banner
Genes Phenotypes Help, News, Blog

Gene: Lhcgr MGI:96783

Log in to follow

Gene Summary

Name:
luteinizing hormone/choriogonadotropin receptor
Synonyms:
LH-R,  Gpcr19-rs1,  Lhr

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small lung Lhcgrtm1(KOMP)Vlcg HOM Early adult 0.00
small liver Lhcgrtm1(KOMP)Vlcg HOM Early adult 0.00
small spleen Lhcgrtm1(KOMP)Vlcg HOM Early adult 0.00
decreased brain size Lhcgrtm1(KOMP)Vlcg HOM Early adult 0.00
increased leukocyte cell number Lhcgrtm1(KOMP)Vlcg HOM Early adult 1.08×10-11
thrombocytopenia Lhcgrtm1(KOMP)Vlcg HOM Early adult 6.48×10-06
small stomach Lhcgrtm1(KOMP)Vlcg HOM Early adult 0.00
small heart Lhcgrtm1(KOMP)Vlcg HOM Early adult 0.00
increased lymphocyte cell number Lhcgrtm1(KOMP)Vlcg HOM Early adult 8.00×10-06
decreased mean corpuscular volume Lhcgrtm1(KOMP)Vlcg HOM Early adult 8.27×10-05
small thymus Lhcgrtm1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

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

Disease Similarity of
phenotypes		 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
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Spermatogenic Failure 28
Decreased serum testosterone concentration, Decreased testicular size, Elevated circulating lutei... OMIM:618086
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Cryptorchidi... OMIM:300869
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Inguinal hernia, Elevated circulating follicle st... OMIM:300068
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300511
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... ORPHA:432
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619938
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Premature Ovarian Failure 22
Elevated circulating follicle stimulating hormone level, Decreased cirrculating antimullerian hor... OMIM:620548
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Inguinal hernia, Male infertility, Bila... OMIM:261550
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Premature Ovarian Failure 15
Elevated circulating follicle stimulating hormone level, Decreased cirrculating antimullerian hor... OMIM:618096
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... OMIM:620501
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity, Hypoplas... ORPHA:127
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent urinary tract infections, Decreased response to growt... OMIM:307200
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Weight loss, Retrograde ejaculation, De... ORPHA:49041
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Ovarian Dysgenesis 1
Primary amenorrhea, Increased circulating gonadotropin level, Gonadal dysgenesis OMIM:233300
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
48,Xxxy Syndrome
Small scrotum, Renal dysplasia, Hypogonadism, Decreased testicular size, Azoospermia, Obesity, Ty... ORPHA:96263
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Failure to thrive, Cryptorchidism, Thrombocytopenia, Micropenis OMIM:615597
Stt3B-Cdg
Small scrotum, Failure to thrive, Cryptorchidism, Thrombocytopenia, Micropenis ORPHA:370924
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity ORPHA:261483
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
49,Xxxxy Syndrome
Small scrotum, Renal dysplasia, Hypogonadism, Decreased testicular size, Azoospermia, Type II dia... ORPHA:96264
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Autosomal Recessive Amelia
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:1027
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Periodontitis, Central adrenal insufficiency, Cr... ORPHA:739
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infil... OMIM:131400
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Hao-Fountain Syndrome
Micropenis, Premature adrenarche, Cryptorchidism OMIM:616863
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Stt3A-Cdg
Micropenis, Small scrotum, Cryptorchidism, Failure to thrive ORPHA:370921
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis, Obesity OMIM:615983
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism ORPHA:228390
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ... ORPHA:465508
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Abnormal female e... ORPHA:95699
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Small scrotum, Hypoplasia of penis ORPHA:2983
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Tall stature, Azoospermia, ... OMIM:400045
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:168593
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:275400
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Melioidosis
Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen... ORPHA:31202
Perrault Syndrome 1
Primary amenorrhea, High palate, Increased circulating gonadotropin level, Gonadal dysgenesis OMIM:233400
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Gemignani Syndrome
Hypoplasia of penis, Delayed puberty, Abnormal testis morphology ORPHA:2074
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Bowen-Conradi Syndrome
Cryptorchidism, Camptodactyly of finger ORPHA:1270
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... ORPHA:347
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Decreased serum testost... ORPHA:3044
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... ORPHA:48
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... OMIM:614962
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... ORPHA:3085
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hyperactive renin-angiotensin system, Failure to thrive, Abnormal female external geni... ORPHA:90790
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Hypoplas... ORPHA:3055
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothyroidi... ORPHA:3363
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Increased serum test... ORPHA:96181
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Incr... ORPHA:785
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia, Cryptorchidism ORPHA:1568
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Class III obesity, Decreased response to growth hormone stimul... OMIM:176270
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Mccune-Albright Syndrome
Precocious puberty, Renal phosphate wasting, Irregular menstruation, Increased circulating cortis... ORPHA:562
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:2083
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Renal cyst, Abnormality of th... OMIM:615982
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Small scrotum, Cryptorchidism ORPHA:1970
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Abnormal cir... ORPHA:90794
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent urinary tract infections, Recurr... OMIM:300755
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology, High palate ORPHA:2233
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Short Stature-Micrognathia Syndrome
Small scrotum, Failure to thrive, Cryptorchidism, Decreased body weight, Penoscrotal hypospadias,... OMIM:617164
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Image Syndrome
Hypogonadism, Cryptorchidism, Hydronephrosis, Adrenal hypoplasia, Hypospadias ORPHA:85173
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism, Failure to thrive OMIM:619310
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Bifid uvula, Small for gestational age, Abnormal thalamus morphology, ... ORPHA:2959
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Intestinal obstruction, Hematuri... ORPHA:900
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia, Cryptorchidism ORPHA:2917
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate, Camptodactyly of finger ORPHA:376
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Warburg Micro Syndrome 4
Micropenis, Small scrotum, Cryptorchidism, Decreased testicular size OMIM:615663
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Ohdo Syndrome
Proteinuria, Small scrotum, Cryptorchidism OMIM:249620
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Hepatic steatosis, Oligozoospermia, Infertility OMIM:615703
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:1621
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Loss of gluteal subcut... ORPHA:280356
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Knee flexion contracture, Decreased body weight OMIM:616681
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism ORPHA:2022
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, O... OMIM:615993
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Cryptorchidism, Decreased response to growth hormo... ORPHA:254516
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Igg4-Related Ophthalmic Disease
Keratitis, Colon cancer, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituita... ORPHA:449563
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... OMIM:615989
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Hypospadias, Cryptorchidism, Failure to thrive ORPHA:250994
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Small scrotum, Cryptorchidism, Micropenis, High palate ORPHA:98905
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hypogonadotr... OMIM:610628
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Tall stature, Obesity, Female ... ORPHA:91
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Proteinuria, Bicornuate uterus, Primary amenorrhea OMIM:191830
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hy... OMIM:618419
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Hypospadias, Cleft palate ORPHA:2505
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Moderate albuminuria, Hypogonadism, External genital hypoplasia, Obesity, Cryptorc... OMIM:614231
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Failure to thrive, Hypogonadism, Cryptorchidism, High palate, Absence of labia maj... ORPHA:2990
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Micropenis, Small scrotum, Cryptorchidism, Microphallus OMIM:300486
Cryptococcosis
Pneumonia, Osteomyelitis, Peritonitis, Prostatitis, Cirrhosis, Lymphoid leukemia, Mediastinal lym... ORPHA:1546
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ambiguous genitalia,... ORPHA:261344
Bardet-Biedl Syndrome 1
High, narrow palate, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, ... OMIM:209900
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia ORPHA:1918
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Small for gestational age OMIM:610756
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Hypogonadism, Abnormality of the ureter, Bilateral cleft palate, Hypohidrosis ORPHA:3253
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas... OMIM:620367
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Recurrent otitis media, Cryptorchidism, Proteinuria,... ORPHA:2728
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Recurrent pneumonia, Failure to thrive, Cryptorchidism, Micropenis, Hypospadias, S... OMIM:607143
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis OMIM:301900
Warburg Micro Syndrome 3
Small scrotum, Decreased testicular size, Micropenis, Narrow palate, Hypoplastic labia minora OMIM:614222
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Orthostatic Hypotension 1
Nocturia, High palate, Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... ORPHA:95496
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... OMIM:158330
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... OMIM:262190
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Warburg Micro Syndrome 2
Micropenis, Small scrotum, Hypoplastic labia majora, Cryptorchidism OMIM:614225
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... OMIM:607616
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Jau... ORPHA:93111
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Small for gestational age, Flexion contracture of finger, Cry... ORPHA:319332
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Rudiger Syndrome
Ureterovesical stenosis, Inguinal hernia, Ovarian cyst, Micropenis, Flexion contracture, Bicornua... OMIM:268650
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... OMIM:613101
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Ectopic anus, Secondary a... ORPHA:1643
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:752
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidn... OMIM:601076
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Young Syndrome
Obstructive azoospermia, Decreased fertility, Abnormality of the pancreas ORPHA:3471
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Vesicoureteral reflux, Cryptorchidism, Micropenis, High palate, Small for gestatio... OMIM:609625
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... ORPHA:95619
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigment gallstones, Nephroli... ORPHA:56
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu... OMIM:610489
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism ORPHA:3306
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... OMIM:300148
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... ORPHA:189427
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... OMIM:608709
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Median cleft palate, Cryptorchidism, Ambiguo... OMIM:612651
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Inguinal hernia, Cryptorchidism ORPHA:1174
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Hypothalamic gonadot... ORPHA:478
Developmental And Epileptic Encephalopathy 70
Flexion contracture, Cryptorchidism OMIM:618298
Coffin-Siris Syndrome 8
Inguinal hernia, Cryptorchidism, Failure to thrive OMIM:618362
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Red... OMIM:620438
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis,... OMIM:614880
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis ORPHA:85201
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Recombinant 8 Syndrome
Small scrotum, Cryptorchidism, Abnormality of the anus, Abnormality of the kidney, Hypoplastic ma... ORPHA:96167
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Renal dyspl... OMIM:314300
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Temple Syndrome
Precocious puberty, Decreased testicular size, Maturity-onset diabetes of the young, Cryptorchidism OMIM:616222
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Arthrogryposis, Distal, Type 1C
Bifid uvula, Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Cr... OMIM:619110
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Nephrolithiasis, Male infertility, Spermatocele OMIM:301060
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Obesity OMIM:615981
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Perrault Syndrome 5
Primary amenorrhea, High palate, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:616138
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Bicornuate uterus, Cleft... OMIM:615524
Flat Face-Microstomia-Ear Anomaly Syndrome
High, narrow palate, Small scrotum, Cryptorchidism ORPHA:1968
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnormality of the uterus, Recurren... ORPHA:2970
H Syndrome
Bronchiectasis, Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic a... ORPHA:168569
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Clef... ORPHA:1300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Elevated circulating hepatic... ORPHA:210136
Meckel Syndrome 12
Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Vaginal atresia, Hypoplasia of... OMIM:616258
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia, Failure to thrive OMIM:619151
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Hemochromatosis, Type 1
Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirr... OMIM:235200
Chromosome 15Q26-Qter Deletion Syndrome
Failure to thrive, Cryptorchidism, Micropenis, Hypospadias, Small for gestational age OMIM:612626
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Intellectual Disability, Wolff Type
Camptodactyly of finger, Inguinal hernia, Cryptorchidism, Abnormal intestine morphology, Hypospadias ORPHA:3080
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Crossed fused renal ectopia, Cryp... ORPHA:3097
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypothyro... ORPHA:397590
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Abnormality of the u... ORPHA:101006
Alazami-Yuan Syndrome
High palate, Cryptorchidism OMIM:617126
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Mosaic Trisomy 14
Failure to thrive, Camptodactyly of finger, Cryptorchidism, Ectopic anus, High palate, Hypoplasia... ORPHA:1703
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Umbilical hernia, Tall stature, Birth length greater than 97th percentile... OMIM:618786
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the uret... ORPHA:2377
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, High palate, Increased circulating gonado... OMIM:110100
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Arthrogryposis multiplex congenita, Cryptorchidism OMIM:618766
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia OMIM:617914
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Gordon Holmes Syndrome
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... OMIM:212840
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Decreased body weight, Hiatus hernia, Shawl scrotum, Micropenis, H... OMIM:300895
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Inguinal hernia, Cryptorchidism OMIM:250951
Isolated Hemihyperplasia
Inguinal hernia, Cryptorchidism ORPHA:2128
Partington Syndrome
Macroorchidism ORPHA:94083
Mmep Syndrome
Cryptorchidism ORPHA:3434
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Nocturia ORPHA:2073
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young ORPHA:254531
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Hypospadias, Recurrent pneumonia, Failure to thrive, Breast ... OMIM:613803
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Femoral hernia... ORPHA:2849
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:244200
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate OMIM:612370
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Inguinal hernia, Cryptorchidism, Multiple joint contractures,... OMIM:301830
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Multicystic kidney dysplasia, Anal atresia, Cryptorchidism ORPHA:3301
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Classic Galactosemia
Ascites, Cryptorchidism, Jaundice, Decreased fertility in females, Oligomenorrhea, Decreased seru... ORPHA:79239
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Premature ovarian ins... ORPHA:3375
Non-Distal Duplication 10Q
High palate, Cryptorchidism ORPHA:1695
Fetal Akinesia Deformation Sequence 4
Camptodactyly, High palate, Arthrogryposis multiplex congenita, Cryptorchidism OMIM:618393
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency, Cryptorchidism, Failure to thrive OMIM:613861
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Trisomy 4P
Hypospadias, Cryptorchidism, Camptodactyly of finger ORPHA:1738
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Cryptorchidism ORPHA:2958
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Amen... ORPHA:2795
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Camptodactyly of finger, Anterior hypopituitarism, Cryptorchidism, High pal... ORPHA:2863
Meningioma
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Urinary incon... ORPHA:2495
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf... ORPHA:281090
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
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism ORPHA:280195
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:189800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Insulin-Resistance Syndrome Type B
Nephritis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fastin... ORPHA:2298
Denys-Drash Syndrome
Nephropathy, Gonadal dysgenesis, Nephroblastoma, Proteinuria, Male pseudohermaphroditism, Nephrot... ORPHA:220
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Cystic Fibrosis
Decreased body mass index, Absent vas deferens, Failure to thrive, Meconium ileus, Exocrine pancr... ORPHA:586
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Arthritis, Hepat... OMIM:602390
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Meier-Gorlin Syndrome 8
Decreased body weight, Unilateral renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Esophagitis, Cryptorchidism, Abnormality of the kidney, Micropenis ORPHA:495818
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respiratory tract infection, L... ORPHA:444463
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Aplasia/hypoplasia of the uterus,... ORPHA:411709
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, High palate, Furrowed tongue, Cryptorchidism ORPHA:1387
Burkitt Lymphoma
Abnormality of the ovary, Intestinal obstruction ORPHA:543
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Cryptorchidism, Cleft palate ORPHA:2215
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Prieto Syndrome
Inguinal hernia, Cryptorchidism OMIM:309610
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... OMIM:119500
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Failure to thrive OMIM:604317
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism OMIM:300982
Li-Campeau Syndrome
Micropenis, Patent ductus arteriosus, Hypothyroidism, Cryptorchidism OMIM:619189
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism ORPHA:96184
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
14Q22Q23 Microdeletion Syndrome
Small scrotum, Renal hypoplasia, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasi... ORPHA:264200
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Hypoplastic male external genitalia, Cryptorchidism OMIM:618823
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Nephrocalcinosis, Insulin-resistant diabete... ORPHA:769
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Breast hypoplasia, Cryptorchidism, Shawl scrotum, Cleft palate OMIM:601353
48,Xxyy Syndrome
Abnormal dental enamel morphology, Decreased testicular size, Azoospermia, Tall stature, Type II ... ORPHA:10
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate ORPHA:1580
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Cryptorchidism, Proteinuria, Nephrotic syndrome ORPHA:1192
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Non-Syndromic Posterior Hypospadias
Small for gestational age, Urethral diverticulum, Bifid scrotum, Androgen insufficiency, Cryptorc... ORPHA:95706
Distal Duplication 15Q
Camptodactyly of finger, Abnormal female external genitalia morphology, Tall stature, Cryptorchid... ORPHA:1707
