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Gene: Lhcgr MGI:96783

Gene Summary

Name:

luteinizing hormone/choriogonadotropin receptor

Synonyms:

LH-R, Gpcr19-rs1, Lhr

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
small lung	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	0.00
small thymus	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	0.00
increased leukocyte cell number	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	1.08×10^-11
thrombocytopenia	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	6.48×10^-06
decreased brain size	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	0.00
small heart	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	0.00
small spleen	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	0.00
small stomach	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	0.00
increased lymphocyte cell number	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	8.00×10^-06
small liver	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased mean corpuscular volume	Lhcgr^{tm1(KOMP)Vlcg}	HOM	Early adult	8.27×10^-05

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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.

Phenotype associated images not available

Human diseases caused by Lhcgr 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.

Human diseases associated with Lhcgr (3 diseases)
Human diseases predicted to be associated with Lhcgr (2542 diseases)

The table below shows human diseases associated to Lhcgr by orthology or direct annotation.

Disease	Matching phenotypes	Source
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000

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

Disease	Matching phenotypes	Source
Premature Ovarian Failure 17	Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad...	OMIM:619146
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618014
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Spermatogenic Failure, X-Linked, 4	Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic...	OMIM:301077
Premature Ovarian Failure 16	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level	OMIM:618723
Spermatogenic Failure 28	Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli...	OMIM:618086
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm...	OMIM:202150
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent...	OMIM:615842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Complete Androgen Insensitivity Syndrome	Male infertility, Tall stature, Abnormal uterine cervix morphology, Elevated circulating luteiniz...	ORPHA:99429
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618117
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch...	ORPHA:753
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Androgen Insensitivity Syndrome	Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina...	OMIM:300068
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level	OMIM:616185
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Premature Ovarian Failure 2A	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:300511
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad...	ORPHA:163971
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Spermatogenic Failure 75	Elevated circulating follicle stimulating hormone level	OMIM:619949
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease...	ORPHA:2234
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Premature Ovarian Failure 20	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:619938
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat...	ORPHA:453533
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
7P22.1 Microduplication Syndrome	Cryptorchidism, Abnormality of the kidney	ORPHA:314034
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
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 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ...	ORPHA:90791
Premature Ovarian Failure 8	Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e...	OMIM:615723
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula...	ORPHA:99330
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Premature Ovarian Failure 15	Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati...	OMIM:618096
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level	OMIM:616946
Hypogonadism-Cataract Syndrome	Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level	OMIM:240950
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
46,Xy Sex Reversal 5	Elevated circulating follicle stimulating hormone level	OMIM:613080
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Ovarian Dysgenesis 8	Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir...	OMIM:618187
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia	OMIM:615597
Stt3B-Cdg	Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia	ORPHA:370924
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Premature Ovarian Failure 21	Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll...	OMIM:620311
Autosomal Recessive Amelia	Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:1027
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Caudal Appendage-Deafness Syndrome	Cryptorchidism	ORPHA:1123
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level	OMIM:618901
Stt3A-Cdg	Cryptorchidism, Micropenis, Small scrotum, Failure to thrive	ORPHA:370921
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Renal agenesis, Unilateral cryptorchidism	OMIM:219050
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Premature Ovarian Failure 9	Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul...	OMIM:615724
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D...	OMIM:619761
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis	ORPHA:85274
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:619755
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian...	OMIM:261550
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test...	ORPHA:127
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism	OMIM:274205
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:168593
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t...	OMIM:307200
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Aarskog-Scott Syndrome	Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto...	OMIM:305400
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism,...	OMIM:615542
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98754
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Retrograde ejaculation, Hashimoto thyroiditis, Psoriasiform dermatitis, Unilat...	ORPHA:49041
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infil...	OMIM:131400
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
48,Xxxy Syndrome	Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Cleft palate, Azoos...	ORPHA:96263
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98793
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177904
46,Xx Sex Reversal 1	Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:400045
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male...	ORPHA:90790
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177901
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Abn...	OMIM:614736
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormalit...	ORPHA:2552
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
49,Xxxxy Syndrome	Renal dysplasia, Hypoplasia of penis, Small scrotum, Shyness, Renal hypoplasia/aplasia, Cryptorch...	ORPHA:96264
Hao-Fountain Syndrome	Cryptorchidism, Micropenis, Premature adrenarche	OMIM:616863
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az...	ORPHA:48
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Maternal Uniparental Disomy Of Chromosome 6	Eczema, Thrombocytopenia, Cleft palate, Hydrocele testis, Increased serum testosterone level, Con...	ORPHA:96181
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa...	OMIM:300200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat...	ORPHA:95699
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Cryptorchidism, Small scrotum	ORPHA:1970
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis	ORPHA:2083
Premature Ovarian Failure 1	Increased circulating gonadotropin level	OMIM:311360
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul...	ORPHA:786
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Obesity	OMIM:309585
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Bardet-Biedl Syndrome 5	Micropenis, Hypogonadism, External genital hypoplasia, Obesity	OMIM:615983
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi...	ORPHA:398069
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Small scrotum, Hypogonadism	ORPHA:228390
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size	ORPHA:261483
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se...	ORPHA:2410
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Hypogonadism	ORPHA:2983
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty	ORPHA:217377
Gemignani Syndrome	Hypoplasia of penis, Abnormal testis morphology, Delayed puberty	ORPHA:2074
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia	OMIM:605231
Short Stature-Micrognathia Syndrome	Small scrotum, Cryptorchidism, Cleft palate, High palate, Decreased body weight, Micropenis, Fail...	OMIM:617164
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Müllerian Aplasia And Hyperandrogenism	Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased serum testosterone...	ORPHA:247768
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea...	ORPHA:3464
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd...	ORPHA:3055
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu...	ORPHA:3044
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul...	OMIM:614962
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Frasier Syndrome	Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula...	ORPHA:347
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru...	OMIM:194072
Perrault Syndrome 1	Increased circulating gonadotropin level, Gonadal dysgenesis, High palate, Primary amenorrhea	OMIM:233400
Warburg Micro Syndrome 4	Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size	OMIM:615663
Prader-Willi Syndrome	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:176270
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Ohdo Syndrome	Cryptorchidism, Small scrotum, Proteinuria	OMIM:249620
Prostatic Hyperplasia, Benign	Benign prostatic hyperplasia	OMIM:600082
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Bowen-Conradi Syndrome	Cryptorchidism, Camptodactyly of finger	ORPHA:1270
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Decreased response...	OMIM:275400
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ...	ORPHA:3085
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ...	ORPHA:562
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Central Precocious Puberty In Male	Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn...	ORPHA:649929
Morbid Obesity And Spermatogenic Failure	Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility, Hepatic steatosis	OMIM:615703
Cortisone Reductase Deficiency 2	Premature pubarche	OMIM:614662
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Failure to ...	OMIM:201100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201910
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum	ORPHA:2505
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis...	OMIM:300755
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Isolated Splenogonadal Fusion	Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ...	ORPHA:457083
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Narrow palate, Micropenis, Decreased testicular size	OMIM:614222
3Q13 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system	ORPHA:1621
Mehmo Syndrome	Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic...	ORPHA:85282
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Cryptorchidism, Micropenis, Small scrotum, Microphallus	OMIM:300486
Congenital Multicore Myopathy With External Ophthalmoplegia	Small scrotum, Pneumonia, Cryptorchidism, High palate, Micropenis	ORPHA:98905
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Cleft palate, Congenital megaureter,...	ORPHA:261344
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Oligomenorrhea	OMIM:604931
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Bardet-Biedl Syndrome 4	External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism	OMIM:615982
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Multiple bladder diverticula, Recurrent...	ORPHA:2728
Laurence-Moon Syndrome	Micropenis, Small scrotum, Obesity	OMIM:245800
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Obesity, Renal cyst	OMIM:615987
Warburg Micro Syndrome 2	Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum	OMIM:614225
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	ORPHA:572333
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Hepatic steatosis, Prematur...	ORPHA:2959
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Inguinal hernia	ORPHA:1568
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Intestinal obstruction, Diab...	ORPHA:900
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Nephrotic syndrome, H...	ORPHA:110
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism, Cleft palate	ORPHA:1074
Endocardial Fibroelastosis	Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism	ORPHA:2022
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Eosinophilia, Abnormality of the kidney, Orchitis, Keratitis, Retroperito...	ORPHA:449563
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Recurrent pneumonia, Micro...	OMIM:607143
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Recurrent respiratory infections, Autoimmune thromb...	OMIM:614470
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:607080
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis	OMIM:301900
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Image Syndrome	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis	ORPHA:85173
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Bardet-Biedl Syndrome 16	Renal insufficiency, External genital hypoplasia, Obesity, Renal cyst, Stage 5 chronic kidney dis...	OMIM:615993
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Eosinophilia, Abnormality of the kidney, Abnormality of the thy...	ORPHA:449432
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size	ORPHA:85287
Polydactyly-Myopia Syndrome	Cryptorchidism, Inguinal hernia, Femoral hernia	ORPHA:2917
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy	ORPHA:85201
Temple Syndrome	Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo...	ORPHA:254516
1Q21.1 Microduplication Syndrome	Cryptorchidism, Failure to thrive, Hypospadias	ORPHA:250994
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo...	ORPHA:3411
Gordon Syndrome	Cryptorchidism, High palate, Camptodactyly of finger, Cleft palate	ORPHA:376
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Small for gestational age, Cryptorchidism, High palate, Vesicoureteral reflux, Mic...	OMIM:609625
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo...	OMIM:264600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B...	OMIM:601076
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Myotonic Dystrophy 2	Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Small for gestational age, Elevated circulating luteinizing hormone level, Unilatera...	OMIM:618419
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Small scrotum, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Ambiguous g...	ORPHA:1300
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea	OMIM:191830
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig...	OMIM:612651
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Decreased fertility, Obesity, High palate, Hypogonadism, Abnormal testis morphology	ORPHA:2233
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, Ab...	OMIM:209900
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vag...	OMIM:615989
Leukodystrophy, Hypomyelinating, 21	Cryptorchidism, Failure to thrive, Hypogonadotropic hypogonadism	OMIM:619310
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Cirrhosis,...	ORPHA:1546
Microcephaly 16, Primary, Autosomal Recessive	Knee flexion contracture, Cryptorchidism, Decreased body weight	OMIM:616681
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Small scrotum, Small for gestational age	OMIM:610756
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Alkaptonuria	Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis	ORPHA:56
Recombinant 8 Syndrome	Small scrotum, Abnormality of the kidney, Cryptorchidism, Cleft palate, Hypoplastic male external...	ORPHA:96167
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Cleft palate, Hypogo...	ORPHA:2990
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Flat Face-Microstomia-Ear Anomaly Syndrome	Cryptorchidism, Small scrotum, High, narrow palate	ORPHA:1968
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Orthostatic Hypotension 1	Retrograde ejaculation, High palate, Nocturia, Reduced circulating prolactin concentration	OMIM:223360
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cryptorchidism, Premature pubarche	ORPHA:457205
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Jaundice, Obesity,...	OMIM:614231
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Abnormality of the ureter, Hypohidrosis, Bilateral cleft lip and palate, Hypogonadism	ORPHA:3253
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab...	OMIM:610628
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Splenomegaly, Thrombocyto...	OMIM:607616
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k...	OMIM:262190
Ohdo Syndrome, X-Linked	Small scrotum, Hiatus hernia, Cryptorchidism, High palate, Shawl scrotum, Micropenis, Decreased b...	OMIM:300895
Perineural Cyst	Dyspareunia, Recurrent urinary tract infections, Urinary incontinence, Retrograde ejaculation, Ma...	ORPHA:65250
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Cryptorchidism, Supernumerary nipple	OMIM:619243
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hepatic steatosis, Hypothyroidis...	ORPHA:93111
Meier-Gorlin Syndrome 3	Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Recurrent pneumonia, Microp...	OMIM:613803
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Fetal Minoxidil Syndrome	Cryptorchidism, Umbilical hernia	ORPHA:1918
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia	OMIM:619398
Rudiger Syndrome	Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bicornuate uterus, M...	OMIM:268650
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ...	OMIM:119500
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Retinitis Pigmentosa	Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ...	ORPHA:791
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl...	OMIM:201750
Intellectual Developmental Disorder, Autosomal Recessive 76	Precocious puberty in females	OMIM:619931
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity	ORPHA:363741
Retinitis Pigmentosa 59	Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis, Failure to thrive	OMIM:613861
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Hydronephrosis, High palate, Abnorm...	ORPHA:1655
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism	ORPHA:408
Autosomal Recessive Spastic Paraplegia Type 26	Abnormality of the urinary system, Decreased serum testosterone concentration, Premature ovarian ...	ORPHA:101006
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Abnormal response to corticotropin releasing...	ORPHA:189427
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect...	ORPHA:1643
Microphthalmia, Syndromic 12	Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Bicornuate...	OMIM:615524
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, High palate, Small pituitary g...	OMIM:612702
Wilson-Turner Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity	ORPHA:3459
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid...	ORPHA:95496
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Hypospadias, Cryptorchidism, Micropenis, Failure to thrive	OMIM:612626
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Tetralogy Of Fallot	Cryptorchidism	ORPHA:3303
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Hem...	OMIM:608709
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Secondary amenorrhea, Premature pubarche	OMIM:612847
Macrocephaly, Acquired, With Impaired Intellectual Development	Unilateral cryptorchidism	OMIM:618286
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni...	ORPHA:456328
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Cleft ...	OMIM:300148
Partington Syndrome	Macroorchidism	ORPHA:94083
Paternal Uniparental Disomy Of Chromosome X	Decreased testicular size, Micropenis, Infertility	ORPHA:261524
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi...	ORPHA:264200
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Cryptorchidism, Cleft palate, Shawl scrotum, Breast hypoplasia	OMIM:601353
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism	ORPHA:3306
Meacham Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, H...	ORPHA:3097
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Temple Syndrome	Precocious puberty, Cryptorchidism, Decreased testicular size, Maturity-onset diabetes of the young	OMIM:616222
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate, Failur...	ORPHA:1703
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Multiple Pterygium-Malignant Hyperthermia Syndrome	Cryptorchidism, Small scrotum, Cleft palate	ORPHA:2215
