokinase Deficiency
Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, ... ORPHA:79237
Triploidy
Hypospadias, Hypoplasia of penis, Intestinal malrotation, Cleft palate, Intrauterine growth retar... ORPHA:3376
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, Decreased testicular s... OMIM:610644
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... ORPHA:95716
Vacterl/Vater Association
Hypospadias, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Tracheoesophageal fistula, Anal ... ORPHA:887
Craniofrontonasal Dysplasia
Shawl scrotum, Hypospadias ORPHA:1520
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Con... ORPHA:3392
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Delayed puberty, Hypospadias, Short stature, Chordee, Type II diabetes mellitus, Intrauterine gro... OMIM:618891
Stt3B-Cdg
Small scrotum, Cryptorchidism, Micropenis ORPHA:370924
Juberg-Hayward Syndrome
Hypospadias, Severe short stature, Intrauterine growth retardation, Anteriorly placed anus, Horse... ORPHA:2319
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Polymicrogyria, Cryptorchidism, Hypospadias ORPHA:457485
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypoplastic labia minora,... ORPHA:398079
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Hypothyroidism, Atrioventric... OMIM:601005
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Splenic rupture, Develo... ORPHA:335
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimu... ORPHA:3044
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Bradycardia, Cardiomyopathy, Cardiac arrest, Premature ventricular contraction, Hyp... OMIM:212138
Chromosome 19Q13.11 Deletion Syndrome, Distal
Postnatal growth retardation, Hypospadias, Bifid scrotum, Short stature, Growth delay, Failure to... OMIM:613026
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Long penis, Hypoplasia of the thymus, Short stat... OMIM:264090
Teebi Hypertelorism Syndrome 2
Cleft palate, High palate, Hypospadias OMIM:619736
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Congenital Toxoplasmosis
Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Abnormality of retinal pigmentation, Th... ORPHA:858
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:168593
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Neonatal death, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Micropenis OMIM:615597
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic... ORPHA:353298
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Hypospadias, Hypoplasia of penis, Tracheoesophageal fistula, Growth delay, Cr... ORPHA:77298
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Cryptorchidism, Hypogonadism ORPHA:228390
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hypospadias, Abnormality of the ureter ORPHA:2522
3M Syndrome
Decreased fertility, Hypospadias ORPHA:2616
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly ORPHA:37748
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Focal polymicrogyria, Recurrent urinary tract infections, Vesicoureteral reflux, Cry... OMIM:619103
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Perineal fistula, Rectal atresia, Rectovaginal fistula ORPHA:3016
Autosomal Dominant Omodysplasia
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Hypoplasia of penis ORPHA:93328
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Anal atre... OMIM:220210
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Growth delay, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Acrofrontofacionasal Dysostosis
Hypospadias, High palate, Bifid scrotum, Short stature, Cleft palate ORPHA:1784
Zellweger Syndrome
Clitoral hypertrophy, Hypospadias, Polymicrogyria, High palate, Pyloric stenosis, Short stature, ... ORPHA:912
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Aganglionic megacolon, Renal hypoplasia/aplasia, Glandular hypospadias, Ectopic... ORPHA:2473
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Hypoplasia of the bladder, Renal agenesis, Cleft palate, Sex reversal, In... OMIM:611812
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Optic disc pallor, Bradycardia ORPHA:565624
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Labial hypoplasia, Recurrent urinary tract infections, Enuresis, Cryptorchidism OMIM:619293
Short Stature And Microcephaly With Genital Anomalies
Delayed puberty, External genital hypoplasia, Delayed thelarche, Phimosis, Decreased body weight,... OMIM:618702
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Diamond-Blackfan Anemia 5
Short stature, Hypospadias OMIM:612528
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Decreased fertility, Hypospadias, Abnormal localization of kidney ORPHA:500
Marden-Walker Syndrome
Postnatal growth retardation, High, narrow palate, Hypospadias, High palate, Pyloric stenosis, Re... OMIM:248700
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism, Increased pit... ORPHA:90674
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Neonatal death, Stage 5 chronic kidney d... OMIM:613390
Axenfeld-Rieger Syndrome
Growth delay, Anal stenosis, Hypospadias, Abnormality of the hypothalamus-pituitary axis ORPHA:782
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, High palate, Medullary nephro... ORPHA:363528
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Lymphadenopathy, Anemia, Neoplasm of the pancreas, Testicular neo... ORPHA:83469
Macrocephaly-Intellectual Disability-Autism Syndrome
Lymphoid nodular hyperplasia, Thyroid carcinoma, Intestinal polyposis, Penile freckling, Hurthle ... ORPHA:210548
Sepsis In Premature Infants
Jaundice, Anemia, Hepatomegaly, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Splenom... ORPHA:90051
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hypospadias, Cryptorchidism ORPHA:494344
Beta-Thalassemia Intermedia
Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean corpuscular volume, A... ORPHA:231222
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Impotence, Arrhythmia, Cataract, Diabetes mellit... OMIM:606069
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Buratti-Harel Syndrome
Cryptorchidism, Hypospadias OMIM:619314
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Failure to thrive, High palate, Hypospadias OMIM:619272
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal... OMIM:240950
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Cleft palate, Bifid uvula, Micropenis OMIM:614175
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cys... OMIM:257300
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Lig4 Syndrome
Amenorrhea, Cryptorchidism, Micropenis OMIM:606593
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Pulmonary carcinoid tumor, Adre... ORPHA:99889
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... ORPHA:226313
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Secondary amenorrhe... ORPHA:572333
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone secretion, Chronic noninfe... ORPHA:100083
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
H Syndrome
Corneal arcus, Hypertriglyceridemia, Enlarged kidney, Delayed puberty, Lymphadenopathy, Abnormal ... ORPHA:168569
Scarf Syndrome
Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis ORPHA:3134
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hypospadias OMIM:601499
Intellectual Developmental Disorder, Autosomal Dominant 48
Intrauterine growth retardation, Polymicrogyria, Hypospadias OMIM:617751
Seckel Syndrome 1
Postnatal growth retardation, Clitoral hypertrophy, Hypospadias, High palate, Proportionate short... OMIM:210600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Hypertrophic card... OMIM:618775
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
3C Syndrome
Postnatal growth retardation, High, narrow palate, Hypospadias, Hypoplasia of penis, Ectopic anus... ORPHA:7
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Abnormal cortical gyration, Hypospadias, Lissencephaly, Polymicrogyria, Bifid scrotum... ORPHA:2211
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Hypospadias OMIM:618316
Ring Chromosome 12 Syndrome
Breast hypoplasia, High, narrow palate, Glandular hypospadias, Cryptorchidism, Hypothyroidism, Gr... ORPHA:1439
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Hypertension, Asplenia, Chemosis, Epistaxis, Coombs-positive hemol... OMIM:614034
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal d... ORPHA:79083
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Hypospadias, Truncal obesity ORPHA:3224
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Asc... OMIM:261740