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Fetal Akinesia Deformation Sequence 2
High palate, Flexion contracture, Cryptorchidism, Cleft palate OMIM:618388
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Proximal renal tubular acidosis, Nephrocalcinosis, Uterus didelphys, Sept... OMIM:146255
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Lead Poisoning
Chronic kidney disease, Decreased male libido, Imbalanced hemoglobin synthesis, Abnormality of th... ORPHA:330015
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron... OMIM:615996
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Mckusick-Kaufman Syndrome
Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Agangli... OMIM:236700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Ichthyosis, X-Linked
Hypohidrosis, Cryptorchidism, Testicular neoplasm OMIM:308100
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261102
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Abdominal obesity, Micr... OMIM:300354
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Flexion contracture, Hypospadias, Cryptorchidism OMIM:618815
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Anteriorly placed anus, Decreased serum testosterone concentration, Absent scrotum, ... ORPHA:495875
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Ollier Disease
Precocious puberty ORPHA:296
Robinow Syndrome
Webbed penis, Small scrotum, Multicystic kidney dysplasia, Umbilical hernia, Decreased serum test... ORPHA:97360
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... ORPHA:528
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Polycystic ovaries, Pancreatitis, Diabetes mellitus, Lipoatrophy ORPHA:79084
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Lymphopen... OMIM:617575
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Hypopl... ORPHA:3409
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty ORPHA:293181
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypercalciuria, Adrenal hy... OMIM:614732
Acrocallosal Syndrome
Tall stature, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Hypospadias ORPHA:36
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism, Inguinal hernia OMIM:613970
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Cleft palate, Camptodactyly, Testic... ORPHA:3063
Cornelia De Lange Syndrome 5
Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity, Micropenis, High palate... OMIM:300882
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Proximal Xq28 Duplication Syndrome
Hernia of the abdominal wall, Hypospadias, Cryptorchidism ORPHA:1762
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... OMIM:615830
Lig4 Syndrome
Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Type II diabetes mellitus, Cryptorchidi... OMIM:606593
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Hyperinsulinemia, Retrograde ejaculation, Nocturia, Anemia, Rhin... ORPHA:230
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hyperg... ORPHA:2183
Birk-Aharoni Syndrome
Micropenis, Cryptorchidism, Failure to thrive OMIM:620071
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Abnormality of connective tissue, Multiple joint contractures, ... ORPHA:370968
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly, Secondary amenorrhea OMIM:613313
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcuta... OMIM:604367
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Cryptorchidism, Umbilical hernia OMIM:273390
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Anal atresia, Hypospadias, Cryptorchidism ORPHA:1381
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism, Omphalocele,... ORPHA:1756
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Type II diabetes mellitus, Polycystic ovarie... ORPHA:100
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... OMIM:136680
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Cleft ... OMIM:613885
Smith-Lemli-Opitz Syndrome
Small scrotum, Recurrent otitis media, Cryptorchidism, Hepatic steatosis, Cirrhosis, Hepatomegaly... OMIM:270400
Chromosome 1P35 Deletion Syndrome
Congenital hypothyroidism, Cryptorchidism, High palate OMIM:617930
Whim Syndrome 1
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia OMIM:193670
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Crypt... OMIM:618454
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, Multiple joint contractures, Delayed puberty, High palate, Overweight ORPHA:486815
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism ORPHA:589905
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased response to growth hormone stimulation te... ORPHA:226307
Camptobrachydactyly
Septate vagina, Camptodactyly of finger ORPHA:1319
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur... ORPHA:1501
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Treacher-Collins Syndrome
Small scrotum, Failure to thrive, Cryptorchidism, Glossoptosis, Hypoplasia of the thymus, Abnorma... ORPHA:861
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... ORPHA:64743
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein ... OMIM:620356
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Microcephaly 27, Primary, Autosomal Dominant
Micropenis, Cryptorchidism OMIM:619180
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor... ORPHA:2473
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary amenorrhea, Micropenis, C... OMIM:147950
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Alkuraya-Kucinskas Syndrome
Micropenis, Small scrotum, High palate OMIM:617822
Microphthalmia, Syndromic 6
Small scrotum, Abnormality of the hypothalamus-pituitary axis, Renal hypoplasia, Bifid uvula, Fai... OMIM:607932
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
Branchial Arch Syndrome, X-Linked
High, narrow palate, High palate, Cryptorchidism OMIM:301950
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Fused labia minora, Camptodactyly, Vaginal atresia, Flexion contracture OMIM:207410
Spermatogenic Failure 17
Male infertility OMIM:617214
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... OMIM:268020
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Cryptorchidism, Camptodactyly, Micropenis, F... OMIM:615547
X-Linked Intellectual Disability, Seemanova Type
Hypogonadism, High palate, Small for gestational age, Cryptorchidism ORPHA:85323
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Cushing Disease
Acne, Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urina... ORPHA:96253
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, P... ORPHA:79085
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, High palate, Flexion contracture, Cryptorchidism ORPHA:178148
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Omodysplasia 2
Uterus didelphys, Recurrent otitis media, Cryptorchidism, Cleft palate, Dyspareunia, Labial hypop... OMIM:164745
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,... OMIM:614963
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Hypospadias, Cryptorchidism OMIM:300997
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Ectopic kidney,... ORPHA:2578
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu... ORPHA:435651
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Weaver Syndrome
Camptodactyly of finger, Tall stature, Inguinal hernia, Cryptorchidism, Hypoplasia of penis ORPHA:3447
Freeman-Sheldon Syndrome
Hernia, Cryptorchidism, Failure to thrive, Camptodactyly of finger ORPHA:2053
Congenital Myopathy 19
Hydronephrosis, High palate, Congenital contracture, Cryptorchidism OMIM:618578
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty OMIM:300958
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypogonadism, Hypopituitarism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Arthrogryposis multiplex congenita, Cryptorchidism OMIM:611890
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Mirage Syndrome
Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Decreased testicular size... OMIM:617053
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity, Cryptorchidism OMIM:615633
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,... OMIM:150550
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Abnormal morphology of female internal genitalia ORPHA:2141
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Cryptorchidism, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, J... OMIM:615381
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... ORPHA:100026
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Chung-Jansen Syndrome
Obesity, Cryptorchidism, High palate OMIM:617991
Morm Syndrome
Micropenis, Truncal obesity ORPHA:75858
Pierpont Syndrome
Abnormal subcutaneous fat tissue distribution, Small for gestational age, Cryptorchidism ORPHA:487825
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Intellectual Developmental Disorder, Autosomal Recessive 44
Bifid uvula, Shawl scrotum OMIM:615942
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism, Omphalocele ORPHA:1263
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormalit... ORPHA:813
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:610329
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Diencephalic Syndrome
Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Abnormality of the hypothalamus-pitui... ORPHA:1672
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Elevated circulating aspartate... OMIM:616433
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Flexion contracture of finger, Flexion contracture, Arthrogryposis multiplex cong... OMIM:618484
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Renal hypoplasia, Hypogonadism, Decreased testicular size, Obesity, Vesicoureteral... OMIM:309580
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Duplication Of Urethra
Urinary incontinence, Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Anuria, Dysuria, Rec... ORPHA:237
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, High palate OMIM:615433
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism, Hyperhidrosis, Lipoatrophy, Shagreen patch ORPHA:2617
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, High palate, Cryptorchidism, Camptodactyly of finger ORPHA:85279
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, De... ORPHA:3138
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Intellectual Developmental Disorder, X-Linked 12
Microphallus, Cryptorchidism, Truncal obesity, Increased body mass index, Small for gestational age OMIM:300957
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Small for gestational age, Failure to thrive, Decreased response to gr... OMIM:609757
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:2772
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hydroureter, Failure to thrive, Ureteral stenosis, Splenopancreatic f... OMIM:269150
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism OMIM:619908
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Recessive X-Linked Ichthyosis
Hypohidrosis, Cryptorchidism ORPHA:461
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell a... OMIM:618165
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Small scrotum, Hypoplastic labia majora, Hypoplastic labia minora, Bifid scrotum ORPHA:324540
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Tall stature, Cryptorchidism, Hydronephrosis, M... ORPHA:1926
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cryptorchidism OMIM:620135
Ruvalcaba Syndrome
Inguinal hernia, Delayed puberty, Cryptorchidism OMIM:180870
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Micropenis, Perianal abscess, Cryptorchidism OMIM:614684
Rin2 Syndrome
Umbilical hernia, Cryptorchidism, Premature ovarian insufficiency, High palate, Hypergonadotropic... ORPHA:217335
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Umbilical hernia, Cryptorchidism, Inguinal hernia, Decreased body ... OMIM:600325
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Cryptorchidism, Hypospadias, Diabetes mellitus OMIM:614613
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal defect, Thrombocytopenia,... ORPHA:101028
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism OMIM:616910
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Congenital diaphragmatic hernia, Cryptorchidism, Multiple renal cysts, Cle... ORPHA:1166
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Failure to thrive OMIM:600118
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hepatomegaly, Lymphadenopa... ORPHA:858
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Umbilical hernia, Joint contracture of the... ORPHA:352490
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Abnormal renal morphology, High palate, Primary gonadal insuffici... ORPHA:99329
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... ORPHA:556
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
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
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypercalciuria, Gl... ORPHA:251274
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Abnormal mesentery morphology, Cryptorchidism, Shawl scrotum, Hypoplasia of penis ORPHA:2256
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Male hypogonadism, Cholelithiasis, Intestinal pseudo-obstructio... ORPHA:273
Clark-Baraitser syndrome
Tall stature, Macroorchidism, Obesity, Exaggerated median tongue furrow OMIM:300602
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Umbilical hernia, Obesity, Cryptorchidism, Micropenis, Hypospadias, Patent duct... ORPHA:171839
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Polycystic ovaries, Tubulo... ORPHA:79259
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... OMIM:278000
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Hypogonadotropic hypogon... OMIM:600955
Pierpont Syndrome
Micropenis, Cryptorchidism, Failure to thrive, Decreased body weight OMIM:602342
Neurofibromatosis-Noonan Syndrome
Cryptorchidism ORPHA:638
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism, Decreased body weight OMIM:272440
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism ORPHA:447980
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... OMIM:616576
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... OMIM:140000
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High pala... ORPHA:284180
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepatomegaly,... ORPHA:108
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Obesity, Wrist flexion contracture, High palate, Macroorchidism, Flexion contr... OMIM:300055
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,... OMIM:615866
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He... ORPHA:2035
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Large for gestational age, Tall stature, Overgrowth ORPHA:137634
Carpenter Syndrome
Umbilical hernia, External genital hypoplasia, Obesity, Cryptorchidism, Abnormal reproductive sys... ORPHA:65759
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Cryptorchidism OMIM:618577
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Plantar flexion contracture, Contracture of the proximal interp... ORPHA:2872
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Anterior hypopituitarism, Microphallus, Abdominal obesity ORPHA:631
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Distal Duplication 18Q
Camptodactyly of finger, Abnormal female external genitalia morphology, Cryptorchidism, High pala... ORPHA:1716
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas ORPHA:145
Cednik Syndrome
Hypogonadism, Nephrotic syndrome, Proteinuria ORPHA:66631
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus, Cryptorchidism OMIM:619797
Camptobrachydactyly
Urinary incontinence, Septate vagina, Congenital finger flexion contractures OMIM:114150
Fg Syndrome 3
Cryptorchidism, Joint contracture, Pyloric stenosis OMIM:300406
Rahman Syndrome
Camptodactyly, Cryptorchidism OMIM:617537
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum ORPHA:93328
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Micropenis, Hig... ORPHA:457240
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Abruzzo-Erickson Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Coronal hypospadias ORPHA:921
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infections OMIM:618116
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Failure to thrive OMIM:618958
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate OMIM:601349
15Q24 Microdeletion Syndrome
Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test, Obesity, ... ORPHA:94065
Distal Monosomy 7Q36
Hernia, Hypoplasia of penis, Cryptorchidism, Cleft palate ORPHA:1636
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Streak ovary, Cryptorc... OMIM:618820
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Anal ... ORPHA:322
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Megaloblas... OMIM:222300
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Villous atrophy, Sp... OMIM:616050
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... OMIM:613390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Micropenis, Macroglossia, Flexion contracture, Cryptorchidism OMIM:613156
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Ureteral duplication, Hypospadias, Patent... OMIM:617516
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased testicular size, C... ORPHA:293967
Leopard Syndrome 1
Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of ... OMIM:151100
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypog... ORPHA:300373
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism, Cleft palate OMIM:101805
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoi... OMIM:603909
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anal stenosis, Omphalocele, Anteriorly placed anus OMIM:248450
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia OMIM:616744
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Cryptorchidism, Cleft palate OMIM:615502
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Joint contracture OMIM:615419
Cortical Dysplasia, Complex, With Other Brain Malformations 12
High palate, Femoral hernia, Cryptorchidism OMIM:620316
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, ... ORPHA:3032
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Ureterocele, Cryptorchidism, Hypospadias, Cleft palate OMIM:616734
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... OMIM:617805
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cryptorchidism, Hypergonadotropic h... ORPHA:250999
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Renal insufficie... ORPHA:96179
Deleted in azoospermia
Azoospermia OMIM:400003
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Fraser Syndrome 3
Small scrotum, Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Ascites, H... OMIM:617667
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal her... OMIM:601186
Apert Syndrome
Bifid uvula, Cryptorchidism, Hydronephrosis, Ectopic anus, Esophageal atresia, Hyperhidrosis, Vag... OMIM:101200
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:618504
Luscan-Lumish Syndrome
Irregular menstruation, Overgrowth, Obesity, Polycystic ovaries OMIM:616831
Allan-Herndon-Dudley Syndrome
Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Crypt... ORPHA:59
Oculocerebrocutaneous Syndrome
Cryptorchidism, Cleft palate OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Failure to thrive OMIM:617788
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Hypospadias, Cryptorchidism ORPHA:254346
Silver-Russell Syndrome 3
Small for gestational age, Elbow contracture, Decreased body weight, Ambiguous genitalia, Penoscr... OMIM:616489
Seckel Syndrome 5
Clitoral hypertrophy, Cryptorchidism, Enamel hypoplasia, High palate, Hypospadias, Cleft palate OMIM:613823
Chromosome 16Q22 Deletion Syndrome
Failure to thrive, Cryptorchidism, High palate, Hypospadias, Small for gestational age OMIM:614541
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Unilateral renal hypoplasia, Cryptorchidism, Nephroblastoma... ORPHA:2874
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Immunodeficiency 92
Pneumonia, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymphocytosis, Decr... OMIM:619652
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Type II diabetes m... ORPHA:110
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of penis, Bifid scrotum ORPHA:1295
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Diabetes mellitus, Cryptorchidism OMIM:249270
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Intellectual Developmental Disorder, Autosomal Dominant 47
Small for gestational age, Cryptorchidism, Supernumerary nipple OMIM:617635
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Failure to thrive, Decreased testicular size, Cryptorchidism, 3-Methyl... OMIM:610198
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Dysmenorrhea, Polycystic ov... ORPHA:79083
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Cryptorchidism, Aganglionic megacolon, Ambiguous genitalia, Hy... ORPHA:452
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Congenital Primary Megaureter
Abnormal penis morphology, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Congenital meg... ORPHA:617
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Joubert Syndrome 37
Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Micropenis, High palate OMIM:619185
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Cleft soft palate, Hypoplasi... OMIM:619321
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Neutropenia, Arthritis, Anemia... OMIM:604250
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Decreased testicular size, External genital hypoplasia, Reduced subcutaneous adipos... ORPHA:3041
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
8Q22.1 Microdeletion Syndrome
Hypogonadism, Cryptorchidism, Submucous cleft hard palate, Camptodactyly of finger ORPHA:178303
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Umbilical hernia, Inguinal hernia, Bilateral cryptorchidism OMIM:613544
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hemop... OMIM:619644
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... OMIM:243150
Isolated Agammaglobulinemia
Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Abnormality of the l... ORPHA:229717
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Congenital diaphragmatic... OMIM:300978
Clcn4-Related X-Linked Intellectual Disability Syndrome
Inguinal hernia, Cryptorchidism ORPHA:485350
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, Duodenal stenos... ORPHA:2470
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Congenital diaphragmatic hernia, Urethral atre... OMIM:273395