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Obesity, Type II diabetes mellitus, Dis...	ORPHA:2377
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Abnormality of the kidney, Cryptorchidism, Esophagitis, Micropenis	ORPHA:495818
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci...	OMIM:613490
Coffin-Siris Syndrome 8	Cryptorchidism, Failure to thrive, Eczema	OMIM:618362
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Perrault Syndrome 5	High palate, Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:616138
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia	ORPHA:3301
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
H Syndrome	Histiocytosis, Psoriasiform dermatitis, Diabetes mellitus, Abnormality of the kidney, Malabsorpti...	ORPHA:168569
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Amed Syndrome, Digenic	Hypoplasia of the uterus, Failure to thrive, Adrenal hypoplasia	OMIM:619151
Meier-Gorlin Syndrome 8	Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Decreased body weight	OMIM:617564
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atresia, Arthrogryposis ...	OMIM:616258
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ...	OMIM:154230
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Arthritis, Infertility, C...	OMIM:602390
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade...	ORPHA:99889
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtratio...	ORPHA:85450
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Flexion contracture	OMIM:618298
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Micropenis	OMIM:300982
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te...	OMIM:614880
Perlman Syndrome	Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, High, narrow palate, Hyperi...	ORPHA:2849
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young	ORPHA:254531
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity	ORPHA:893
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia	OMIM:617914
Spinal Muscular Atrophy, X-Linked 2	Inguinal hernia, Multiple joint contractures, Hypospadias, Cryptorchidism, Flexion contracture, A...	OMIM:301830
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Arthrogryposis, Distal, Type 1C	Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cryptorchidism, Elbow fle...	OMIM:619110
Intellectual Disability, Wolff Type	Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal intestine morphology	ORPHA:3080
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism, Inguinal hernia	ORPHA:1174
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity	OMIM:615981
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Dystonia 28	Precocious puberty, Hypothyroidism	ORPHA:589618
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism	ORPHA:2489
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame...	OMIM:212840
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty	ORPHA:254525
Satoyoshi Syndrome	Hypoplasia of the uterus, Malabsorption, Amenorrhea	OMIM:600705
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Cryptorchidism, Arthrogryposis multiplex congenita, Flexion contracture of finger, Small for gest...	ORPHA:319332
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal...	ORPHA:2970
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, Cleft palate...	ORPHA:397590
Carney Complex	Neoplasm of the stomach, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, L...	ORPHA:1359
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, High, narrow palate, Obesity, Azoospermia, Abnormality of the hyp...	ORPHA:2183
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity	ORPHA:177910
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hypothyroidism, Central, With Testicular Enlargement	Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t...	OMIM:300888
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glos...	ORPHA:861
Distal Duplication 15Q	Omphalocele, Anal atresia, Camptodactyly of finger, Cryptorchidism, High palate, Abnormality of f...	ORPHA:1707
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab...	ORPHA:210136
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Precocious puberty	ORPHA:457260
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Robinow Syndrome	Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo...	ORPHA:97360
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Anal atresia	ORPHA:1580
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Cryptorchidism, Hypoplastic male external genitalia	OMIM:618823
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Hydatidiform Mole	Hyperthyroidism, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Trisomy 4P	Cryptorchidism, Hypospadias	ORPHA:1738
Imagawa-Matsumoto Syndrome	Cryptorchidism, Birth length greater than 97th percentile, Anteriorly placed anus, Overgrowth, Ca...	OMIM:618786
Alazami-Yuan Syndrome	Cryptorchidism, High palate	OMIM:617126
Non-Distal Duplication 10Q	Cryptorchidism, Abnormality of the urinary system, High palate	ORPHA:1695
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Cleft palate, Renal cyst, ...	OMIM:618454
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Prolonged neonatal jaundice	OMIM:618512
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
N Syndrome	Cryptorchidism, Leukemia, Hypospadias	OMIM:310465
Septopreoptic Holoprosencephaly	Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus	ORPHA:280195
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter...	ORPHA:495875
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Cryptorchidism, Arthrogryposis multiplex congenita	OMIM:618766
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty	ORPHA:141333
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici...	ORPHA:672
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Abnormal circulating leptin concentra...	ORPHA:2298
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Abnormali...	ORPHA:95706
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Hepatic steatosis, Bifid uvula, Penoscrotal...	OMIM:270400
Mmep Syndrome	Cryptorchidism	ORPHA:3434
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Caudal Duplication	Abnormal penis morphology, Omphalocele, Ureteral duplication, Cryptorchidism, Uterus didelphys, I...	ORPHA:1756
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch...	OMIM:614732
Lead Poisoning	Decreased female libido, Skin rash, Small for gestational age, Abnormality of the menstrual cycle...	ORPHA:330015
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism	OMIM:608540
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo...	ORPHA:2795
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Birk-Aharoni Syndrome	Duplicated collecting system, Macrocytic anemia, Cryptorchidism, Micropenis, Failure to thrive	OMIM:620071
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Primary a...	OMIM:244200
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Rabson-Mendenhall Syndrome	Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p...	ORPHA:769
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea	OMIM:184700
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, Inguinal hernia, 3-Methylglutaric aciduria	OMIM:250951
Isolated Hemihyperplasia	Cryptorchidism, Inguinal hernia	ORPHA:2128
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Woolly Hair Nevus	Precocious puberty	ORPHA:79414
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Arthrogryposis multiplex congenita, High palate, Camptodactyly	OMIM:618393
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Midshaft hypospadias, High pal...	ORPHA:2863
Denys-Drash Syndrome	Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Nephropathy, Nep...	ORPHA:220
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Hyperinsulinemia, Anemia, Retrograde ejaculation, Rhinitis, Noct...	ORPHA:230
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism, Obesity	OMIM:601794
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, High palate, Shawl scrotum, Micropenis, Decreased testicular size	OMIM:615433
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Cryptorchidism, Inguinal hernia	ORPHA:2958
Burkitt Lymphoma	Intestinal obstruction, Abnormality of the ovary	ORPHA:543
8p23.1 deletion syndrome	Cryptorchidism, Congenital diaphragmatic hernia	DECIPHER:39
Li-Campeau Syndrome	Patent ductus arteriosus, Cryptorchidism, Micropenis, Hypothyroidism	OMIM:619189
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young	ORPHA:96184
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Cryptorchidism, Abnormal mesentery morphology, Renal hypoplasia, Shawl scrotum	ORPHA:2256
Spermatogenic Failure 17	Male infertility	OMIM:617214
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Hypospadias	OMIM:101805
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Cryptorchidism, Failure to thrive	OMIM:604317
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed pube...	ORPHA:100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar...	OMIM:146255
Bardet-Biedl Syndrome 22	Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia	ORPHA:1381
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Pituitary Gigantism	Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre...	ORPHA:99725
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Micropenis, Flexion contracture, Hypospadias	OMIM:618815
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl...	OMIM:314300
Ollier Disease	Precocious puberty	ORPHA:296
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Micropenis	OMIM:619180
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty	ORPHA:293181
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy	ORPHA:1192
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Abnormality of the tongue muscle, Cryptorchidism, Abnormality of con...	ORPHA:370968
Prieto Syndrome	Cryptorchidism, Inguinal hernia	OMIM:309610
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
48,Xxyy Syndrome	Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morp...	ORPHA:10
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Acne, Increased body weight, Increased circulating cortis...	OMIM:615830
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Patent ductus arteriosus, Renal hypoplasia, Obe...	OMIM:615996
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Chronic mucocutaneous can...	ORPHA:3453
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Cleft palate	OMIM:612370
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo...	ORPHA:281090
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Meckel Syndrome, Type 8	Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, Enlarged ...	OMIM:613885
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Pancreatitis	ORPHA:79084
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy...	ORPHA:528
Autosomal Dominant Omodysplasia	Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia	ORPHA:93328
Optic Pathway Glioma	Precocious puberty	ORPHA:2086
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Cryptorchidism, Patent d...	ORPHA:2473
Acrocallosal Syndrome	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Tall stature	ORPHA:36
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Obesity	OMIM:615985
Chromosome Xp11.23-P11.22 Duplication Syndrome	Precocious puberty	OMIM:300801
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Hernia of the abdominal wall, Hypospadias	ORPHA:1762
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Whim Syndrome 1	Abnormality of female external genitalia, Abnormal morphology of female internal genitalia	OMIM:193670
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega...	OMIM:226990
Alkuraya-Kucinskas Syndrome	Micropenis, Small scrotum, High palate	OMIM:617822
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis	ORPHA:2772
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Cryptorchidism, Macroglossia, Abdominal obesity, Hypogonadism, Delayed puberty, Micr...	OMIM:300354
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Camptobrachydactyly	Camptodactyly of finger, Septate vagina	ORPHA:1319
Fetal Akinesia Deformation Sequence 2	Cryptorchidism, Flexion contracture, High palate, Cleft palate	OMIM:618388
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen...	ORPHA:2237
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac...	OMIM:617575
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, Disproportionate tall stature, High pa...	ORPHA:3063
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty	OMIM:619877
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism	OMIM:616816
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Anal stenosis, Multicystic kidney dysplasia, Cry...	ORPHA:2052
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Intellectual Developmental Disorder, X-Linked 93	Cryptorchidism	OMIM:300659
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Diabetes mellitus, Paradoxical incre...	ORPHA:96253
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Cornelia De Lange Syndrome 5	Cryptorchidism, Cleft palate, Truncal obesity, Hypogonadism, High palate, Micropenis, Decreased t...	OMIM:300882
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Inguinal hernia, Hypothyroidism	OMIM:613970
Weaver Syndrome	Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Tall stature	ORPHA:3447
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Anemia	OMIM:620135
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma	OMIM:618840
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Cryptorchidism, Hypothyroidism,...	OMIM:606593
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Abnormality of the ureter, Obesity,...	ORPHA:3409
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ...	OMIM:150550
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Flexion contracture, Hypoplastic labia majora, Camptodactyly, Vaginal atresia, Fused labia minora	OMIM:207410
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy...	ORPHA:100026
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm, Hypohidrosis	OMIM:308100
Diabetic Embryopathy	Ureteral duplication, Cryptorchidism, Cleft palate, Micropenis, Abnormal morphology of female int...	ORPHA:1926
Warburg Micro Syndrome 1	Cryptorchidism, Failure to thrive, External genital hypoplasia	OMIM:600118
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Preeclampsia	Increased body mass index, Small for gestational age, Proteinuria, Chronic kidney disease, Polycy...	ORPHA:275555
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, High palate, Hypogonadotropic hypogonadism, Furrowed tongue	ORPHA:1387
Intellectual Developmental Disorder, X-Linked 106	Cryptorchidism, Hypospadias, Decreased testicular size	OMIM:300997
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty	OMIM:300958
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Increased body weight	ORPHA:589905
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
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 1	Female infertility	OMIM:615774
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:261102
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Cryptorchidism, Micropenis	OMIM:614684
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Cryptorchidism, Umbilical hernia, High, narrow palate	OMIM:273390
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Overweight, Cryptorchidism, High palate, Delayed puberty	ORPHA:486815
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia...	OMIM:246200
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy...	OMIM:268020
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty	OMIM:619356
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec...	ORPHA:813
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microglossia, Renal hypop...	OMIM:607932
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena...	OMIM:613390
Distal Duplication 18Q	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, High palate, Abnormality of female ...	ORPHA:1716
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Pneumonia, Abnormality o...	ORPHA:229717
Pierpont Syndrome	Cryptorchidism, Micropenis, Failure to thrive, Decreased body weight	OMIM:602342
Filippi Syndrome	Ambiguous genitalia, Cryptorchidism, Decreased body weight	OMIM:272440
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate, Primary amenorrhea, Delayed puberty,...	OMIM:147950
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Malabsorption, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:229050
Congenital Myopathy 19	Cryptorchidism, Renal atrophy, High palate, Hydronephrosis	OMIM:618578
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Hypospadias	OMIM:616910
Omodysplasia 2	Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, La...	OMIM:164745
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ureterocele	OMIM:616734
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus	OMIM:300957
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp...	OMIM:300219
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm...	OMIM:308240
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Abnormal morphology of female internal genitalia, Congenital diaphragmatic hernia	ORPHA:2141
Intellectual Developmental Disorder, Autosomal Recessive 44	Bifid uvula, Shawl scrotum	OMIM:615942
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena...	OMIM:609757
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr...	OMIM:269150
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High palate, Macroorchidism...	ORPHA:284180
Schaaf-Yang Syndrome	Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Obesity, Hypogonadism, Camptod...	OMIM:615547
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, Arthrogryposis multiplex congenita, High palate	OMIM:611890
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Branchial Arch Syndrome, X-Linked	Cryptorchidism, High palate, High, narrow palate	OMIM:301950
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Mirage Syndrome	Lymphopenia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Adr...	OMIM:617053
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis	OMIM:617516
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Abruzzo-Erickson Syndrome	Hypospadias, Cryptorchidism, Coronal hypospadias, Abnormal localization of kidney, Cleft palate	ORPHA:921
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Testicular atrophy, Intestinal malrotation, Congenital diaphragmatic hernia	OMIM:601163
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Overweight, High palate, Micropenis, Decre...	ORPHA:457240
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Freeman-Sheldon Syndrome	Cryptorchidism, Failure to thrive, Camptodactyly of finger, Hernia	ORPHA:2053
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hypoplastic female external genitalia	OMIM:618577
Diencephalic Syndrome	Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui...	ORPHA:1672
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus	ORPHA:2578
Carpenter Syndrome	External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct...	ORPHA:65759
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Cirrhosis, Atrial septal defect,...	ORPHA:101028
Ulnar-Mammary Syndrome	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Decreased fertili...	ORPHA:3138
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Cryptorchidism, Obesity	OMIM:615633
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Trisomy 5P	Hypoplasia of penis, Obesity	ORPHA:1742
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Arthrogryposis multiplex congenita, Flexion contracture, High palate	ORPHA:178148
Chung-Jansen Syndrome	Cryptorchidism, High palate, Obesity	OMIM:617991
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Bifid scrotum, Hypoplastic labia minora, Small scrotum, Hypoplastic labia majora	ORPHA:324540
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Cryptorchidism, Horseshoe kidney, High palate, Hypoplastic male external genitalia, Failure to th...	ORPHA:502434
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia	OMIM:620073
Pierpont Syndrome	Cryptorchidism, Abnormal subcutaneous fat tissue distribution, Small for gestational age	ORPHA:487825
Boomerang Dysplasia	Omphalocele, Cryptorchidism, Decreased response to growth hormone stimulation test	ORPHA:1263
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis...	OMIM:103900
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Failure to thrive, Hepatomegaly	OMIM:618958
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,...	ORPHA:300373
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly	OMIM:613730
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ...	OMIM:618165
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc...	OMIM:130650
Duplication Of Urethra	Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis...	ORPHA:237
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Paroxysmal bursts of laughter, Obe...	OMIM:309580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr...	ORPHA:79259
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin, Hyperaldosteronism, Dexamethaso...	ORPHA:369929
Crandall Syndrome	Hypoplasia of penis, Abnormal testis morphology, Hypogonadism	ORPHA:202
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Septate v...	OMIM:194080
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Obesity, Renal hypoplasia, Micropenis	ORPHA:171839
Silver-Russell Syndrome 3	Unilateral cryptorchidism, Small for gestational age, Elbow contracture, Patent ductus arteriosus...	OMIM:616489
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ova...	ORPHA:276280
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Co...	ORPHA:94065