Hatipoglu Immunodeficiency Syndrome
Hypospadias, Proportionate short stature, Failure to thrive, Intrauterine growth retardation, Cry... OMIM:620331
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o... ORPHA:991
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hypospadias ORPHA:254346
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Bladder Exstrophy
Epispadias, Bladder exstrophy, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urina... ORPHA:93930
3Mc Syndrome 3
Penoscrotal hypospadias, Bifid scrotum, Short stature, Growth delay, Cleft palate, Cryptorchidism... OMIM:248340
Toriello-Lacassie-Droste Syndrome
Epispadias, Aganglionic megacolon, Hypospadias, Abnormality of the bladder, Abnormality of the ur... ORPHA:3339
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hepatosplenomegaly, Splenomegaly, Prima... OMIM:612526
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:97290
D-Glyceric Aciduria
Optic nerve hypoplasia, Micropenis, Bradycardia OMIM:220120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cleft palate, Hydronephrosis, Intrauterine growth retardation, Micropenis, Small for... OMIM:616897
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci... OMIM:300845
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Elevated circulating parathyroid hormone level, Hypospadias, Obesit... ORPHA:439822
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Hermansky-Pudlak Syndrome 6
Urinary incontinence, Endometriosis, Recurrent urinary tract infections, Neurogenic bladder, Peri... OMIM:614075
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Iris hyp... ORPHA:79477
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Orofaciodigital Syndrome Type 4
High, narrow palate, Renal hypoplasia/aplasia, Rectovaginal fistula, Monorchism, Perineal fistula... ORPHA:2753
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Coronal hypospadias, Bilateral cryptorchidism OMIM:619859
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Male hypogonadism OMIM:615381
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:250999
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Short stature, Hydronephrosis, ... OMIM:301056
Schilbach-Rott Syndrome
Short stature, Submucous cleft hard palate, Bifid uvula, Hypospadias OMIM:164220
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dysplasia, Panc... OMIM:617052
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Polymicrogyria, Urogenital sinus anomaly, ... OMIM:618820
Intellectual Developmental Disorder, X-Linked 112
Hypospadias, Ectopic kidney, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Autosomal Recessive Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Cryptorchidism, Hypospadias, Abnormality of the... ORPHA:2311
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Anal atresia, Short stature, Chordee, Cleft palate,... OMIM:309801
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, H... ORPHA:99812
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Bradycardia, Capillary leak, Neutrophilia in presence of... ORPHA:99826
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia OMIM:614498
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Hypospadias, Failure to thrive, Small scrotum, Cryptorchidism, Micropenis, Small for ... OMIM:607143
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellu... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iig
Postnatal growth retardation, Rhizomelia, Hypospadias, Hemolytic-uremic syndrome, High palate, Gl... OMIM:611209
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, High, narrow palate, Decreased response to growth hormone stimulati... ORPHA:96182
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Trigonocephaly 1
Meckel diverticulum, High, narrow palate, Long penis OMIM:190440
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero... ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, Hypospadias OMIM:300260
Gracile Bone Dysplasia
Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Conjunctivitis, Follicular hy... OMIM:240500
Microphthalmia, Syndromic 3
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonadotropic hypogona... OMIM:206900
Auriculocondylar Syndrome 2B
Postnatal growth retardation, Failure to thrive, Long penis OMIM:620458
Kleefstra Syndrome 1
Abnormal renal morphology, Cryptorchidism, Micropenis, Hypospadias OMIM:610253
Donohue Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, L... OMIM:246200
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Ascites, Pulmonary arterial hypertension... OMIM:617021
Fanconi Anemia, Complementation Group A
Male infertility, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Hyperg... OMIM:227650
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Cri-Du-Chat Syndrome
Abnormality of the kidney, Hypospadias, High palate, Growth delay, Bifid uvula, Cryptorchidism, S... OMIM:123450
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Ciliary Dyskinesia, Primary, 12
Short stature, Immotile sperm, Reduced sperm motility OMIM:612650
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias OMIM:603736
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va... OMIM:308240
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Pseudo-Torch Syndrome 2
Hepatomegaly, Bradycardia, Ascites, Thrombocytopenia, Cerebral hemorrhage OMIM:617397
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias ORPHA:1786
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Focal polymicrogyria, Microphallus, Hyperechogenic kidneys, Small s... OMIM:612651
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
20Q13.33 Microdeletion Syndrome
Hypospadias, Growth delay, Failure to thrive in infancy, Decreased scrotal rugation, Small for ge... ORPHA:261311
Leopard Syndrome 1
Unilateral renal agenesis, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism... OMIM:151100
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Angina pectoris, Corneal opacity, Splenomegaly ORPHA:79292
Hand-Foot-Genital Syndrome
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Bicornuate uterus, Ureter... ORPHA:2438
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Thromboc... ORPHA:398124
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Thrombocyto... ORPHA:290
8P23.1 Microdeletion Syndrome
Hypospadias, High palate, Short stature, Growth delay, Obesity, Weight loss, Intrauterine growth ... ORPHA:251071
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
X-Linked Lissencephaly With Abnormal Genitalia
Ambiguous genitalia, Cryptorchidism, Pachygyria, Hypoplasia of penis ORPHA:452
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P... ORPHA:98850
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Acute kidney injury, Abnormality of endocrine pancreas physiology, Aplasia/H... ORPHA:93111
Opitz Gbbb Syndrome
Rectourethral fistula, Hypospadias, Vesicoureteral reflux, High palate, Anal atresia, Growth dela... OMIM:300000
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub... ORPHA:98754
Bladder Exstrophy And Epispadias Complex
Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Anteriorly... OMIM:600057
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Male urethral meatus stenosis, Cryptorchidism, Absent nipple, Hypoplastic nipples OMIM:616001
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Ischemic stroke, Decreased response to growth hormone stimulation test, Azoosper... ORPHA:280679
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Short statu... ORPHA:1988
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Pancreatitis, Secondary amenorrhea,... ORPHA:2348
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Prolactinoma
Erectile dysfunction, Anterior hypopituitarism, Decreased female libido, Decreased fertility in m... ORPHA:2965
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Hypoplasia of penis, Bilateral cryptorchidism, Hypothyroidism, Growt... ORPHA:66634
Van Maldergem Syndrome 2
Hypospadias, Hypoplastic nipples, Bifid scrotum, Gray matter heterotopia, Renal hypoplasia, Periv... OMIM:615546
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, High palate, Anal atresia, Intestinal malrotation, Short stature, Failure to thrive,... OMIM:617602
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, High palate, Bifid scrotum, Anal atresia, Pyloric stenosi... OMIM:619148
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Cryptorchidism, Supernumerary nipple, Hypospadias ORPHA:477993
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cen... ORPHA:277
Meier-Gorlin Syndrome 3