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Cryptorchidism, Hydronephrosis, Urethral valve, Enuresis OMIM:236730
Noonan Syndrome 12
Anteriorly placed anus, Decreased response to growth hormone stimulation test, Lymphopenia, Tetra... OMIM:618624
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonadism, Spherocyt... ORPHA:251066
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
German Syndrome
Camptodactyly of finger, Cryptorchidism, Ambiguous genitalia, High palate, Arthrogryposis multipl... ORPHA:2077
Qazi-Markouizos Syndrome
High, narrow palate, Cryptorchidism ORPHA:3010
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Failure to thrive, Horseshoe kidney, Cryptorchidism, High palate, Hypoplastic male external genit... ORPHA:502434
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Leukopenia, Pancytopenia, Abnormal macro... ORPHA:507
Fraser Syndrome
Small scrotum, Anal stenosis, Abnormality of the urinary system, Abnormal vagina morphology, Fema... ORPHA:2052
Slc35A2-Cdg
Precocious puberty, Abnormal renal morphology, Transient nephrotic syndrome, Elevated circulating... ORPHA:356961
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Glomerulopathy, Pancreatitis, ... ORPHA:2348
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno... OMIM:603554
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism, Inguinal hernia ORPHA:85322
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, O... OMIM:309801
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobi... OMIM:612561
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohypoparathyroidism, Abnor... ORPHA:464288
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Failure to thrive, Decreased circulating T4 concentration, Cryptorchi... OMIM:608104
Nicolaides-Baraitser Syndrome
High, narrow palate, Hernia, Cryptorchidism, Abnormal testis morphology ORPHA:3051
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Male infertility, Horseshoe kidney, Pancytopenia, C... OMIM:227650
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen... OMIM:300219
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
King-Denborough Syndrome
High palate, Cryptorchidism, Failure to thrive, Bilateral cryptorchidism OMIM:619542
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Furrowed tongue, O... OMIM:615109
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Furrowed tongue, Ovarian cyst,... OMIM:615108
Immunodeficiency 46
Anemia, Recurrent sinopulmonary infections, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... OMIM:613987
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Hypohidrosis, Tracheoesophageal fistula, Maternal diabetes, Anterior pit... ORPHA:3157
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Cryptorchidism, Hypospadias, Patent ductus arteriosus, Pyloric stenosis OMIM:218350
Non-Distal Duplication 13Q
Hernia, High palate, Cryptorchidism ORPHA:1702
Orofaciodigital Syndrome Type 4
High, narrow palate, Bifid uvula, Failure to thrive, Camptodactyly of finger, Decreased testicula... ORPHA:2753
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Anal stenosis, Malrotation of ... OMIM:606170
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
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
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Seborrheic dermatitis, Ovarian serous cystad... ORPHA:276280
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Decreased proportion of CD8-positive T cells, Lymph... ORPHA:169154
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Cryptorchidism, Cleft palate ORPHA:1252
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Beckwith-Wiedemann Syndrome
Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenoc... OMIM:130650
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Splenomegaly, R... ORPHA:47612
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Failure to thrive ORPHA:88639
Young Syndrome
Azoospermia, Bronchiectasis OMIM:279000
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Cryptorchidism, Hypospadias, Patent ductus arteriosus, Diabetes mellitus ORPHA:500159
Trisomy 13
High, narrow palate, Abnormal morphology of female internal genitalia, Abnormality of the ureter,... ORPHA:3378
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly, Recurrent lower ... OMIM:620603
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Failure to thrive, Elbow con... OMIM:617201
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Inguinal hernia, Maternal diabetes, Polycystic kidney dysplasia, Clef... ORPHA:1988
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... OMIM:615926
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Penile freckling, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyp... ORPHA:210548
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Bifid scrotum, Pancytopenia, Renal insufficiency, Cryptorchidism, Hypothyroidis... ORPHA:85321
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemi... OMIM:209950
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Hepatomegaly, Atria... ORPHA:290
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Gapo Syndrome
Hypogonadism, Nephrolithiasis, Dysmenorrhea, Amenorrhea, Oligozoospermia ORPHA:2067
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Small for gestational age, Failure to thrive, Recurrent urinary tract infections, ... OMIM:613658
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, External genital hypoplasia, Cryptorchidism ORPHA:1867
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:228402
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... OMIM:112200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... ORPHA:238459
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Ectopic kidney, Cryptorchidism ORPHA:401935
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Cryptorchidism, High palate, Hypospadias, Flexion contracture ORPHA:98791
Schuurs-Hoeijmakers Syndrome
Volvulus, Patent ductus arteriosus, Cryptorchidism OMIM:615009
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Cryptorchidism, Knee flexion contracture, Camptodactyly, Sacral lipoma... ORPHA:435938
Preeclampsia
Chronic kidney disease, Type I diabetes mellitus, Acute kidney injury, Renal insufficiency, Polyc... ORPHA:275555
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Enuresis, Grade III vesicoureteral reflux, Ureteropelvic junctio... OMIM:619522
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hermansky-Pudlak Syndrome 6
Recurrent urinary tract infections, Perineal fistula, Endometriosis, Neurogenic bladder, Absent p... OMIM:614075
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Eczematoid dermatitis, Bilateral cryptorchidism, Decreased response to growth hormone stimulation... OMIM:618336
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T ... ORPHA:911
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Cryptorchidism, Hypothyroidism, Delayed puberty, Small for gestational age OMIM:616817
Atelis Syndrome 1
Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia, High palat... OMIM:620184
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased testicular size, Hypogonadotropic hypogonadism, Primary amen... OMIM:604168
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Cryptorchidism, Hydronephrosis, Camptodactyly, Patent ductus arter... OMIM:179613
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Renal insufficiency, Cryptorchidism, Proteinuria, Chordee, Hypothyro... OMIM:300519
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate... ORPHA:398124
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism, Hepatomegaly, Conjunctivitis, Uveitis ORPHA:90322
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Pleuritis, Pericarditis OMIM:152700
Autosomal Recessive Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Camptodactyly of finger, Abnormality of the ure... ORPHA:2311
Prune Belly Syndrome
Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Anal atresia, Patent ductus arteriosus, ... OMIM:100100
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Obesity, Overfriendliness, Shawl scrotum, Micropenis OMIM:620439
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Arthrogryposis, Distal, Type 1A
Joint contracture of the hand, Elbow flexion contracture, Cryptorchidism, Knee flexion contractur... OMIM:108120
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Fontaine Progeroid Syndrome
High, narrow palate, Small scrotum, Absent nipple, Failure to thrive, Anteriorly placed anus, Cry... OMIM:612289
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Atrophic scars, Cryptorchidism, Lipodystrophy, Testicular torsion, Fle... ORPHA:75496
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Cryptorchidism ORPHA:314389
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Chronic rhinitis, Hypothyroidism, Bronchiectasis OMIM:617577
Ganglioneuroma
Abnormal rectum morphology, Hamartomatous polyposis, Abnormality of the adrenal glands, Abnormal ... ORPHA:251992
Myopathy, Centronuclear, X-Linked
Birth length greater than 97th percentile, Cryptorchidism, High palate, Flexion contracture, Pylo... OMIM:310400
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Narrow palate, Nephrocalcinosis, Abnormality o... ORPHA:79500
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Leprechaunism
Megarectum, Clitoral hypertrophy, Long penis, Central hypothyroidism, Nephrocalcinosis, Failure t... ORPHA:508
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism ORPHA:2701
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Limb joint contracture, High palate, Hypospadias, Cryptorchidism OMIM:300004
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Decreased circulating renin level, Adrenal hyperplasia, Glucocortoco... ORPHA:231580
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Inguinal hernia, Cryptorchidism ORPHA:2856
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Abnormal small intestine morphology, Cryptorchidism, Micr... OMIM:219000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Renal Nutcracker Syndrome
Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, We... ORPHA:71273
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly ORPHA:412035
Malaria
Anemia, Thrombocytopenia ORPHA:673
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Fetal Hydantoin Syndrome
Hernia, Cleft palate, Cryptorchidism, Bifid scrotum ORPHA:1912
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Failure to thrive, Renal agenesis, Horseshoe kidney, ... ORPHA:2538
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia, Pulmonary ... OMIM:620365
Osteoglosphonic Dysplasia
Failure to thrive in infancy, Inguinal hernia, Cryptorchidism ORPHA:2645
Hypoplasminogenemia
Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duodenal ulcer, Ce... ORPHA:722
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulin... ORPHA:64
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Dilated third ventricle, Failure to thrive, Hypogonadism, Cryptorchidism, Micropenis, Flexion con... ORPHA:500055
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Cryptorchidism, Disproportionate tall stature, Abdominal obesity OMIM:301039
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Abnormality of the urinary system, Cryptorchidism, Hydronephrosis, Aplasia/Hy... ORPHA:96092
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly, Lymphadenopathy, ... ORPHA:457077
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Large for gestational age, Cryptorchidism, Pyloric stenosis ORPHA:169189
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Cryptorchidism, 3-Methylglutaconic aciduria ORPHA:496790
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Pyloric stenosis OMIM:188025
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:363528
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hy... OMIM:241410
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, ... OMIM:617159
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Adrenal gland agenesis, Ovotestis, Hypospadias, Cleft ... OMIM:611812
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Senior-Loken Syndrome 9
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr... OMIM:616629
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Cryptorchidism, Proportionate tall stature, P... ORPHA:404443
Verloove Vanhorick-Brubakk Syndrome
Abnormality of the parathyroid gland, Cryptorchidism, Cleft palate ORPHA:3429
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Obesity OMIM:600151
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Smith-Magenis Syndrome
Precocious puberty, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypothyroidism, Delayed ... ORPHA:819
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Cryptorchidism, Inguinal hernia, Paten... OMIM:614857
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Micropenis, Cryptorchidism OMIM:612447
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum, Umbilical hernia ORPHA:1778
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Failure to thrive, Breast hypoplasia, Oligozoospermia, Diabetes mellitus, Small for gestational a... OMIM:614813
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia... OMIM:127550
Diphallia
Penoscrotal transposition, Renal malrotation, Bifid scrotum, Duplicated colon, Horseshoe kidney, ... ORPHA:227
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Cryptorchidism, 3-Methylglutaconic aciduria, Flexion contracture, Hyposp... ORPHA:1194
Macrocephaly/Autism Syndrome
Obesity, Penile freckling, Large for gestational age, Overgrowth, High palate, Hydrocele testis OMIM:605309
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hernia of the abdominal wall, Hypoplasia of penis, Cryptorchidism ORPHA:3082
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eosinophilia, Coombs-... OMIM:304790
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f... ORPHA:887
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Patent ductus arteriosus, Cryptorchidism ORPHA:1338
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Abnormal proportion of CD8-positive T cells, Acute myeloid... ORPHA:125
Chromosome 18P Deletion Syndrome
Gonadal dysgenesis, Decreased testicular size, Cryptorchidism, Micropenis, High palate, Small for... OMIM:146390
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Carpenter Syndrome 1
Precocious puberty, Hydroureter, External genital hypoplasia, Cryptorchidism, Hydronephrosis OMIM:201000
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... OMIM:614527
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero... OMIM:617021
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Increased body weight, Portal fibrosis, Failure to thri... ORPHA:264580
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Colonic diverticula, Goiter, Lymphopenia, Furrowed tongue, Ovarian c... OMIM:158350
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Decreased liver function, Hepatosplenomegaly, Pancytopenia, Hyperspl... ORPHA:98850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Metrorrhagia, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Umbilical hernia, Tall stature, Labial hypertrophy, Hyp... OMIM:608594
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function, Thrombocytopenia ORPHA:67048
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Vesicoureteral reflux, Abnormality of the kidney ORPHA:261652
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchidism, Knee... OMIM:214150
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Renal insufficiency, Abnormal vagina morphology ORPHA:2123
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, High palate, Cleft palate OMIM:615102
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Aniridia-Absent Patella Syndrome
Inguinal hernia, Cryptorchidism ORPHA:1069
Noonan Syndrome 8
Patent ductus arteriosus, Large for gestational age, Cryptorchidism, Failure to thrive OMIM:615355
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Pelvic mass, Ascites, Metrorrhagia... ORPHA:370348
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Cryptorchidism, Inguinal hernia, Camptodactyly o... OMIM:175700
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, High palate, Overweight, Small for gest... OMIM:617796
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Respiratory tra... ORPHA:2686
Hydrolethalus
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Abnormal fallopian tube morphology, Cle... ORPHA:2189
Coffin-Siris Syndrome 2
Inguinal hernia, Cryptorchidism, Macroglossia, High palate, Cleft palate OMIM:614607
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly... ORPHA:331206
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Inguinal hernia, Cache... ORPHA:85293
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Xerostomia, Ureterocele, Hydroureter, Megacystis, Decreased response to growth hor... OMIM:604292
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic nipples, Absent nipple, Cryptorchidism, Male urethral meatus stenosis OMIM:616001
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Unilateral renal agenesis, Elevated circulating parathyroid hormone level... OMIM:101800
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchit... OMIM:249100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Bronchiectasis, Recurrent pne... OMIM:614700
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Ane... OMIM:600901
Smith-Kingsmore Syndrome
Large for gestational age, Cryptorchidism, Umbilical hernia OMIM:616638
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Labial pseudohyper... OMIM:151660
Oeis Complex
Hydroureter, Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitali... OMIM:258040
Bresek Syndrome
Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Aganglionic m... ORPHA:85284
Ring Chromosome 12 Syndrome
High, narrow palate, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hypothyroidism, Sm... ORPHA:1439
Fragile X Syndrome
Macroorchidism ORPHA:908
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Septate vagina, Crossed fused renal ectopia, Vesicoureteral re... OMIM:300707
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis OMIM:619269
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Abnormali... ORPHA:139466
Interstitial Cystitis
Functional abnormality of the bladder, Abnormal vagina morphology, Abnormality of the urethra, Ur... ORPHA:37202
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Chand Syndrome
Imperforate hymen, Hydroureter, Hypohidrosis, Bifid tongue, Cleft palate ORPHA:1401
Kbg Syndrome
Cryptorchidism, Cleft palate ORPHA:2332
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Inguinal hernia, Cryptorchidism, Contracture of the proximal interphalangea... OMIM:618109
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Failure to thrive, Umbilical hernia, Protruding tongue, Cryptorchidism, Patent ductu... OMIM:612938
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Gaucher Disease, Type I
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,... OMIM:230800
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Umbilical hernia, Tall stature, Labial hypertrophy, Hyperinsulinemia, Decre... OMIM:269700
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Low urinary cyclic AMP response to ... OMIM:103580
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Failure to thrive, Proximal renal tubular acidosis OMIM:615824
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Oculoskeletodental Syndrome
Protein-losing enteropathy, Renal agenesis, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopol... OMIM:618440
Aarskog-Scott Syndrome
Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Cryptorchidism, Shawl scrotum, Cleft ... ORPHA:915
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced plate... OMIM:231200
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis, Volvulus ORPHA:335
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Xerostomia, Ureterocele, Hydroureter, Decreased response to growth hormone stimulation test, Tran... OMIM:129900
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Congenital diaphragmatic hernia, Male pseudohermaph... ORPHA:2075
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Unilateral cryptorchidism, High palate OMIM:618862
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Unilateral renal agenesis, Rectovaginal fistula, Renal agenesis OMIM:608980
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormal scrotum morphology, Supernumerary nipple ORPHA:64755
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Palmar hyperhidrosis, Cryptorchidism, Inguinal hernia, Knee flexion co... OMIM:620545
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Congenital Dyserythropoietic Anemia Type Iii
Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... ORPHA:98870
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Anal atresia, Narrow palate ORPHA:2063
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis ORPHA:79087
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... OMIM:612840
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell... OMIM:601820
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, H... OMIM:244300
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Increased circulating ACTH leve... OMIM:607398
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... OMIM:146510
Ochoa Syndrome
Urethral obstruction, Vesicoureteral reflux, Cryptorchidism, Renal insufficiency, Hydronephrosis,... ORPHA:2704
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Abnormal morphology of female internal genitalia ORPHA:1797
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... ORPHA:2588
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Joint contracture of the hand, Failure to thrive, Cryptorchi... OMIM:214110
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Pudendal Neuralgia
Scrotal pain, Dyspareunia, Erectile dysfunction, Dysuria, Pollakisuria ORPHA:60039
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Harrod Syndrome
Multicystic kidney dysplasia, Failure to thrive, Cryptorchidism, High palate, Hypospadias ORPHA:2115
Zellweger Syndrome
Clitoral hypertrophy, Multicystic kidney dysplasia, Failure to thrive, Primary adrenal insufficie... ORPHA:912
Lig4 Syndrome
Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus, Cryptorchidism ORPHA:99812
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genital... OMIM:276820
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Large for gestational age, Hypospadias, Cryptorchidism ORPHA:457485
Bachmann-Bupp Syndrome
Large for gestational age, Cryptorchidism, High palate OMIM:619075
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Failure to thrive, Hypogonadism, Recurr... ORPHA:96170