Tonne-Kalscheuer Syndrome	Hypospadias, Shyness, Cryptorchidism, Velopharyngeal insufficiency, Micropenis, Decreased testicu...	OMIM:300978
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Cryptorchidism,...	ORPHA:2872
Genitopatellar Syndrome	Anal stenosis, Small scrotum, Multicystic kidney dysplasia, Enlarged labia minora, Cryptorchidism...	OMIM:606170
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
19P13.3 Microduplication Syndrome	Precocious puberty, Unilateral cryptorchidism	ORPHA:447980
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism	OMIM:614613
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Cryptorchidism, Congenital pyloric atresia, Hyperhidrosis, Shagreen patch	ORPHA:2617
Babesiosis	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Recurrent pharyngitis, Leukopenia, Hepati...	ORPHA:108
Neurofibromatosis-Noonan Syndrome	Cryptorchidism, Abnormality of the lymphatic system	ORPHA:638
3-Methylglutaconic Aciduria, Type V	Hypospadias, Cryptorchidism, Microvesicular hepatic steatosis, Normochromic microcytic anemia, 3-...	OMIM:610198
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Cryptorchidism, Camptodactyly of finger, High palate, Decreased testicular size	ORPHA:85279
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru...	OMIM:604168
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, Obesity, Hydronephrosis, High palate, Micropenis, Decreased testicu...	OMIM:619185
Cednik Syndrome	Nephrotic syndrome, Hypogonadism, Proteinuria	ORPHA:66631
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Pancytopenia, Renal insufficiency, Cryptorchidism, Renal hypo...	ORPHA:85321
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm	ORPHA:145
Seckel Syndrome 5	Hypospadias, Cryptorchidism, Cleft palate, High palate, Enamel hypoplasia, Clitoral hypertrophy	OMIM:613823
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Macroglossia, Cryptorchidism, Micropenis, Left ventricular hypertrophy	OMIM:613156
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Distal Monosomy 7Q36	Cryptorchidism, Hypoplasia of penis, Hernia, Cleft palate	ORPHA:1636
Chromosome 16Q22 Deletion Syndrome	Small for gestational age, Hypospadias, Cryptorchidism, High palate, Failure to thrive	OMIM:614541
2Q23.1 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis, Paroxysmal bursts of laughter	ORPHA:228402
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, ...	OMIM:616050
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hyp...	OMIM:601186
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenit...	OMIM:618484
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Hypospadias, Eczema, Decreased response to growth hormone stimulation test, Bilateral cryptorchid...	OMIM:618336
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Small for gestational age, Cryptorchidism, Congenital contracture, Joint contrac...	ORPHA:352490
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys...	OMIM:615109
Camptobrachydactyly	Congenital finger flexion contractures, Urinary incontinence, Septate vagina	OMIM:114150
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, High palate, Decreased response to growth hormone stimulation test, Del...	OMIM:615866
Apert Syndrome	Cryptorchidism, Esophageal atresia, Pyloric stenosis, Cleft palate, Narrow palate, Hyperhidrosis,...	OMIM:101200
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent pn...	OMIM:616576
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma	OMIM:619908
Aminopterin Syndrome Sine Aminopterin	Inguinal hernia, Cryptorchidism, Cleft palate, High palate, Decreased body weight, Umbilical hern...	OMIM:600325
Ruvalcaba Syndrome	Cryptorchidism, Inguinal hernia, Delayed puberty	OMIM:180870
X-Linked Intellectual Disability, Seemanova Type	Small for gestational age, Cryptorchidism, High palate, Hypogonadism	ORPHA:85323
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Congenital Myopathy 9A	Cryptorchidism, Obesity	OMIM:618822
Hand-Foot-Genital Syndrome	Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel...	OMIM:140000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Micropenis, Childhood-onset truncal obesity	OMIM:610156
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Cryptorchidism	OMIM:619595
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Ambiguou...	ORPHA:452
Clark-Baraitser syndrome	Macroorchidism, Exaggerated median tongue furrow, Obesity, Tall stature	OMIM:300602
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus di...	OMIM:618820
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc...	ORPHA:2470
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Abnormality of the kidney	ORPHA:466926
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
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
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo...	OMIM:615234
Cystic Fibrosis	Sinusitis, Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, N...	ORPHA:586
Alg6-Cdg	Puberty and gonadal disorders, Increased circulating androgen concentration	ORPHA:79320
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Cryptorchidism, M...	OMIM:615381
Morm Syndrome	Truncal obesity, Micropenis	ORPHA:75858
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Fragile X Syndrome	Macroorchidism	ORPHA:908
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age	ORPHA:137634
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Ureteral agenesis, Bilateral renal...	OMIM:617667
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ...	OMIM:264300
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis, Omphalocele, Vaginal atresia	OMIM:248450
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cryptorchidism, Hydronephrosis	OMIM:619797
Hereditary Bullous Dystrophy, Macular Type	Decreased testicular size, Cryptorchidism, Pneumonia, External genital hypoplasia	ORPHA:1867
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve...	OMIM:608800
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Micrope...	OMIM:615849
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Intellectual Developmental Disorder, Autosomal Dominant 51	Recurrent otitis media, Cryptorchidism, Failure to thrive, Unilateral cryptorchidism	OMIM:617788
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Inguina...	OMIM:181450
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Immunodeficiency 92	Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory...	OMIM:619652
Fg Syndrome 3	Cryptorchidism, Joint contracture, Pyloric stenosis	OMIM:300406
German Syndrome	Camptodactyly of finger, Cryptorchidism, High palate, Ambiguous genitalia, Arthrogryposis multipl...	ORPHA:2077
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg...	OMIM:222300
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Micropenis, Hypoplasia of t...	OMIM:151100
19P13.12 Microdeletion Syndrome	Precocious puberty, Cryptorchidism, Hypospadias, Hypothyroidism	ORPHA:254346
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Small for gestational age, Protruding tongue, Cryptorchidism, High,...	OMIM:612289
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism	OMIM:215470
Luscan-Lumish Syndrome	Overgrowth, Irregular menstruation, Obesity, Polycystic ovaries	OMIM:616831
Rin2 Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, High palate, Umb...	ORPHA:217335
Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis	ORPHA:461
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec...	ORPHA:887
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys...	OMIM:615108
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Recurrent pneum...	OMIM:619644
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,...	OMIM:617805
Rahman Syndrome	Cryptorchidism, Camptodactyly	OMIM:617537
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Flexion contracture, Renal hypoplasia, Abdominal obesi...	OMIM:619321
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Cle...	OMIM:273395
Orofaciodigital Syndrome Type 4	Monorchism, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Submucous cleft hard p...	ORPHA:2753
Microphthalmia, Syndromic 8	Cryptorchidism, Cleft palate	OMIM:601349
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve...	OMIM:612561
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Insulin-resistant diabetes mell...	ORPHA:293967
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys...	OMIM:158350
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Eczema, Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity, R...	ORPHA:464288
Basilicata-Akhtar Syndrome	Precocious puberty	OMIM:301032
Trisomy 13	High, narrow palate, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Cleft p...	ORPHA:3378
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasi...	ORPHA:2874
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, Pancreatitis, Anemia	ORPHA:79312
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Slc35A2-Cdg	Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Abnormal rena...	ORPHA:356961
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal...	ORPHA:3157
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Chromosome 6Q11-Q14 Deletion Syndrome	Bilateral cryptorchidism, Umbilical hernia, Inguinal hernia, High palate	OMIM:613544
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, Wrist flexion contr...	OMIM:300055
Fetal Hydantoin Syndrome	Bifid scrotum, Cryptorchidism, Cleft palate	ORPHA:1912
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Malabsorpti...	OMIM:600955
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty	ORPHA:2788
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, External genital hypoplasia, Truncal obesity, Hypogonadism, ...	ORPHA:3041
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent respiratory infections, Splenomegaly, Thrombocytopenia, Rec...	ORPHA:47612
Femoral-Facial Syndrome	Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Cleft palate, Abnormal l...	ORPHA:1988
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea...	ORPHA:2348
Immunodeficiency 46	Recurrent sinopulmonary infections, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Cryptorchidism, Joint contracture	OMIM:615419
Allan-Herndon-Dudley Syndrome	Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Crypt...	ORPHA:59
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Cleft palate	OMIM:614838
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism	OMIM:210700
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorch...	ORPHA:2311
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Spastic Paraplegia 26, Autosomal Recessive	Decreased serum testosterone concentration	OMIM:609195
Congenital Primary Megaureter	Abnormal penis morphology, Nephrolithiasis, Congenital megaureter, Vesicoureteral reflux, Microsc...	ORPHA:617
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Gapo Syndrome	Dysmenorrhea, Nephrolithiasis, Oligozoospermia, Hypogonadism, Amenorrhea	ORPHA:2067
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Cryptorchidism, High palate, Failure to thrive, HbH hemoglobin	ORPHA:98791
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, Femoral hernia, High palate	OMIM:620316
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Small for gestational age, Supernumerary nipple	OMIM:617635
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Cleft palate, Hypoplasia of the uterus, ...	OMIM:309801
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Renal hypoplasia, Cleft palate,...	OMIM:219000
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormality of the kidney, Cryptorchidism, 3-Methylglutaconic aciduria...	ORPHA:1194
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism	ORPHA:1295
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Joint contr...	OMIM:175700
Oculocerebrocutaneous Syndrome	Cryptorchidism, Cleft palate	OMIM:164180
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Cryptorchidism, Shawl scrotum	ORPHA:1778
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab...	ORPHA:290
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren...	ORPHA:169154
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Combined Oxidative Phosphorylation Deficiency 54	Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea	OMIM:619737
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Intellectual Developmental Disorder, Autosomal Dominant 21	Cryptorchidism, Patent ductus arteriosus, Cleft palate	OMIM:615502
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon...	ORPHA:3032
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism...	OMIM:249270
Cln3 Disease	Urinary bladder sphincter dysfunction, Increased circulating androgen concentration	ORPHA:228346
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Bloom Syndrome	Uveitis, Otitis media, Stomach cancer, Male infertility, Decreased proportion of CD4-positive T c...	ORPHA:125
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Arthritis, Impotence, Cirrhosis, Neutropenia, Lymphopenia, Anemia,...	OMIM:604250
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Leukopenia, Cardiomyopathy, Pancreatitis, Anemia	ORPHA:27
Chromosome 18P Deletion Syndrome	Small for gestational age, Cryptorchidism, Gonadal dysgenesis, High palate, Micropenis, Decreased...	OMIM:146390
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Acu...	ORPHA:99812
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi...	OMIM:605309
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,...	OMIM:112200
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	ORPHA:95613
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Abno...	ORPHA:79124
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Leukopenia, Pleuritis, Thrombocytopenia	OMIM:152700
Atelis Syndrome 1	Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, High palate, Atrial septal defect,...	OMIM:620184
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism, Inguinal hernia	ORPHA:2856
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Tularemia	Brain abscess, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Th...	ORPHA:3392
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter	OMIM:617577
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea	OMIM:264270
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism	OMIM:618917
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive	ORPHA:217346
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Renal hypoplasia/aplasia, C...	ORPHA:261265
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m...	ORPHA:2075
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pyloric s...	ORPHA:912
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cryptorc...	ORPHA:1145
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine...	OMIM:619281
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney	OMIM:218350
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Failure to th...	OMIM:614813
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Epididymitis...	ORPHA:2035
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Cryptorchidism, Renal hypoplasia, Delayed puberty, Hypothyroidism	OMIM:616817
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Cryptorchidism, High palate, Hypospadias, Renal dysplasia	OMIM:300004
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ...	ORPHA:238459
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft ...	ORPHA:250999
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidis...	OMIM:618280
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Thrombocytopenia, Cholestasis, Ascites, Protein-losing enteropathy,...	OMIM:608104
Immunodeficiency 27A	Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric l...	OMIM:209950
Nicolaides-Baraitser Syndrome	Cryptorchidism, Abnormal testis morphology, Eczema, High, narrow palate	ORPHA:3051
Qazi-Markouizos Syndrome	Cryptorchidism, High, narrow palate	ORPHA:3010
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Splenomegal...	ORPHA:251066
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hepatic steatosis, Pancytopenia, Small scrotum, Small for gestational age, Intestinal malrotation...	OMIM:613658
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism	ORPHA:404451
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Cryptorchidism, Failure to thrive	ORPHA:88639
Heart-Hand Syndrome Type 2	Cryptorchidism	ORPHA:1350
Congenital Fibrinogen Deficiency	Volvulus, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size	ORPHA:335
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur...	ORPHA:37202
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Cryptorchidism, Micropenis	OMIM:612447
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Renal hypoplas...	ORPHA:85284
Aarskog-Scott Syndrome	Cryptorchidism, Cleft palate, Shawl scrotum	ORPHA:915
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia	ORPHA:500159
King-Denborough Syndrome	Bilateral cryptorchidism, Cryptorchidism, Failure to thrive, High palate	OMIM:619542
Oeis Complex	Omphalocele, Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambig...	OMIM:258040
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Cleft palate, Narrow pala...	ORPHA:79500
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal...	OMIM:614527
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Decreased liver function, Thrombocytopenia	ORPHA:67048
Clcn4-Related X-Linked Intellectual Disability Syndrome	Cryptorchidism, Inguinal hernia	ORPHA:485350
Acrodysostosis	Hypogonadism, Cryptorchidism, Irregular menstruation, Abnormality of female external genitalia	ORPHA:950
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Hydrolethalus	Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian tube morphology, Bi...	ORPHA:2189
Non-Distal Duplication 13Q	Cryptorchidism, High palate, Hernia	ORPHA:1702
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper...	ORPHA:231580
X-Linked Intellectual Disability, Pai Type	Hydrocele testis, Cryptorchidism, Inguinal hernia	ORPHA:85322
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia...	OMIM:620365
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Bilateral cryptorchidism, Pyloric stenosis, High palate	ORPHA:314575
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Bicornuate uterus, Shawl scrotum	OMIM:145420
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Cryptorch...	OMIM:617201
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Abnormali...	ORPHA:3376
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Renal agenesis, Cryptorchidism, Splenomegaly, Hypercalci...	OMIM:618440
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Failure to thrive, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrota...	ORPHA:2538
Ring Chromosome 12 Syndrome	Small for gestational age, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine le...	ORPHA:1439
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Hypoplasia of penis	ORPHA:3082
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:619522
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Peritonitis, Cervical lymphade...	ORPHA:2686
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s...	ORPHA:363528
Pallister-Hall Syndrome	Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased...	OMIM:146510
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Ankle flexion contracture, Cryptorchidism, Knee flexion contracture, Sacral lipoma, ...	ORPHA:435938
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c...	ORPHA:210548
Blepharonasofacial Malformation Syndrome	Cryptorchidism, Inguinal hernia, Cleft palate	ORPHA:1252
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal localization of...	ORPHA:819
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
8Q22.1 Microdeletion Syndrome	Cryptorchidism, Submucous cleft hard palate, Hypogonadism, Camptodactyly of finger	ORPHA:178303
Fanconi Anemia, Complementation Group A	Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Sma...	OMIM:227650
Gorlin Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism	ORPHA:377
Craniosynostosis With Fibular Aplasia	Cryptorchidism	OMIM:218550
Ganglioneuroma	Neoplasm of the adrenal gland, Hamartomatous polyposis, Multiple intestinal neurofibromatosis, Ab...	ORPHA:251992
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the ...	ORPHA:96092
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Abnormality of the parathyroid gland, Abnormal localization of kidney, Cleft palate	ORPHA:3429
14Q24.1Q24.3 Microdeletion Syndrome	Cryptorchidism, Intestinal malrotation, Ectopic kidney	ORPHA:401935
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase...	OMIM:300946
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft palate, Sex reversal, Ad...	OMIM:611812
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa...	OMIM:127550
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis	OMIM:618060
Renal Nutcracker Syndrome	Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Infertility...	ORPHA:71273
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Xq12-Q13.3 Duplication Syndrome	Cryptorchidism, Decreased serum insulin-like growth factor 1	ORPHA:314389
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate, Failure to thrive	ORPHA:2115
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy...	ORPHA:90674
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth...	OMIM:616629
Snijders Blok-Fisher Syndrome	Cryptorchidism	OMIM:618604
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm...	OMIM:613987
Carpenter Syndrome 1	Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hydronephrosis	OMIM:201000
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t...	ORPHA:722
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples	OMIM:616001
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana...	OMIM:100100