Breast hypoplasia, Clitoral hypertrophy, Hypospadias, Hypoplastic labia minora, Short stature, Fa... OMIM:613803
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Scarf Syndrome
Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis OMIM:312830
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Ear-Patella-Short Stature Syndrome
Epispadias, Clitoral hypertrophy, High, narrow palate, Hypospadias, Hypoplasia of penis, Breast a... ORPHA:2554
Necrotizing Enterocolitis
Shock, Bradycardia, Leukocytosis, Ascites, Hypotension, Thrombocytopenia, Peritonitis, Neutropenia ORPHA:391673
Kleefstra Syndrome
Supernumerary nipple, Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflu... ORPHA:261494
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism ORPHA:568
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub... ORPHA:98793
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weigh... ORPHA:1359
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Vesicoureteral reflux, Pyl... ORPHA:96169
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias ORPHA:171430
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Intrauterine growth retardation, High palate, Hypospadias ORPHA:363686
Rhabdoid Tumor
Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
16Q24.3 Microdeletion Syndrome
Astigmatism, Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Dilated... ORPHA:261250
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Shawl scrotum, Cryptorchidism, Micropenis, Hypospadias OMIM:600460
Lowry-Maclean Syndrome
High, narrow palate, Hypospadias, Midgut malrotation, Bilateral cryptorchidism, Pyloric stenosis,... ORPHA:2409
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Hypospadias, Growth delay, Failure to thrive, Intrauterine growth re... OMIM:614052
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub... ORPHA:177904
Martin-Probst Syndrome
Renal insufficiency, Hypoplastic nipples, Bifid scrotum, Chordee, Proteinuria, Cryptorchidism, Mi... OMIM:300519
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Vesicoureteral reflux, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypo... OMIM:617159
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
22Q11.2 Duplication Syndrome
Growth delay, Cleft palate, Displacement of the urethral meatus, Hydronephrosis, Urethral stenosi... ORPHA:1727
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub... ORPHA:177901
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis... OMIM:616216
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy ORPHA:50251
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Narrow palate, Hypospadias, Glandular hypospadias, High palate, Shawl scrotum, Supernumerary nipp... OMIM:604314
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Decreased testicular size, Cryptorchidism, Hypospadias, Bilateral cryptorchidism OMIM:300998
Ellis-Van Creveld Syndrome
Epispadias, Cryptorchidism, Hypospadias OMIM:225500
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub... ORPHA:739
Ulnar-Mammary Syndrome
Hypoplasia of penis, Breast aplasia, Hypoplastic nipples, Renal hypoplasia, Abnormality of the ut... ORPHA:3138
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Mediastinal lymphadenopathy, Hemophagocytosis,... OMIM:619802
Ciliary Dyskinesia, Primary, 11
Short stature, Reduced sperm motility OMIM:612649
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, High palate, Uric acid nephrolithiasis, Short stature, Urolithiasis, Hyperuricosuria... OMIM:300661
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Anal stenosis, Hypospadias, Breast aplasia, Vesicoureteral reflux, High pal... OMIM:617063
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Galactosemia I
Cirrhosis, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Catarac... OMIM:230400
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Hypogonadism, Abnormal peni... ORPHA:2658
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart fa... ORPHA:231226
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopat... OMIM:602782
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepato... ORPHA:264580
Fanconi Anemia
Renal hypoplasia/aplasia, Meckel diverticulum, Abnormal renal morphology, Tracheoesophageal fistu... ORPHA:84
Waardenburg Syndrome, Type 4C
Cryptorchidism, Lacrimal gland hypoplasia, Hypogonadism OMIM:613266
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Cryptorchidism, Precocious puberty OMIM:614736
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Microcornea, Spherocytosis, Abnormality of the hypothalamus-pit... ORPHA:251066
Primary Ciliary Dyskinesia
Male infertility, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia ORPHA:244
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Anal atresia, Cleft palate, Hyperthyroidism, Intrauterine growt... ORPHA:2008
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia, Epistaxis, Subarachn... OMIM:185070
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Corneal opacity, Splenomegaly ORPHA:93476
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Congenital Myopathy 22A, Classic
Neonatal death, Tricuspid regurgitation, Bradycardia OMIM:620351
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Amenorrhea, Oligozoospermia, Hypogonadism ORPHA:91351
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Hypospadias, Polycystic kidney dysplasia, High palate, Renal cyst, Short stature, Re... OMIM:614091
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Iris hypopigmentat... ORPHA:381
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal... ORPHA:3386
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Small intestine carcinoid, Pulmon... ORPHA:100093
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum, Increased circulating androgen concentration, Diabetes mellitus, Premature ... ORPHA:2976
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial ... OMIM:277400
Meningioma
Urinary incontinence, Neoplasm of the tongue, Impotence, Decreased circulating cortisol level, Ab... ORPHA:2495
Trisomy 8Q
Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:1752
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Hypercholesterolemia, Peripor... OMIM:278000
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration OMIM:609195
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, High palate, Anal atresia, Abnormal large intestine morpholog... ORPHA:93932
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Failure to thrive, Abnormality... ORPHA:464311
Distal Deletion 15Q
Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of... ORPHA:1596
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hypothyroidism, Hepatosplenomegaly, Mitral regurgitation, Microcytic anemia OMIM:619750
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Ke... OMIM:240300
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasi... ORPHA:2166
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve, Cryptorchidism OMIM:100100
Distal Deletion 9P
High, narrow palate, Cleft palate, Hypospadias, Hypoplastic labia majora ORPHA:1642
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Hypospadias, Protruding tongue, Growth delay, Renal agenesis, Hydro... OMIM:301040
Van Maldergem Syndrome 1
Hypospadias, High palate, Gray matter heterotopia, Anal atresia, Growth delay, Renal hypoplasia, ... OMIM:601390
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Hypospadias OMIM:217980
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bifid uterus, Crossed fus... OMIM:617466
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, High, narrow palate, Hypospadias, Polymicrogyria, Adrenal hypoplasia, High ... OMIM:214100
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia OMIM:616651
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreat... ORPHA:699
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Cleft palate, Postnatal growth retardation, Hypospadias OMIM:619184
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Robinow Syndrome
External genital hypoplasia, Multicystic kidney dysplasia, Ankyloglossia, Clitoral hypoplasia, De... ORPHA:97360
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Short stature, Failure to thrive, Chordee, Cleft pala... OMIM:151050
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Short stature, Bifid uvula, C... OMIM:601808
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Precocious puberty, Metrorrhagia, Neoplasm of the scr... ORPHA:370348
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Postnatal growth retardation, Hypospadias, Precocious puberty, Type II diabetes mellitus, Disprop... OMIM:210720