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Hyperparathyroidism, Glomerulopathy, Renal insufficiency ORPHA:2668
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, High palate ORPHA:139471
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Joint contracture of the hand, Hypogonadism, Decreased testicular size, Cryp... OMIM:612513
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Bilateral cryptorchidism OMIM:618652
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... OMIM:300048
Developmental And Epileptic Encephalopathy 66
Cryptorchidism OMIM:618067
Ruvalcaba Syndrome
Hematuria, Inguinal hernia, Delayed puberty, Cryptorchidism ORPHA:3121
Autosomal Recessive Omodysplasia
Hernia, Cryptorchidism ORPHA:93329
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Oral leuk... OMIM:613989
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Premature adrenarche, Decreased response to growth hormone stimulation test, ... ORPHA:96182
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum ORPHA:1547
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Suleiman-El-Hattab Syndrome
Failure to thrive, Inguinal hernia, Cryptorchidism, Hydronephrosis, High palate OMIM:618950
Orofacial Cleft 15
Inguinal hernia, Cryptorchidism, Bilateral cleft palate OMIM:616788
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Renal tubular acidosis, Splenomegaly, Dysmenorrhea, Pol... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Cryptorchidism OMIM:608093
Microphthalmia, Syndromic 5
Micropenis, Cleft palate, Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias OMIM:619718
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased testicu... ORPHA:90695
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Cryptorchidism, Abnormal tongue morphology ORPHA:531151
Solitary Fibrous Tumor
Uterine neoplasm, Urinary retention, Pelvic mass, Vaginal neoplasm, Prostate cancer, Neoplasm of ... ORPHA:2126
Triploidy
Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Omphalocele, Macroglossia, Hypoplasi... ORPHA:3376
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Cryptorchidism, Multiple joint contractures, Intestinal hypoplasia, Arth... ORPHA:994
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Micropenis, Patent ductus arteri... ORPHA:2519
Hereditary Mucoepithelial Dysplasia
Hematuria, Furrowed tongue, Tracheoesophageal fistula, Abnormal morphology of female internal gen... ORPHA:1839
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Premature thelarche, Hypothyroidism, Myoglobinuria, Premature pubarche OMIM:616878
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Failure to thrive, Cryptorchidism, Decreased body weight, High palate, Flexion contracture OMIM:617452
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Arthrogryposis, Distal, Type 3
Bifid uvula, Camptodactyly of finger, Cryptorchidism, Submucous cleft hard palate, Knee flexion c... OMIM:114300
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism, Patent ductus arteriosus ORPHA:329224
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Intestinal malrotation, Cryptorchidism, Hepatopulmonary fusion, ... OMIM:618280
Acrodysostosis
Abnormal female external genitalia morphology, Cryptorchidism, Irregular menstruation, Hypogonadism ORPHA:950
Caudal Regression Syndrome
Abnormality of the ureter, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Ambiguous ... ORPHA:3027
Baraitser-Winter Syndrome 1
Micropenis, Patent ductus arteriosus, Cryptorchidism, Failure to thrive OMIM:243310
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glycosuria, Hepatic steatosis, Elevated circulati... OMIM:617253
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Small for gestational age, Anal atresia, Cryptorchidism OMIM:613792
Galactosemia I
Aminoaciduria, Galactosuria, Premature ovarian insufficiency, Increased level of galactitol in ur... OMIM:230400
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Shawl scrotum, Di... ORPHA:261265
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism OMIM:616789
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Intest... ORPHA:32960
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Umbilical hernia, Abnormality of the ureter, Polycystic ovaries, Cleft palate ORPHA:1770
Laron Syndrome
Abnormality of the endocrine system, Hypohidrosis, Delayed puberty, Truncal obesity, Hypoplasia o... ORPHA:633
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the neck, Increased fac... ORPHA:280365
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
X-Linked Intellectual Disability, Cantagrel Type
Shawl scrotum ORPHA:85277
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, Abnormal macro... ORPHA:292
Hatipoglu Immunodeficiency Syndrome
Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Pancytopenia... OMIM:620331
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... OMIM:612541
Diastrophic Dysplasia
Cryptorchidism, Cleft palate, Camptodactyly of finger ORPHA:628
Radio-Tartaglia Syndrome
Precocious puberty OMIM:619312
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Patent ductus arteriosus, Vesicoureteral reflux, Hypospadias, Cryptorchidism OMIM:618659
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Oral leukoplakia, Ascites, Leukocytosis, Splenomegaly,... ORPHA:342
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadis... ORPHA:2326
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Trisomy 18P
High, narrow palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:1715
19Q13.11 Microdeletion Syndrome
Failure to thrive, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Cachexia, Hypospadias ORPHA:217346
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Cog4-Cdg
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... ORPHA:263501
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Hypospadias, Cryptorchidism, Cleft palate OMIM:603736
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Lesch-Nyhan Syndrome
Nephrocalcinosis, Podagra, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicular atr... OMIM:300322
Noonan Syndrome 5
Large for gestational age, Cryptorchidism OMIM:611553
Meacham Syndrome
Aplasia of the right hemidiaphragm, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism,... OMIM:608978
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hepatosplenomegaly, Hypothyroidism, Reticulocyt... ORPHA:300298
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent forame... OMIM:620642
Scarf Syndrome
Bifid scrotum, Umbilical hernia, Cryptorchidism, Inguinal hernia, Hypoplastic nipples, Enamel hyp... ORPHA:3134
Toluene Embryopathy
Hydronephrosis, Cryptorchidism ORPHA:1920
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Inguinal hernia, Aplasia of the vagina, Hydronephrosis, Aplasia of the... OMIM:271520
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Failure to thrive, Microphallus, Decrea... OMIM:603467
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Patent ductus arteriosus, Cryptorchidism, High palate ORPHA:3304
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:99413
Noonan Syndrome 9
Hydroureter, Cryptorchidism OMIM:616559
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:881
Micro Syndrome
Cryptorchidism, Hydronephrosis, Delayed puberty, High palate, Hypoplasia of penis, Hypoplastic la... ORPHA:2510
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Protrudin... ORPHA:96147
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Acromelic Frontonasal Dysplasia
Hypopituitarism, Median cleft palate, Midline central nervous system lipomas, Cryptorchidism, Ant... ORPHA:1827
Macs Syndrome
Recurrent aphthous stomatitis, Cryptorchidism, Decreased body weight, High palate, Bronchiectasis... OMIM:613075
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71526
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Hypoplasia of the bladder, Villous atrophy, Hepatic cysts, Abno... ORPHA:79328
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Ambiguous genitalia, Bifid tongue, ... OMIM:613091
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella OMIM:620197
Buratti-Harel Syndrome
Bifid uvula, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, High pala... OMIM:619314
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Horseshoe kidney, Aplasia of the epiglottis, Vaginal atresia, Patent ductus art... OMIM:617088
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Obesity, Proteinuria, Pancreatitis, Micropenis OMIM:619471
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumula... OMIM:618042
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Abnormal erythrocyte morphology,... ORPHA:2575
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight, Horseshoe kidney OMIM:300860
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate ORPHA:85212
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Cryptorchidism, Hydronephrosis, Micropenis, Narrow palate ORPHA:364028
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submucous cleft hard pala... ORPHA:2250
Distal Triplication 15Q
Horseshoe kidney, Birth length greater than 97th percentile, Large for gestational age, Hydroneph... ORPHA:314588
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Small for gestational age, Cryptorchidism OMIM:619847
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Intestinal pseudo-obstruction ORPHA:73246
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Horseshoe kidney, Panc... OMIM:227645
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity, Crypt... ORPHA:439822
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Umbilical hernia, Inguinal hernia, Cryptorchidism, Hypospadias OMIM:601499
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Noonan Syndrome 6
Cryptorchidism OMIM:613224
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Cryptorchidism, Enamel hypoplasia, Labial hypoplasia, Flexion contracture, Enuresis,... OMIM:619293
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Inguinal hernia, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary... OMIM:603457
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Dysphagia, Thrombocytop... ORPHA:169105
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Failure to thrive, Cryptorchidism, Decreased body weight, Limb joint contracture, High palate ORPHA:505237
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Bloom Syndrome
Small for gestational age, Azoospermia, Malar rash, Type II diabetes mellitus, Cryptorchidism, He... OMIM:210900
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Limb joint contracture, Patent ductus arteriosus, Cryptorchidism OMIM:620327
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Hypospadias, Cryptorchidism, Bifid scrotum OMIM:606851
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Bilateral cryptorchidism, Failure to thrive in infancy, Elbo... OMIM:618156
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Failure to thrive, Anteriorly placed anus, Exocrine pancreatic insuff... ORPHA:2315
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries ORPHA:371428
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of penis, Hypospadias, ... ORPHA:77298
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchidism ORPHA:96191
Prolidase Deficiency
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Splenomegaly,... OMIM:170100
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Failure to thrive, High, narrow palate, Bi... ORPHA:485405
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum, Omphalocele OMIM:190440
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Immunoglobulin A Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Orchitis, Hematuria, Proteinuria, Pustule, Infectio... ORPHA:761
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Anteriorly placed anus, Recurre... OMIM:618494
Seckel Syndrome 1
Clitoral hypertrophy, Elbow flexion contracture, Cryptorchidism, Enamel hypoplasia, High palate, ... OMIM:210600
Currarino Syndrome
Anal stenosis, Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Anal fistula, Perianal ab... OMIM:176450
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Interhypothalamic adhesion, Cryptorchidism, Micropenis, High palate OMIM:618929
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... ORPHA:98849
Marden-Walker Syndrome
High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Cry... OMIM:248700
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
High palate, Dilated third ventricle, Cryptorchidism OMIM:619244
Trisomy 8Q
Camptodactyly of finger, Cryptorchidism, Displacement of the urethral meatus, High palate, Bifid ... ORPHA:1752
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Pancreatic cysts, Neoplasm of the pancreas, Elevated ur... ORPHA:892
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pheochromocytoma, Neoplasm of the pancreas, Multiple renal cysts, Epididymal cy... OMIM:193300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Cryptorchidism, Omphalocele, Hypospadias, Patent ductus arteriosus OMIM:618316
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
C Syndrome
Clitoral hypertrophy, Failure to thrive, Renal cortical cysts, Cryptorchidism, Omphalocele, High ... OMIM:211750
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Abnormality of the lymphatic system, Abnormality of the tonsils, ... ORPHA:47
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Intestinal malrotation, Cryptorch... OMIM:609029
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Umbilical hernia, Cryptorchidism, Camptodactyly, Macroglossia, ... ORPHA:369891
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cryptorchidism, Failure to thrive, Umbilical hernia OMIM:219150
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Renal insufficiency, Cryptorchidism, Proteinuria, High palate, Cl... ORPHA:1307
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Median cleft palate, Cryptorchidism, Adrenal hypoplasia, Omphalocele, Micropeni... OMIM:264480
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, Ventricular septal defect ORPHA:49827
Kleefstra Syndrome 1
Obesity, Cryptorchidism, Protruding tongue, Micropenis, Macroglossia, Hypospadias OMIM:610253
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Abnormal dental enamel morphology, Cryptorchidism, Inguinal hernia, Hypothy... ORPHA:1812
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Inguinal hernia, Cryptorchidism, Renal cyst, Abnormality of the endocrine system ORPHA:166035
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... OMIM:617100
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Bifid scrotum, Reduced subcutaneous adipose tissue, Cryptorchidism, Inguinal h... OMIM:613026
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Glue ear, Oligozoospermia, Jaundice, High palate, Renal dyspl... ORPHA:3310
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Cystic Echinococcosis
Abnormality of the testis size, Ovarian cyst, Renal cyst, Weight loss, Membranous nephropathy ORPHA:400
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:615485
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Cryptorchidism, Intestinal obstruction, Congenital hypoparathy... ORPHA:2323
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Limb-Mammary Syndrome
Bifid uvula, Absent nipple, Breast aplasia, Psoriasiform dermatitis, Aplasia of the ovary, Submuc... ORPHA:69085
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism ORPHA:163654
Chromosome 14Q11-Q22 Deletion Syndrome
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, ... OMIM:613457
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Supernumerary nipple, Camptodactyly of finger, Vesicoureteral reflux, ... OMIM:619951
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Leukemia, Renal agen... OMIM:227646
Fryns Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Vesicoureteral reflux, Cryptorchidism, Cong... ORPHA:2059
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Failure to thrive, Decreased testicular size, Furrowed tongue, Cryptorchidism, De... OMIM:300534
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Wagro Syndrome
Proteinuria, Decreased testicular size, Hypoplastic female external genitalia, Obesity OMIM:612469
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Dyssegmental Dysplasia, Silverman-Handmaker Type
Overgrowth, Cryptorchidism OMIM:224410
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Abnormal pericardium morphology, Leukocy... ORPHA:67
Cockayne Syndrome Type 1
Male hypogonadism, Failure to thrive, Renal insufficiency, Cryptorchidism, Proteinuria, Anemia, H... ORPHA:90321
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, Protruding tongue, Camptodactyly... OMIM:300963
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Meier-Gorlin Syndrome 6
Failure to thrive, Umbilical hernia, Decreased response to growth hormone stimulation test, Crypt... OMIM:616835
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
Adams-Oliver Syndrome 1
Imperforate hymen, Cleft palate, Supernumerary nipple OMIM:100300
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Inguinal hernia, Hypothyroidism, Tru... OMIM:616541
Chronic Mucocutaneous Candidiasis
Hepatitis, Abnormal vagina morphology, Recurrent urinary tract infections, Skin rash, Hematuria, ... ORPHA:1334
Craniopharyngioma
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Central ad... ORPHA:54595
Meier-Gorlin Syndrome 4
Breast hypoplasia, Cryptorchidism, Failure to thrive OMIM:613804
Currarino Syndrome
Bifid scrotum, Vesicoureteral reflux, Abnormal intestine morphology, Male pseudohermaphroditism, ... ORPHA:1552
Craniofrontonasal Dysplasia
High palate, Hypospadias, Shawl scrotum ORPHA:1520
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hypospadias, Cryptorchidism ORPHA:494344
Ciliary Dyskinesia, Primary, 40
Azoospermia, Chronic sinusitis, Chronic rhinitis, Infertility, Absent outer dynein arms OMIM:618300
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Martsolf Syndrome 1
Inguinal hernia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, High palate OMIM:212720
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
8P23.1 Microdeletion Syndrome
Obesity, Cryptorchidism, Congenital diaphragmatic hernia, Weight loss, High palate, Hypospadias, ... ORPHA:251071
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplen... ORPHA:77259
Cri-Du-Chat Syndrome
Bifid uvula, Cryptorchidism, Inguinal hernia, High palate, Hypospadias, Small for gestational age OMIM:123450
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Proteinuria, Cryptorchidism OMIM:616682
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
High palate, Hypospadias, Cryptorchidism, Decreased body weight OMIM:300260
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Omphalocele, Bifid uterus, Cleft palate ORPHA:2736
Behçet Disease
Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, Orchitis, Increased inflammator... ORPHA:117
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Camptodactyly of finger, Horses... ORPHA:99776
Tuberous Sclerosis 1
Precocious puberty, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Renal cell carcinoma, Adeno... OMIM:191100
Stuve-Wiedemann Syndrome 2
Dysphagia, Thrombocytopenia OMIM:619751
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Intestinal malrotation, Cryptorchidism, Hydronephrosis, Patent ductus arteriosus, Cleft palate ORPHA:457193
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Shoulder flexion contracture, Failure to thrive, Elbow flexion con... OMIM:193700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Abnormal thalamus morphology, Intestinal malrotation, Cryptorchidism, Cleft palate ORPHA:404440
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Atypical scarring of skin, Umbilical hernia, Atrophic scars, Cryptorchidism, Inguinal... OMIM:618000
Ogden Syndrome
High, narrow palate, Inguinal hernia, Cryptorchidism ORPHA:276432
3Mc Syndrome 3
Bifid scrotum, Horseshoe kidney, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Cleft palate OMIM:248340
Short Syndrome
Insulin-resistant diabetes mellitus, Absence of subcutaneous fat, Reduced subcutaneous adipose ti... OMIM:269880
Acrofacial Dysostosis, Catania Type
Inguinal hernia, Hypospadias, Cryptorchidism ORPHA:1786
Microphthalmia, Syndromic 2
Bifid uvula, Umbilical hernia, Adrenal insufficiency, Septate vagina, Cryptorchidism, Submucous c... OMIM:300166
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Bifid ute... OMIM:236680
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Hamartoma of tongue, Septate vagina, Absent gallbladder, Micropenis, Anal atres... OMIM:617925
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Type II diabetes mellitus, Hypospadias OMIM:210720
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Cryptorchidism, Joint contracture OMIM:602471
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal female external genitalia morphology, Precocious puberty ORPHA:2637
Dowling-Degos Disease
Scrotal hyperpigmentation, Penile freckling, Acne inversa, Arthritis ORPHA:79145
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Developmental And Epileptic Encephalopathy 111
Umbilical hernia, Inguinal hernia, Cryptorchidism, Nephrolithiasis OMIM:620504
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Dysphagia, Patent foramen ovale ORPHA:89844
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Anal atresia, Rectovaginal fist... OMIM:617466
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia, Thrombocytopenia OMIM:615750
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Decreased response to growth hormone stimulation test, Protei... OMIM:618347
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Polycystic ovar... ORPHA:79086
Rubinstein-Taybi Syndrome
Atypical scarring of skin, Keloids, Failure to thrive in infancy, Cryptorchidism, High palate ORPHA:783
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Abnorma... ORPHA:781
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Cleft palate ORPHA:3320
Sotos Syndrome
High, narrow palate, Narrow palate, Tall stature, Cryptorchidism, Increased body weight, Overgrow... OMIM:117550
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ... OMIM:619573
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, High, narrow palate, Failure to thrive, Recurrent urinary tract infections, De... OMIM:615873
Leukoencephalopathy With Vanishing White Matter 1
Primary amenorrhea, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary ame... OMIM:603896
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Cho... OMIM:614576
Kabuki Syndrome
Precocious puberty, Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic j... ORPHA:2322
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Cryptorchidism, Hydronephrosis, Multiple central nervous system lipomas, Lip... OMIM:613001