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Pelvic mass, Precocious puberty, Jaundice, Ovarian neopla...	ORPHA:370348
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo...	OMIM:230800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Lipodystrophy, Cryptorchidism, Flexion contracture, Atypical scarring of skin, Atrophic scars, Te...	ORPHA:75496
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Aminoacidu...	OMIM:214110
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati...	ORPHA:264580
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Hepatocellular adenoma, Perineal hypospadias, Hypoplastic nipples,...	ORPHA:3134
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Kapur-Toriello Syndrome	Intestinal malrotation, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Cleft ...	OMIM:244300
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic syst...	ORPHA:464329
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Pyloric stenosis, Birth length greater than 97th percentile, Flexion contracture,...	OMIM:310400
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure to thrive	ORPHA:412035
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Thro...	OMIM:606003
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired r...	OMIM:231200
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abnormality of the menstru...	ORPHA:556
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
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopeni...	OMIM:603467
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Ves...	OMIM:617159
Martin-Probst Syndrome	Bifid scrotum, Pancytopenia, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplast...	OMIM:300519
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism	ORPHA:2701
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Tall stature, Diabetes mellitus, Acute pancreatitis, Lipodys...	OMIM:608594
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Pancytopenia, Hypospadias, Eczema, Cryptorchidism, Atopic dermatitis, Recurrent otiti...	OMIM:620331
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Vesicoureteral reflux, Abnormality of the kidney	ORPHA:261652
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Arthrogryposis, Distal, Type 1A	Hip contracture, Cryptorchidism, Elbow flexion contracture, Knee flexion contracture, Camptodacty...	OMIM:108120
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Prolactin Deficiency, Isolated	Reduced circulating prolactin concentration	OMIM:264110
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Cry...	ORPHA:3027
Beckwith-Wiedemann Syndrome	Ureteral duplication, Large for gestational age, Cardiomegaly, Hepatoblastoma, Vesicoureteral ref...	ORPHA:116
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia, Obesity	OMIM:600151
Cree Mental Retardation Syndrome	Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate	OMIM:606851
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m...	ORPHA:98870
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:614727
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Patent ductus arteriosus, Camptodactyly, Joint contracture of the hand, Hydroneph...	OMIM:179613
Schuurs-Hoeijmakers Syndrome	Patent ductus arteriosus, Cryptorchidism, Volvulus	OMIM:615009
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ...	ORPHA:284339
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Neutropenia, Failure to thrive, Homo...	OMIM:614857
Osteoglosphonic Dysplasia	Cryptorchidism, Inguinal hernia, Failure to thrive in infancy	ORPHA:2645
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardial effusion, ...	ORPHA:77259
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ...	OMIM:300707
9P13 Microdeletion Syndrome	Precocious puberty, External genital hypoplasia	ORPHA:324313
Chand Syndrome	Hydroureter, Cleft palate, Hypohidrosis, Bifid tongue, Imperforate hymen	ORPHA:1401
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C...	ORPHA:2510
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, ...	ORPHA:85293
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Leukopenia, Hepatic ...	OMIM:613989
Intellectual Developmental Disorder, Autosomal Dominant 52	Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, High palate, Hyp...	OMIM:617796
3Mc Syndrome 3	Bifid scrotum, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penoscrotal hypospadias	OMIM:248340
Autosomal Dominant Centronuclear Myopathy	Cryptorchidism, Urinary incontinence, Pyloric stenosis, Large for gestational age	ORPHA:169189
Noonan Syndrome 8	Eczema, Large for gestational age, Cryptorchidism, Left ventricular hypertrophy, Failure to thrive	OMIM:615355
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L...	OMIM:304790
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty	ORPHA:496790
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Knee f...	OMIM:214150
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Blepharophimosis-Impaired Intellectual Development Syndrome	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Recurrent pneumonia, Enuresis, L...	OMIM:619293
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Failure to thrive, Proximal renal tubular acidosis	OMIM:615824
Multifocal Atrial Tachycardia	Cryptorchidism, Hypothyroidism	ORPHA:3282
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat...	OMIM:151660
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Renal agenesis, Rectovaginal fistula, Unilateral renal agenesis	OMIM:608980
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Congenital diaphragmatic hernia, Malrotation of small bow...	ORPHA:139466
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma...	OMIM:615415
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Tall stature, Acute pancreatitis, Lipodystrophy, Reduced int...	OMIM:269700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hydroureter, Absence of Stensen duct, Decreased response to growth hormone stimula...	OMIM:604292
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Malabsorption, Abnormal lung m...	ORPHA:47
Chromosome 3Pter-P25 Deletion Syndrome	Small for gestational age, Cryptorchidism, Abnormal renal morphology, High palate, Anal atresia	OMIM:613792
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	High palate, Unilateral cryptorchidism	OMIM:618862
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Dilated third ventricle, Flexion contracture, Hypogonadism, Micropeni...	ORPHA:500055
Tyshchenko Syndrome	Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow palate, Cleft palate, High palate	OMIM:615102
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor...	ORPHA:2357
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi...	ORPHA:400
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ...	OMIM:601820
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Hydronephrosis, Type I diabetes mellitus	OMIM:619269
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic...	OMIM:614700
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Narrow palate, Micropenis, Slender build, Hydronephrosis	ORPHA:364028
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Micropenis, Small for gestational age	OMIM:619847
Coffin-Siris Syndrome 2	Inguinal hernia, Cryptorchidism, Cleft palate, Macroglossia, High palate	OMIM:614607
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Anemia, Neutropenia	OMIM:618067
Becker Nevus Syndrome	Hypoplastic labia minora, Abnormality of the scrotum, Supernumerary nipple	ORPHA:64755
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Patent ductus arteriosus, Obesity, Proportionate tall stature, Umbilical hernia, ...	ORPHA:404443
Cockayne Syndrome Type 2	Hepatomegaly, Cryptorchidism, Uveitis, Conjunctivitis, Male hypogonadism	ORPHA:90322
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hypospadias, Large for gestational age, Cryptorchidism, Intestinal polyp	ORPHA:457485
Microphthalmia, Syndromic 5	Cryptorchidism, Ectopic posterior pituitary, Cleft palate, Micropenis	OMIM:610125
Intellectual Developmental Disorder, Autosomal Recessive 65	Inguinal hernia, Hypospadias, Supernumerary nipple, Cryptorchidism, Contracture of the proximal i...	OMIM:618109
Buratti-Harel Syndrome	Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Recurrent pneumonia, Submucous cleft h...	OMIM:619314
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista...	ORPHA:227
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Recurrent pneumonia, Neutropenia	OMIM:620012
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ...	OMIM:617253
Myhre Syndrome	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi...	ORPHA:2588
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Cardiomegaly	OMIM:618652
Autosomal Dominant Spondylocostal Dysostosis	Abnormal morphology of female internal genitalia, Cleft palate	ORPHA:1797
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Inguinal hernia, Hydroureter, Absence of Stensen duct, Decreased response to growth hormone stimu...	OMIM:129900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria	ORPHA:2668
Galactosemia I	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala...	OMIM:230400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Premature thelarche, Myoglobinuria, Hypothyroidism, Premature pubarche	OMIM:616878
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukocytosis, Myocarditis...	ORPHA:292
Kbg Syndrome	Cryptorchidism, Cleft palate	ORPHA:2332
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Baraitser-Winter Syndrome 1	Cryptorchidism, Micropenis, Failure to thrive	OMIM:243310
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Cryptorchidism, Failure to thrive, Hypospadias	OMIM:613026
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch...	ORPHA:96182
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Increased body weight, Hepatoce...	ORPHA:79240
Penoscrotal Transposition	Abnormal external genitalia, Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He...	OMIM:612541
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Recurrent upper respiratory tract ...	ORPHA:263501
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, Patent ductus arteriosus, Hamartoma of tongue	ORPHA:1338
Radio-Tartaglia Syndrome	Precocious puberty	OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Camptodactyly	OMIM:301039
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Renal Hypoplasia, Bilateral	Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chronic kidney dis...	ORPHA:97362
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:2123
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congenital hypothyroidism, Microp...	ORPHA:2519
Aniridia-Absent Patella Syndrome	Cryptorchidism, Inguinal hernia	ORPHA:1069
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroi...	OMIM:101800
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Bifid scrotum	ORPHA:1547
Suleiman-El-Hattab Syndrome	Cryptorchidism, Failure to thrive, High palate, Hydronephrosis	OMIM:618950
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal hypoplasia, Cleft palate, A...	OMIM:618494
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Vesicoureteral reflux, Cryptorchidism, Renal atrophy, Hypospadias	OMIM:618659
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Wagro Syndrome	Decreased testicular size, Proteinuria, Hypoplastic female external genitalia, Obesity	OMIM:612469
Distal Triplication 15Q	Abnormal external genitalia, Large for gestational age, Birth length greater than 97th percentile...	ORPHA:314588
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Squalene Synthase Deficiency	Bilateral cryptorchidism, Hypospadias, Failure to thrive in infancy	OMIM:618156
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ...	ORPHA:249
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Hydronephrosis	ORPHA:531151
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, High palate, Micropenis	OMIM:618929
Chromosome 2P16.1-P15 Deletion Syndrome	Cryptorchidism, High, narrow palate, Hydronephrosis, Hypogonadism, High palate, Micropenis, Decre...	OMIM:612513
Emanuel Syndrome	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Cleft palate, Ectopic anus, Hypogona...	ORPHA:96170
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Smith-Kingsmore Syndrome	Cryptorchidism, Umbilical hernia, Large for gestational age	OMIM:616638
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Narrow palate, Anal atresia	ORPHA:2063
Laron Syndrome	Hypoplasia of penis, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed ...	ORPHA:633
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Hereditary Mucoepithelial Dysplasia	Hematuria, Abnormal morphology of female internal genitalia, Tracheoesophageal fistula, Furrowed ...	ORPHA:1839
Emanuel Syndrome	Recurrent urinary tract infections, Intestinal malrotation, Unilateral renal agenesis, Cryptorchi...	OMIM:609029
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Pseudotrisomy 13 Syndrome	Omphalocele, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis,...	OMIM:264480
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Umbilical hernia, Fail...	OMIM:612938
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Vaginal neoplasm, Pelvic mass, Weight loss, Neoplasm of the liver...	ORPHA:2126
Alg9-Cdg	Hepatomegaly, Villous atrophy, Hypoplasia of the bladder, Hepatic cysts, Ureteral hypoplasia, Hyd...	ORPHA:79328
Seckel Syndrome 1	Hypospadias, Cryptorchidism, Elbow flexion contracture, Cleft palate, High palate, Enamel hypopla...	OMIM:210600
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Hypospadias, Hypothyroidism, Cleft palate	OMIM:603736
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate...	ORPHA:2879
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona...	OMIM:600901
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus	ORPHA:225
Kallmann Syndrome-Heart Disease Syndrome	Hypogonadotropic hypogonadism, Renal agenesis, Bilateral cryptorchidism, Midgut malrotation, Clef...	ORPHA:2326
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
X-Linked Intellectual Disability, Cantagrel Type	Shawl scrotum	ORPHA:85277
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, High palate	ORPHA:139471
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the ureter, Cleft palate, Polycystic ovaries, Gonadal dysgenesis, Umbilical hernia	ORPHA:1770
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly...	OMIM:235255
Cri-Du-Chat Syndrome	Small for gestational age, Hypospadias, Abnormality of the kidney, Cryptorchidism, High palate, B...	OMIM:123450
Ruvalcaba Syndrome	Hematuria, Cryptorchidism, Inguinal hernia, Delayed puberty	ORPHA:3121
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Leukemia, Vesicoureteral reflux,...	OMIM:619951
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis	ORPHA:73246
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal...	ORPHA:485405
Bachmann-Bupp Syndrome	Cryptorchidism, High palate, Large for gestational age	OMIM:619075
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft palate, Enlarged kidney, Polycystic kidney dys...	OMIM:613091
Meacham Syndrome	Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism, Patent ductus art...	OMIM:608978
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th...	OMIM:616113
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Pde4D Haploinsufficiency Syndrome	Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Elevated circulating par...	ORPHA:439822
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Gastro...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Gastro...	ORPHA:99228
Monosomy X	Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Gastro...	ORPHA:99226
Turner Syndrome	Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Gastro...	ORPHA:881
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Hydrometrocolpos, Aplasia of the epiglottis, Horseshoe kidney, Vaginal ...	OMIM:617088
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Failure to thrive, Femoral hernia, Inguinal hernia, Renal insufficiency, Pro...	ORPHA:96147
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Nephroblasto...	OMIM:257300
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Furrowed tongue, High palate, Decreased body weight, Cholelithiasis, Micropenis, ...	OMIM:300534
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of t...	OMIM:271520
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infect...	OMIM:618042
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Cryptorchidism, Flexion contracture, High palate, Decreased body weight, Failure to thrive	OMIM:617452
Autosomal Recessive Omodysplasia	Cryptorchidism, Hernia	ORPHA:93329
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cryptorchidism, Clef...	ORPHA:994
Kleefstra Syndrome 1	Hypospadias, Protruding tongue, Cryptorchidism, Abnormal renal morphology, Obesity, Macroglossia,...	OMIM:610253
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Arthrogryposis, Distal, Type 3	Camptodactyly of finger, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Knee flexion ...	OMIM:114300
Trisomy 18P	Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis	ORPHA:1715
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Cleft pal...	ORPHA:99776
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Malabsorption, Abnormal v...	ORPHA:2315
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Flexion contracture	OMIM:608093
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsiv...	ORPHA:2575
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Cryptorchidism	OMIM:616789
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Cryptorchidism, Abnormality of the pancreas, Narrow palate, Cleft palate, Anterior...	ORPHA:1555
Filippi Syndrome	Cryptorchidism, Supernumerary nipple	ORPHA:3255
Noonan Syndrome 6	Cryptorchidism, Juvenile myelomonocytic leukemia	OMIM:613224
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrota...	ORPHA:2059
Trisomy 8Q	Hypoplasia of penis, Cryptorchidism, Cleft palate, High palate, Displacement of the urethral meat...	ORPHA:1752
C Syndrome	Omphalocele, Cryptorchidism, Patent ductus arteriosus, Renal cortical cysts, High palate, Failure...	OMIM:211750
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Mi...	ORPHA:1307
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Cryptorchidism, Congenital hypop...	ORPHA:2323
Cog5-Cdg	Hepatomegaly, Neurogenic bladder, Urinary incontinence, Cryptorchidism, Hepatosplenomegaly, High ...	ORPHA:263487
Marden-Walker Syndrome	Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palat...	OMIM:248700
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidrosis, Ambiguous genita...	OMIM:610644
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
Fg Syndrome Type 1	Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s...	ORPHA:93932
Noonan Syndrome 9	Cryptorchidism, Hydroureter	OMIM:616559
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis	OMIM:619718
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Inguinal hernia, Hypospadias, Cryptorchidism, Umbilical hernia	OMIM:601499
Chromosome 1P35 Deletion Syndrome	Cryptorchidism, High palate, Congenital hypothyroidism	OMIM:617930
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Mediastinal lymphadenopathy, Bro...	ORPHA:169105
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula	ORPHA:77298
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Micropenis, Increased body weight, Horseshoe kidney	OMIM:300860
Diastrophic Dysplasia	Cryptorchidism, Camptodactyly of finger, Cleft palate	ORPHA:628
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Small for gestational age, Hypospadias, Cryptorchidis...	OMIM:301056
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Noonan Syndrome 5	Cryptorchidism, Large for gestational age	OMIM:611553
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty	ORPHA:163681
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis	OMIM:312830
Orofacial Cleft 15	Cryptorchidism, Bilateral cleft palate	OMIM:616788
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia, Failure to thrive	ORPHA:329224
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cr...	ORPHA:1812
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Cryptorchidism, Hypospadias	ORPHA:494344
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Recurrent otitis media, Cryptorchidism, Severe failure to thrive, High palate	ORPHA:3304
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic micr...	ORPHA:66634
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Hypopituit...	ORPHA:1827
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, T...	OMIM:616541
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Cryptorchidism, Labial hypertrophy, Neonatal insulin-dependent diabetes mellitus	ORPHA:96191
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias	OMIM:618874
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Decreased circulating progesterone, Primary amenorrhea, Secondar...	OMIM:603896
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Inguinal hernia, External genital hypoplasia, Cryptorchidism, Submucous clef...	ORPHA:2250
Fraser-Like Syndrome	Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Meier-Gorlin Syndrome 6	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	OMIM:616835
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Cryptorchidism, High palate, Hypospadias, Decreased body weight	OMIM:300260
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Abnormality...	ORPHA:847
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Submucous cleft hard palate, Hor...	OMIM:619103
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions...	OMIM:616395
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Renal duplication, Cryptorchidism, High, narrow palate, Pylori...	ORPHA:96169
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Malformation of ...	OMIM:208540
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea...	OMIM:203800
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Cryptorchidism, Failure to thrive, High palate, Decreased body weight	ORPHA:505237
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Ha...	OMIM:175200
Pontocerebellar Hypoplasia, Type 7	Ambiguous genitalia, Cryptorchidism, Micropenis, High palate	OMIM:614969
Bainbridge-Ropers Syndrome	Precocious puberty, Cryptorchidism, Supernumerary nipple	OMIM:615485
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Currarino Syndrome	Anal stenosis, Neurogenic bladder, Urinary incontinence, Septate vagina, Perianal abscess, Horses...	OMIM:176450
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal transposition,...	OMIM:619148
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Cryptorchidism, Mesenteric cyst, Hypospadias, Intestinal malrotation	OMIM:618316
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy, Pod...	OMIM:300322
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, ...	OMIM:603457
Macs Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Urethral stenosis, Bronchiectasis, High palate, R...	OMIM:613075
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	OMIM:170100
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Thrombocytopenia, Dysphagia	OMIM:615750
Opitz Gbbb Syndrome	Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Congenital diaphragma...	ORPHA:2745
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Dysphagia	OMIM:619751
Ritscher-Schinzel Syndrome 4	Cryptorchidism, Micropenis, High palate, Narrow palate	OMIM:619435
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Renal hypoplasia/ap...	ORPHA:2166
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol...	ORPHA:85445
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia	ORPHA:89844
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Meier-Gorlin Syndrome 5	Cryptorchidism, Micropenis, Submucous cleft hard palate, Failure to thrive	OMIM:613805
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegal...	OMIM:614576
Adams-Oliver Syndrome 1	Cleft palate, Imperforate hymen, Supernumerary nipple	OMIM:100300
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis	OMIM:619471
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona...	OMIM:227645
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal...	OMIM:613743
Microphthalmia, Syndromic 2	Contracture of the proximal interphalangeal joint of the 2nd toe, Hypospadias, Septate vagina, Cr...	OMIM:300166
Limb-Mammary Syndrome	Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Cleft hard palate, Pri...	ORPHA:69085
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias	OMIM:615877
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, Dilated third ventricle, High palate	OMIM:619244
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg...	OMIM:618347
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Macroglossia, Cryptorchidism, High palate, Overfriendliness	ORPHA:369891
Crane-Heise Syndrome	Cryptorchidism, Hypoplasia of penis, Cleft palate	ORPHA:1512
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Hypospadias, Type II diabetes mellitus	OMIM:210720
Craniofrontonasal Dysplasia	High palate, Hypospadias, Shawl scrotum	ORPHA:1520
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ...	OMIM:602782
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp...	OMIM:191100
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormality of female external genitalia	ORPHA:2637
Cutis Laxa, Autosomal Recessive, Type Iiia	Cryptorchidism, Inguinal hernia, Failure to thrive, Umbilical hernia	OMIM:219150
Currarino Syndrome	Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m...	ORPHA:1552
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Submuc...	ORPHA:2282
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria	OMIM:619685
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidi...	OMIM:613457
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Cleft palate, Adrenal gland dysgenesis, Abnormal vag...	OMIM:236680
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility	OMIM:619518
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Hamartoma of tongue, Septate vagina, Esophageal diverticulum, Uterus didelphy...	OMIM:617925
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Cryptorchidism	ORPHA:163654
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Acute colitis, Abnormal per...	ORPHA:67
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational...	OMIM:227646
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Myositis, Pericarditis, Recurrent urinary tract infections, ...	ORPHA:3310
Fanconi Anemia, Complementation Group P	Pancytopenia, Cryptorchidism, Horseshoe kidney, Pelvic kidney, Anemia	OMIM:613951
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Patent ductus arteriosus, Limb joint contracture, Hydronephrosis	OMIM:620327
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic...	OMIM:619573
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, A...	ORPHA:3412
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneum...	ORPHA:781
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Cryptorchidism, Proteinuria	OMIM:616682
Meier-Gorlin Syndrome 4	Cryptorchidism, Failure to thrive, Breast hypoplasia	OMIM:613804
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
20Q11.2 Microduplication Syndrome	Bifid scrotum, Cryptorchidism, Micropenis	ORPHA:363659
Primary Ciliary Dyskinesia	Male infertility, Intestinal malrotation, Female infertility, Asplenia, Bronchiectasis, Chronic s...	ORPHA:244
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Bladder diverticulum, Diabetes mellitus, Increased circulating androgen con...	ORPHA:2976
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Perianal abscess, Iron deficiency anemia, In...	OMIM:301074
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Gastroesophag...	ORPHA:90045
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Protruding tongue...	OMIM:214100
Short Syndrome	Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin-resistant diabete...	OMIM:269880
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Bifid uvula	ORPHA:2736
Dowling-Degos Disease	Arthritis, Acne inversa, Scrotal hyperpigmentation, Penile freckling	ORPHA:79145
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Pallister-Killian Syndrome	Renal dysplasia, Anhidrosis, Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, S...	OMIM:601803
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Hypospadias	ORPHA:1786
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Poems Syndrome	Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Primary adrenal insufficien...	ORPHA:2905
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadeno...	ORPHA:540
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, ...	ORPHA:251071
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Distal Duplication 5Q	Cryptorchidism, Eczema, Hypospadias, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Micropenis, Hydronephrosis, Duodenal atresia	OMIM:617798
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal thalamus morphology, Bifid uvula	ORPHA:404440
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Pagod Syndrome	Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Agonadism, Abnormalit...	ORPHA:991
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Thrombocytopenia-Absent Radius Syndrome	Cleft palate, Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto...	ORPHA:289
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Pulmona...	OMIM:603585
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul...	OMIM:193700
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis...	OMIM:210900
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Overgrowth	OMIM:224410
Peters Plus Syndrome	Intestinal fistula, Inguinal hernia, Ureteral duplication, Hypospadias, Multicystic kidney dyspla...	ORPHA:709
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Micropenis	OMIM:600460
Noonan Syndrome 4	Ureteral duplication, Large for gestational age, Cryptorchidism, Hydronephrosis, Thrombocytopenia	OMIM:610733
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Alagille Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Cholestasis, R...	ORPHA:52
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, High palate, Hypospadias, Shawl scrotum	OMIM:239710
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop...	OMIM:602450
8Q21.11 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis, High palate, Eczema	ORPHA:284160
Acquired Generalized Lipodystrophy	Acute pancreatitis, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generaliz...	ORPHA:79086
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Cryptorchidism, Intestinal malrotation, Cleft palate	ORPHA:457193
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Acrocardiofacial Syndrome	Hypoplasia of penis, Hyperthyroidism, Hypospadias, Camptodactyly of finger, Cryptorchidism, Cleft...	ORPHA:2008
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Crypto...	OMIM:611209
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Eczema, Recurrent pneumonia, Hydronephrosis, High palate, Bifid uvula	OMIM:620330
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Pylo...	ORPHA:261494
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus	ORPHA:1521
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Bilateral cryptorchidi...	OMIM:242900
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Jaundice, Leukocytosis, Leukopenia...	ORPHA:91547
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Cryptorchidism, Patent ductus...	OMIM:300963
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Abnormality of the ...	ORPHA:84
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate	ORPHA:66629
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital ...	ORPHA:369837
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolo...	OMIM:229850
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Protruding tongue, Cryptorchidism, Reduced alpha/beta synthesis rati...	OMIM:301040
Postaxial Acrofacial Dysostosis	Abnormality of the kidney, Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrota...	OMIM:263750
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Diabetes mellitus, Abnormality of ne...	ORPHA:1775
Opitz Gbbb Syndrome	Inguinal hernia, Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, C...	OMIM:300000
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Johanson-Blizzard Syndrome	Colonic diverticula, Diabetes mellitus, Hypospadias, Small for gestational age, Urethrovaginal fi...	OMIM:243800
Martsolf Syndrome 1	Cryptorchidism, Micropenis, High palate, Hypogonadotropic hypogonadism	OMIM:212720
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism	OMIM:300578
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Small for gestational age, Mult...	OMIM:107480
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Pyloric stenosis	ORPHA:664
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F...	ORPHA:160
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo...	ORPHA:456312
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Abnormality of the ureter, Tracheoesophageal fistul...	ORPHA:1834
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Cryptorchidism, Joint contracture, High palate	OMIM:602471
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula	OMIM:619859
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Inguinal hernia, Cryptorchidism, Atypical scarring of skin, Atrophic scars, High ...	OMIM:618000
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
Rubinstein-Taybi Syndrome	Failure to thrive in infancy, Cryptorchidism, Atypical scarring of skin, High palate, Keloids	ORPHA:783
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Cryptorchidism, Bifid uvula, Hypoplastic nipples	OMIM:618505
Ogden Syndrome	Cryptorchidism, Inguinal hernia, High, narrow palate	ORPHA:276432
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias...	OMIM:300998
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggrega...	OMIM:608233
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Anteriorly placed anus, High palate...	OMIM:615546
Sotos Syndrome	Cryptorchidism, High, narrow palate, Patent ductus arteriosus, Increased body weight, Narrow pala...	OMIM:117550
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Small for gestational age, Hypospadias, Cryptorchidism, Urolithiasis, Gout, ...	OMIM:300661
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Uveitis, Hypohidrosis, Conjunctiv...	ORPHA:90321
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Trisomy 18	Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism, ...	ORPHA:3380
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, ...	ORPHA:3455
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Dysphagia, ...	ORPHA:2070
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness	Shawl scrotum	OMIM:614187
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit...	OMIM:224230
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis	ORPHA:568
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Hypospadias, Small for gestational age, Supernumerary nipple, Glandular hypospadias, Narrow palat...	OMIM:604314
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,...	OMIM:613990
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Increa...	OMIM:612562
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus...	ORPHA:182050
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydronephrosis, S...	OMIM:613001
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopenia, Absence of ...	OMIM:187900
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ...	OMIM:617063
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, High palate, Failure to thrive, Anal atresia	OMIM:617602
Meckel Syndrome 14	Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus	OMIM:619879
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytopenia, Recurrent broncho...	OMIM:617303
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Epispadias, Hypoplasti...	ORPHA:2554
Brucellosis	Liver abscess, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liver, Infectio...	ORPHA:1304
Perlman Syndrome	Distal ileal atresia, Nephrogenic rest, Renal hamartoma, Nephroblastoma, Large for gestational ag...	OMIM:267000
Diffuse Alveolar Hemorrhage	Leukocytosis, Anemia, Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Thromboc...	ORPHA:90060
Costello Syndrome	Failure to thrive in infancy, Abnormal dental enamel morphology, Cryptorchidism, Narrow palate, M...	ORPHA:3071
X-Linked Mandibulofacial Dysostosis	Cryptorchidism, High palate	ORPHA:1131
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, High palate, Decreased body wei...	OMIM:619005
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Failure to t...	OMIM:614052
Chromosome 18Q Deletion Syndrome	Inguinal hernia, Hypospadias, Decreased response to growth hormone stimulation test, Failure to t...	OMIM:601808
Lowry-Maclean Syndrome	Hypospadias, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Midgut malrotation,...	ORPHA:2409
Shigellosis	Acute colitis, Abscess, Pneumonia, Intestinal perforation, Myocarditis, Leukocytosis, Peritonitis...	ORPHA:810
Autoimmune Lymphoproliferative Syndrome	Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative...	ORPHA:3261
Propionic Acidemia	Hepatomegaly, Pancytopenia, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Anteriorly placed anus, Hernia	OMIM:217980
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus, Cleft palate	OMIM:619123
Walker-Warburg Syndrome	Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:899
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increased serum testosterone l...	OMIM:264090
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, High palate, Decreased liver...	OMIM:251290
Mosaic Trisomy 8	Camptodactyly of finger, Cryptorchidism, Cleft palate, Hydronephrosis, High palate, Vesicouretera...	ORPHA:96061
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Micropenis, High palate, Cleft palate	OMIM:614230
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Tracheoesophageal fistula, Anemia...	OMIM:277380
Oculocerebrocutaneous Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:1647
Boutonneuse Fever	Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocyto...	ORPHA:83313
Autosomal Recessive Spastic Paraplegia Type 77	Bilateral cryptorchidism, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence	ORPHA:466722
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Ritscher-Schinzel Syndrome 3	Cryptorchidism	OMIM:619135
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Congenital foot contractures	ORPHA:565624
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Immunodeficiency 96	Recurrent lower respiratory tract infections, Increased proportion of gamma-delta T cells, Increa...	OMIM:619774
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Chronic pancrea...	OMIM:307030
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Acute Promyelocytic Leukemia	Pancytopenia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leuko...	ORPHA:520
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, H...	OMIM:617718
Noonan Syndrome 13	Recurrent otitis media, Cryptorchidism, Duplicated collecting system, High palate	OMIM:619087
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Myocardial nec...	OMIM:260400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Aganglionic megacolon, Failure to thrive in infancy, Myeloid leukemia,...	ORPHA:798
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu...	ORPHA:2169
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Recurren...	ORPHA:77261
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Psoriasiform dermatitis, Decreased serum insulin-like growt...	ORPHA:293978
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymp...	ORPHA:39041
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Ogden Syndrome	Global glomerulosclerosis, Eczema, Maternal diabetes, Cardiomegaly, Cryptorchidism, Jaundice, Mic...	OMIM:300855
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J...	OMIM:214500
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst...	ORPHA:201
Donnai-Barrow Syndrome	Bicornuate uterus, Proteinuria, Abnormality of the uterus	ORPHA:2143
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp...	OMIM:614083
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Malabs...	ORPHA:379
Gm1 Gangliosidosis	Splenomegaly, Weight loss, Hepatosplenomegaly, Macroglossia, Abnormality of the scrotum, Aspirati...	ORPHA:354
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Abnorm...	ORPHA:857
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidism, Cleft palate, High palate	OMIM:612530
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag...	OMIM:249100
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Aganglionic megacolon, Hamartoma of tongue, Cleft palate, Horseshoe ki...	OMIM:174300
Alexander Disease	Precocious puberty, Diabetes mellitus, Hypothyroidism	ORPHA:58
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon...	ORPHA:177907
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Subcutaneous lipoma...	ORPHA:2969
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Small for gestational age, Cryptorchi...	OMIM:614866
Floating-Harbor Syndrome	Inguinal hernia, Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Nephrocalcin...	OMIM:136140
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hypertro...	OMIM:611126
Braddock-Carey Syndrome 2	Cleft palate, Thrombocytopenia	OMIM:619981
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane...	ORPHA:1667
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Thrombocytopenia, Leukopenia	ORPHA:99828
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Skin rash, Proteinuria, Malabsorption, Orchitis, Splenomega...	ORPHA:342
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Esopha...	OMIM:206900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia	ORPHA:3002
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Abnormal morphology of ...	ORPHA:1790
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Recurrent respiratory i...	OMIM:618278
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Cleft soft palate, Pure red cell aplasia, Eryt...	ORPHA:124
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci...	OMIM:300942
Penile Agenesis	Urethral atresia, male, Hydroureter, Maternal diabetes, Rectal fistula, Cryptorchidism, Fetal pye...	ORPHA:49
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Meier-Gorlin Syndrome 1	Small for gestational age, Cryptorchidism, Hypoplastic labia minora, Cleft palate, Hypoplastic la...	OMIM:224690
Craniofrontonasal Syndrome	Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Unilateral breast hypoplasia, Breast hy...	OMIM:304110
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent ...	OMIM:230900
Overlap Myositis	Elevated hepatic transaminase, Abnormal pulmonary interstitial morphology, Abnormal heart morphol...	ORPHA:206572
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Thrombocytopen...	OMIM:603553
Microphthalmia With Limb Anomalies	High palate, Failure to thrive, Unilateral cryptorchidism, Cleft palate	OMIM:206920
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism, Aganglionic megacolon	OMIM:613266
Floating-Harbor Syndrome	Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Celiac disease, Stage...	ORPHA:2044
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Ellis-Van Creveld Syndrome	Epispadias, Hypospadias, Cryptorchidism	OMIM:225500
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, High palate, Otitis media, Vesicoureteral reflux...	OMIM:122470
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Obesity, Anteriorly placed anus, High palate, Vesicouretera...	OMIM:618653
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Cryptorchidism, Cleft palate, Camptodactyly, Umbilical hernia, Micropenis	OMIM:616331
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Chops Syndrome	Splenomegaly, Cryptorchidism, High, narrow palate, Obesity, Horseshoe kidney, Aspiration pneumoni...	OMIM:616368
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Waardenburg Syndrome, Type 1	Aplasia of the vagina	OMIM:193500
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Recurrent resp...	ORPHA:537
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, M...	ORPHA:2241
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Cryptorchidism, Chordee, Supernumerary nipple	OMIM:616728
Immunodeficiency 22	Pericarditis, Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased proportion...	OMIM:615758
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lympho...	ORPHA:319218
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Villous atrophy, Autoimmune thrombocytopenia, Esophageal carcinoma, ...	ORPHA:391487
Acrofrontofacionasal Dysostosis	Bifid scrotum, High palate, Hypospadias, Cleft palate	ORPHA:1784
Distal Duplication 17Q	Accessory spleen, Cryptorchidism, Cleft palate, High palate, Vesicoureteral reflux, Renal duplica...	ORPHA:3379
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Multiple gastric polyps, Cardiomyopath...	OMIM:225750
Noonan Syndrome With Multiple Lentigines	Cryptorchidism, Hypospadias, Decreased fertility, Abnormal localization of kidney	ORPHA:500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Cryptorchidism, Micropenis, High palate	OMIM:620224
Coenzyme Q10 Deficiency, Primary, 1	Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Proteinuria, Nephrotic syndrome, Focal s...	OMIM:607426
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Generaliz...	ORPHA:50918
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Eczema, Small for gestational age, Unilateral renal a...	ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Po...	ORPHA:464311
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Cryptorchidism, Horseshoe kidney, High palate, Congenital posterior urethral valve, ...	OMIM:620083
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Peritonitis, Schistocytosis...	ORPHA:90038
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, Pu...	ORPHA:2847
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi...	OMIM:617052
Nablus Mask-Like Facial Syndrome	Cryptorchidism, High palate, Hypoplastic nipples, Labial hypoplasia, Camptodactyly, Micropenis, J...	OMIM:608156
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Tay-Sachs Disease	Precocious puberty	ORPHA:845
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, Labial hypoplasia, Annular pa...	OMIM:147791
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Wiedemann-Steiner Syndrome	Recurrent otitis media, Cryptorchidism, Failure to thrive, High palate	OMIM:605130
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno...	ORPHA:97280
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cryptorchidism, Failure to thrive, Small for gestational age, Unilateral renal agenesis	OMIM:620024
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cryptorchidism, Pyloric stenosis, Flexion contracture, Elbow flexion contracture	OMIM:614438
Monosomy 18Q	Bilateral cryptorchidism, Hypothyroidism, Patent ductus arteriosus, High palate, Micropenis, Fail...	ORPHA:1600
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati...	OMIM:610377
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	External genital hypoplasia, Cryptorchidism, Cleft palate, High palate, Micropenis, Decreased tes...	ORPHA:251028
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphragmatic hernia, Large ...	OMIM:614080
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Protein...	OMIM:618183
3Mc Syndrome 2	Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate	OMIM:265050
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Per...	ORPHA:32960
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet...	ORPHA:96149
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, High palate, Recurrent aspiration pneumonia, Bifid...	OMIM:300472
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Angelman Syndrome	Delayed menarche, Precocious puberty in females	ORPHA:72
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Inguinal hernia, Large for gestational age, Bilateral cryptorchidism, Celiac disease, Dilated thi...	ORPHA:544488
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Recurrent upper respiratory tract infections, Ret...	ORPHA:508542
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her...	ORPHA:2658
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Ectopic kidney, Cryptorchidism, Rectal pr...	OMIM:235510
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Thrombocy...	OMIM:619980
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Increased mean corpuscular volume, High palate, Chronic otitis media, Thrombocyto...	ORPHA:261250
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa...	ORPHA:79644
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:268261
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Gastrointestinal dysmotilit...	ORPHA:90051
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism...	OMIM:261540
Faciodigitogenital Syndrome, Autosomal Recessive	Cryptorchidism, Narrow palate, Pollakisuria, High palate, Shawl scrotum	OMIM:227330
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism, Macroglossia, Inappropriate laughter	OMIM:618143
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Pulmonary hypopla...	OMIM:608013
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Hypospadias, Small fo...	ORPHA:1596
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Hepatoblastoma, Exaggerated median tongue furrow, Hepatomegaly, Hypospadias, Cryptorc...	OMIM:312870
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Aplastic anemia, Esophageal atresia, Abnormal lung lobation, Tracheoes...	OMIM:300514
Pitt-Hopkins Syndrome	Cryptorchidism, Micropenis, Supernumerary nipple	OMIM:610954
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Cryptorchidism, Velopharyngeal insufficiency, Submucous clef...	OMIM:192430
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Dilated cardiomyop...	ORPHA:3260
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363958
Sengers Syndrome	Hypertrophic cardiomyopathy, Thrombocytopenia	OMIM:212350
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo...	ORPHA:97278
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Intesti...	OMIM:249000
Dubowitz Syndrome	Hypoparathyroidism, Anal stenosis, Hypospadias, Eczema, Abnormality of neutrophils, Malabsorption...	ORPHA:235
Autoinflammatory-Pancytopenia Syndrome	Type I diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:619858
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Cryptorchidism, Hydroneph...	OMIM:616737
Pudendal Neuralgia	Dyspareunia, Anal canal adenocarcinoma, Dysuria, Pollakisuria, Impotence, Scrotal pain	ORPHA:60039
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Myocarditis, Hepatitis, Lymph...	ORPHA:139402
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber...	ORPHA:649
Ciliary Dyskinesia, Primary, 9	Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren...	OMIM:612444
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Hypospadias, Intestinal malrotation, Cryptorchidism...	ORPHA:79324
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Delayed puberty	ORPHA:369
Lateral Meningocele Syndrome	Inguinal hernia, Cryptorchidism, High, narrow palate, High palate, Umbilical hernia	ORPHA:2789
Cystinosis	Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Amin...	ORPHA:213
17Q23.1Q23.2 Microdeletion Syndrome	Chronic otitis media, Failure to thrive, Blepharitis, Shawl scrotum	ORPHA:261279
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Noonan Syndrome 14	Cryptorchidism, Lymphopenia, High, narrow palate, Hyperhidrosis	OMIM:619745
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Anteriorly placed anus, Clit...	OMIM:616894
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Cleft palate, Pelvic kidney, Failure to thrive, Recurrent aspiration pneumonia, D...	OMIM:247200
Cohen Syndrome	Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow pala...	ORPHA:193
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Secundum atrial septal defect, Pleural effusion, Thr...	OMIM:617397
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Keratitis, Conjunctivitis, Gonadal hypoplasia	OMIM:278800
Orofaciodigital Syndrome Type 6	Failure to thrive, Renal agenesis, Hamartoma of tongue, Renal hypoplasia/aplasia, Bilateral crypt...	ORPHA:2754
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, High palate, Vesicoureteral reflux, Fa...	ORPHA:250989
Zimmermann-Laband Syndrome	Hepatomegaly, Abnormal external genitalia, Splenomegaly, Cleft palate, Macroglossia, High palate,...	ORPHA:3473
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Steato...	OMIM:616263
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contra...	OMIM:151050
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Hartsfield Syndrome	Hypospadias, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Micropenis, Diabetes insipidus	OMIM:615465
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Pontocerebellar Hypoplasia, Type 10	Cryptorchidism, High palate	OMIM:615803
7Q11.23 Microduplication Syndrome	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Unilateral renal agenesis, Cryptor...	ORPHA:96121
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Drug-Induced Lupus Erythematosus	Pericardial effusion, Thrombocytopenia, Pericarditis, Anemia	ORPHA:231111
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Small for gestational age, Aplastic anemia, Cryptorchidism, Hypo...	ORPHA:221008
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Cle...	OMIM:616300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Flexion contracture, Cleft palate	ORPHA:1865
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Pericardial effusion, Lymphadenopathy, Leukopenia, Mic...	ORPHA:93552
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Cryptorchidism, Abnormal mesentery morphology, Malrotation of small bo...	ORPHA:2953
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Tr...	ORPHA:138
Renal Agenesis, Bilateral	Abnormal morphology of female internal genitalia, Abnormal intestine morphology, Tracheoesophagea...	ORPHA:1848
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Intestinal perforation, Hematemesis, Ab...	ORPHA:464321
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Cryptorchidism, Cleft palate, Lipoma, Hypopituitarism	OMIM:603671
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Small for gestational age, Eczema, Cryptorchidism, Pyloric st...	OMIM:610443
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Recurrent resp...	ORPHA:36426
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Cryptorchidism, Cleft palate, Polysplenia, Dilatation of renal calices	OMIM:614294
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ...	OMIM:219800
Lateral Meningocele Syndrome	Inguinal hernia, Neurogenic bladder, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Kelo...	OMIM:130720
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cryptorchidism, Abnormality of the urinary system, Ureteral stenosis, Anemia	ORPHA:2719
Larsen Syndrome	Cryptorchidism, Cleft palate	ORPHA:503
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Gastroesophageal reflux, Thrombocytopenia	OMIM:616577
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Thrombocytopenia	ORPHA:391673
Early Infantile Epileptic Encephalopathy	Precocious puberty, Micropenis, Renal dysplasia, Ureterocele	ORPHA:1934
Cockayne Syndrome A	Anhidrosis, Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Irregul...	OMIM:216400
Specc1L-Related Hypertelorism Syndrome	Cryptorchidism, Ectopic kidney, Female pseudohermaphroditism, Shawl scrotum	ORPHA:1519
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Hyperthyroidism, Eczema, Decreased response to growth hormone stimulation tes...	ORPHA:488632
Laurin-Sandrow Syndrome	Cryptorchidism	ORPHA:2378
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Cryptorchidism, Abnormal T cell morphology, Panniculitis, Hypogonadism,...	ORPHA:3132
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Esophagitis, Micropen...	ORPHA:2896
Codas Syndrome	Omphalocele, Cryptorchidism, Rectovaginal fistula, Enamel hypoplasia, Anal atresia	OMIM:600373
Gabriele-De Vries Syndrome	Cryptorchidism, Ureteropelvic junction obstruction, High palate, Hydronephrosis	OMIM:617557
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Pneumothorax, Hepatitis, Leukopenia, Pleural effusion, ...	ORPHA:454836
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Mend Syndrome	Failure to thrive, Cryptorchidism, Cleft palate, High palate, Abnormal social behavior	ORPHA:401973
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,...	ORPHA:97279
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated c...	OMIM:615895
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ...	OMIM:617941
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Roberts Syndrome	Progressive flexion contractures, Cryptorchidism, Long penis, Cleft palate, Knee flexion contract...	ORPHA:3103
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:29072
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic...	OMIM:609981
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Bronchiectasis, Cholestasis...	OMIM:620233
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi...	OMIM:619609
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Distal Deletion 3P	Inguinal hernia, Cryptorchidism, Cleft palate, High palate, Umbilical hernia	ORPHA:1620
Multiple Pterygium Syndrome, Escobar Variant	Inguinal hernia, Multiple joint contractures, Hypospadias, Congenital diaphragmatic hernia, Crypt...	OMIM:265000
16P13.11 Microdeletion Syndrome	Cryptorchidism, Camptodactyly of finger, Cleft palate	ORPHA:261236
Ivic Syndrome	Anal atresia, Leukocytosis, Rectovaginal fistula, Thrombocytopenia	ORPHA:2307
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Oral leukoplakia, Thrombocyto...	ORPHA:3322
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis	OMIM:301066
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Precocious puberty, Cryptorchidism, Abnormality of the en...	ORPHA:636
Noonan Syndrome	Hepatomegaly, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the spleen, Abnormali...	ORPHA:648
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Hydronephrosis	OMIM:300712
Barber-Say Syndrome	Absent nipple, Lipodystrophy, Cryptorchidism, Hypoplastic labia minora, Velopharyngeal insufficie...	OMIM:209885
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple	ORPHA:477993
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Cryptorchidism, Cleft palate, Furrowed tongue, Hydronephrosis, Macro...	ORPHA:453499
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Decreased circulating cortisol level, Int...	OMIM:620305
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Native American Myopathy	Cryptorchidism, Cleft palate, Congenital contracture, High palate, Camptodactyly, Submucous cleft...	ORPHA:168572
Cerebellofaciodental Syndrome	Cryptorchidism	OMIM:616202
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism, Unilateral renal hypoplasia	OMIM:619950
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Mal...	OMIM:194190
Loeys-Dietz Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Atypical scarring of skin, High palate, Uterin...	ORPHA:60030
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Bartsocas-Papas Syndrome 1	Omphalocele, Anal stenosis, Inguinal hernia, Absent external genitalia, Bilateral cryptorchidism,...	OMIM:263650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Large for gestational age	OMIM:618272
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Glomerulopathy, Renal insufficienc...	ORPHA:117
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Intestinal lymphangiectasia, Ascites, Hypothyroidism	OMIM:616843
Ciliary Dyskinesia, Primary, 45	Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Trichodermodysplasia-Dental Alterations Syndrome	Abnormal morphology of female internal genitalia, Adenoma sebaceum	ORPHA:3353
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Carey-Fineman-Ziter Syndrome 1	Cryptorchidism, Flexion contracture, Cleft palate, Glossoptosis, High palate, Microglossia, Failu...	OMIM:254940
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Diabetes mellitus, Long uvula, Widened atrophic scar, Cryptorchi...	ORPHA:536532
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Thrombocytopenia, Cleft palate, Micropenis, Hydr...	ORPHA:163979
Neurofaciodigitorenal Syndrome	Cryptorchidism, Unilateral renal agenesis	ORPHA:2673
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Xeroderma Pigmentosum	Keratitis, Cryptorchidism, Aminoaciduria, Hypogonadism, Failure to thrive, Blepharitis, Decreased...	ORPHA:910
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:276621
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79443
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Cryptorchidism, High, narrow palate, Cleft palate, Bifid uvula, Tall stature	OMIM:309583
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Abnormal leukocyte morphology, Pancytopenia, Recurrent respiratory...	ORPHA:167
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Inguinal hernia, Bilateral cryptorchidism, Hydrometrocolpos, Hypohidrosis, Hyp...	OMIM:150230
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Cloacal Exstrophy	Omphalocele, Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Horseshoe ...	ORPHA:93929
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria	ORPHA:2239
Rothmund-Thomson Syndrome, Type 2	Small for gestational age, Cryptorchidism, Anteriorly placed anus, High palate, Hypogonadism, Ann...	OMIM:268400
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Failure to thrive, Hypospadias, Abnormal dental enamel morphology, Con...	ORPHA:2556
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Eczema, Unilateral renal agenesis, Cryptorchidism, Microphallus, Severe failure to t...	ORPHA:468631
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate	ORPHA:2631
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Atrial septal defe...	ORPHA:79330
Diets-Jongmans Syndrome	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia, ...	OMIM:618846
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia, Intestinal malrotation	ORPHA:3035
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypohidrosis, Hypogonadism, Microcolon	ORPHA:163746
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Opitz-Kaveggia Syndrome	Anal stenosis, Multiple joint contractures, Hypospadias, Intestinal malrotation, Inguinal hernia,...	OMIM:305450
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Hyperinsulinemia, Renal Fanconi syndrome, Pancreatic islet-cell hyperplasia, Glycosu...	ORPHA:263455
Sweeney-Cox Syndrome	Bilateral cryptorchidism, Asplenia, Velopharyngeal insufficiency, High palate, Median cleft palat...	OMIM:617746
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Obesity...	ORPHA:251004
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:613404
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia, Goiter	ORPHA:83601
Hamamy Syndrome	Hypoparathyroidism, Inguinal hernia, Cryptorchidism, High palate, Enamel hypoplasia	OMIM:611174
Weaver Syndrome	Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Overgrowth, Camptoda...	OMIM:277590
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Horseshoe kidney, ...	ORPHA:2886
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Baller-Gerold Syndrome	Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High palate, Bifid ...	OMIM:218600
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disease, Renal hypo...	OMIM:614376
Intellectual Developmental Disorder, Autosomal Dominant 29	Cryptorchidism, Obesity, Narrow palate, High palate, Ankyloglossia	OMIM:616078
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Aicardi Syndrome	Precocious puberty, Delayed puberty	ORPHA:50
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture...	OMIM:305000
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Yellow subcutaneous tissue covered by thi...	OMIM:256520
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
3Mc Syndrome	Bilateral cryptorchidism, Umbilical hernia, Supernumerary nipple	ORPHA:293843
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit...	ORPHA:234
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Barber-Say Syndrome	Failure to thrive, Breast aplasia, Hypoplastic nipples, Shawl scrotum	ORPHA:1231
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Ute...	ORPHA:93271
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias...	OMIM:163950
Tolchin-Le Caignec Syndrome	Precocious puberty	OMIM:618971
Cerebellar-Facial-Dental Syndrome	Cryptorchidism, Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis	ORPHA:444072
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Cleft palate, Hypoplastic male external genitalia, Renal dysplasia, Anal atresia	OMIM:236670
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Cryptorchidism, Patent ductus arte...	ORPHA:3047
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Splenomegaly, Cryptorchidism, Hepatosplenomegaly, Failure to th...	OMIM:613563
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Pn...	OMIM:615846
Faundes-Banka Syndrome	Cryptorchidism, Premature thelarche, Delayed puberty	OMIM:619376
20Q13.33 Microdeletion Syndrome	Small for gestational age, Hypospadias, Decreased scrotal rugation, Failure to thrive in infancy	ORPHA:261311
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Patent ductus arteriosus, Intestinal malrotation	OMIM:613834
Monosomy 9P	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, High palate, Hernia, ...	ORPHA:261112
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal malrotation, Congenita...	ORPHA:199
Ehlers-Danlos Syndrome, Vascular Type	Inguinal hernia, Cryptorchidism, Cystocele, Cigarette-paper scars, Cervical insufficiency, Uterin...	OMIM:130050
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
1P36 Deletion Syndrome	Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, P...	ORPHA:1606
Coffin-Siris Syndrome 1	Inguinal hernia, Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Congenital dia...	OMIM:135900
De Barsy Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, Patent ductus arteriosus, High palate, Umbilical ...	ORPHA:2962
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Hypoplasia of penis, Inguinal hernia, Hypospadias, Camptodactyly of fi...	ORPHA:3107
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o...	ORPHA:333
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Acute Radiation Syndrome	Interstitial pneumonitis, Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, High palate, Abnormal renal physiology...	ORPHA:96176
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter...	ORPHA:438213
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc...	ORPHA:567546
Alg8-Cdg	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Anemia, Macroglossia, T...	ORPHA:79325
Acrocallosal Syndrome	Inguinal hernia, Hypospadias, Protruding tongue, Cryptorchidism, Cleft palate, Rectovaginal fistu...	OMIM:200990
Femoral-Facial Syndrome	Inguinal hernia, Maternal diabetes, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Polyc...	OMIM:134780
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia...	OMIM:620005
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Hypohidrosis	OMIM:613451
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Hemolytic anemia, Anal stenosis, Crossed fused renal ectopia,...	OMIM:147920
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Severe ...	ORPHA:83617
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Hepatomegaly, Cardiomegaly, Erythema nodosum, Microcytic anemia, Thrombocytopenia, ...	OMIM:256040
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Supernumerary nipple, Cryptorchidism, High palate, Umbilical hernia, Micropenis	OMIM:613884
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Aganglionic megacolon, Short-segment aganglionic megacolon, Portal hypertension, Cryptorchidism, ...	OMIM:609136
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,...	ORPHA:3404
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Absent uvula	OMIM:616531
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Saethre-Chotzen Syndrome	Cryptorchidism, Cleft palate, Narrow palate	ORPHA:794
Noonan Syndrome 10	Left ventricular hypertrophy, Cryptorchidism, High palate	OMIM:616564
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Cleft palate, Abnormality of the hypoth...	ORPHA:251014
Dubowitz Syndrome	Hypospadias, Eczema, Aplastic anemia, Cryptorchidism, Velopharyngeal insufficiency, Submucous cle...	OMIM:223370
Kbg Syndrome	Epispadias, Cryptorchidism	OMIM:148050
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Umbilical hernia	ORPHA:1101
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure...	ORPHA:3339
Holoprosencephaly	Hypoplasia of penis, Median cleft lip and palate, Failure to thrive in infancy, Diabetes insipidu...	ORPHA:2162
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Cryptorchidism, High, narrow palate, Increased mean ...	ORPHA:33364
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Myocarditis, Hypothyroidism, Media...	ORPHA:3452
Ivic Syndrome	Intestinal malrotation, Thrombocytopenia, Leukocytosis, Rectovaginal fistula, Tetralogy of Fallot...	OMIM:147750
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Hypospadias, Cryptorchidism, Neutropenia, Vesicoureteral r...	ORPHA:163956
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Bilateral cryptorchidism, Micropenis, Dispr...	OMIM:617403
Au-Kline Syndrome	Failure to thrive, Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of th...	OMIM:616580
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Narrow palate, Hypoplastic labia majora, Anteriorly placed anus, High...	OMIM:123790
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula	OMIM:618748
Frontometaphyseal Dysplasia 2	Hip contracture, Neurogenic bladder, Elbow contracture, Cryptorchidism, Pyloric stenosis, Patent ...	OMIM:617137
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoplasia of penis, Ureteral duplication, Hypospadias, Multicystic kidney dysplasi...	ORPHA:373
Congenital Myopathy 13	Cryptorchidism, Flexion contracture, High palate, Cleft palate	OMIM:255995
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis	OMIM:209010
Beta-Ureidopropionase Deficiency	Bifid scrotum, Bladder exstrophy, Anal atresia	OMIM:613161
Osteoglophonic Dysplasia	Hypospadias, Cryptorchidism, Chordee, High palate, Failure to thrive	OMIM:166250
Neuroendocrine Neoplasm Of Appendix	Mechanical ileus, Midgut malrotation, Ileal adenocarcinoma, Ovarian neoplasm, Adrenocorticotropic...	ORPHA:100079
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Eczema, Large for gestational age, Cryptorchidism, High palate, Fai...	OMIM:607721
C Syndrome	Multicystic kidney dysplasia, Failure to thrive in infancy, Female pseudohermaphroditism, Renal h...	ORPHA:1308
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cryptorchidism, Hydroureter, High palate, Cleft palate	OMIM:610759
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Coffin-Siris Syndrome	Hypospadias, Cryptorchidism, Horseshoe kidney, Papillary thyroid carcinoma, Aspiration pneumonia,...	ORPHA:1465
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d...	OMIM:102500
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pul...	ORPHA:1335
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Annular pancreas, Cleft palate, Ne...	ORPHA:264450
Wiskott-Aldrich Syndrome	Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int...	ORPHA:906
Snakebite Envenomation	Hypopituitarism, Neuromuscular dysphagia, Pseudobulbar paralysis, Thrombocytopenia	ORPHA:449285
Papa Syndrome	Type I diabetes mellitus, Proteinuria	ORPHA:69126
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Chronic otitis media, Vesicoureteral reflux,...	ORPHA:567
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi...	ORPHA:276608
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media, Asplenia	OMIM:618948
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hypertrophic cardio...	ORPHA:99901
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Cleft hard palate, Flexion contracture, Vesicoureteral reflu...	ORPHA:2152
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Cryptorchidism, Narrow palate, High palate, Minimal subcutaneous fat, Camptodact...	OMIM:182212
Double Outlet Left Ventricle	Cryptorchidism, Failure to thrive, Cardiomegaly	ORPHA:3427
Williams Syndrome	Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref...	ORPHA:904
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Coombs-positive hemolytic anemia, Gastrointestinal ...	ORPHA:464343
Cohen-Gibson Syndrome	Cryptorchidism, Patent ductus arteriosus, Flexion contracture, Overgrowth, Camptodactyly, Umbilic...	OMIM:617561
Noonan Syndrome 2	Patent ductus arteriosus, Cryptorchidism, Arthrogryposis multiplex congenita, High palate	OMIM:605275
Shprintzen-Goldberg Syndrome	Inguinal hernia, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Umbilical hernia, ...	ORPHA:2462
Aicardi Syndrome	Precocious puberty	OMIM:304050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Desmosterolosis	Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, Splenomegaly, Submucous cleft h...	ORPHA:35107
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Intraalveolar phospholipid accumulation, Leukopenia...	OMIM:222700
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Cleft hard palate, Flexion contracture, Vesicoureteral reflu...	ORPHA:261537
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, T...	OMIM:274000
Cockayne Syndrome B	Anhidrosis, Hepatomegaly, Renal insufficiency, Small for gestational age, Proteinuria, Cryptorchi...	OMIM:133540
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Wilson Disease	Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Hemolytic anemia, Elevated circulating a...	OMIM:277900
Mend Syndrome	Cryptorchidism, Crossed fused renal ectopia, Failure to thrive, High palate	OMIM:300960
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hip contracture, Flexion contracture, Hypogonadism	ORPHA:3042
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Intestinal perforation, Myocarditis, L...	ORPHA:544482
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ectopic anus, ...	ORPHA:1507
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, High palate, M...	OMIM:609945
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Myocarditis, Fulminant hepatitis, Leukocytosis, Odynophagia, Atele...	ORPHA:319213
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Pleural effusion, Pancreatitis, Pulmonary edema	ORPHA:188
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Cryptorchidism, Submucous cleft hard palate, High palate, Hydroneph...	ORPHA:1340
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Mosaic Trisomy 20	Cryptorchidism, Abnormality of the kidney, Cleft palate, Horseshoe kidney	ORPHA:1724
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Craniolenticulosutural Dysplasia	Cryptorchidism, High palate, Bifid uvula, Cleft palate	OMIM:607812
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Vesicoureteral reflux, Ann...	OMIM:616975
Hallermann-Streiff Syndrome	Cryptorchidism, High, narrow palate, Uveitis, Glossoptosis, Abdominal situs inversus, Hypothyroidism	ORPHA:2108
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Thrombocytopen...	ORPHA:2072
Acquired Purpura Fulminans	Hepatic failure, Thrombocytopenia	ORPHA:49566
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Chronic noninfectious...	ORPHA:97287
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum	ORPHA:2211
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Poland Syndrome	Duplicated collecting system, Diabetes mellitus, Hypospadias, Renal hypoplasia/aplasia, Cryptorch...	ORPHA:2911
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue	OMIM:614204
Crimean-Congo Hemorrhagic Fever	Hyperhidrosis, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutro...	ORPHA:99827
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Supernumerary nipple, Large for gestationa...	OMIM:213980
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cardiomegaly, Cryptorchidism, High, narrow palate, Pineal cyst, Delayed puberty, Submucous cleft ...	OMIM:300967
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Thickened glomerular baseme...	OMIM:619487
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato...	ORPHA:79128
Robinow Syndrome, Autosomal Recessive 1	Cryptorchidism, Nephrolithiasis, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, Nep...	OMIM:268310
11Q22.2Q22.3 Microdeletion Syndrome	High, narrow palate, Abnormal social behavior, Obesity	ORPHA:444002
X-Linked Intellectual Disability, Armfield Type	Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Aminoaciduria, Organic a...	ORPHA:85276
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Toriello-Carey Syndrome	Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Anteriorly placed ...	ORPHA:3338
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Shyness, Bilateral cryptorchidism, Cryptorch...	ORPHA:466791
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High palate, Hepatomegaly, Hyposp...	OMIM:619488
Hypotonia, Ataxia, And Delayed Development Syndrome	Vesicoureteral reflux, Cryptorchidism, Micropenis	OMIM:617330
Elsahy-Waters Syndrome	Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High...	OMIM:211380
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Submucous cleft har...	OMIM:619194
Ctcf-Related Neurodevelopmental Disorder	Inguinal hernia, Small for gestational age, Phimosis, Cryptorchidism, Patent ductus arteriosus, C...	ORPHA:363611
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Urinary retention, Delayed pubert...	ORPHA:1328
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	OMIM:608747
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Delayed puberty, Nephrolithiasis...	OMIM:232200
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A...	OMIM:608149
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Obesity, Increased circulating ACTH level, Nephrolithiasis, Abdominal obesity,...	OMIM:219090
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Abnormal liver lobulation,...	OMIM:608022
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:506358
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic ...	ORPHA:534
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morpholo...	ORPHA:505248
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ...	OMIM:603233
Ddost-Cdg	Nephrotic range proteinuria, Primary hypothyroidism	ORPHA:300536
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym...	OMIM:619991
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Pulmonary hypoplasia, Dysphagia	OMIM:616867
Pmm2-Cdg	Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g...	ORPHA:79318
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary hypoplasia	OMIM:619003
Spondyloocular Syndrome	Decreased body weight, Unilateral cryptorchidism, Duodenal ulcer	OMIM:605822
Hereditary Chronic Pancreatitis	Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Lower-limb joint contracture, Delayed puberty, Lipo...	ORPHA:459070
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczema, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, A...	ORPHA:2308
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ...	OMIM:214800
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Adnp Syndrome	Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Truncal obesity, Impair...	ORPHA:404448
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Hallermann-Streiff Syndrome	Small for gestational age, Cryptorchidism, High, narrow palate, Recurrent pneumonia, Narrow palat...	OMIM:234100
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula...	OMIM:619708
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Paralytic ileus, Ascites, Nephrocalcinosis, Rena...	OMIM:276700
Noonan Syndrome 3	Cryptorchidism, Juvenile myelomonocytic leukemia, High palate	OMIM:609942
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Choleli...	OMIM:263700
Aymé-Gripp Syndrome	Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arte...	ORPHA:1272
Scimitar Syndrome	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm...	ORPHA:185
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Cleft hard palate, Flexion contracture, Vesicoureteral reflu...	ORPHA:261552
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the gallbladder, Cleft pal...	ORPHA:280
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia...	ORPHA:818
White-Kernohan Syndrome	Hydroureter, Obesity, Horseshoe kidney, Anteriorly placed anus, Rectovaginal fistula, Hypothyroid...	OMIM:619426
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Bilateral cryptorchidism, Pyloric stenosis, Knee flexion con...	OMIM:617402
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Rubinstein-Taybi Syndrome 1	Hypospadias, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Papillary cystadenoma...	OMIM:180849
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Alg3-Cdg	Abnormality of the gastrointestinal tract, Cardiomyopathy, Macroglossia, High palate, Decreased l...	ORPHA:79321
Robinow Syndrome, Autosomal Dominant 1	Inguinal hernia, Cryptorchidism, Narrow palate, Hypoplastic labia majora, Macroglossia, Clitoral ...	OMIM:180700
Schneckenbecken Dysplasia	Cryptorchidism, Cleft palate	ORPHA:3144
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Hypoplasia...	OMIM:613177
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Pneumonia, Intestinal malrotation, Cryptorchidis...	ORPHA:353281
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Urinary inc...	ORPHA:2729
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small for gestational age, Hypospadias, Cryptorchidism, High palate, Micropenis	OMIM:309590
Ciliary Dyskinesia, Primary, 19	Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614935
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Cryptorchidism, Fetal pyelectasis, Failure to thrive, High palate	OMIM:619512
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Leukopenia, Emphysema, Hepatomegaly, Hemolytic ...	ORPHA:797
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
17Q11 Microdeletion Syndrome	Precocious puberty, Renovascular hypertension, Glomus jugular tumor, Elevated circulating parathy...	ORPHA:97685
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Aplastic anemia, Cryptorchidism, Cleft palate, High palate, Neutropeni...	ORPHA:221016
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, High palate, Horseshoe kidney	ORPHA:221120
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Renal hypoplasia, Lobula...	OMIM:269860
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Anal stenosis, Recurrent bronchitis, Recurrent pneumonia, Bronchiect...	OMIM:251260
Bacterial Toxic-Shock Syndrome	Abscess, Pneumonia, Respiratory tract infection, Myocarditis, Peritonitis, Increased circulating ...	ORPHA:36234
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Vaginal neoplasm, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria,...	ORPHA:1018
Fetal Akinesia Deformation Sequence 1	Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Cryptorch...	OMIM:208150
Carpenter Syndrome 2	Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, High, narrow palate, Obesity, Nar...	OMIM:614976
Atelosteogenesis, Type I	Cryptorchidism, Cleft palate	OMIM:108720
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, High p...	ORPHA:46059
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormone concentratio...	ORPHA:2796
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Cryptorchidism, Enamel hypoplasia, Patent ductus arteriosus, X...	ORPHA:2363
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, L...	OMIM:311200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Cryptorchidism, Failure to thrive, High palate, Bifid uvula	OMIM:617506
Lymphangioleiomyomatosis	Abnormal urinary color, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Abnormal morpholog...	ORPHA:538
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Abnormal social beh...	ORPHA:391417
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology	OMIM:263210
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Neurofibromatosis-Noonan Syndrome	Cryptorchidism	OMIM:601321
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Microphthalmia With Limb Anomalies	Cryptorchidism, Cleft palate, Horseshoe kidney, High palate, Failure to thrive	ORPHA:1106
Monosomy 9Q22.3	Umbilical hernia, Ovarian fibroma, Tall stature, Large for gestational age	ORPHA:77301
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, High, narr...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, High, narr...	ORPHA:352665
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Truncus Arteriosus	Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ...	ORPHA:3384
Orofaciodigital Syndrome Xiv	Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Anterio...	OMIM:615948
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Proteinuria, Renal cyst, Nephrot...	OMIM:212065
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Intestinal bleeding, Bone marrow hypocellularity, Pulmonary fibrosis, Gastrointestinal te...	OMIM:612199
Diaphragmatic Hernia 4, With Cardiovascular Defects	Cryptorchidism, Hepatomegaly	OMIM:620025
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Decreased response to growth hormone stimulation tes...	ORPHA:470
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Bile duct proliferati...	OMIM:612284
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Micropenis, Shawl scrotum	OMIM:620076
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Tibial Hemimelia	Hypospadias, Cryptorchidism, Cleft palate, Knee flexion contracture, Ambiguous genitalia	ORPHA:93322
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,...	OMIM:314390
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Mac...	ORPHA:261337
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia, Intestinal malrotation	ORPHA:2140
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Malabsorption, Splenomegaly, Arthritis, Macroglossia, Macro...	ORPHA:93
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Proteinuria, Focal segmenta...	ORPHA:550
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Anterior pituitary ...	OMIM:619841
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Bicornuate uterus, Proteinuria	OMIM:222448
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Abnormal lung l...	ORPHA:141127
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Bronchitis, Thro...	ORPHA:289390
Catel-Manzke Syndrome	Inguinal hernia, Cryptorchidism, Cleft palate, Glossoptosis, High palate, Camptodactyly, Umbilica...	OMIM:616145
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Multiple joint contractures, Inguinal hernia, Cryptorchidism, Flexion c...	ORPHA:536471
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Dilated third ventricle, Aplasia of th...	ORPHA:434179
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Delayed puberty, Lipiduria	OMIM:301500
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Treacher Collins Syndrome 1	Cryptorchidism, Abnormal parotid gland morphology, Cleft soft palate, Cleft palate	OMIM:154500
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Recurrent sinopulmonary infections,...	ORPHA:647
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Neoplasm of the t...	ORPHA:744
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Pulmonary hypoplasia	OMIM:616733
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst...	ORPHA:33001
Yunis-Varon Syndrome	Hypospadias, Cardiomegaly, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renovascular hy...	ORPHA:3472
Pheochromocytoma	Pheochromocytoma, Renal artery stenosis, Elevated urinary norepinephrine level, Proteinuria	OMIM:171300
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Cryptorchidis...	OMIM:309000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Cockayne Syndrome	Anhidrosis, Hepatomegaly, Diabetes mellitus, Neurogenic bladder, Urinary incontinence, Cachexia, ...	ORPHA:191
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Normochromic anemia, Thrombocytopenia, Dysphagia	OMIM:254900
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop...	ORPHA:293173
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Abnormality of the kidne...	OMIM:235730
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Melena, Neonatal alloimmune thrombocytopenia	ORPHA:853
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Small for gestational age, Hypospadias, Increased mean platelet vo...	OMIM:222470
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Macroglossia, Mucopolysacchariduri...	OMIM:252500
Sponastrime Dysplasia	Precocious puberty, Hypothyroidism, Hypospadias	ORPHA:93357
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	High palate, Pulmonary hypoplasia	OMIM:617468
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Large for gestational age, Cleft palate, Hydrocele testis, Umbilical hernia, Hyp...	OMIM:280000
Nicolaides-Baraitser Syndrome	Cryptorchidism, Failure to thrive, Eczema, High, narrow palate	OMIM:601358
Larsen Syndrome	Cryptorchidism, Cleft palate	OMIM:150250
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Hydroureter, Aganglionic megacolon, Eczema, Abnormality of the kidney, Abnormality ...	ORPHA:2273
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, S...	ORPHA:2636
Marshall-Smith Syndrome	Omphalocele, Bilateral cryptorchidism, Cryptorchidism, Pyloric stenosis, Patent ductus arteriosus...	OMIM:602535
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Abnormal erythrocyte enzyme l...	ORPHA:447
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Scarring, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome...	OMIM:601776
Omodysplasia 1	Cryptorchidism, Umbilical hernia	OMIM:258315
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Keratoconjunctivitis sicca, Absent scrotum	OMIM:618479
Coffin-Siris Syndrome 12	Hypospadias, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard p...	OMIM:619325
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Microglossia, Pulmonary hypoplasia, Cleft palate	OMIM:241800
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria	ORPHA:834
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Maternal diabetes, Decreased urinary...	ORPHA:358
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria	ORPHA:761
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef...	ORPHA:2257
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroid...	ORPHA:37042
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, Hepatic failure, Thromb...	OMIM:301072
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Ankle flexion contracture, Cryptorchidism, Patent ductus arte...	OMIM:268300
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Abnormality of the endocrine system, ...	ORPHA:3385
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, A...	ORPHA:95455
Myhre Syndrome	Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Obesity, Cleft palate, Campt...	OMIM:139210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S...	OMIM:619418
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Large for gestational age, Birth length greater than 97th percentile, Patent duc...	OMIM:300868
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse, Inguinal hernia	OMIM:123700
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Anemia, High palate, Gastroesophageal reflux, Pulmonic stenosis, ...	OMIM:620185
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, High palate, Pulmonary hypoplasia	OMIM:255320
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Sple...	ORPHA:79277
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot...	ORPHA:1199
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis...	OMIM:244400
Wrinkly Skin Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, High palate, Umbilical hernia, Failure to thrive	ORPHA:2834
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, High palate, Chronic otitis...	OMIM:619503
Aspartylglucosaminuria	Macroorchidism, Aspartylglucosaminuria	OMIM:208400
Isolated Biliary Atresia	Hepatomegaly, Hypopituitarism, Small for gestational age, Dark yellow urine, Atretic gallbladder,...	ORPHA:30391
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Partial anomalous pulmona...	ORPHA:95430
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Cleft palate, Pleural effusion, Pulmonary hypoplasia, Hy...	OMIM:616897
6Q Terminal Deletion Syndrome	Hypospadias, Phimosis, High, narrow palate, Obesity, Failure to thrive	ORPHA:75857
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Thrombocytopenia, Enlarged tonsils, Leukopenia, Elliptocytosis, Bone ...	ORPHA:2785
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Nephrocalc...	ORPHA:94086
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Eczema, Recurrent skin infections, Aganglionic megacol...	OMIM:308205
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas...	OMIM:202650
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega...	OMIM:610199
Spondyloenchondrodysplasia	Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hemat...	ORPHA:1855
Rift Valley Fever	Elevated hepatic transaminase, Hematemesis, Jaundice, Hepatitis, Anemia, Melena, Thrombocytopenia	ORPHA:319251
Chromosome 16P13.3 Duplication Syndrome	Cryptorchidism, Inguinal hernia, Bifid uvula, Camptodactyly	OMIM:613458
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Exercise-induced myoglobinuria	OMIM:232800
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, High, narrow palate, Cystocele, Cigarette-paper sca...	ORPHA:286
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lym...	ORPHA:2331
Autosomal Dominant Kenny-Caffey Syndrome	Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati...	ORPHA:93325
Witteveen-Kolk Syndrome	Inguinal hernia, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral c...	OMIM:613406
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Disproportionate tall stature, Overgrowth, High palate, Micropenis, Sl...	ORPHA:457359
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Velopharyngeal insufficiency, Increased body weight	OMIM:182290
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Aplasi...	OMIM:102700
Autosomal Recessive Faciodigitogenital Syndrome	High palate, Shawl scrotum	ORPHA:1974
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Myoglobinuria, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	ORPHA:71212
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, High palate, Thrombocytopenia, Dysphagia	ORPHA:572798
Tick-Borne Encephalitis	Elevated hepatic transaminase, Leukocytosis, Leukopenia, Dysphagia, Abnormal myocardium morpholog...	ORPHA:297
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Chronic sinusitis, Recurrent otitis media, Abdominal situs inversus	OMIM:619607
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Aganglionic megacolon, Abnormality of the...	ORPHA:821
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Hypospadias, Ectopic kidney, Cryptorchidism, Submucous cleft hard pa...	OMIM:607872
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Hematemesis, Decreased platelet glycoprotein Ib-IX-V, Giant platelet...	ORPHA:274
Focal Dermal Hypoplasia	Omphalocele, Ureteral duplication, Inguinal hernia, Intestinal malrotation, Supernumerary nipple,...	OMIM:305600
Eisenmenger Syndrome	Hepatomegaly, Brain abscess, Ventricular septal defect, Hypochromic microcytic anemia, Aortopulmo...	ORPHA:97214
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ...	ORPHA:779
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hypothyroidism	OMIM:251900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Hypoplastic nipples, Anemia	ORPHA:261323
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, High palate, Anemia	OMIM:619743
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Pneumonia, Intestinal malrotation, Abnormality o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Pneumonia, Intestinal malrotation, Abnormality o...	ORPHA:353277
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Leukocytosis, Aspiration pneumonia, Dysphagia, Thrombocytosis, Thr...	ORPHA:94093
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Primrose Syndrome	Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cry...	OMIM:259050
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased body weight	ORPHA:890
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Hepatic steatosis, Osteomyelitis, Hypospadias, Overweight, High, narrow palate, Sh...	OMIM:619475
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, High palate, Pulmonary hypoplasia, Dysphagia, Pate...	OMIM:616866
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Cystic Fibrosis	Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Recurrent pneumonia, Ileus, Bron...	OMIM:219700
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Obesity, Primary amenorrhea	ORPHA:319675
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Atelosteogenesis, Type Ii	Pulmonary hypoplasia, Cleft palate	OMIM:256050
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Obe...	ORPHA:444077
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Prolonged neonatal jau...	OMIM:210710
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Hypothyroidism, Mild proteinuria	OMIM:619147
Thanatophoric Dysplasia	Atrial septal defect, Pulmonary hypoplasia	ORPHA:2655
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Pericarditis, Abnormality of the gas...	ORPHA:99826
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Wrinkly Skin Syndrome	Inguinal hernia, Cryptorchidism, High palate, Umbilical hernia, Failure to thrive	OMIM:278250
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Pneumonia, Hematemesis, Leukocytosis, Anemia, Melena, Pleural effu...	ORPHA:340
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Abnormal heart morphology, Neutropenia, G...	ORPHA:79282
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash...	OMIM:619381
Zimmermann-Laband Syndrome 1	Hepatomegaly, Splenomegaly, Long penis, Nephrolithiasis, High palate	OMIM:135500
Cryoglobulinemic Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:91138
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Hypocomplementemic Urticarial Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:36412
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ...	OMIM:113620
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren...	ORPHA:411629
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Posteriorly placed anus, Asplenia, Biliary atresia, H...	OMIM:306955
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Nephropathy, Compensated hypothyroidism, Proteinuria	ORPHA:247691
Menke-Hennekam Syndrome 1	Inguinal hernia, Cryptorchidism, Flexion contracture, Cleft palate, High palate, Umbilical hernia	OMIM:618332
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad...	ORPHA:512
Leptospirosis	Hepatomegaly, Pericarditis, Jaundice, Hepatitis, Lymphadenopathy, Elevated serum transaminases du...	ORPHA:509
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, External genital hypoplasia, Interphalangeal joint contracture of finger, Large for ...	ORPHA:96334
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia, Hypoplastic heart, Cleft palate	OMIM:312150
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Czeizel-Losonci Syndrome	Dextrocardia, Tracheoesophageal fistula, High palate, Pulmonary hypoplasia, Hypoplastic nipples	ORPHA:2437
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarc...	ORPHA:171
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Glycogen Storage Disease Xii	Cholelithiasis, Hemoglobinuria, Delayed puberty	OMIM:611881
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Achondrogenesis Type 2	Pulmonary hypoplasia	ORPHA:93296
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Pancreatic fibrosis, Proteinuria, Pancreatic cysts, Chronic kidney disease, ...	OMIM:208500
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis	OMIM:231680
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch...	ORPHA:805
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia, Hypoplastic heart, Cleft palate	OMIM:253290
Atelosteogenesis Type I	Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate	ORPHA:1190
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short uvula, Cleft palate, High palate, Hepatic fibrosis, Pulmonary hypoplasia	OMIM:614091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef...	OMIM:263520
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Cryptorchidism, Rectal...	OMIM:309800
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Abnormality of the lymphatic system, Abnormal heart morphology, T...	ORPHA:487796
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Lymphadenopathy, Enlargement of p...	ORPHA:79078
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hypospadias, Hydronephrosis, Cleft palate	OMIM:304120
Fibular Hemimelia	Thrombocytopenia, Abnormal heart morphology	ORPHA:93323
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Hematuria	ORPHA:48435
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis	ORPHA:183
Legionnaires Disease	Hematuria, Renal insufficiency, Proteinuria	ORPHA:549
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Larg...	ORPHA:500095
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Abnormal social behavior, Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Williams-Beuren Syndrome	Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicou...	OMIM:194050
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Ventricular septal defect, Abnormal lung morphology, A...	ORPHA:1708
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hemoglobinuria	OMIM:194380
Majeed Syndrome	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:77297
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Delayed puberty,...	OMIM:232240
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea...	ORPHA:980
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Delayed puberty,...	ORPHA:324
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury	ORPHA:57
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Xfe Progeroid Syndrome	Renal insufficiency, Premature ovarian insufficiency, Proteinuria	OMIM:610965
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l...	ORPHA:99050
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Cleft palate, Pulmonary hypoplasia, Pulmonary artery...	ORPHA:1692
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia, Cardiomegaly	OMIM:620306
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lympha...	ORPHA:51
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,...	ORPHA:958
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia, Dysphagia	ORPHA:171430
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Pulmonary hypoplasia	OMIM:236500
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia, Cleft palate	ORPHA:85166
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Small for gestational age, Failure to thrive in infancy, Cryptorchidi...	OMIM:216340
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Jaundice, Hepatitis, Hepatic necrosis...	ORPHA:90062
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Joubert Syndrome 21	Splenomegaly, Pulmonary hypoplasia, Dysphagia	OMIM:615636
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Tetrasomy 5P	Recurrent respiratory infections, High palate, Pulmonary hypoplasia	ORPHA:3309
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria	OMIM:201475
Greenberg Dysplasia	Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet...	OMIM:215140
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Lamb-Shaffer Syndrome	Abnormal social behavior	ORPHA:530983
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Pleural effusion, High palate, Pulmonary hypoplasia	OMIM:620369
Thanatophoric Dysplasia, Type I	Pulmonary hypoplasia	OMIM:187600
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect...	ORPHA:99125
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Thoracoabdominal Syndrome	Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries, Cleft palate	OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage...	OMIM:619472
Osteogenesis Imperfecta	Abnormal endocardium morphology, Intestinal obstruction, Mitral valve prolapse, Pulmonary hypopla...	ORPHA:666
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Pulmonary hypoplasia, Microcolon, Ileal atresia	OMIM:619351
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Cleft palate, Glossoptosis, Abnormal cardiac septum morphology, ...	ORPHA:90652
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia	OMIM:151210
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Congenital Myopathy 17	Respiratory tract infection, High palate, Pulmonary hypoplasia, Cleft palate	OMIM:618975
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Pulmonary hypoplasia, Anemia	ORPHA:86309
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury	ORPHA:90068
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, High palate, Pulmonary hypoplasia	ORPHA:536467
Microcephaly-Micromelia Syndrome	Pulmonary hypoplasia, Cleft palate	OMIM:251230
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Decreased liver function, Thrombocytopenia	ORPHA:466650
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Abnormal cardiac septum morphology, Pulmonary hypoplasia, Thyroid hypoplasia, Single ventricle	OMIM:308050
Stuve-Wiedemann Syndrome 1	Pulmonary arterial medial hypertrophy, Smooth tongue, Pulmonary hypoplasia, Dysphagia	OMIM:601559
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Abnormal social behavior, Cholecystitis	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Abnormal social behavior, Cholecystitis	ORPHA:309263
Neu-Laxova Syndrome	Submucous cleft hard palate, Pulmonary hypoplasia, Bifid uvula, Cleft palate	ORPHA:2671
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Cleft palate, Pulmonary hypoplasia, Hamartoma of tongue	OMIM:616546
Atelosteogenesis Type Ii	Bilateral cleft palate, Pulmonary hypoplasia, Cleft palate	ORPHA:56304
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Achondrogenesis, Type Ia	Pulmonary hypoplasia, Protruding tongue	OMIM:200600
Raine Syndrome	High palate, Pulmonary hypoplasia, Cleft palate, Protruding tongue	OMIM:259775
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ...	ORPHA:91500
Achondroplasia	Pulmonary hypoplasia	OMIM:100800
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Relapsing Polychondritis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:728
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Childhood Absence Epilepsy	Abnormal social behavior, Urinary incontinence	ORPHA:64280
Acrorenal-Mandibular Syndrome	Absent nipple, High palate, Pulmonary hypoplasia, Narrow palate	OMIM:200980
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Hepatosplenomegaly, ...	ORPHA:646
Restrictive Dermopathy	Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Trans...	ORPHA:1662
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria	OMIM:619127
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Protruding tongue	ORPHA:50945
Dihydropyrimidine Dehydrogenase Deficiency	Uraciluria, Abnormal social behavior, High palate	ORPHA:1675
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior	ORPHA:1020
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Restrictive Dermopathy 1	Atrial septal defect, Submucous cleft hard palate, Pulmonary hypoplasia	OMIM:275210
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia	OMIM:616503
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior	ORPHA:314647
Craniofacial Microsomia 1	Tetralogy of Fallot, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate	OMIM:164210

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.

There is no histopathology data for Lhcgr

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 Lhcgr.

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

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
Lhcgr^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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