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Fryns Syndrome
Aganglionic megacolon, Hypospadias, Ectopic anus, Vesicoureteral reflux, High palate, Bicornuate ... ORPHA:2059
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen... OMIM:619644
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Congestive heart failure, Increased circulating free T3, ... ORPHA:525731
Immune Dysregulation, Autoimmunity, And Autoinflammation
Epistaxis, Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Severe failure to thrive, Hypospadias, Unilateral re... ORPHA:468631
Ellis Van Creveld Syndrome
Epispadias, Neonatal short-limb short stature, Abnormality of the kidney, Renal hypoplasia/aplasi... ORPHA:289
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias, Cryptorchidism OMIM:616737
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Transaldolase Deficiency
Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Splenome... OMIM:606003
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Renal tubular acidosis, Growth delay, Failure to thrive, Small for gestational age OMIM:615471
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Pulmonic stenosis, Neonatal death, Hypoplastic spleen, ... OMIM:601186
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Fulminant hepatitis, Leukocytosis, Hypotension, Thrombocytopenia, Leuko... ORPHA:319213
Fetal Gaucher Disease
Stillbirth, Hepatomegaly, Pancytopenia, Neonatal death, Thrombocytopenia, Abnormality of the sple... ORPHA:85212
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, External genital hypoplasia, Hypogonadism, Hypoplasia of penis ORPHA:2250
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy ORPHA:3063
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Myotonic Dystrophy 2
Posterior subcapsular cataract, Right bundle branch block, Oligozoospermia, Premature ventricular... OMIM:602668
Cerebrofacioarticular Syndrome
Anal stenosis, Hypospadias, Gray matter heterotopia, Short stature, Absence of pubertal developme... ORPHA:314679
Macrocephaly/Autism Syndrome
Large for gestational age, High palate, Obesity, Penile freckling, Hydrocele testis OMIM:605309
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Epistaxis, Met... ORPHA:520
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... OMIM:603903
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, High palate, Short stature, Failure to thrive, Congenital posterior urethral valve, ... OMIM:620083
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, High palate, Glossoptosis, Short stature, Growth delay, Cleft palate, Hydr... ORPHA:1358
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Carney Triad
Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Adrenocortical... ORPHA:139411
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete... OMIM:271500
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior pituitary hypo... ORPHA:464306
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,... ORPHA:39041
Nizon-Isidor Syndrome
Hypospadias OMIM:618872
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Kayser-Fleischer ring, Hepatitis, Thr... ORPHA:905
Osteoglophonic Dysplasia
Chordee, Cryptorchidism, Hypospadias OMIM:166250
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, P... ORPHA:549
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Abnorma... ORPHA:2322
Oculoskeletodental Syndrome
Hepatomegaly, Hypothyroidism, Developmental cataract, Splenomegaly, Lacunar stroke, Cryptorchidism OMIM:618440
Craniofrontonasal Syndrome
Breast hypoplasia, Hypospadias, Unilateral breast hypoplasia, Shawl scrotum, Cryptorchidism OMIM:304110
3Mc Syndrome 2
Postnatal growth retardation, Hypospadias, High palate, Cleft palate, Cryptorchidism, Horseshoe k... OMIM:265050
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s... OMIM:230800
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s... ORPHA:2035
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertriglyceridemia, Hepatomegal... ORPHA:280365
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... OMIM:612561
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Hypospadias, Cleft soft palate, Posterior ... ORPHA:268261
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, High palate, Furrowed tongue, Cleft palate, Hydronephrosis OMIM:616449
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Hepatocellular car... ORPHA:79240
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb... ORPHA:2969
Bardet-Biedl Syndrome 20
Male hypogonadism, Micropenis, Proteinuria, Bilateral cryptorchidism OMIM:619471
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hypertension, Abnormality of ... ORPHA:2169
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis... ORPHA:79456
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hypospadias, Polycystic kidney dysplasia, Polymicrogyria, Hypoplastic nippl... OMIM:614866
Specc1L-Related Hypertelorism Syndrome
Female pseudohermaphroditism, Shawl scrotum, Cryptorchidism, Ectopic kidney ORPHA:1519
Fanconi Anemia, Complementation Group E
Ectopic kidney, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Cry... OMIM:600901
Opitz Gbbb Syndrome
Hypospadias, Ectopic anus, Thyroglossal cyst, Bifid scrotum, Bicornuate uterus, Tracheoesophageal... ORPHA:2745
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Bronchial Neuroendocrine Tumor
Hepatomegaly, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Pulmon... ORPHA:97287
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Neuroleptic Malignant Syndrome
Pulmonary embolism, Bradycardia, Hypertension, Leukocytosis, Hypertensive crisis, Hypotension, Th... ORPHA:94093
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Periportal f... ORPHA:64743
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Abnormal left ventricular function, Pancreatic endocrine t... ORPHA:892
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee... ORPHA:464329
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Ocular albinism, Spontaneous, ... OMIM:214500
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regur... ORPHA:2414
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hematochezia, Type II diabetes m... ORPHA:79095
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Alg12-Cdg
Hypospadias, Intestinal malrotation, Failure to thrive, Pachygyria, Decreased serum insulin-like ... ORPHA:79324
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Shawl scrotum, Cr... ORPHA:261265
Boutonneuse Fever
Lymphadenopathy, Vasculitis, Thrombocytopenia, Leukopenia, Cervical lymphadenopathy ORPHA:83313
Cornelia De Lange Syndrome 1
High, narrow palate, Hypospadias, Ectopic kidney, Abnormal renal morphology, Hypoplastic male ext... OMIM:122470
Cdags Syndrome
Rectourethral fistula, Hypospadias, Rectovaginal fistula, Anal atresia, Cleft palate OMIM:603116
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
3Q29 Microdeletion Syndrome
Failure to thrive, Horseshoe kidney, High palate, Hypospadias ORPHA:65286
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Intrauterine growth retardation, Hyper... ORPHA:99413
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis, Hypospadias ORPHA:436003
Mosaic Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Intrauterine growth retardation, Hyper... ORPHA:99228
Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Intrauterine growth retardation, Hyper... ORPHA:99226
Turner Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Ectopic kidney, Intrauterine growth retardation, Hyper... ORPHA:881
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Renal cyst, Crypt... ORPHA:495875
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcifi... ORPHA:75233
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... ORPHA:64
Renal Nutcracker Syndrome
Anemia, Orthostatic hypotension, Tachycardia, Infertility, Dyspareunia, Vulval varicose vein, Var... ORPHA:71273
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Hydroureter, Hypospadias, Hypoplastic labia minora, Hypoplastic nip... OMIM:269150
Bloom Syndrome
Postnatal growth retardation, Azoospermia, Growth delay, Type II diabetes mellitus, Intrauterine ... OMIM:210900
6Q Terminal Deletion Syndrome
High, narrow palate, Hypospadias, Polymicrogyria, Phimosis, Gray matter heterotopia, Failure to t... ORPHA:75857
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes... OMIM:304790
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Melena, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythro... ORPHA:98870
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Tachycardia OMIM:614653