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ... ORPHA:79456
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Waardenburg Syndrome, Type 4C
Hypogonadism, Aganglionic megacolon, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Hydronephrosis, Overgrowth, Micropenis, Duodenal atresia OMIM:617798
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Hypospadias, Shawl scrotum, High palate OMIM:239710
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:88
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Bifid uterus, Supernumerary nipple ORPHA:1521
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Recurrent pneumonia, Bifid uvula, Eczematoid dermatitis, Hydronephrosis, High palate OMIM:620330
Hereditary Folate Malabsorption
Gastroesophageal reflux, Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblas... ORPHA:90045
Diffuse Alveolar Hemorrhage
Leukocytosis, Irregular septal thickening on pulmonary HRCT, Thrombocytopenia, Anemia, Pulmonary ... ORPHA:90060
Scarf Syndrome
Bifid scrotum, Umbilical hernia, Cryptorchidism, Inguinal hernia, Hypoplastic nipples, Enamel hyp... OMIM:312830
Acromegaly
Acne, Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Dysuri... ORPHA:963
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea ORPHA:2975
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Submucous cleft hard palate, Unilateral ... OMIM:619103
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Umbilical hernia, Ankyloglossia, Vesicoureteral reflux, Cryptor... ORPHA:2745
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Renal salt wasting... OMIM:613743
Ritscher-Schinzel Syndrome 4
Micropenis, Narrow palate, High palate, Cryptorchidism OMIM:619435
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, T... OMIM:235255
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/aplasia, Weight loss, Anal atre... ORPHA:84
X-Linked Mandibulofacial Dysostosis
High palate, Cryptorchidism ORPHA:1131
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Adrenal... ORPHA:85445
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria, Bilateral cryptorchidism OMIM:619685
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Large for gestational age, Cryptorchidism OMIM:610733
Stolerman Neurodevelopmental Syndrome
Bifid uvula, Hypoplastic nipples, Cryptorchidism OMIM:618505
Pontocerebellar Hypoplasia, Type 7
Micropenis, High palate, Ambiguous genitalia, Cryptorchidism OMIM:614969
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Leukemia, Bifid scrotum, Duodenal atresia, Cryptorchidism, Nephrobl... OMIM:257300
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate, Hypospadias, Bifid scrotum ORPHA:66629
Cog5-Cdg
Urinary incontinence, Joint contracture of the hand, Camptodactyly of finger, Cryptorchidism, Neu... ORPHA:263487
Costello Syndrome
Failure to thrive in infancy, Abnormal dental enamel morphology, Cryptorchidism, Macroglossia, Na... ORPHA:3071
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia OMIM:617475
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Anteriorly placed anus, Umbilical hernia, Cryptorchidism, Prominent scrotal raphe,... ORPHA:1555
Crane-Heise Syndrome
Hypoplasia of penis, Cryptorchidism, Cleft palate ORPHA:1512
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Umbilical hernia, Slender build, Cryp... ORPHA:93932
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Megarectum, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Hydr... OMIM:301056
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism OMIM:616395
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothr... OMIM:603585
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Peters Plus Syndrome
Multicystic kidney dysplasia, Intestinal fistula, Umbilical hernia, Congenital hypothyroidism, Cr... ORPHA:709
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Congenital diaphragm... ORPHA:1834
Meier-Gorlin Syndrome 5
Micropenis, Submucous cleft hard palate, Cryptorchidism, Failure to thrive OMIM:613805
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, De... ORPHA:456312
Ritscher-Schinzel Syndrome 3
Cryptorchidism OMIM:619135
Acrocardiofacial Syndrome
Camptodactyly of finger, Cryptorchidism, Hyperthyroidism, Anal atresia, Hypospadias, Hypoplasia o... ORPHA:2008
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Pro... ORPHA:48435
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pelvic kidney, Cryptorchidism OMIM:613951
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Shawl scrotum OMIM:614187
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina ORPHA:457284
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Pelger-Huet Anomaly
Giant platelets, Median cleft palate, Ventricular septal defect, Hyposegmentation of neutrophil n... OMIM:169400
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Bila... OMIM:300998
Koolen-De Vries Syndrome
High, narrow palate, Abnormal dental enamel morphology, Vesicoureteral reflux, Cryptorchidism, Hy... ORPHA:96169
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Aut... OMIM:620565
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Cryptorchidism ORPHA:565624
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Genital ulcers, Failure to thriv... OMIM:602450
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Narrow palate, Supernumerary nipple, Glandular hypospadias, Recurrent otitis media, Hypoplastic l... OMIM:604314
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Opitz Gbbb Syndrome
Umbilical hernia, Rectourethral fistula, Vesicoureteral reflux, Cryptorchidism, Inguinal hernia, ... OMIM:300000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Pallister-Killian Syndrome
Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Supernumerary nipple, Intestin... OMIM:601803
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Intestinal obstruction, Generalized lymphaden... ORPHA:160
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia OMIM:619879
Mosaic Trisomy 8
Camptodactyly of finger, Decreased testicular size, Tall stature, Vesicoureteral reflux, Cryptorc... ORPHA:96061
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1647
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent urinary tract infections, Decreased resp... ORPHA:3455
Distal Duplication 5Q
Hernia, Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism ORPHA:96097
Relapsing Fever
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Thrombocytopen... ORPHA:91547
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteriorly placed anus, Cryptorchidism, Hernia, Hypospadias, Patent ductus arteriosus, Cleft palate OMIM:217980
Vacterl With Hydrocephalus
Femoral hernia, Cryptorchidism, Inguinal hernia, Tracheoesophageal fistula, Esophageal atresia, A... ORPHA:3412
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Panc... OMIM:613990
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Chordee, Cryptorchidism, Supernumerary nipple OMIM:616728
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility, Failure to thrive OMIM:619518
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, 3-Methylglutaconic aciduria, Hypothyroidism, Perineal hypospadias, Hypo... ORPHA:66634
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciur... ORPHA:369837
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Abnormality of the ureter, Ovarian cyst, Rectal prolapse, ... OMIM:175200
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia, Anal ... OMIM:617602
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Renal cel... OMIM:613254
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Volvulus, Recurrent urinary tract infections, Cryptorchidism, ... ORPHA:847
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Noonan Syndrome With Multiple Lentigines
Decreased fertility, Abnormal localization of kidney, Hypospadias, Cryptorchidism ORPHA:500
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Anal atresia, Adre... ORPHA:2166
Microphthalmia, Syndromic 3
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Esophageal atresia, Anteri... OMIM:206900
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Recurrent pneumonia, Enlarged platele... OMIM:608233
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Failure to thrive, Umbilical hernia, Cryptorchidism, 3-Methylglutaconic aciduria, Inguinal hernia... OMIM:614052
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Cryptorchidism, Cleft palate OMIM:619123
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, High palate, Cleft palate OMIM:612530
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Chromosome 18Q Deletion Syndrome
Bifid uvula, Umbilical hernia, Decreased response to growth hormone stimulation test, Failure to ... OMIM:601808
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Esophagiti... OMIM:612562
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part... ORPHA:2847
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Small for gestational age, Bifid scrotum, Anteriorly placed anus, Cryp... OMIM:619148
Perlman Syndrome
Distal ileal atresia, Renal hamartoma, Volvulus, Large for gestational age, Cryptorchidism, Pancr... OMIM:267000
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent lower respiratory tract infections, Increa... OMIM:619774
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Oral leukoplakia, Pancytopenia, T... OMIM:224230
Primary Ciliary Dyskinesia
Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Recurrent otitis media,... ORPHA:244
Kleefstra Syndrome
Supernumerary nipple, Obesity, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Hydron... ORPHA:261494
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... OMIM:617443
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kid... OMIM:301111
Ellis Van Creveld Syndrome
Hydroureter, Failure to thrive, Abnormal morphology of female internal genitalia, Abnormality of ... ORPHA:289
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Splenomegaly, ... OMIM:251290
Wiedemann-Rautenstrauch Syndrome
Long penis, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, Hypospa... OMIM:264090
Alagille Syndrome
Failure to thrive, Abnormality of the ureter, Cryptorchidism, Delayed puberty, Nephrotic syndrome ORPHA:52
Myh9-Related Disease
Elevated circulating hepatic transaminase concentration, Giant platelets, Congenital thrombocytop... ORPHA:182050
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Clitoral hypertrophy, Failure to thrive, Cryptorchidism, Prot... OMIM:214100
Robinow Syndrome, Autosomal Dominant 2
Umbilical hernia, Cleft soft palate, Cryptorchidism, Camptodactyly, Micropenis, Cleft palate OMIM:616331
Acute Promyelocytic Leukemia
Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia... ORPHA:520
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent respiratory infections, Hypertrophic ... OMIM:617303
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Ly... ORPHA:83313
Shigellosis
Pneumonia, Hepatic failure, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, L... ORPHA:810
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Shawl... ORPHA:2282
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, Camptodactyly of finger, High palate ORPHA:284160
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granules, Thrombo... OMIM:187900
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Small for gestational age, Colonic diverticula, Failure to thrive, Anterior... OMIM:243800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... ORPHA:2241
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Central hypothyroidism, Anteriorly placed anus, Failure to... ORPHA:798
Autosomal Recessive Spastic Paraplegia Type 77
Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic bladder, Bilateral cryptorchidism ORPHA:466722
Microphthalmia, Lenz Type
Hydroureter, Camptodactyly of finger, Cryptorchidism, Hydronephrosis, Hypospadias ORPHA:568
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Abnormal morphology of female internal genitalia, ... ORPHA:1790
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Tracheoesophageal fistula, Es... OMIM:614083
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Shawl scrotum, Micropenis, Hypospadias, Patent ductus arteriosus, Cleft palate OMIM:600460
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Trisomy 18
Narrow palate, Abnormal morphology of female internal genitalia, Camptodactyly of finger, Cryptor... ORPHA:3380
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Polycystic ovaries... ORPHA:2969
Donnai-Barrow Syndrome
Proteinuria, Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Acrofrontofacionasal Dysostosis
High palate, Cleft palate, Hypospadias, Bifid scrotum ORPHA:1784
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Anal stenosis, Bifid scrotum, Duo... OMIM:107480
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Failure to thrive, Abnormality of the ut... ORPHA:201
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Camptodactyly, Micropenis, High palate, Cleft palate OMIM:614230
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Cutis Laxa, Autosomal Recessive, Type Iiib
Elbow flexion contracture, Inguinal hernia, Cryptorchidism, Flexion contracture, Pyloric stenosis OMIM:614438
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Large for gestational age, Vesicoureteral reflux, Congenital diaphragmatic hernia,... OMIM:614080
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Elevated circulating thyroid-stimulating hormone concentration, Crypt... OMIM:618183
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Propionic Acidemia
Cardiomyopathy, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Gm1 Gangliosidosis
Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Abnormal scrotum morphology, Splenom... ORPHA:354
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... OMIM:617718
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias OMIM:619859
Lenz-Majewski Hyperostotic Dwarfism
Microglossia, Failure to thrive, Anteriorly placed anus, Elbow flexion contracture, Cryptorchidis... OMIM:151050
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia OMIM:614096
20Q11.2 Microduplication Syndrome
Micropenis, Inguinal hernia, Cryptorchidism, Bifid scrotum ORPHA:363659
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Decreased response to growth hormone stimulation test, External genital hypoplasia, ... ORPHA:177907
Alexander Disease
Precocious puberty, Hypothyroidism, Diabetes mellitus ORPHA:58
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Renal insufficiency, Cryptorchidism, Hydronephrosis, Camptodactyly,... OMIM:611209
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,... OMIM:617591
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Bilateral cryptorchidism, Large for gestational age, Inguinal hernia, Ce... ORPHA:544488
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Camptodactyly of finger, Polycystic ovaries,... ORPHA:2176
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Decreased f... ORPHA:91355
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Gorlin Syndrome
Hypogonadotropic hypogonadism, Ovarian fibroma, Cryptorchidism ORPHA:377
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Neu... ORPHA:2169
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Persistence of hemo... OMIM:260400
Wiedemann-Steiner Syndrome
Failure to thrive, Contracture of the distal interphalangeal joint of the fingers, Cryptorchidism... OMIM:605130
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrin... OMIM:619004
Von Willebrand Disease
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Gastrointestinal ang... ORPHA:903
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis OMIM:263750
Gaucher Disease, Type Ii
Gastroesophageal reflux, Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Rec... OMIM:230900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hepatome... ORPHA:77261
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Small for gestational age, Failure to thrive, Cryptorchidism, Patent d... OMIM:620024
Microphthalmia With Limb Anomalies
Camptodactyly of 2nd-5th fingers, Failure to thrive, Unilateral cryptorchidism, High palate, Clef... OMIM:206920
1Q21.1 Microdeletion Syndrome
Failure to thrive, Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Inguinal hernia, Hydrone... ORPHA:250989
Walker-Warburg Syndrome
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Hypoplasia of penis, Cleft palate ORPHA:899
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Glossitis, Hepatomegaly, Tracheoesophageal fistula, Megaloblastic anemia, Atrial se... OMIM:277380
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... OMIM:301110
Dyskeratosis Congenita
Bone marrow hypocellularity, Blepharitis, Periodontitis, Oral leukoplakia, Abnormal morphology of... ORPHA:1775
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Clitoral hypertrophy, Failure to thrive, Camptodactyly of finge... ORPHA:2554
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Pulmonary fibrosis, Hepatosplenome... OMIM:618278
Lowry-Maclean Syndrome
High, narrow palate, Bilateral cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, ... ORPHA:2409
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Recurrent u... ORPHA:268261
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Umbilical hernia, Cryptorchidism, Submucous cleft hard palate, Ingu... OMIM:192430
Norrie Disease
Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti... ORPHA:649
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricosuria, Uric acid nephrolithiasis, Hi... OMIM:300661
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Tetralogy of Fallot, Leukopenia, Portal hypertension, Abnormal pulmo... ORPHA:974
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Lateral Meningocele Syndrome
High, narrow palate, Umbilical hernia, Inguinal hernia, Cryptorchidism, High palate ORPHA:2789
Somatomammotropinoma
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... ORPHA:314769
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, High, narrow palate, Bifid uvula, Hypogonadism, Abnormal dental enamel... ORPHA:2658
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:301310
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Thrombocytop... ORPHA:319218
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Noonan Syndrome 13
High palate, Cryptorchidism OMIM:619087
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Tay-Sachs Disease
Precocious puberty ORPHA:845
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... OMIM:611126
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... ORPHA:158048
Wolcott-Rallison Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Exocrine pancreat... ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa... OMIM:603553
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Trisomy 20P
Abnormal localization of kidney, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multi... ORPHA:261318
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Say-Barber-Miller Syndrome
Eczematoid dermatitis, Hypogonadism, Cryptorchidism, Impaired neutrophil chemotaxis, Erythema nod... ORPHA:3132
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Abnormality of the gastroin... ORPHA:2070
Immunodeficiency 22
Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive helper T cells... OMIM:615758
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod... OMIM:620233
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Supernumerary nipple, Obesity, Vesicoureteral reflux, Cryptorchidism, Ing... OMIM:618653
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Thrombocytopenia ORPHA:99828
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Failure to thrive, Cryptorchidism, Inguinal hernia, Omphalocele, C... OMIM:247200
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Cryptorchidism, Cleft palate ORPHA:1865
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Diamond-Blackfan Anemia
Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... ORPHA:124
Ellis-Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias OMIM:225500
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, High palate, Patent ductus arteriosus, Bilateral cryptorchidism OMIM:300472
Braddock-Carey Syndrome 2
Cleft palate, Thrombocytopenia OMIM:619981
Ogden Syndrome
Narrow palate, Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Decreased testicular ... OMIM:300855
Cohen Syndrome
High, narrow palate, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Obesity, Cry... ORPHA:193
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni... ORPHA:508542
Glucagonoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos... ORPHA:97280
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Shawl... OMIM:229850
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... ORPHA:99827
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, V... OMIM:617063
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Cryptorchidism, Inguinal hernia, Neurogenic bladder, High palate, Pate... OMIM:130720
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Pontocerebellar Hypoplasia, Type 10
High palate, Cryptorchidism OMIM:615803
Distal Deletion 15Q
Multicystic kidney dysplasia, Small for gestational age, Failure to thrive, Cryptorchidism, Conge... ORPHA:1596
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Renal agenesis, Cryptorchidism, Protruding tongue, Hydronephrosis, Shawl scrotum,... OMIM:301040
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Overlap Myositis
Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Leukopenia, T... ORPHA:206572
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Ankle flexion contracture, Small for gestational age, Failure to thriv... ORPHA:464311
Chops Syndrome
High, narrow palate, Horseshoe kidney, Obesity, Vesicoureteral reflux, Cryptorchidism, Patent duc... OMIM:616368
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Larsen Syndrome
Cryptorchidism, Cleft palate ORPHA:503
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypoth... OMIM:616263
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytosis, Peritonitis, Pan... ORPHA:90038
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Hypogonadism, Cryptorchidism, Anemia, Hypothyroidism, Neutropenia, Leukemia, Pre... ORPHA:221008
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Hypospadias, Cryptorchidism, Supernumerary nipple ORPHA:477993
Distal Deletion 12Q
High, narrow palate, Microglossia, Pituitary adenoma, Maturity-onset diabetes of the young, Annul... ORPHA:96149
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm... ORPHA:454840
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal pulmonary interstitial morpholo... ORPHA:50918
Angelman Syndrome
Delayed menarche, Precocious puberty in females ORPHA:72
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cryptorchidism, Inguinal hernia, Hydronephrosis, Camptodactyly, Hyposp... OMIM:616737
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Umbilical hernia, Glandular hypospadias, Cryptorchidism, Inguinal h... OMIM:136140
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... ORPHA:53035
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... OMIM:267700
Native American Myopathy
Bifid uvula, Congenital contracture, Cryptorchidism, Submucous cleft soft palate, Camptodactyly, ... ORPHA:168572
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome... OMIM:610377
Cockayne Syndrome A
Irregular menstruation, Failure to thrive, Hypogonadism, Renal insufficiency, Cryptorchidism, Thy... OMIM:216400
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Recurrent urinary tract infections, Decreased response to growth hormone stim... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Recurrent urinary tract infections, Decreased response to growth hormone stim... ORPHA:363958
Van Maldergem Syndrome 2
Renal hypoplasia, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Hypoplastic nipples, Mic... OMIM:615546
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Distal Deletion 3P
Umbilical hernia, Inguinal hernia, Cryptorchidism, High palate, Cleft palate ORPHA:1620
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Functional abnormality of the bladder, Arthrogryposis multiplex conge... ORPHA:2953
17Q23.1Q23.2 Microdeletion Syndrome
Blepharitis, Failure to thrive, Chronic otitis media, Shawl scrotum ORPHA:261279
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m... OMIM:612526
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Bladder diverticulum, Increased circulating androgen concentration, Diabete... ORPHA:2976
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Alg12-Cdg
Failure to thrive, Intestinal malrotation, Cryptorchidism, Decreased serum insulin-like growth fa... ORPHA:79324
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Cleft palate, Abnormal lung lobation ORPHA:2631
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97283
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly OMIM:251000
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Zimmermann-Laband Syndrome
Bifid uvula, Abnormal external genitalia, Splenomegaly, Hepatomegaly, Macroglossia, High palate, ... ORPHA:3473
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:537
Chronic Granulomatous Disease
Liver abscess, Recurrent respiratory infections, Splenomegaly, Tracheoesophageal fistula, Hepatom... ORPHA:379
Renal Agenesis, Bilateral
Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Abnormal morphology of fe... ORPHA:1848
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, High palate, Cryptorchidism OMIM:620224
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97261
16P13.11 Microdeletion Syndrome
Cryptorchidism, Cleft palate, Camptodactyly of finger ORPHA:261236
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Celiac disease, Stage 5 chronic kidney disease,... ORPHA:2044
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Glycerol Kinase Deficiency
Increased urinary glycerol, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatiti... OMIM:307030
Peters-Plus Syndrome
Renal hypoplasia, Anteriorly placed anus, Umbilical hernia, Cryptorchidism, Decreased body weight... OMIM:261540
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Type I diabetes mellitus, Membranoproliferative glomerulonephritis OMIM:619858
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Braddock-Carey Syndrome 1
Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Cleft... OMIM:619980
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exo... OMIM:557000
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormal lung lobation, Ventricular septal defect, Tracheoesophageal fistula, Es... OMIM:300514
Avian Influenza
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphopenia, Leuko... ORPHA:454836
Xeroderma Pigmentosum
Aminoaciduria, Keratitis, Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchid... ORPHA:910
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Cryptorchidism, Hydronephrosis, Distal arthrogryposis, High p... OMIM:617557
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Abnormal heart morphology... ORPHA:464321
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate OMIM:614520
Cystinosis, Nephropathic
Hematuria, Weight loss, Hepatomegaly, Male infertility, Aminoaciduria, Generalized aminoaciduria,... OMIM:219800
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, ... OMIM:608013
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Small for gestational age, Failure to thrive, Duodenal atresia, Breast... ORPHA:464306
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Anteriorly placed anus, Hypogonadism, Cryptorchidism, High palate, Small for ge... OMIM:268400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micropenis, High palate, Cryptorchidism, Decreased body weight OMIM:619005
Noonan Syndrome 14
High, narrow palate, Hyperhidrosis, Cryptorchidism OMIM:619745
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Recurrent upper respiratory tract infections, Hepatitis, Lymphopenia, Hepat... ORPHA:391487
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Pleural e... OMIM:617397
Cerebellofaciodental Syndrome
Cryptorchidism OMIM:616202
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Inguinal hernia, Cryptorchidism, Multiple joint contractures, Macroglossia, Art... OMIM:618143
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Delayed puberty, Abnormality of the kidney ORPHA:369
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Monosomy 18Q
Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ... ORPHA:1600
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Cryptorchidism, Hypoplastic nipples, Camptodactyly, Labial hypopla... OMIM:608156
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Recurrent r... ORPHA:36426
Sepsis In Premature Infants
Decreased liver function, Functional abnormality of the gastrointestinal tract, Leukocytosis, Spl... ORPHA:90051
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus, Hypospadias, Cleft palate OMIM:615465
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Renal insufficiency, Renal tubular dysfunct... ORPHA:213
Aicardi-Goutieres Syndrome 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly, Multiple g... OMIM:225750
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis, Ureterocele, Renal dysplasia ORPHA:1934
Alstrom Syndrome
Irregular menstruation, Nephritis, Insulin-resistant diabetes mellitus, Decreased response to gro... OMIM:203800
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Cryptorchidism, Ureteral stenosis ORPHA:2719
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Robinow Syndrome, Autosomal Dominant 3
Anteriorly placed anus, Vesicoureteral reflux, Cryptorchidism, Camptodactyly, Bifid tongue, Ompha... OMIM:616894
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Joint contracture of the hand, Failure to thrive, Breast hypoplasia, Crypto... OMIM:224690
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Bifid uvula, Tall stature, Cryptorchidism, Cleft palate OMIM:309583
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Failure to thrive, Horseshoe kidney, Penile hypospadias, Cryptorchidism, High palate, Hypospadias... OMIM:620083
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Intestinal lymphangiectasia, Horseshoe... OMIM:235510
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Pleural effusion, Abnormality of the ... ORPHA:93552
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
16Q24.3 Microdeletion Syndrome
High palate, Cryptorchidism ORPHA:261250
Carey-Fineman-Ziter Syndrome 1
Microglossia, Failure to thrive, Cryptorchidism, High palate, Glossoptosis, Flexion contracture, ... OMIM:254940
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Lymphangioma, Splenom... ORPHA:744
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Hypopl... ORPHA:699
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Cryptorchidism, Inguinal hernia, Overgrowth, Cam... OMIM:277590
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutrophilia, Myelop... ORPHA:3260
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Cryptorchidism, Long uvula, Inguinal hernia,... ORPHA:536532
Townes-Brocks Syndrome
Renal hypoplasia, Urethral valve, Abnormal vagina morphology, Abnormality of the uterus, Bifid sc... ORPHA:857
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Patent ductus arteriosus, Cryptorchidism OMIM:613834
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Hamartoma of tongue, Cryptorchidism, Renal cyst, Ambiguous genitalia, Omphaloce... OMIM:616300
3Mc Syndrome 2
Horseshoe kidney, Cryptorchidism, High palate, Hypospadias, Cleft palate OMIM:265050
Orofaciodigital Syndrome V
Bifid uvula, Horseshoe kidney, Ankyloglossia, Hamartoma of tongue, Aganglionic megacolon, Bifid t... OMIM:174300
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Thrombocytopenia, Pericar... OMIM:618775
Noonan Syndrome
Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Abnormality of the spleen, Dela... ORPHA:648
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Enuresis, Aplasia/hypoplasia of the uterus, Obesity, Cryptorchidism, C... ORPHA:96121
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Clitoral hypertrophy,... ORPHA:63
Drug-Induced Lupus Erythematosus
Anemia, Pericardial effusion, Thrombocytopenia, Pericarditis ORPHA:231111
Trichodermodysplasia-Dental Alterations Syndrome
Adenoma sebaceum, Abnormal morphology of female internal genitalia ORPHA:3353
Craniofrontonasal Syndrome
Umbilical hernia, Breast hypoplasia, Cryptorchidism, Congenital diaphragmatic hernia, Unilateral ... OMIM:304110
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Dilatation of renal calices, Cl... OMIM:614294
Jacobsen Syndrome
Annular pancreas, Failure to thrive, Cryptorchidism, Labial hypoplasia, Flexion contracture, Hypo... OMIM:147791
Cloacal Exstrophy
Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Intestinal malrotation, Vesic... ORPHA:93929
De Barsy Syndrome
Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism, Lipodystrophy, High palate,... ORPHA:2962
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, External genital hypoplasia, Cryptorchidism, Micropenis, High palate, ... ORPHA:251028
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Failure to thrive, Camptodactyly of finger, Cryptorchidism, Submucous cleft hard pal... ORPHA:3047
Loeys-Dietz Syndrome
Bifid uvula, Atypical scarring of skin, Uterine rupture, Camptodactyly of finger, Tall stature, H... ORPHA:60030
Intellectual Developmental Disorder, Autosomal Dominant 29
Ankyloglossia, Obesity, Cryptorchidism, High palate, Narrow palate OMIM:616078
Koolen-De Vries Syndrome
Narrow palate, Small for gestational age, Failure to thrive, Vesicoureteral reflux, Cryptorchidis... OMIM:610443
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Failure to thrive, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Splenom... OMIM:614866
Distal Duplication 17Q
High palate, Vesicoureteral reflux, Cryptorchidism, Cleft palate ORPHA:3379
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Pitt-Hopkins Syndrome
Micropenis, Cryptorchidism, Supernumerary nipple OMIM:610954
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno... OMIM:609981
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Absent uvula OMIM:616531
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Elevated circu... OMIM:300942
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Recurrent sinusitis, Chronic otitis media, Male infertility OMIM:300991
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis OMIM:301066
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Elevated urinary norepinephrine l... ORPHA:29072
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Hypospadias, ... OMIM:618846
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hypohidrosis, Hepatomegaly ORPHA:163746
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Failure to thrive, Ureteropelvic junction obstruction, Inguinal hernia, C... ORPHA:444072
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Gastroesophageal reflux, Thrombocytopenia OMIM:616577
Congenital Myopathy 13
High palate, Flexion contracture, Cryptorchidism, Cleft palate OMIM:255995
Codas Syndrome
Cryptorchidism, Enamel hypoplasia, Omphalocele, Anal atresia, Rectovaginal fistula OMIM:600373
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Central hypothyroidism, Anteriorly placed... OMIM:620305
Hamamy Syndrome
Inguinal hernia, Cryptorchidism, Enamel hypoplasia, Hypoparathyroidism, High palate OMIM:611174
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Unilateral renal hypoplasia OMIM:619950
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypereosinophilia, Leukocytosis, Pleural effusion, Abnormality of the gastrointestin... ORPHA:2902
Osteoglophonic Dysplasia
Failure to thrive, Cryptorchidism, Chordee, High palate, Hypospadias OMIM:166250
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Cryptorchidism ORPHA:2673
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Cryptorchidism ORPHA:1101
Cornelia De Lange Syndrome 1
Cryptorchidism, Hypoplastic labia majora, High palate, Ectopic kidney, Hypospadias, High, narrow ... OMIM:122470
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Elevated circ... OMIM:615895
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Central adrenal insuf... ORPHA:488632
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Hepatoblastoma, Hepatomeg... OMIM:312870
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Stage 5 chronic kidney disease, Podocyte foot process effacement, Prot... OMIM:619609
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent pneumonia, Adrenocorticotropin deficient adrenal insufficienc... ORPHA:293978
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Noonan Syndrome 1
High, narrow palate, Juvenile myelomonocytic leukemia, Hypogonadism, Failure to thrive in infancy... OMIM:163950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Failure to thrive, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism, Hydroneph... ORPHA:453499
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Hypercalciuria, Male infertility ORPHA:2239
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Horseshoe kidney, Vesicoureteral... ORPHA:138
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Inguinal hernia, Shawl scrotum, High palate, Camptodactyly, Narrow palate, Pollak... OMIM:227330
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Joint contracture of the hand, Anteriorly placed anus, Umbilical he... OMIM:305450
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hypogonadism, Flexion contracture, Hip contracture, Bilateral cryptorchidism ORPHA:3042
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydronephrosis, Hypospadias, Patent ductus arteriosus, Cleft ... OMIM:300712
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:3002
Penile Agenesis
Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Cryptorchidism, Hydronephro... ORPHA:49
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Thro... OMIM:617941
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Ivic Syndrome
Anal atresia, Rectovaginal fistula, Leukocytosis, Thrombocytopenia ORPHA:2307
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Oral leukoplakia, Abnormal leukocyte morphology, Thrombocytopenia, A... ORPHA:3322
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Glomerulonep... OMIM:614376
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal de... ORPHA:79330
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Elevated urinary norepinephrine l... ORPHA:276621
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula... ORPHA:1335
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Ciliary Dyskinesia, Primary, 9
Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron... OMIM:612444
Anal Fistula
Anoperineal fistula, Leukocytosis ORPHA:228113
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula OMIM:618748
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Barber-Say Syndrome
Breast aplasia, Hypoplastic nipples, Failure to thrive, Shawl scrotum ORPHA:1231
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Noonan Syndrome 10
Patent ductus arteriosus, Cryptorchidism, High palate OMIM:616564
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:259700
Dubowitz Syndrome
Anal stenosis, Eczematoid dermatitis, Abnormal female external genitalia morphology, Cryptorchidi... ORPHA:235
Cohen-Gibson Syndrome
Umbilical hernia, Tall stature, Cryptorchidism, Overgrowth, Camptodactyly, Flexion contracture, P... OMIM:617561
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Failure to thrive, Abnormality of the uterus, Volvulus, Intestinal ... ORPHA:199
Neurofibromatosis Type 1
Precocious puberty, Pheochromocytoma, Cryptorchidism, Abnormality of the upper urinary tract, Del... ORPHA:636
Frontometaphyseal Dysplasia 2
Bifid uvula, Keloids, Ulcerative colitis, Elbow contracture, Cryptorchidism, Hip contracture, Neu... OMIM:617137
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Nephroblastoma OMIM:618272
Faundes-Banka Syndrome
Premature thelarche, Delayed puberty, Cryptorchidism OMIM:619376
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Failure to thrive, Abnormal dental enamel morpho... ORPHA:2556
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria, Decreased pineal volume OMIM:301108
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Abnormal female external genitalia morphology, Hypogonadism,... ORPHA:1606
20Q13.33 Microdeletion Syndrome
Decreased scrotal rugation, Failure to thrive in infancy, Hypospadias, Small for gestational age ORPHA:261311
Multiple Pterygium Syndrome, Escobar Variant
Arthrogryposis multiplex congenita, Umbilical hernia, Cryptorchidism, Congenital diaphragmatic he... OMIM:265000
Barber-Say Syndrome
Absent nipple, Velopharyngeal insufficiency, Cryptorchidism, Hypoplastic nipples, Hypoplastic lab... OMIM:209885
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Proteinuria, Renal Fanconi syndr... ORPHA:263455
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Inguinal hernia, Cryptorchidism, Abnormality of the hypothalamus-pituita... ORPHA:251014
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
3Mc Syndrome
Supernumerary nipple, Umbilical hernia, Bilateral cryptorchidism ORPHA:293843
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Pitt-Hopkins Syndrome
Failure to thrive, Supernumerary nipple, Esophagitis, Cryptorchidism, Hiatus hernia, Aganglionic ... ORPHA:2896
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Baller-Gerold Syndrome
Bifid uvula, Anteriorly placed anus, Perineal fistula, High palate, Anal atresia, Rectovaginal fi... OMIM:218600
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, Knee flexion contracture, Wrist flexion contrac... ORPHA:3103
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Uveitis, Lymphopenia, Abnormal lymphocyte morphology, Leuk... ORPHA:99826
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n... OMIM:274150
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Cryptorchi... OMIM:256520
Saethre-Chotzen Syndrome
Narrow palate, Cryptorchidism, Cleft palate ORPHA:794
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, High palate,... OMIM:617022
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria, Cryptorchidism, Inguinal hernia, Patent ductus art... ORPHA:85276
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He... ORPHA:167
Nephrotic Syndrome, Type 1
Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis, Hyp... OMIM:256300
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Obesity, Proteinuria, Delayed puberty, Episodic hemolytic anemia, Membranoproliferati... ORPHA:251004
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Ne... OMIM:613404
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Hydrometrocolpos, Chronic gastritis, Vesicoureteral reflux, Inguinal he... OMIM:150230
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Cryptorchidism, High palate, Patent ductus arteriosus, Cleft palate OMIM:610759
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Umbilical hernia, Cryptorchidism, Inguinal hernia, Minimal subcuta... OMIM:182212
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Pneumonia, Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia... OMIM:615846
Digeorge Syndrome
Ovarian cyst, High palate, Patent ductus arteriosus, High, narrow palate, Cholelithiasis, Parathy... OMIM:188400
De Sanctis-Cacchione Syndrome
Gonadal hypoplasia, Bilateral cryptorchidism OMIM:278800
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Failure to thrive, Abnormality of the ureter, Aganglionic megacolon, H... ORPHA:3339
Ring Chromosome 13 Syndrome
Bifid scrotum, Primary hypothyroidism, Ambiguous genitalia, Anal atresia, Urogenital sinus anomal... ORPHA:96176
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine level OMIM:171420
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Vesicoureteral reflux, Cryptor... ORPHA:438213
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Diabetes mellitus OMIM:616026
Shprintzen-Goldberg Syndrome
High, narrow palate, Failure to thrive, Camptodactyly of finger, Umbilical hernia, Inguinal herni... ORPHA:2462
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent upper respiratory ... OMIM:301000
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum, Omphalocele, Ectop... ORPHA:1519
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Bifid scrotum, Anteriorly placed anus, Prominent scrotal raphe, Hypop... OMIM:123790
Mend Syndrome
Failure to thrive, Cryptorchidism, High palate, Abnormal social behavior, Cleft palate ORPHA:401973
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Interstitial pneumonitis, Thrombocytopenia ORPHA:454831
Double Outlet Left Ventricle
Patent ductus arteriosus, Cryptorchidism, Failure to thrive ORPHA:3427
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Macroglossia, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:256040
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Tricuspid stenosis, Persistence of hemoglobin F, Elevated red ... OMIM:105650
Beta-Ureidopropionase Deficiency
Bifid scrotum, Elevated urinary ureidopropionic acid level, Elevated urinary N-carbamyl-beta-amin... OMIM:613161
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:613845
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Failure to thrive, Cryptorchidism, Aplasia of the... OMIM:194190
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothyroidism, Hydrocele testis OMIM:616843