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Mosaic Trisomy 16
Maternal diabetes, Hypospadias, Horseshoe kidney, Meckel diverticulum, Intrauterine growth retard... ORPHA:1708
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia... OMIM:612783
Chromosome 9P Deletion Syndrome
Narrow palate, High, narrow palate, Hypospadias, High palate, Micropenis OMIM:158170
Rapp-Hodgkin Syndrome
Hypospadias, Decreased number of sweat glands, Short stature, Velopharyngeal insufficiency, Cleft... OMIM:129400
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Abnormal preputium morphology, Cleft soft palate ORPHA:293725
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Hypospadias, Bifid scrotum, High palate, Prominent scrotal raphe, Bifid uvula, Ant... OMIM:123790
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia ORPHA:90037
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, Simplified gyral pattern, Hypogonadism, Small scrotum, Cryptorchidis... OMIM:614231
Jacobsen Syndrome
Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Pyloric stenosis, Failure ... OMIM:147791
Craniofacioskeletal Syndrome
Absent gallbladder, Hydronephrosis, Hypospadias, Cryptorchidism OMIM:300712
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Hypospadias, Gray matter heterotopia, Anal atresia, Intestinal malr... OMIM:305450
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate a... ORPHA:79124
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo... ORPHA:97289
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Hematocolpos, Enuresis, Grad... OMIM:619522
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Penile hypospadias ORPHA:73230
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Increased circulating free fatty acid level, Bradycardia OMIM:610768
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity... ORPHA:811
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Primary hypothyroidism, Bifid scrotum, Urogenital sin... ORPHA:96176
Diamond-Blackfan Anemia
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic... ORPHA:124
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... ORPHA:829
Gaucher Disease Type 1
Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Bilia... ORPHA:77259
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymph... OMIM:615895
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Renal hypoplasia, Ab... ORPHA:2470
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Noonan Syndrome 1
Postnatal growth retardation, High, narrow palate, Male infertility, Hypospadias, High palate, Sh... OMIM:163950
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Dubowitz Syndrome
Postnatal growth retardation, Abnormal female external genitalia morphology, Rectal prolapse, Ana... ORPHA:235
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Melena, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation... ORPHA:100080
Scrub Typhus
Myocarditis, Lymphadenopathy, Hypotension, Splenomegaly ORPHA:83317
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Hypospadias, Renal insufficiency, Renal cortical cysts, Rhizomelic arm... ORPHA:397715
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa... ORPHA:809
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia... ORPHA:540
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial flu... ORPHA:137675
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Dowling-Degos Disease
Penile freckling, Scrotal hyperpigmentation ORPHA:79145
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Intestinal malrotation, Bifid uvula, Small scrotum, Septate vagina, Intrauterine g... OMIM:270400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Pericarditis, Arrhythmia, Splen... ORPHA:342
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ... ORPHA:169090
Fryns Syndrome
Stillbirth, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Rena... OMIM:229850
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Nephroblastoma
Neoplasm of the liver, Hypertension, Lymphadenopathy, Aniridia ORPHA:654
Fraser Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuat... ORPHA:2052
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Leprechaunism
Postnatal growth retardation, Clitoral hypertrophy, Rectal prolapse, Hyperinsulinemia, Enlarged k... ORPHA:508
Ring Chromosome 7 Syndrome
Hypospadias, Hypogonadism, Hydrocele testis ORPHA:1449
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Cornelia De Lange Syndrome
Delayed puberty, Hypoplasia of penis, Intestinal malrotation, Intrauterine growth retardation, Hy... ORPHA:199
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ... OMIM:606367
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul... ORPHA:75565
Hartsfield Syndrome
Hypospadias, Diabetes insipidus, Gonadotropin deficiency, Growth delay, Cleft palate, Cryptorchid... OMIM:615465
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias OMIM:609944
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopen... OMIM:267700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Absent gallbladder, Cryptorchidism, Micropenis ORPHA:163979
Waldenström Macroglobulinemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden... ORPHA:33226
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Enuresis, Aplasia/hypoplasia of the uterus, Hydronephrosi... ORPHA:96121
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly... ORPHA:294
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Lymphadenopathy, Ascites, Splenomegaly, Conjunctivitis ORPHA:36412
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Bradycardia, Retinal atrophy, Cardiomegaly ORPHA:97297
Townes-Brocks Syndrome
Delayed puberty, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum, ... ORPHA:857
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Micropenis, Hypospadias, Cryptorchidism ORPHA:163956
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Conjunctivitis, Thrombocytopenia, Sp... OMIM:617591
Vater/Vacterl Association
Postnatal growth retardation, Esophageal atresia, Hypospadias, Ectopic kidney, Vesicoureteral ref... OMIM:192350
Sarcoidosis
Increased T cell count, Leukopenia, Abnormal reproductive system morphology, Abnormal conjunctiva... ORPHA:797
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone... OMIM:127550
Neuroendocrine Tumor Of Stomach
Hematemesis, Hepatomegaly, Iron deficiency anemia, Melena, Chronic noninfectious lymphadenopathy,... ORPHA:100075
Thyroid Lymphoma
Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Abdom... ORPHA:160
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Vasculitis, Hypertension, Leu... OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Hypertriglyceridemia, Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Decreas... OMIM:269700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Micropenis, Hypospadias, Supernumerary nipple OMIM:106260
Sitosterolemia 1
Corneal arcus, Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic... OMIM:210250
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Melena, Chronic noninfectious lymphadenopathy, Hypotension, Tricuspid regurgitation... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Melena, Chronic noninfectious lymphadenopathy, Hypotension, Tricuspid regurgitation... ORPHA:100082
Pentalogy Of Cantrell
Renal dysplasia, Renal agenesis, Hypospadias, Absent gallbladder ORPHA:1335
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Acrocallosal Syndrome
Postnatal growth retardation, Hypospadias, Rectovaginal fistula, High palate, Anal atresia, Protr... OMIM:200990
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Coffin-Siris Syndrome
Postnatal growth retardation, Hypospadias, Papillary thyroid carcinoma, Growth delay, Simplified ... ORPHA:1465
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Mosaic Trisomy 1
Renal cortical cysts, Polymicrogyria, Renal cyst, Penile hypospadias, Micropenis ORPHA:1692
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hepatospl... ORPHA:1655
Trichohepatoenteric Syndrome 1
Hypospadias, Galactosuria, Short stature, Failure to thrive, Renal cortical microcysts, Bifid uvu... OMIM:222470
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Pulmonary arterial hypertension, Hypoplastic spleen, Cardiomegaly, Poly... OMIM:620642
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple... ORPHA:90033
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Micropenis, Hypospadias, Small pituitary gland OMIM:619479
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias OMIM:618846
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Vesicoureteral reflux, Decreased testicular size, Renal hypoplasia, Hypogonadism, Sm... OMIM:309580
Eisenmenger Syndrome
Ascites, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure... ORPHA:97214
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... ORPHA:3261
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Vasculitis, Leukocytosis, Conjunctivitis, Pericarditis, Splenomegaly, Orchitis, ... ORPHA:32960
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal female external genitalia morphology, Annular pancreas, Hypos... ORPHA:1606
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Monocytosis, Hypoplasia of the thymus, Pulmonary arte... OMIM:612541
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of t... ORPHA:91495
Baller-Gerold Syndrome
Abnormality of the kidney, Rectovaginal fistula, Polymicrogyria, Perineal fistula, High palate, S... OMIM:218600
Dubowitz Syndrome
Postnatal growth retardation, Hypospadias, High palate, Short stature, Velopharyngeal insufficien... OMIM:223370
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias, Cholelithiasis ORPHA:464738
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Farber Disease
Anemia, Lymphadenopathy, Macular degeneration, Intrahepatic cholestasis with episodic jaundice, C... ORPHA:333
Autosomal Dominant Robinow Syndrome
Epispadias, High, narrow palate, Hypospadias, Abnormal penis morphology, Hypoplasia of penis, Hyp... ORPHA:3107
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Cryptorchidism, Hypospadias, Hypoplastic nipples OMIM:265000
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane... OMIM:615512
Illum Syndrome
Bradycardia OMIM:208155
Congenital Syphilis
Optic atrophy, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, H... ORPHA:499009
Penile Agenesis
Rectal fistula, Maternal diabetes, Hydroureter, Abnormality of the bladder, Bilateral renal agene... ORPHA:49
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Cataract, Retinal degeneration, Diab... OMIM:277700
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Diabetes mellitus, Hepatosplenomegaly, Exocrine pa... ORPHA:1333
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Hypotension, Tricuspid stenosis, Small intestine carcino... ORPHA:100078
C Syndrome
Renal hypoplasia/aplasia, Female pseudohermaphroditism, Cryptorchidism, Multicystic kidney dyspla... ORPHA:1308
Coccidioidomycosis
Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ... ORPHA:228123
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Congestive heart failure, Elevated circulating thyroid-stimulating hormone ... OMIM:256040
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Bradycardia, Neonatal death, Cataract, Neutropenia OMIM:617248
Yellow Fever
Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, S... ORPHA:99829
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Decreased fertility in femal... OMIM:608594
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Behçet Disease
Gastrointestinal hemorrhage, Myocardial infarction, Pancreatitis, Lymphadenopathy, Aortic regurgi... ORPHA:117
Gray Platelet Syndrome
Abnormal number of alpha granules, Menorrhagia, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:139090
Skin Creases, Congenital Symmetric Circumferential, 2
Ureterocele, Cryptorchidism, Small scrotum, Hypospadias OMIM:616734
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, High palate, Renal cyst, Intestinal malrotation, Short ... OMIM:102500
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Reduced progressive sperm motility, Duodenal atresia OMIM:619608
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormality of the kidney, Abnormal penis morpho... ORPHA:201
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Palpitations, Biliary tract obstruction, Intrahepatic cholestasis with episodic jau... ORPHA:100085
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du... OMIM:613812
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias OMIM:620306
Monosomy 9P
Ambiguous genitalia, Ureteropelvic junction obstruction, Hypospadias, Cryptorchidism ORPHA:261112
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Irregular menstruation, Retinal atrophy, Hypertension, Thymic hormon... OMIM:216400
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Decreased testicular size, Short stature, Urethral stenosis, Oral leukopla... OMIM:305000
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Cardiac arrest, Eosinophilia, Hepatitis ORPHA:139402
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia,... OMIM:269200
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Male hypogonadism, Hyperinsulinemia, Decreased response to gro... ORPHA:273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell... ORPHA:167
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Epistaxis, Stomatocy... OMIM:153670
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Hypochromi... ORPHA:514
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Otopalatodigital Syndrome Type 2
Hypospadias, Glossoptosis, Failure to thrive, Ureteral obstruction, Cleft palate, Hydronephrosis ORPHA:90652
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
African Trypanosomiasis
Abnormality of the endocrine system, Impotence, Abnormal growth hormone level, Pericarditis, Sple... ORPHA:3385
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal left ventricular function, Vasculiti... ORPHA:781
Thoracoabdominal Syndrome
Renal agenesis, Cleft palate, Hypospadias OMIM:313850
Vici Syndrome
Postnatal growth retardation, High palate, Gray matter heterotopia, Median cleft palate, Failure ... OMIM:242840
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Brucellosis
Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Arteritis, Transient ischemic ... ORPHA:1304
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism OMIM:616975
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis, Horseshoe kidney OMIM:609945
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomega... ORPHA:39812
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Recurrent urinary tract infections, Anterior pituitary hypoplasia, Chordee, Fetal py... OMIM:619841
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Aganglionic megacolon, Rhizomelia, Hypospadias, Renal hypoplasia/aplasia, H... ORPHA:818
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Renal agenesis, Varicocele,... ORPHA:2044
Encephalitis Lethargica
Bradycardia ORPHA:83600
Eec Syndrome
Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Hypospadias, Ant... ORPHA:1896
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Hypertension, Polycythemia, Papil... OMIM:193300
Degcags Syndrome
Abnormal renal medulla morphology, Hypospadias, Recurrent urinary tract infections, High palate, ... OMIM:619488
Townes-Brocks Syndrome 1
Anal stenosis, Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bif... OMIM:107480
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Heterochromia iridis, Splenomegaly, Hypogonadism, Arrhythmia ORPHA:163746
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadias, Ethylmalon... ORPHA:17
Middle Ear Neuroendocrine Tumor
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm ORPHA:100084
Pallister-Hall Syndrome
Ectopic kidney, Thyroid hypoplasia, Bifid uvula, Small scrotum, Central adrenal insufficiency, In... ORPHA:672
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro... ORPHA:1775
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Raynaud phenomenon, Lymphopenia, Thrombocytosis... OMIM:615934
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypospadias, High palate, Severe short stature, Bladder exstrophy, Intrauterine growth retardation OMIM:210730
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, S... OMIM:607765
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Ascites, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Microang... ORPHA:93552
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Vasculitis, Peritonitis ORPHA:343
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding ORPHA:424019
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... ORPHA:3097
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Conjunctival hyperemia, Conjunctivitis, Hepatic amyloi... OMIM:142680
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Nephrocalcinosis, Hydronephrosis, Congenital post... OMIM:136140
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:363958
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Robinow Syndrome, Autosomal Recessive 1
Hypospadias, Hypoplastic labia minora, Nephrolithiasis, Clitoral hypoplasia, Hydronephrosis, Rena... OMIM:268310
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H... ORPHA:729
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Supernumerary nipple, Hypoplasia of penis, Hydron... ORPHA:373
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Chronic noninfectious lymphad... ORPHA:100079
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ... ORPHA:449432
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Pulmonic stenosis, Hypoplasia o... ORPHA:3109
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Remnant... OMIM:620185
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormal cortical gyration, Hypospadias, Bicornua... OMIM:219000
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Lymphadenopathy ORPHA:79126
Poland Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Urete... ORPHA:2911
Schinzel-Giedion Syndrome
Annular pancreas, Aganglionic megacolon, Hypospadias, Macroglossia, High palate, Nephrolithiasis,... ORPHA:798
Elsahy-Waters Syndrome
Penoscrotal hypospadias, Bifid scrotum, Hypospadias, Bilateral cryptorchidism OMIM:211380
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypospadias, Growth delay, Failure to thrive, 3-hydroxydicarboxylic aciduria, Lacticaciduria OMIM:252010
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Ectopic anus, Cleft palate, Hypospadias, Anal atresia ORPHA:85199
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemic attac... ORPHA:3260
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi... OMIM:611881
Cystic Fibrosis
Absent vas deferens, Male infertility, Nephrolithiasis ORPHA:586
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th... OMIM:218700
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increas... OMIM:620376
Bloom Syndrome
Premature ovarian insufficiency, Oligozoospermia, Male infertility, Azoospermia ORPHA:125
Kbg Syndrome
Epispadias, Cryptorchidism OMIM:148050
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Postnatal growth retardation, Unilateral renal agenesis, Hypospadias, Abnormality of the endocrin... ORPHA:487796
Neuroblastoma
Anemia, Lymphadenopathy, Hypertension, Abdominal mass, Thrombocytopenia, Elevated circulating cat... ORPHA:635
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ... ORPHA:565612
Tangier Disease
Hypertriglyceridemia, Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Orange disc... ORPHA:31150
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Yunis-Varon Syndrome
Postnatal growth retardation, Clitoral hypertrophy, High, narrow palate, Severe failure to thrive... ORPHA:3472
Common Variable Immunodeficiency
Lymphadenopathy, Vasculitis, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thro... ORPHA:1572
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti... ORPHA:289390
Malakoplakia
Follicular hyperplasia, Prostate neoplasm, Orchitis, Abnormality of the menstrual cycle ORPHA:556
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Hypoparathyroidism, Hypospadias, Cholelithiasis, Polycystic kidney dysplas... ORPHA:567
Wolf-Hirschhorn Syndrome
Abnormality of the kidney, Cryptorchidism, Abnormality of the urinary system, Hypospadias ORPHA:280
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Developmental glauc... OMIM:610199
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Male infertility, Asplenia OMIM:244400
Peters Plus Syndrome
Postnatal growth retardation, Ureteral duplication, Rhizomelia, Hypospadias, Anterior hypopituita... ORPHA:709
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy OMIM:300322
Acromegaly
Anterior hypopituitarism, Abnormality of the endocrine system, Long penis, Dysuria, Pituitary gro... ORPHA:963
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Sotos Syndrome
Decreased fertility, Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesi... ORPHA:821
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal cornea morphology, Dilated cardiomyopathy, Anemia, Bradycardia ORPHA:79404
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, High palate, Short stature, Cryptorchidism, Micropenis, Small for gestational age OMIM:309590
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Opt... OMIM:260920
Rubinstein-Taybi Syndrome 1
Narrow palate, Postnatal growth retardation, High, narrow palate, Hypospadias, High palate, Bilat... OMIM:180849
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ... ORPHA:284339
Hajdu-Cheney Syndrome
Delayed puberty, Hypospadias, Intestinal malrotation, Short stature, Failure to thrive, Cleft pal... ORPHA:955
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Orchitis, Peritonitis OMIM:249100
Renpenning Syndrome 1
Hypospadias, Phimosis, High palate, Anal atresia, Decreased testicular size, Short stature, Renal... OMIM:309500
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... OMIM:105650
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Anteriorly placed anus, Unilateral cleft palate, Absent nipple, Ureteral... ORPHA:1299
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Leukocytosis, Neutroph... OMIM:617099
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligozoospermia, Clitoral hypoplasia OMIM:614813
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio... OMIM:263200
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Norrie Disease
Optic atrophy, Delayed puberty, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Retinal det... ORPHA:649
Wolf-Hirschhorn Syndrome
Hypospadias, Small for gestational age, Severe postnatal growth retardation, Aplasia of the uteru... OMIM:194190
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Primary hypothyroidism, Hypoplastic nipp... OMIM:243800
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... OMIM:619774
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Abnormal cortical gyration, Hypospadias, Abnormal vagina morphology, Gr... OMIM:236680
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Lymphadenopathy, Abnormality of the lymphatic system,... ORPHA:538
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Decreased testicular size, Cryptorchidism, Hypospadias ORPHA:459070
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias ORPHA:93322
Ulbright-Hodes Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Pol... ORPHA:3404
Selective Igm Deficiency
Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased propo... ORPHA:331235
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Cervical neoplasm, Pheochromocytoma, Hypertension... ORPHA:653
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism, Displacement of the urethral meatus, Intrauterine growth retardation, Multicystic... ORPHA:1556
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski... OMIM:617718
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Vesicoureteral reflux, High p... ORPHA:444077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolith... ORPHA:353281
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of... ORPHA:449563
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Pelvic kidney, Renal agenesis, Renal hypoplasia, Horseshoe kidney ORPHA:508498
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcino... OMIM:232220
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi... OMIM:614162
Witteveen-Kolk Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis... OMIM:613406
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation OMIM:261990
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Mediastinal lymphadenopathy, Lymphadenopathy, Right ventricul... ORPHA:199241
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Hunter-Macdonald Syndrome
Short stature, Hypospadias OMIM:611962
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, High, narrow palate, Hematuria, Short uvula, Hypospadias, Bifid scrotum, High pa... OMIM:619475
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Sinus bradycardia OMIM:618397
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Spontaneous, recurrent epista... ORPHA:2072
Coffin-Siris Syndrome 1
Postnatal growth retardation, Duodenal ulcer, Clitoral hypertrophy, Hydroureter, Hypospadias, Ect... OMIM:135900
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Conjunctivitis, Eosinophilia, Neutropenia ORPHA:293173
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hydroureter, Hypospadias, Esophageal atresia, Meckel diverticulum, Dilatation o... OMIM:265380
Microphthalmia, Syndromic 2
Hypospadias, Decreased body weight, Hypothyroidism, Short stature, Bifid uvula, Septate vagina, S... OMIM:300166
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Campomelic Dysplasia
Neonatal short-limb short stature, Hypospadias, Disproportionate short-limb short stature, High p... OMIM:114290
Igg4-Related Kidney Disease
Enlarged kidney, Prostatitis, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Arteritis, S... ORPHA:449395
Blau Syndrome
Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Hypertensio... ORPHA:90340
Coffin-Siris Syndrome 12
Hypospadias, High palate, Hypothyroidism, Short stature, Velopharyngeal insufficiency, Failure to... OMIM:619325
Cystinosis, Nephropathic
Low-molecular-weight proteinuria, Polyuria, Male infertility, Hematuria, Generalized aminoaciduri... OMIM:219800
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Anemia, Pancytopenia, Vasculitis, Hypertension, Hypertrophic cardiomyo... OMIM:615846
Orofaciodigital Syndrome Xiv
Epispadias, Polymicrogyria, Simplified gyral pattern, Cryptorchidism, Micropenis, Unilateral rena... OMIM:615948
Peters-Plus Syndrome
Bilobate gallbladder, Postnatal growth retardation, Ureteral duplication, Rhizomelia, Hypospadias... OMIM:261540
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Conjunctival hyperemia,... ORPHA:509
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Mowat-Wilson Syndrome
Urinary incontinence, Bifid scrotum, Bifid uvula, Septate vagina, Abnormality of the kidney, Agan... ORPHA:2152
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Hypothyroidism, Raynaud phenomenon, Lymphopenia, Autoimmune t... OMIM:607944
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Cervical lymphadenopathy, Jaundice, Hepatomega... OMIM:619573
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Postnatal growth retardation, Abnormality of the kidney, Hypospadias, Recurrent ur... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Postnatal growth retardation, Abnormality of the kidney, Hypospadias, Recurrent ur... ORPHA:353277
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Bifid scrotum, Bifid uvula, Septate vagina, Aganglionic megacolon, Hypospad... ORPHA:261537
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Ectopic kidney, Polymicrogyria, Abnormal external genitalia, High palate, Congenital... OMIM:607872
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Opacification of the cor... OMIM:231005
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Anal stenosis, Hypospadias, Anal atresia OMIM:180500
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Ascites, Lymphadenitis, Splenomegaly, Impaired oxid... OMIM:306400
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Ab... ORPHA:69085
Orofaciodigital Syndrome Type 14
Epispadias, Periventricular heterotopia, Bilateral cryptorchidism ORPHA:434179
Immunodeficiency 82 With Systemic Inflammation
Anemia, Anoperineal fistula, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T ... OMIM:619381
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypertension, Remnants ... OMIM:609049
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Liver Disease, Severe Congenital
Protein-losing enteropathy, Hypospadias, Chronic gastritis, Recurrent urinary tract infections, P... OMIM:619991
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, N... OMIM:614437
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormality of the thyroid gland ORPHA:52417
Mowat-Wilson Syndrome
Abnormality of the kidney, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumerary nipple OMIM:235730
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom... OMIM:120200
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia OMIM:207750
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Acute pancreatitis, Hyperlipidemia, Hepatosplenomegaly, Splenomegaly,... OMIM:238600
Sponastrime Dysplasia
Rhizomelia, Hypospadias, Disproportionate short-limb short stature, Precocious puberty, Hypothyro... ORPHA:93357
Roberts-Sc Phocomelia Syndrome
Stillbirth, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Polycystic kidn... OMIM:268300
Restrictive Dermopathy 1
Stillbirth, Ureteral duplication, Hypospadias, Neonatal death OMIM:275210
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Neonatal death, Renal dysplasia, Cryptorc... OMIM:308205
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pel... ORPHA:261552
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Failure to thrive, Simplified gyral pattern, Anteriorly placed anus, Small for gesta... OMIM:220111
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydronephrosis, Hypospadias, Cryptorchidism OMIM:304120
Alzahrani-Kuwahara Syndrome
Short stature, Hypospadias OMIM:619268
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Congenital adrenal hypoplasia, Aplasia/Hypoplastia of the eccr... ORPHA:1662
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Optic nerve compre... ORPHA:79078
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Pulmonary arterial hypertension, ... ORPHA:667
Branchiooculofacial Syndrome
Postnatal growth retardation, Hypospadias, Renal cyst, Pyloric stenosis, Renal agenesis, Cleft pa... OMIM:113620
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Cataract, Adrenal gland agenesis, Ab... OMIM:273395
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly ORPHA:29073
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Kawasaki Disease
Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Jaundice, Vasculitis, Leukocytos... ORPHA:2331
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Steatorrhea, Biliary cirrhosis, Hepatosp... OMIM:219700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Hennekam Syndrome
Lymphadenopathy, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Renal cyst, Hydronephrosis, Nephroblastoma, Duplication of renal pe... OMIM:312870
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Yunis-Varon Syndrome
Severe failure to thrive, Hypospadias, Hypoplastic nipples, High palate, Absent nipple, Pyloric s... OMIM:216340
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Plague
Hematemesis, Mydriasis, Hepatomegaly, Lymphadenitis, Hypotension, Conjunctival hyperemia, Splenom... ORPHA:707
Cherubism
Macular scar, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Tetrasomy 9P
Infertility, Oligozoospermia, Micropenis, Cryptorchidism ORPHA:3310
Systemic Lupus Erythematosus
Lymphadenopathy, Hypertension, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Hemolytic anemia ORPHA:536
Pallister-Killian Syndrome
Aplasia of the uterus, Intestinal malrotation, Bifid uvula, Small scrotum, Aplasia of the upper v... OMIM:601803
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Astigmatism, Sinus bradycardia OMIM:619482
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Vaginal stricture, Renal tubular epithelial necrosis, Vaginal dryness, Hemat... ORPHA:95455
Microphthalmia, Syndromic 1
Rectal prolapse, Aganglionic megacolon, High, narrow palate, Hypospadias, Hydroureter, Renal hypo... OMIM:309800
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... ORPHA:286
Chikungunya
Cervical lymphadenopathy, Raynaud phenomenon, Epistaxis, Lymphadenopathy ORPHA:324625
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... OMIM:619539
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Lacrimal gland aplasia, Aplasia of the parotid gland, Lacrimal gland hyp... OMIM:149730
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding ORPHA:424016
Holt-Oram Syndrome
Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic stenosis, Left ventricular non... OMIM:142900
Holoprosencephaly 2
Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of the hyaloid vasc... OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term hypoplasia Fkbp4em1(IMPC)Mbp HOM Early adult
Epididymis - MPATH pathological process term acute inflammation Fkbp4em1(IMPC)Mbp HOM Early adult
Prostate gland - MPATH pathological process term hypoplasia Fkbp4em1(IMPC)Mbp HOM Early adult
Testis - MPATH pathological process term aplasia Fkbp4em1(IMPC)Mbp HOM Early adult
Epididymis - MPATH pathological process term chronic inflammation Fkbp4em1(IMPC)Mbp HOM Early adult
Epididymis - MPATH pathological process term necrosis Fkbp4em1(IMPC)Mbp HOM Early adult
Seminal vesicle - MPATH pathological process term hypoplasia Fkbp4em1(IMPC)Mbp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fkbp4.

No publications found that use IMPC mice or data for Fkbp4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fkbp4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fkbp4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fkbp4em1(IMPC)Mbp Exon Deletion Mice, Tissue

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