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Umbilical hernia, Intestinal malrotation, Ga... OMIM:135900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... OMIM:601399
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Hypoplasia of the bladder, Renal agen... OMIM:249000
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Systemic Capillary Leak Syndrome
Leukocytosis, Pleural effusion, Pulmonary edema, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Umbilical hernia, Inguinal hernia, Cryptorchidism, Micropenis, High palate OMIM:613884
Hajdu-Cheney Syndrome
Hypospadias, Failure to thrive, Umbilical hernia, Intestinal malrotation, Cryptorchidism, Inguina... OMIM:102500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydronephrosis, Micropenis, Hypospadias, Patent ductus arteri... ORPHA:163979
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Large for gestational age, Inguinal hernia, Cryptorchidism, High palate OMIM:607721
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Coffin-Siris Syndrome
Horseshoe kidney, Cryptorchidism, Hernia, Papillary thyroid carcinoma, Hypospadias, Patent ductus... ORPHA:1465
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Bronchiectasis, Male infertility, Absent inner and outer dynein arms OMIM:618801
Tarp Syndrome
Failure to thrive, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Abnormal duodenum morphology... ORPHA:2886
Toriello-Carey Syndrome
Anteriorly placed anus, Cryptorchidism, Aganglionic megacolon, High palate, Patent ductus arterio... ORPHA:3338
Craniolenticulosutural Dysplasia
Bifid uvula, High palate, Cryptorchidism, Cleft palate OMIM:607812
Kagami-Ogata Syndrome
Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Pulmonic stenosis, P... OMIM:608149
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Microphallus, Camptodactyly of... ORPHA:468631
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... ORPHA:333
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Abnormal inte... ORPHA:1830
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp... OMIM:259720
Wiskott-Aldrich Syndrome
Hematochezia, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine... ORPHA:906
Ehlers-Danlos Syndrome, Vascular Type
Cigarette-paper scars, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Inguinal her... OMIM:130050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperhidrosis, Hyperi... ORPHA:276608
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Gracile Bone Dysplasia
Asplenia, Ankyloglossia, Hypoplastic spleen OMIM:602361
Necrotizing Enterocolitis
Abnormal heart morphology, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Precocious puberty, Cholelithiasis... ORPHA:904
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Scimitar Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Bronchogenic cyst, Abn... ORPHA:185
Ciliary Dyskinesia, Primary, 18
Male infertility, Recurrent otitis media, Abdominal situs ambiguus, Recurrent sinusitis, Immotile... OMIM:614874
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Oral leukoplakia, Horseshoe kidney, Decreased testicular size, Pancy... OMIM:305000
Meckel Syndrome
Accessory spleen, Asplenia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furro... ORPHA:564
Monosomy 9P
Ureteropelvic junction obstruction, Cryptorchidism, Congenital diaphragmatic hernia, Hernia, Ambi... ORPHA:261112
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Decreased body weight, Chordee, Urinary incontinenc... ORPHA:2152
Desmosterolosis
Bifid uvula, Renal agenesis, Failure to thrive, Intestinal malrotation, Splenomegaly, Submucous c... ORPHA:35107
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Slender build, Cryptorchidism, Submucous cleft soft palate, Pineal cyst, Del... OMIM:300967
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Abnormality of the gastrointestinal trac... ORPHA:79325
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, High, narrow palate, Camptodactyly of finger, Umbilical hernia, Hypopl... ORPHA:3107
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Goiter, Splenomegaly, Thrombocytopenia, ... ORPHA:525731
Papa Syndrome
Proteinuria, Type I diabetes mellitus ORPHA:69126
Bartsocas-Papas Syndrome 1
Absent external genitalia, Anal stenosis, Arthrogryposis multiplex congenita, Bilateral cryptorch... OMIM:263650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric... ORPHA:31150
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis, Diabetes mellitus OMIM:209010
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper... ORPHA:77293
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Ileus, Cryptorchidism, Aganglionic megacolon, Hypohidrosis, ... OMIM:609136
Kbg Syndrome
Cryptorchidism, Epispadias OMIM:148050
Ivic Syndrome
Intestinal malrotation, Tetralogy of Fallot, Leukocytosis, Thrombocytopenia, Anal atresia, Rectov... OMIM:147750
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Hypospadias, Septate... ORPHA:261537
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Secundum atrial septal defect, Polycythemia... ORPHA:870
Degcags Syndrome
Chronic kidney disease, Cholestasis, Hepatosplenomegaly, Pancytopenia, Cryptorchidism, Protruding... OMIM:619488
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Exocrine pancreatic insufficiency, Absence of subcutaneous fat, Cryptorchidism,... OMIM:620005
Acromelic Frontonasal Dysostosis
Hypopituitarism, Midline central nervous system lipomas, Submucous cleft soft palate, Cryptorchid... OMIM:603671
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ectopic anus, Amb... ORPHA:93271
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Absent uvula, Intestina... OMIM:619708
Noonan Syndrome 3
Patent ductus arteriosus, Cryptorchidism, High palate OMIM:609942
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Cryptorchidism, Micropenis, Hypospadias, Patent ductus arteriosus ORPHA:163956
Aicardi Syndrome
Precocious puberty OMIM:304050
Acrocallosal Syndrome
Bifid uvula, Failure to thrive, Umbilical hernia, Cryptorchidism, Protruding tongue, Inguinal her... OMIM:200990
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Bifid scrotum, Shawl scrotum, Hypospadias, Epispadias ORPHA:2211
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Chronic otitis media, ... ORPHA:534
Mend Syndrome
Crossed fused renal ectopia, Cryptorchidism, Failure to thrive, High palate OMIM:300960
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Acute hepatic fa... ORPHA:99901
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Renal dysplasia, Renal insufficiency, Lipid accumulation in hepatocytes, Hydroneph... OMIM:608836
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Duodenal atresia, Tall stature, Furrowed tongue, Vesicoureteral reflux, Cryptor... OMIM:616975
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Meckel diverticulum, Horseshoe kidney, Hepatosplenomegaly, Vesico... OMIM:274000
Hallermann-Streiff Syndrome
High, narrow palate, Hypothyroidism, Cryptorchidism, Glossoptosis ORPHA:2108
Ciliary Dyskinesia, Primary, 34
Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Absent central microtubular pair morpholog... OMIM:617091
Snakebite Envenomation
Hypopituitarism, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Alg3-Cdg
Decreased liver function, Cardiomyopathy, Abnormality of the gastrointestinal tract, Macroglossia... ORPHA:79321
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Bilateral cryptorchidism, Reduced subcutaneous adipose tissue, Inguinal hernia... OMIM:617403
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Failure to thrive, Hepatosplenomegaly, Cryptorchidism, Splenome... OMIM:613563
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Gastrointestinal infarctions, Pleuritis, Leukocytosis, Respiratory trac... ORPHA:544482
Holoprosencephaly
Failure to thrive in infancy, Panhypopituitarism, Median cleft palate, Cryptorchidism, Congenital... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Cryptorchidism, Anal atresia, Hypoplastic male external genitalia, Cleft ... OMIM:236670
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Supernumerary nipple, Elbow flexion contracture, Cryptorc... OMIM:619194
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Gastrointestinal infarctions,... ORPHA:464343
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumo... OMIM:613177
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Leukopenia, Pulmonary hemorrhage, Sple... OMIM:222700
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Atelectasis, Lymphopenia, Leukopenia, Le... ORPHA:319213
Camurati-Engelmann Disease
Urinary retention, Hypogonadism, Slender build, Leukopenia, Splenomegaly, Anemia, Cachexia, Delay... ORPHA:1328
Kabuki Syndrome 1
Anoperineal fistula, Congenital hypothyroidism, Crossed fused renal ectopia, Ureteropelvic juncti... OMIM:147920
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Supernumerary nipple, Decreased response to growth hormone stimulation... OMIM:213980
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Hydroureter, Supernumerary nippl... ORPHA:373
Au-Kline Syndrome
Chronic kidney disease, Bifid uvula, Failure to thrive, Supernumerary nipple, Vesicoureteral refl... OMIM:616580
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Breast hypoplasia, Ureteropelvic junction ... ORPHA:506358
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Hellp Syndrome
Elevated circulating hepatic transaminase concentration, Microangiopathic hemolytic anemia, Hemol... ORPHA:244242
Congenital Syphilis
Pneumonia, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancrea... ORPHA:499009
Aymé-Gripp Syndrome
Breast hypoplasia, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Proteinuria,... ORPHA:1272
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Cryptorchidism, Submucous cleft hard palate, Hydronephrosis, High p... ORPHA:1340
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Whipple Disease
Mediastinal lymphadenopathy, Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Anemia, Hy... ORPHA:3452
Mosaic Trisomy 20
Horseshoe kidney, Cryptorchidism, Cleft palate ORPHA:1724
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Dilated car... OMIM:615688
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Schneckenbecken Dysplasia
Cryptorchidism, Cleft palate ORPHA:3144
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity, Elevated circulating parathyroid ... OMIM:603233
Ulbright-Hodes Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Enlarged labia minora, Cryptor... ORPHA:3404
Ctcf-Related Neurodevelopmental Disorder
Small for gestational age, Failure to thrive, Cryptorchidism, Phimosis, Joint contracture of the ... ORPHA:363611
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Psoriasis 14, Pustular
Furrowed tongue, Leukocytosis, Geographic tongue, Neutrophilia, Cholangitis OMIM:614204
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Failure to thrive in infancy, Female pseudohermap... ORPHA:1308
Trisomy 8P
Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Mult... ORPHA:264450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality... ORPHA:2072
Dubowitz Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, Inguinal hernia, High ... OMIM:223370
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Acquired Purpura Fulminans
Hepatic failure, Thrombocytopenia ORPHA:49566
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Cryptorchidism, Congenital diaphragmatic he... ORPHA:2911
Gaucher Disease
Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatic failure, Hepatitis, Abnor... ORPHA:355
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypoparathyroidism, Anal atresia, Polycystic kidney dysplasia, Hypospadias, Chron... ORPHA:567
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall... ORPHA:3384
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... OMIM:232200
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Increased fecal coproporphyrin 1, R... OMIM:263700
Trichothiodystrophy
High, narrow palate, Increased mean corpuscular hemoglobin concentration, Eczematoid dermatitis, ... ORPHA:33364
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Decreased testicular size, Cryptorchidism, Inguinal hernia, Delayed puberty, Lower-limb joint con... ORPHA:459070
Ddost-Cdg
Nephrotic range proteinuria, Primary hypothyroidism ORPHA:300536
Congenital Diaphragmatic Hernia
Intestinal malrotation, Pulmonary hypoplasia ORPHA:2140
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Cleft palate, Enlarged kidney, Cystic re... OMIM:608022
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Failure to thrive, Skin rash, Kerato... ORPHA:79128
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia, Male infertility OMIM:618948
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatospleno... ORPHA:505248
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... OMIM:248250
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Obesity, Abnormal social behavior ORPHA:444002
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Multicystic kidney dysplasia, Camptodactyly of finger, Umb... ORPHA:1507
Neurofibromatosis-Noonan Syndrome
Cryptorchidism OMIM:601321
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Recurrent respiratory infections, Lymphopenia, Pancytopenia, Leukopenia,... OMIM:620654
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Camptodactyly of finger, Cryptorchidism, Camptodactyly of toe, High pa... ORPHA:261337
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Congenital contracture, Camptodactyly of finger, Elbow contracture, Cryptorc... OMIM:208150
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp... ORPHA:729
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Adnp Syndrome
Umbilical hernia, Inguinal hernia, Cryptorchidism, Truncal obesity, Urinary incontinence ORPHA:404448
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Failure t... ORPHA:83617
Meckel Syndrome, Type 6
Hepatic fibrosis, Pulmonary hypoplasia, Absent gallbladder, Hepatic cysts, Bilobed right lung, Bi... OMIM:612284
Charge Syndrome
Lymphopenia, Cryptorchidism, Hypoparathyroidism, Anal atresia, Duodenal atresia, Parathyroid hypo... OMIM:214800
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Cockayne Syndrome B
Failure to thrive, Renal insufficiency, Cryptorchidism, Splenomegaly, Proteinuria, Hepatomegaly, ... OMIM:133540
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Oligomenorrhea, Ab... OMIM:219090
Marden-Walker Syndrome
Abnormal penis morphology, Bifid uvula, Multicystic kidney dysplasia, Abnormality of the urinary ... ORPHA:2461
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Hypospadias, Patent ... ORPHA:261552
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Tracheoesophageal fistula, Esophageal atresia, Transposition of th... OMIM:314390
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Slender b... ORPHA:466791
Hallermann-Streiff Syndrome
High, narrow palate, Cryptorchidism, High palate, Narrow palate, Small for gestational age OMIM:234100
Atelosteogenesis, Type I
Cryptorchidism, Cleft palate OMIM:108720
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pulmonary hypoplasia OMIM:616733
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
High palate, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Okamoto Syndrome
Urinary incontinence, Anal stenosis, Exaggerated median tongue furrow, Intestinal malrotation, Un... ORPHA:2729
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Dilated third ventricle, Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidi... OMIM:620371
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia OMIM:616271
White-Kernohan Syndrome
Hydroureter, Anteriorly placed anus, Horseshoe kidney, Obesity, Hydronephrosis, Hypothyroidism, R... OMIM:619426
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis ORPHA:676
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Failure to thrive, Cryptorchidism, High palate, Patent ductus arteriosus OMIM:617506
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormal morphology of female internal genitalia, Hematuria, Renal angiom... ORPHA:538
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Pulmonary hypoplasia OMIM:617468
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Chronic kidney disease, Nephropathy, Uterine neoplasm, Vaginal neoplasm, Stage 5 chronic kidney d... ORPHA:1018
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Spondylodysplastic Ehlers-Danlos Syndrome
Hypogonadism, Elbow flexion contracture, Atrophic scars, Cryptorchidism, Multiple joint contractu... ORPHA:536471
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Arthrogryposis multiplex congenita, Cryptorchidism, Failure to thrive OMIM:619512
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Ascites, Renal insuf... OMIM:276700
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Pneumonia, Increased circulating cortisol level, Increased circulating... ORPHA:97287
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Hepatomegaly, Enlargement of parotid ... ORPHA:797
Rubinstein-Taybi Syndrome 1
Bilateral cryptorchidism, Cryptorchidism, Hydronephrosis, Premature thelarche, Shawl scrotum, Pap... OMIM:180849
Orofaciodigital Syndrome I
Hamartoma of tongue, Ankyloglossia, Ovarian cyst, Proteinuria, Hypothalamic hamartoma, Enamel hyp... OMIM:311200
Mody
Abnormal circulating insulin concentration, Nephropathy, Pancreatic hypoplasia, Insulin-resistant... ORPHA:552
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperplastic labia majora, Increa... ORPHA:79318
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Periportal fibrosis, Ascites, Hamartoma of tongue, Intestinal malrotation, Medi... OMIM:269860
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Catel-Manzke Syndrome
Bifid uvula, Umbilical hernia, Cryptorchidism, Inguinal hernia, Camptodactyly, High palate, Gloss... OMIM:616145
Hypotonia, Ataxia, And Delayed Development Syndrome
Micropenis, Vesicoureteral reflux, Cryptorchidism OMIM:617330
Intellectual Developmental Disorder, Autosomal Dominant 73
Premature adrenarche, Hydroureter, Tall stature, Ankyloglossia, Cleft soft palate, Cryptorchidism... OMIM:620450
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Joint contracture of the hand, Keloids, Failure to thrive, Camptodactyly of finger... OMIM:309000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:453504
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism, Aplasia of the left hemidiaphragm OMIM:620025
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:352665
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent urinary tract infections, Recurrent otitis media, Ankyloglossia, Crossed fused renal ec... OMIM:619841
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Femoral-Facial Syndrome
Camptodactyly of finger, Cryptorchidism, Inguinal hernia, Hypoplastic labia majora, Maternal diab... OMIM:134780
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent pneumonia, Recurrent infection of the gastrointestinal tract, Autoimmune... OMIM:251260
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Pallister-Hall-Like Syndrome
Microglossia, Anterior hypopituitarism, Cleft palate, Pulmonary hypoplasia OMIM:241800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Horseshoe kidney, Cryptorchidism, Inguinal hernia, Knee flexion contracture, Micro... OMIM:609945
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Bent Bone Dysplasia Syndrome 2
Micropenis, Hepatomegaly, Shawl scrotum OMIM:620076
Monosomy 9Q22.3
Tall stature, Ovarian fibroma, Large for gestational age, Umbilical hernia ORPHA:77301
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Microphthalmia With Limb Anomalies
Failure to thrive, Camptodactyly of 2nd-5th fingers, Horseshoe kidney, Cryptorchidism, High palat... ORPHA:1106
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Pseudoaminopterin Syndrome
Horseshoe kidney, Inguinal hernia, Cryptorchidism, High palate, Posterolateral diaphragmatic hernia ORPHA:221120
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Multicystic kidney dysplasia, Microglossia, Abnormal dental enamel morpholo... ORPHA:818
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Premature ovarian insufficiency, Proteinuria, Renal cyst, Hypothyroidism, N... OMIM:212065
Jacobsen Syndrome
Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatiti... ORPHA:2308
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Umbilical hernia, Cryptorchidism, Inguinal hernia, Hydronephrosis, Short hard pala... OMIM:180700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Cutis Laxa, Autosomal Recessive, Type Iic
Nephrocalcinosis, Bilateral cryptorchidism, Median cleft palate, Reduced subcutaneous adipose tis... OMIM:617402
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Abscess, Respiratory tract infection, Increased circulating myelocyte count... ORPHA:36234
Wolf-Hirschhorn Syndrome
Hypospadias, Failure to thrive, Cryptorchidism, Congenital diaphragmatic hernia, Hernia, Cleft pa... ORPHA:280
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Cleft pal... OMIM:616897
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Pulmonary hypoplasia, Bro... ORPHA:1199
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Umbilical hernia, Intestinal malrotation, Atrophic scars, Cryptorchidism, Hydronephrosis, Hiatus ... OMIM:601776
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Lathosterolosis
Intrahepatic cholestasis, Hepatic failure, Abnormal platelet morphology, Thrombocytopenia, Anisop... ORPHA:46059
Omodysplasia 1
Cryptorchidism, Umbilical hernia OMIM:258315
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Cleft palate, Pulm... OMIM:202650
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Congenital Myopathy 1B, Autosomal Recessive
High palate, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Carpenter Syndrome 2
High, narrow palate, Narrow palate, Supernumerary nipple, Bilateral cryptorchidism, Umbilical her... OMIM:614976
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Camptodactyly, Micropenis, High palate, Hypospadias, Small for gestational age, F... OMIM:309590
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Microglossia, Umbilical hernia, Hypoplastic labia minora, Cryptorchidism, Ingui... OMIM:268310
Donnai-Barrow Syndrome
Proteinuria, Bicornuate uterus, Non-acidotic proximal tubulopathy OMIM:222448
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Xerostomia, Abnormal dental enamel morphology, Vesicoureteral refl... ORPHA:2363
Marshall-Smith Syndrome
Failure to thrive, Anteriorly placed anus, Bilateral cryptorchidism, Umbilical hernia, Tall statu... OMIM:602535
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
17Q11 Microdeletion Syndrome
Precocious puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Renal arter... ORPHA:97685
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Myhre Syndrome
Small for gestational age, Obesity, Cryptorchidism, Camptodactyly, Patent ductus arteriosus, Clef... OMIM:139210
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma... ORPHA:141127
Elsahy-Waters Syndrome
Bifid uvula, Anal stenosis, Bifid scrotum, Bilateral cryptorchidism, Anteriorly placed anus, Peno... OMIM:211380
Nicolaides-Baraitser Syndrome
High, narrow palate, Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism OMIM:601358
Primary Sjögren Syndrome
Normocytic anemia, Usual interstitial pneumonia, Biliary cirrhosis, Xerostomia, Bronchitis, Parot... ORPHA:289390
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Umbilical hernia, Large for gestational age, Ureteropelvic junctio... OMIM:280000
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Larsen Syndrome
Cryptorchidism, Cleft palate OMIM:150250
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t... OMIM:618213
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Rothmund-Thomson Syndrome Type 2
Abnormal dental enamel morphology, Cryptorchidism, High palate, Small for gestational age, Cleft ... ORPHA:221016
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:619525
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Thrombocytopenia, Dysphagia, Normochromic anemia OMIM:254900
Wrinkly Skin Syndrome
Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism, Lipodystrophy, High palate ORPHA:2834
Melas
Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Proximal tubulopathy, ... ORPHA:550
Lysinuric Protein Intolerance
Hepatic failure, Elevated circulating hepatic transaminase concentration, Intraalveolar phospholi... ORPHA:470
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal social behavior, Abnormal urinary acylglycine pr... ORPHA:391417
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Delayed puberty, Urinary mulberry cells OMIM:301500
Pheochromocytoma
Proteinuria, Pheochromocytoma, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Nijmegen Breakage Syndrome
Acute leukemia, Anal stenosis, Recurrent pneumonia, Recurrent respiratory infections, Anorectal a... ORPHA:647
Orofaciodigital Syndrome Xiv
Anteriorly placed anus, Hamartoma of tongue, Unilateral renal hypoplasia, Cryptorchidism, Aplasia... OMIM:615948
Noonan Syndrome 2
Cryptorchidism, Distal arthrogryposis, High palate, Arthrogryposis multiplex congenita, Patent du... OMIM:605275
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch... OMIM:256550
Trichohepatoenteric Syndrome 1
Galactosuria, Hepatic fibrosis, Bifid uvula, Failure to thrive, Cholestasis, Villous atrophy, Spl... OMIM:222470
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Absent scrotum, Keratoconjunctivitis sicca OMIM:618479
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Bilateral cryptorchidism, Hamartoma of tongue, Aplasia of the epiglottis... ORPHA:434179
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms, Rhinitis, Bronch... OMIM:614935
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Thrombocytopenia, Anemia, Gas... OMIM:612199
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infectio... ORPHA:353281
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Hypospadias ORPHA:93357
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Absence of pubertal development, Malar rash, Renal i... ORPHA:191
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,... ORPHA:293173
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Abnormal circulating calcium-phosphate regulating hormone concentration, Hydroureter... ORPHA:2636
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Cardiomegaly, Mucop... OMIM:252500
Tibial Hemimelia
Cryptorchidism, Knee flexion contracture, Ambiguous genitalia, Hypospadias, Cleft palate ORPHA:93322
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena ORPHA:853
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Xerostomia, Hematuria, Neutropenia, Intestinal perforation,... ORPHA:95455
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, High palate, Dysphagia, Pulm... OMIM:616866
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Al Amyloidosis
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... ORPHA:85443
6Q Terminal Deletion Syndrome
High, narrow palate, Failure to thrive, Obesity, Phimosis, Hypospadias ORPHA:75857
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Uterine prolapse OMIM:123700
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Bifid uvula, Inguinal hernia, Cryptorchidism OMIM:613458
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo... ORPHA:1876
Gitelman Syndrome
Focal segmental glomerulosclerosis, Type I diabetes mellitus, Enuresis, Graves disease, Nocturia,... ORPHA:358
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Secundum atrial septal defect, Thrombocytopenia OMIM:620072
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Birth length greater than 97th percentile, Large for gestational age, ... OMIM:300868
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Eczematoid dermatitis, Keratitis, Failure to thrive, Episcleritis, Cryptorchidism, H... ORPHA:2273
Primrose Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hip contracture, Knee flexion contracture, Hypothyroidi... OMIM:259050
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Paroxysmal Nocturnal Hemoglobinuria
Esophageal spasms, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal ery... ORPHA:447
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Pachydermoperiostosis
Peptic ulcer, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Anemia, Seborrheic dermatitis, ... ORPHA:2796
Atelosteogenesis, Type Ii
Cleft palate, Pulmonary hypoplasia OMIM:256050
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Isolated Biliary Atresia
Periportal fibrosis, Small for gestational age, Failure to thrive, Hypopituitarism, Atretic gallb... ORPHA:30391
African Trypanosomiasis
Hepatosplenomegaly, Weight loss, Hepatomegaly, Jaundice, Urinary incontinence, Renal insufficienc... ORPHA:3385
Sotos Syndrome
Renal agenesis, Decreased fertility, Cryptorchidism, Phimosis, Renal insufficiency, Hydronephrosi... ORPHA:821
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Yunis-Varon Syndrome
High, narrow palate, Clitoral hypertrophy, Renal artery stenosis, Cryptorchidism, Glossoptosis, S... ORPHA:3472
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Thrombocytopenia, He... OMIM:301072
Autosomal Recessive Faciodigitogenital Syndrome
High palate, Shawl scrotum ORPHA:1974
Coffin-Siris Syndrome 12
Failure to thrive, Velopharyngeal insufficiency, Horseshoe kidney, Cryptorchidism, Submucous clef... OMIM:619325
Aspartylglucosaminuria
Aspartylglucosaminuria, Splenomegaly, Arthritis, Hepatomegaly, Macroglossia, Macroorchidism, Chro... ORPHA:93
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Overgrowth, Micropenis, High palate, Disproportionate t... ORPHA:457359
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Atelis Syndrome 2
Gastroesophageal reflux, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, High palate, P... OMIM:620185
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Clitoral hypertrophy, Long penis, Horseshoe kidney, Elbow flexion cont... OMIM:268300
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Spondyloenchondrodysplasia
Chronic kidney disease, Decreased response to growth hormone stimulation test, Hematuria, Protein... ORPHA:1855
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Increased stool u... ORPHA:79277
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating thyroid-stimulating hormone concentration, Decreased circu... ORPHA:94086
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hematemesis, Thrombocytopenia... ORPHA:319251
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia ORPHA:71212
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Hematemesi... ORPHA:274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Severe B lymphocytopenia, Inflammatory abnormality of the ... OMIM:102700
Glycogen Storage Disease Vii
Hematuria, Cholelithiasis, Exercise-induced myoglobinuria OMIM:232800
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ... OMIM:619418
Witteveen-Kolk Syndrome
High, narrow palate, Male urethral meatus stenosis, Microphallus, Decreased response to growth ho... OMIM:613406
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Pancre... ORPHA:99885
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Cleft palate, Pulmonary hypoplasia OMIM:312150
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Cigarette-paper scars, Uterine rupture, Umbilical hernia, Cystocele, Cryptor... ORPHA:286
Wrinkly Skin Syndrome
Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism, High palate OMIM:278250
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland, Velopharyngeal insufficiency OMIM:182290
Neuroblastoma
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:635
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Eisenmenger Syndrome
Bacterial endocarditis, Increased mean corpuscular volume, Brain abscess, Abnormal heart morpholo... ORPHA:97214
Wars2-Related Combined Oxidative Phosphorylation Defect
High palate, Cardiomyopathy, Dysphagia, Thrombocytopenia ORPHA:572798
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Enlarged tonsils, Hepatomegaly, Thrombocyt... ORPHA:2785
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Bifid scrotum, Supernumerary nipple, Recurrent otitis media... OMIM:235730
Tick-Borne Encephalitis
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Abnormal myoca... ORPHA:297
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Cirrhosis, Hepatomegaly,... ORPHA:779
Czeizel-Losonci Syndrome
Hypoplastic nipples, Tracheoesophageal fistula, Dextrocardia, High palate, Pulmonary hypoplasia ORPHA:2437
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Hypothyroidism, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Abnormal abdomen morphology, Failure to thrive, Bifid scrotum, Short uvula, ... OMIM:619475
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Cryptorchidism, Hepat... OMIM:619503
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, Leukocytosis, Thro... ORPHA:94093
Ciliary Dyskinesia, Primary, 1
Pneumonia, Male infertility, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otitis media,... OMIM:244400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Horseshoe kidney, Obesity, Vesicoureteral ... ORPHA:444077
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Camptodactyly of finger, Congenital hypothyroidism, Obesity, Cryptorchidism, Submuco... OMIM:607872
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Hyperphosphatur... OMIM:239200
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice, Pulmonary hypoplasia OMIM:231680
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Hypoplastic nipples, Atrial septal defect, Thrombocytopenia ORPHA:261323
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Bilateral breast hypoplasia, Primary amenorrhea ORPHA:319675
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency ORPHA:890
Menke-Hennekam Syndrome 1
Umbilical hernia, Inguinal hernia, Cryptorchidism, High palate, Flexion contracture, Cleft palate OMIM:618332
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Focal Dermal Hypoplasia
Anteriorly placed anus, Supernumerary nipple, Horseshoe kidney, Bifid ureter, Intestinal malrotat... OMIM:305600
Atelosteogenesis Type I
Pulmonary hypoplasia, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology ORPHA:1190
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Zimmermann-Laband Syndrome 1
Long penis, Splenomegaly, Nephrolithiasis, Hepatomegaly, High palate OMIM:135500
Combined Oxidative Phosphorylation Deficiency 55
Anemia, High palate, Thrombocytopenia OMIM:619743
Kawasaki Disease
Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal ... ORPHA:2331
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, ... OMIM:619381
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Failure to thrive, Splenomegaly, ... OMIM:613812
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Cleft palate, Pulmonary hypoplasia OMIM:253290
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Pleural effusio... ORPHA:340
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Renal insufficiency, Mild proteinuria OMIM:619147
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Short uvula, High palate, Cleft palate, Pulmonary hypoplasia OMIM:614091
Aspartylglucosaminuria
Macroorchidism, Aspartylglucosaminuria OMIM:208400
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Keratitis, Eczematoid dermatitis, Renal ... OMIM:308205
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:36412
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Abdominal situs inversus, Chronic sinusitis, Male infertility OMIM:619607
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d... OMIM:263520
Wild Type Attr Amyloidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria ORPHA:330001
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:91138
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Narrow palate, Abnormality of the urinary system, Failure to thrive, Recurrent urinary... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Narrow palate, Abnormality of the urinary system, Failure to thrive, Recurrent urinary... ORPHA:353277
Leptospirosis
Hepatitis, Pulmonary hemorrhage, Pleural effusion, Elevated serum transaminases during infections... ORPHA:509
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... ORPHA:512
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Compensated hypothyroidism, Glomerular sclerosis ORPHA:247691
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Renal agenesis, Poste... OMIM:306955
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Meconium ileus, Exocrine pancreatic in... OMIM:219700
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect OMIM:617895
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Abnormal heart morphology, Megaloblastic anemia, Thrombocytopenia, Neutro... ORPHA:79282
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Abnormality of thyroid physiology, H... ORPHA:411629
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Shoulder flexion contracture, Failure to thrive, Elbow flexion contracture, Cry... OMIM:210710
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Hepat... ORPHA:171
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Branchiooculofacial Syndrome
Atypical scarring of skin, Supernumerary nipple, Elbow flexion contracture, Ectopic thymus tissue... OMIM:113620
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, External genital hypoplasia, Large for gestational a... ORPHA:96334
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... ORPHA:980
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic fibro... OMIM:208500
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Glycogen Storage Disease Xii
Hemoglobinuria, Cholelithiasis, Delayed puberty OMIM:611881
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Ventricular septal defect... ORPHA:1708
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Partial atrioventricular canal defect, Thrombocytopenia OMIM:620423
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Tetralogy of Fallot, Anomalous origin of left pulmo... ORPHA:99050
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Rena... ORPHA:805
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Elbow contracture, Cryptorchidism, Hydronephrosis, Omphalocele, Hypospadias, Cl... OMIM:304120
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Bcard Syndrome
Thrombocytopenia OMIM:612394
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Mosaic Trisomy 1
Ventricular septal defect, Hepatic agenesis, Pulmonary artery atresia, Cleft palate, Pulmonary hy... ORPHA:1692
Acrofacial Dysostosis, Cincinnati Type
Failure to thrive, Bilateral cryptorchidism, Cryptorchidism, Inguinal hernia, Decreased body weig... OMIM:616462
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Abnormality of the lymphatic ... ORPHA:487796
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,... ORPHA:958
Severe Congenital Nemaline Myopathy
Dysphagia, Pulmonary hypoplasia ORPHA:171430
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Pulmonary hypoplasia ORPHA:85166
Legionnaires Disease
Hematuria, Proteinuria, Renal insufficiency ORPHA:549
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis ORPHA:183
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem... ORPHA:79078
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Cholelithiasis OMIM:194380
Fibular Hemimelia
Abnormal heart morphology, Thrombocytopenia ORPHA:93323
Yellow Fever
Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Leukocytos... ORPHA:99829
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnormality of the kidne... ORPHA:91139
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Tetrasomy 5P
High palate, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... OMIM:232240
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Neoplasm of the gallbladder, Cholecystitis, Abnormal social behavior ORPHA:309271
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Transient neutropenia, Nep... ORPHA:500095
Majeed Syndrome
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:77297
Williams-Beuren Syndrome
Celiac disease, Rectal prolapse, Failure to thrive in infancy, Obesity, Early onset of sexual mat... OMIM:194050
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Joubert Syndrome 21
Dysphagia, Splenomegaly, Pulmonary hypoplasia OMIM:615636
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Microphthalmia, Syndromic 1
High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Hydroureter, Cryptorchidism... OMIM:309800
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Greenberg Dysplasia
Bone marrow hypocellularity, Abnormal lung lobation, Hepatosplenomegaly, Pancreatic islet-cell hy... OMIM:215140
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Macroglossia, Cardiomegaly, Enlarged kidney OMIM:261740
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, High palate, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:90062
Blau Syndrome
Nephropathy, Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Stage 5 chronic ... ORPHA:90340
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Recurrent respiratory ... ORPHA:99125
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:536
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:51
Xfe Progeroid Syndrome
Proteinuria, Premature ovarian insufficiency, Renal insufficiency OMIM:610965
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Transposition of the great arteries, Cleft palate, Ectopia cordis OMIM:313850
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia, Pulmonary hypoplasia OMIM:619351
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Abnormal cardiac septum morphology, Glossoptosis, Cleft palate, ... ORPHA:90652
Dpagt1-Cdg
Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary hypoplasia ORPHA:86309
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia OMIM:151210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria OMIM:201475
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Congenital Myopathy 17
High palate, Respiratory tract infection, Cleft palate, Pulmonary hypoplasia OMIM:618975
Viss Syndrome
Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Celiac... OMIM:619472
Yunis-Varon Syndrome
Absent nipple, Aspiration pneumonia, Failure to thrive in infancy, Cryptorchidism, Severe failure... OMIM:216340
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Mitral valve prolapse, High palate, Repeated pneumothoraces, Pulmonary hypoplasia ORPHA:536467
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Microcephaly-Micromelia Syndrome
Cleft palate, Pulmonary hypoplasia OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Stuve-Wiedemann Syndrome 1
Dysphagia, Smooth tongue, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Osteogenesis Imperfecta
Mitral valve prolapse, Intestinal obstruction, Abnormal endocardium morphology, Thrombocytopenia,... ORPHA:666
Neu-Laxova Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate, Pulmonary hypoplasia ORPHA:2671
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Pulmonary hypoplasia, Thyroid hypoplasia, Abnormal cardiac septum morphology, Single ventricle OMIM:308050
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Atelosteogenesis Type Ii
Pulmonary hypoplasia, Cleft palate, Bilateral cleft palate ORPHA:56304
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Atrial septal defect, Cleft palate, Pulmonary hypoplasia OMIM:616546
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Raine Syndrome
High palate, Protruding tongue, Cleft palate, Pulmonary hypoplasia OMIM:259775
Achondrogenesis, Type Ia
Protruding tongue, Pulmonary hypoplasia OMIM:200600
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis ORPHA:90068
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Exercise-Induced Malignant Hyperthermia
Hepatic failure, Decreased liver function, Thrombocytopenia ORPHA:466650
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Cholecystitis, Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Cholecystitis, Abnormal social behavior ORPHA:309263
Acrorenal-Mandibular Syndrome
Narrow palate, High palate, Absent nipple, Pulmonary hypoplasia OMIM:200980
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... ORPHA:91500
Restrictive Dermopathy
Microcolon, Submucous cleft hard palate, Aplasia/Hypoplastia of the eccrine sweat glands, Transpo... ORPHA:1662
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Pulmonary hypoplasia ORPHA:50945
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Relapsing Polychondritis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:728
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Childhood Absence Epilepsy
Urinary incontinence, Abnormal social behavior ORPHA:64280
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Niemann-Pick Disease Type C
Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splen... ORPHA:646
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Persistent cloaca, Pulmonary hypoplasia ORPHA:1112
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Uraciluria, Abnormal social behavior ORPHA:1675
Restrictive Dermopathy 1
Atrial septal defect, Submucous cleft hard palate, Pulmonary hypoplasia OMIM:275210
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
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, Pulmonary hypoplasia, Cleft palate, Ventricular septal defect 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
Lhcgrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter