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Gene: Fshr MGI:95583

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Gene Summary

Name:
follicle stimulating hormone receptor
Synonyms:
follicle-stimulating hormone receptor,  FSH-R,  Follitropin receptor

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
increased total body fat amount Fshrtm1(KOMP)Vlcg HOM Early adult 1.25×10-07
increased fasting circulating glucose level Fshrtm1(KOMP)Vlcg HOM Early adult 2.90×10-05
abnormal startle reflex Fshrtm1(KOMP)Vlcg HOM Early adult 9.45×10-05
decreased bone mineral density Fshrtm1(KOMP)Vlcg HOM Early adult 2.30×10-05
decreased bone mineral content Fshrtm1(KOMP)Vlcg HOM Early adult 1.98×10-11
decreased lean body mass Fshrtm1(KOMP)Vlcg HOM Early adult 8.46×10-08

Download data as:  TSV  XLS

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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 Fshr 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 Fshr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Increased circulating ... ORPHA:243
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Hyperinsuline... ORPHA:3085
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Complete Androgen Insensitivity Syndrome
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... ORPHA:99429
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
49,Xyyyy Syndrome
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm... ORPHA:99330
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Congenital Generalized Lipodystrophy
Adipose tissue loss, Proportionate tall stature, Hepatic steatosis, Hepatomegaly, Bone cyst, Larg... ORPHA:528
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal ... ORPHA:314478
Müllerian Aplasia And Hyperandrogenism
Short neck, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone l... ORPHA:247768
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Polyembryoma
Abnormal circulating gonadotropin concentration, Neoplasm of head and neck, Isosexual precocious ... ORPHA:180229
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... ORPHA:562
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypopla... ORPHA:2232
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... OMIM:305400
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tapered finger, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dy... ORPHA:1875
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Ataxia-Telangiectasia
Lymphopenia, Failure to thrive, Diabetes mellitus, Skeletal muscle atrophy, Polycystic ovaries, N... ORPHA:100
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Neutr... ORPHA:221008
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Micropenis, Brachyda... OMIM:615983
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia, Hydrocele testis, Slender long bone, Increased serum testoster... ORPHA:96181
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, ... ORPHA:465508
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Cryptorchidism, Obesity, Tapered finger OMIM:309585
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Rudiger Syndrome
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis, Short digit OMIM:268650
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Kyphosis, Shor... OMIM:301900
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, C... OMIM:246200
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Short neck, Tapered finger, Small hand, 2-3 toe syndactyly, Poly... ORPHA:284180
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Mic... ORPHA:2959
Estrogen Resistance
Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin, Hyperinsul... OMIM:615363
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Metrorrh... ORPHA:370348
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Seckel Syndrome 5
11 pairs of ribs, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Simplified gyral patte... OMIM:613823
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resist... OMIM:268020
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Increased circulating ... ORPHA:243
C Syndrome
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Hepatomegaly, ... OMIM:211750
Preeclampsia
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... ORPHA:275555
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scolio... OMIM:612847
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Small hand, Short foot, Truncal obesity, Hypogonadism, Failure to thrive, Decreas... ORPHA:261483
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Renal cyst OMIM:615987
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Decreased... ORPHA:157954
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... OMIM:262190
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Neoplasm of t... ORPHA:249
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Pancytopenia, Hypospadias, Abnormal finger flexion crease, San... OMIM:210600
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Accessory spleen, Small for gestational age, Diastasis recti, Elevated circulating l... OMIM:618419
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Hepatic steat... ORPHA:79084
Silver-Russell Syndrome
Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Failure to thrive in ... ORPHA:813
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Neutr... ORPHA:221016
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Distal Deletion 10P
Hypoplasia of penis, Short neck, Joint stiffness, Cryptorchidism, Polycystic ovaries, Clinodactyl... ORPHA:1580
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ... ORPHA:79083
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Metatarsus adductus, Cryptorchi... OMIM:214110
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... OMIM:269700
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Splenomegaly, Dry skin, Decreased serum zinc, Hypogonadism, Peri... OMIM:201100
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... OMIM:608594
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ... ORPHA:1227
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Abn... ORPHA:2298
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy, Ulnar radial head dislocation OMIM:264270
Bardet-Biedl Syndrome 6
Vaginal atresia, Diabetes mellitus, Hypospadias, External genital hypoplasia OMIM:605231
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Perit... ORPHA:400
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism, Polyd... OMIM:615982
Werner Syndrome
Skeletal muscle atrophy, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neo... ORPHA:902
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Increased circulating g... ORPHA:785
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Satoyoshi Syndrome
Hyperlordosis, Nephrogenic diabetes insipidus, Tapered finger, Abnormality of the humerus, Genu v... ORPHA:3130
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious puberty, Hypothyroidism, Insuli... ORPHA:769
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Obesity, Decreased fertility, Hypogonadism, Abnormal met... ORPHA:2233
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Bardet-Biedl Syndrome 16
External genital hypoplasia, Obesity, Renal cyst, Polydactyly, Hypogonadism OMIM:615993
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, ... OMIM:158350
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Primary adrena... ORPHA:912
Mcdonough Syndrome
Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Perrault Syndrome 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis, T... OMIM:233400
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... ORPHA:85282
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Gastrointestinal he... ORPHA:440437
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Luscan-Lumish Syndrome
Overgrowth, Irregular menstruation, Obesity, Polycystic ovaries OMIM:616831
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hydrocele t... OMIM:615109
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Elevated circulating creatine kinase concentration, Increa... ORPHA:264580
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... ORPHA:649929
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
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gla... ORPHA:2234
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... ORPHA:280365
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Breast carcinoma, Hydrocele testis, Ovarian cyst, Hamarto... OMIM:615108
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Large hands, Neoplasm of the nervous system, Decreased body ... ORPHA:1672
Renpenning Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Hypospadias, Cachexia, Joint stiffness, Abnormal thum... ORPHA:3242
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Cachexia, Short ne... ORPHA:85293
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Diabetes ins... ORPHA:97229
Aromatase Deficiency
Osteopenia, Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Meier-Gorlin Syndrome 1
Flexion contracture, Hemivertebrae, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, ... OMIM:224690
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short neck, Obesity, Azoospermia, Abnormality of the hypothalamus... ORPHA:2183
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Micronodular... OMIM:606003
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Solitary Fibrous Tumor
Vaginal neoplasm, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the n... ORPHA:2126
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Obesity, Postaxial foot... OMIM:209900
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Maffucci Syndrome
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... ORPHA:163634
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... OMIM:300148
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... ORPHA:83469
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating c... ORPHA:79240
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Skeletal muscle atrophy, Sh... ORPHA:110
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... ORPHA:157798
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Recurrent fractures, Camptodactyly of finger, Short neck, Cr... ORPHA:3409
48,Xxyy Syndrome
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ulnar deviation of the hand, Hypospadias, Rocker b... OMIM:214100
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... ORPHA:2975
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Micropenis, Infertility ORPHA:261524
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Hypoplastic ili... ORPHA:85201
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur... ORPHA:398079
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... ORPHA:65759
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Flexi... OMIM:615547
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Cryptorchidism, Pancreatic lympha... ORPHA:1655
Meier-Gorlin Syndrome 3
Absent sternal ossification, Small scrotum, Hypospadias, Aplasia/Hypoplasia of the patella, Crypt... OMIM:613803
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98754
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Seckel Syndrome 7
Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus,... OMIM:614851
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Short ne... ORPHA:2176
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Small hand, Short foot, Truncal ob... ORPHA:3459
Short Syndrome
Joint laxity, Enlarged epiphyses, Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestatio... OMIM:269880
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Mic... ORPHA:335
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Distal lower limb amyotrophy, Hypospadias, Sandal gap, Cryptorchidism, Kyphosis, Sm... OMIM:300354
Bardet-Biedl Syndrome 7
Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly OMIM:615984
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98793
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177904
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Foot dorsiflexor weakness, Hypergonadotropic hypogonadism, Hypogonadotropi... ORPHA:298
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177901
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand, Obesity, Short foot, Abno... ORPHA:177910
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Pachygyria, Intrahepatic biliary dysgenesis, Hepatomeg... OMIM:614866
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Myelodysplasia, Thrombocytopenia, Hypoplasia of the u... OMIM:619151
Pituitary Gigantism
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... ORPHA:99725
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Han... ORPHA:2377
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Decreased muscle ma... ORPHA:3041
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Bent Bone Dysplasia Syndrome 1
Bent long bone, Hypoplastic pubic bone, Hepatosplenomegaly, Decreased calvarial ossification, Sho... OMIM:614592
Aica-Ribosiduria
Fused labia minora, Clitoral hypertrophy ORPHA:250977
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Laryngeal carcinoma, Ovotestis, C... OMIM:610644
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidi... OMIM:618820
Meier-Gorlin Syndrome 7
Joint laxity, 2-4 finger syndactyly, Hypospadias, Craniosynostosis, Sagittal craniosynostosis, Bo... OMIM:617063
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Seckel Syndrome 9
Small for gestational age, Congenital diaphragmatic hernia, Agonadism, Simplified gyral pattern, ... OMIM:616777
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... OMIM:176270
Meningioma
Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo... ORPHA:2495
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bone... ORPHA:371428
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Obesity, Postaxial fo... OMIM:615981
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Robinow Syndrome
Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic... ORPHA:97360
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly, Hypogonadism OMIM:617119
Meier-Gorlin Syndrome 2
Clitoral hypertrophy, Patellar aplasia, Hypoplastic labia majora, Slender long bone, Labial hypop... OMIM:613800
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Reduced bone mineral density, Squamous cell carcinoma, Neutropenia, ... ORPHA:2909
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
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
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, E... ORPHA:2554
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Prolactinoma
Osteopenia, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fer... ORPHA:2965
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hepat... OMIM:151660
Wagr Syndrome
Cryptorchidism, Obesity, Scoliosis, Ambiguous genitalia, Displacement of the urethral meatus ORPHA:893
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Erythrokeratodermia Variabilis
Diabetes mellitus, Tapered finger, Erythema, Dry skin, Weight loss, Neoplasm of the skin, Abnorma... ORPHA:317
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Clark-Baraitser syndrome
Joint laxity, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm, Macroorchidi... OMIM:300602
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th finger, Abnormal dental e... ORPHA:96263
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, R... OMIM:150800
Oculocerebrofacial Syndrome, Kaufman Type
Failure to thrive, Arachnodactyly, Clitoral hypertrophy ORPHA:2707
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Cachex... ORPHA:217346
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... ORPHA:330015
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system ORPHA:2221
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Hyperparathyroidism, Short femur, Recurrent fractures, Metaphyseal s... OMIM:618188
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb... ORPHA:3455
Bardet-Biedl Syndrome 19
External genital hypoplasia, Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxia... OMIM:615996
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:739
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Short neck, Cryptorchidism, Small hand, Short foot, ... OMIM:300882
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Ost... OMIM:612462
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Small hand, Obesity, Short foot, Scolio... ORPHA:254531
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Satoyoshi Syndrome
Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalanges of the han... OMIM:600705
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Spinal canal ... OMIM:614613
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Osteoporosis, Pseudohypoparathyroidism, Obesity, Short m... OMIM:103580
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Clitoral hypertrophy, Fused labia minora OMIM:608688
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Astrocytom... ORPHA:79086
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Kyphoscoliosis, Short neck, Flexion contracture, Small hand, Obesity, Scoliosis... OMIM:300055
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Toe syndactyly, Small for gestational age, Septate vagina, Craniosynostosis, 4-5 to... OMIM:300707
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Scoliosis, Periventricular nodular h... OMIM:619737
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Gestational Choriocarcinoma
Metrorrhagia, Miscarriage, Choriocarcinoma, Neoplasm, Trophoblastic tumor ORPHA:99926
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Primary hyperparathyr... OMIM:239200
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... ORPHA:508
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Visceral angiomatosis, Ovarian neoplasm, Reduced bone mineral density, Exces... ORPHA:137608
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Hypospadias, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clitoral hypertrophy OMIM:616449
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Intestinal ble... OMIM:175200
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Chung-Jansen Syndrome
Tapered finger, Cryptorchidism, Obesity, Hip dysplasia, Clinodactyly of the 5th finger, Joint hyp... OMIM:617991
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
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Clitoral hypertrophy, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the... ORPHA:313855
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Failure to thrive, Abnormal mitochondrial shape, Clitoral hypertrophy ORPHA:543470
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase... ORPHA:398069
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Genu varum, Lo... OMIM:264090
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Thrombocytopenia, Hyp... OMIM:614857
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251636
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Developmental And Epileptic Encephalopathy 89
Omphalocele, Hypoplastic labia minora, Flexion contracture, Hypoplastic labia majora, Talipes equ... OMIM:619124
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... OMIM:618484
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... ORPHA:94089
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Cryptorchidism, Kyphos... OMIM:618393
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Large hands, Gonadal dysgenesis, Umbilical hernia, Broad thumb, Brachydactyly ORPHA:1770
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Frontotempo... ORPHA:275864
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Clino... OMIM:201000
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d... ORPHA:79474
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele tes... ORPHA:276280
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Cryptorchidism, Centrally... ORPHA:486815
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Megalencephaly
Short neck, Long penis, Genu valgum, Truncal obesity, Macroorchidism ORPHA:2477
Fanconi Anemia, Complementation Group S
Proximal placement of thumb, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Clinodactyly,... OMIM:617883
Trisomy 5P
Hypoplasia of penis, Obesity, Scoliosis, Abnormal metacarpal morphology ORPHA:1742
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity, Postaxial polydactyly OMIM:615985
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Shor... ORPHA:127
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Irregular vertebral endplates, Elevated circulating parathyroid hormone level, ... ORPHA:439822
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Obesity,... ORPHA:171839
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone, Horizontal ribs, Brachydactyly OMIM:615633
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology ORPHA:1548
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size ORPHA:85273
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Short metacarpal, Hypoplastic sacrum, Diabetes mellitus, Small for gestational age, R... OMIM:614813
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Proteus-Like Syndrome
Thymus hyperplasia, Exostoses, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ova... ORPHA:2969
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Cryptorchidism, Facial diplegi... OMIM:611890
Ring Chromosome 12 Syndrome
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Hypothyroidism, Breast hypo... ORPHA:1439
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, Calcinosis, Hepatomegaly, Short clavicles, Short distal phalanx ... OMIM:248370
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hepatic steatosis, Hypospadias, Sandal gap, Craniosynostosis... ORPHA:254346
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Prolonged neonatal jaundice, Kyphosis, Tapered finger OMIM:618512
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Pallor... ORPHA:91347
Partington Syndrome
Macroorchidism ORPHA:94083
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... ORPHA:99880
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morpholo... ORPHA:3404
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Perrault Syndrome 5
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:616138
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... OMIM:614736
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Sacral dimple, Failure to thrive, Hypospadias, Abnormal dental enamel ... ORPHA:2556
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Cardiomegaly, Abnormal finger m... ORPHA:3472
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... ORPHA:143
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Osteoporosis, Increased susceptibili... ORPHA:79259
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Acromicria, Small hand, Obesity, Short foot, Clinodactyly ORPHA:254525
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the v... ORPHA:744
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Fa... ORPHA:818
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ovoid vertebral bodies, Metatarsus adductus, Hypoplastic labia majora... OMIM:244450
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Disinhibition, Neuronal ... OMIM:600795
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Irregular menstruation, Uterine leiomyoma, Pulmonary arterial hypertens... OMIM:616482
Poems Syndrome
Sclerosis of hand bone, Sclerotic vertebral endplates, Polycythemia, Hypothyroidism, Sclerosis of... ORPHA:2905
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Obesity, Micropenis, D... OMIM:619185
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Ruvalcaba Syndrome
Short palm, Inguinal hernia, Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Short metata... OMIM:180870
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Limited elbow movement, Short neck, Proximal plac... OMIM:261540
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Angina pectoris, Visceral angiomatosis, Lymphoma, Telangiectasia,... ORPHA:109
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Decreased HDL cholesterol concentration, Primary testicular failu... ORPHA:85450
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... OMIM:309801
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture OMIM:608540
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Chromosome 17Q12 Deletion Syndrome
Short palm, Long toe, Multicystic kidney dysplasia, Cryptorchidism, Long fingers, Upper limb unde... OMIM:614527
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Cryptorchidism, ... ORPHA:3380
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Shortening of a... ORPHA:79320
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Lynch Syndrome
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... ORPHA:144
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cutaneous finger syndacty... OMIM:101200
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Cryptorchidism, Kyphosis, Reduced bone mineral density, Hyperhidrosis, Vertebral seg... ORPHA:2617
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm ... ORPHA:543
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Obesity... ORPHA:464288
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Cryptorchidism, Kyphosis, Congenital contracture, Joi... ORPHA:352490
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... ORPHA:90790
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... ORPHA:280679
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hyp... OMIM:615381
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Brain neoplasm, Decreased response to growth hormone stimulation test, N... ORPHA:273
Intellectual Developmental Disorder, X-Linked 12
Joint laxity, Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality o... OMIM:300957
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Short ne... ORPHA:800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity, Kyphoscoliosis ORPHA:3077
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe OMIM:229230
Ollier Disease
Chondrosarcoma, Micromelia, Joint stiffness, Precocious puberty, Visceral angiomatosis, Osteolysi... ORPHA:296
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Short neck, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal... ORPHA:495875
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Hip dysplasia, Camptoda... ORPHA:412035
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Osteoporo... ORPHA:48431
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... OMIM:188400
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... ORPHA:1018
Scholte Syndrome
Micropenis, Decreased testicular size OMIM:300977
Genitopatellar Syndrome
Small scrotum, Congenital hip dislocation, Knee flexion contracture, Micropenis, Pachygyria, Shor... OMIM:606170
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size OMIM:601815
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Obesity, Scoliosis OMIM:618124
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Cryptorchidism, Short toe, Obesity, Widely spaced toes, Proportionate tall statur... ORPHA:404443
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... ORPHA:201
Diastrophic Dysplasia
Micromelia, Proximal placement of thumb, Abnormal form of the vertebral bodies, Symphalangism aff... ORPHA:628
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Senior-Loken Syndrome 9
Osteopenia, Hypoplasia of the femoral head, Obesity, Cholestasis, Polydactyly, Hypogonadism, Hepa... OMIM:616629
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, C... OMIM:605309
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the fibula... ORPHA:2141
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphal... ORPHA:284339
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Tapered finger, Cryptorchidism, Generalized joint laxity, Increased body weight, 2-3 toe syndacty... ORPHA:589905
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... ORPHA:2311
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, Mi... OMIM:243800
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Long... ORPHA:1988
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Cln3 Disease
Cerebellar atrophy, Aggressive behavior, Depression, Increased circulating androgen concentration... ORPHA:228346
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, Infertility, Scoliosis, Thoracic h... ORPHA:1445
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:614838
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... ORPHA:94090
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Aplasia... OMIM:219000
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Acute rhabdomyolys... OMIM:604168
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Elevated circulating c... OMIM:248800
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Absent th... OMIM:227645
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip pads, Clin... OMIM:135900
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive, Scoliosis ORPHA:293181
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Short palm, Broad hallux, Short neck, Precocious puberty, Cryptorchidism, Clino... OMIM:620073
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
Hemochromatosis, Type 3
Purpura, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr... OMIM:604250
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Weig... ORPHA:1333
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... OMIM:203800
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Gapo Syndrome
Dysmenorrhea, Abnormal form of the vertebral bodies, Oligozoospermia, Joint hyperflexibility, Abn... ORPHA:2067
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Morm Syndrome
Truncal obesity, Micropenis ORPHA:75858
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Congenital Myopathy 9A
Cryptorchidism, EMG: myopathic abnormalities, Obesity OMIM:618822
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Anemic... OMIM:227650
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Warburg Micro Syndrome 1
Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Perisylvian polymic... OMIM:600118
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Midface capillary hemangioma, ... OMIM:268300
Microsporidiosis
Brain abscess, Myositis, Osteomyelitis, Cholangitis, Cachexia, Abnormality of the spleen, Abnorma... ORPHA:2552
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Cryptorchidism, Short 1st metacarpal, Uterus didelphys, ... OMIM:164745
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... ORPHA:231632
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Elevated circulating thyroid-stimulating hormone concentration, Sh... OMIM:101800
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Scoliosis ORPHA:457260
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hand-Foot-Genital Syndrome
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... OMIM:140000
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Toe syndactyly, Hypoplasia of the radius, Bicornuate uterus, Labial hypoplasia, Clinodactyly of t... ORPHA:140952
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Type I diabetes mellitus, Anemia ORPHA:1192
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Absent th... OMIM:600901
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Scoliosis, Decreased body weight OMIM:300958
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size ORPHA:93950
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Osteoporosis, Truncal obesity, Hypogonadism, Clinodactyly of the 5th f... ORPHA:73272
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Abnormal vertebral morp... ORPHA:280195
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum OMIM:615433
Inherited Creutzfeldt-Jakob Disease
Depression, Central nervous system degeneration, Irritability, Astrocytosis, Senile plaques, Emot... ORPHA:282166
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Neoplasm of the nose, Enlarged polycystic ovaries, Biliary tract neopl... ORPHA:2869
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gest... ORPHA:77301
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Prune Belly Syndrome
Multicystic kidney dysplasia, Congenital hip dislocation, Cryptorchidism, Abnormal rib morphology... ORPHA:2970
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Precocious puberty, Coxa vara, Joint hyperflexibility, Truncal obesity, Narrow pelvis... ORPHA:2637
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Adrenocorticotropic hormone excess... ORPHA:100083
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Cryptor... ORPHA:3082
Mirage Syndrome
Adrenal hypoplasia, Leukopenia, Microphallus, Hyponatremia, Hypospadias, Myelodysplasia, Cryptorc... OMIM:617053
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Hemiverteb... ORPHA:672
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, D... ORPHA:3157
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine conce... OMIM:608104
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochr... ORPHA:653
Mckusick-Kaufman Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Cryptorchidism, Postaxial han... ORPHA:2473
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Decreased testicular size ORPHA:85279
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Bloom Syndrome
Adipose tissue loss, Neoplasm, Neoplasm of the breast, Male infertility, Decreased proportion of ... ORPHA:125
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Cryptorchidism, Sc... OMIM:619797
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:881
Basal Cell Nevus Syndrome 1
Rhabdomyoma, Hemivertebrae, Cardiac fibroma, Vertebral fusion, Odontogenic keratocysts of the jaw... OMIM:109400
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... OMIM:602271
Trisomy 13
Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic gi... ORPHA:3378
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Abnormal circulating glutamine concentra... ORPHA:101028
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Kyphosis, B... ORPHA:2047
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy, Scoliosis, Failur... OMIM:619518
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Upper limb muscle weakness, Scoliosis, Decreased serum testosterone... OMIM:609195
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Ulnar deviation of the hand, Limb j... OMIM:612079
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio... ORPHA:157973
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Verru... OMIM:193670
Lissencephaly, X-Linked, 2
Lissencephaly, Ambiguous genitalia, Micropenis, Pachygyria, Decreased testicular size OMIM:300215
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Cohen Syndrome
Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Tapered finger, Kyph... ORPHA:193
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
King-Denborough Syndrome
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n... OMIM:619542
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Scapular winging, Hyperlordosis, Microcy... OMIM:600462
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH le... OMIM:219090
Laron Syndrome
Hypoplasia of penis, Abnormality of the endocrine system, Osteoarthritis, Short toe, Hypohidrosis... ORPHA:633
Leopard Syndrome 1
Scapular winging, Hypospadias, Limited elbow movement, Short neck, Delayed menarche, Cryptorchidi... OMIM:151100
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Depression, Lateral ventricle dilatation, Ne... OMIM:615889
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Arachnodactyly, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, T... OMIM:301039
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Becker Nevus Syndrome
Hamartoma, Lipoatrophy, Supernumerary nipple, Micromelia, Kyphosis, Hypoplastic labia minora, Abn... ORPHA:64755
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Aredyld Syndrome
Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... ORPHA:1133
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism, Kyphoscoliosis ORPHA:447980
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Dilated third ventricle, Small hand, S... ORPHA:500055
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Flexion contracture, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Azote... OMIM:619321
Coccidioidomycosis
Abnormality of the spleen, Abnormal long bone morphology, Abnormality of the liver, Abnormality o... ORPHA:228123
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Fragile X Syndrome
Macroorchidism ORPHA:908
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Cachexia, Mediastinal lymphadenopathy, Splenomegaly, Arthri... ORPHA:3452
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly,... ORPHA:2072
Ruvalcaba Syndrome
Inguinal hernia, Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Crypto... ORPHA:3121
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Ne... ORPHA:84
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Decreased testicular size, Decreased response to growth hormone stimulation test ORPHA:457240
Invasive Mole
Menometrorrhagia ORPHA:99925
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Osteolysis, Generalized lipodystrophy,... ORPHA:90154
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Reduced bone mineral density, Genu valg... ORPHA:2983
Laurence-Moon Syndrome
Micropenis, Small scrotum, Polydactyly, Obesity OMIM:245800
Diabetic Embryopathy
Cryptorchidism, Abnormal sacrum morphology, Abnormality of the pancreas, Aplasia/Hypoplasia of th... ORPHA:1926
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Bardet-Biedl Syndrome 3
Brachydactyly, External genital hypoplasia, Postaxial polydactyly, Obesity OMIM:600151
Orofaciodigital Syndrome I
Syndactyly, Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cysts, Clinodactyly, Ovar... OMIM:311200
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Congenital diaphragmatic hernia, Short neck, Proximal placemen... ORPHA:251071
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexi... OMIM:618440
Smith-Magenis Syndrome
Toe syndactyly, Failure to thrive in infancy, Hypertriglyceridemia, Joint stiffness, Precocious p... ORPHA:819
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Hyperhid... ORPHA:2874
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic ... ORPHA:892
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Lig4 Syndrome
Pancytopenia, Small for gestational age, Myelodysplasia, Cryptorchidism, Acute lymphoblastic leuk... OMIM:606593
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Hypoplas... OMIM:601186
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Joint stiffness, Flexi... ORPHA:1979
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy... ORPHA:231226
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Small for gestational age, Abnormality of thyroid physiology, Kyphoscoli... ORPHA:59
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Elevated circulating creatine kinase concentration, Primary amenorrhea, Multiple... OMIM:617675
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Failure to thrive ... ORPHA:356961
Camptobrachydactyly
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... OMIM:114150
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Hypoplastic labia majora, Cam... OMIM:609128
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis ORPHA:204
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Anemia, Hamartomatous polyposis, Clubbing of fingers, Midclavicular ... ORPHA:79076
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Abnormal va... ORPHA:2123
Wagro Syndrome
Multiple exostoses, Hypoplastic female external genitalia, Obesity, Nephroblastoma, Decreased tes... OMIM:612469
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male ... ORPHA:2075
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant sk... ORPHA:904
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, I... ORPHA:85288
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes,... ORPHA:324575
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Fraser Syndrome
Omphalocele, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidn... ORPHA:2052
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Abnormal bone structure, Anemia ORPHA:46532
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Facial capillary hemangiom... OMIM:270400
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, External genital hypoplasia ORPHA:1867
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Abnormal circulating lipid concentration, Cryptorchidism, Cli... OMIM:616541
Placental Site Trophoblastic Tumor
Miscarriage, Metrorrhagia, Amenorrhea ORPHA:99928
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum morphology, Abnormal rib morphology, Abn... ORPHA:1797
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Dysphagia, Astrocytosis ORPHA:225154
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat... ORPHA:231214
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Radio-Tartaglia Syndrome
Tapered finger, Precocious puberty, Obesity, Gray matter heterotopia, Scoliosis, Hemangioma, Dry ... OMIM:619312
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, E... ORPHA:352447
Potocki-Shaffer Syndrome
Nephroblastoma, Delayed puberty, Micropenis, Decreased skull ossification, Hypothyroidism, Anemia... ORPHA:52022
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Distal amyotrophy, Hypogonadotropic hypogonadism OMIM:215470
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Inguinal hernia, Hypospadias, Dysmenorrhea, Small for gestational age,... ORPHA:397590
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies... OMIM:242900
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ... OMIM:617088
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Corneal scarring, Dry ski... OMIM:610965
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Absent th... OMIM:227646
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circ... ORPHA:276575
Alport Syndrome
Diffuse leiomyomatosis, Clitoral hypertrophy ORPHA:63
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryp... OMIM:617796
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hepatic steatosis, Osteoporosis, Increased susceptibility to fractures, In... ORPHA:189427
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Juvenile Dermatomyositis
Calcinosis, Myositis, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:93672
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Scoliosis, Delayed puberty, Erectil... ORPHA:649
Cockayne Syndrome Type 2
Hepatomegaly, Scarring, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Male hypogonadi... ORPHA:90322
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Anemia OMIM:620135
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Splenomegaly,... ORPHA:354
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... OMIM:255800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Long toe, Skeletal muscle atrophy, Lipodystrophy, Arachnodactyly, Kyphoscoliosis, Cry... ORPHA:75496
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck... OMIM:616801
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Kyphosis, Cryptorchidism, Abnormal sho... ORPHA:2115
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Alg9-Cdg
Short neck, Narrow greater sciatic notch, Abnormal bone ossification, Hepatomegaly, Rhizomelia, H... ORPHA:79328
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... ORPHA:2322
Optic Pathway Glioma
Precocious puberty, Neurofibroma ORPHA:2086
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... OMIM:615849
Kleefstra Syndrome 1
Hypospadias, Cryptorchidism, Obesity, Micropenis, Macroglossia, Talipes equinovarus, Tracheobronc... OMIM:610253
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Jaundi... OMIM:614231
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentrat... OMIM:617253
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Rahman Syndrome
Redundant skin, Kyphoscoliosis, Cryptorchidism, Talipes equinovarus, Camptodactyly OMIM:617537
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... ORPHA:169189
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Distal Triplication 15Q
Abnormal external genitalia, Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosi... ORPHA:314588
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Cachexi... ORPHA:824
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Hypospadias, Rhizomeli... OMIM:611209
Smith-Kingsmore Syndrome
Rhizomelia, Diastasis recti, Large for gestational age, Short proximal phalanx of finger, Cryptor... OMIM:616638
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... ORPHA:1078
Trichothiodystrophy 5, Nonphotosensitive
Micropenis, Panhypopituitarism, Decreased testicular size OMIM:300953
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Supernumerary nipple, Ro... OMIM:619951
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Failure to thrive, Cryptorchidism, Obesity,... ORPHA:96147
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... ORPHA:199299
Muir-Torre Syndrome
Endometrial carcinoma, Renal neoplasm, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
H Syndrome
Hallux valgus, Histiocytosis, Diabetes mellitus, Lipodystrophy, Recurrent fractures, Hypertriglyc... ORPHA:168569
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Ileal adenocarcinoma, Adrenocorticotropic ho... ORPHA:100079
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Pallor, Failure to thrive ORPHA:137675
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Premature ovarian insufficiency ORPHA:2928
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Pallor... ORPHA:276608
Wilson Disease
Back pain, Hepatomegaly, Acute hepatitis, Abnormality of the menstrual cycle, Thrombocytopenia, S... ORPHA:905
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Decreased circulating free fatty... ORPHA:276556
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Diabetes mellitus, Skeletal muscle... ORPHA:191
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Schinzel-Giedion Syndrome
Short neck, Renal cyst, Tibial bowing, Hepatoblastoma, Broad ribs, Micropenis, Myeloid leukemia, ... ORPHA:798
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly... OMIM:619471
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Facial hypotonia, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Abnormality of m... ORPHA:364028
Micro Syndrome
Hypoplasia of penis, Joint stiffness, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitora... ORPHA:2510
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Hypospadias, Tapered finger, Cryptorchidism, Short thumb, Hydrocele testis, Short foot... OMIM:619522
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Hemolytic anemia, Hepatomegaly, Portal hypertension, Osteo... OMIM:619487
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:610198
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... OMIM:601820
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Cryptorchidi... ORPHA:251066
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility, Genu valgum ORPHA:436141
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... ORPHA:1606
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age ORPHA:137634
Angelman Syndrome
Delayed menarche, Precocious puberty in females, Obesity, Scoliosis ORPHA:72
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... ORPHA:2616
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Short neck, Missin... OMIM:271520
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Inguinal hernia, True hermaphroditism, Abnormal labia morphology, Ambiguous genita... ORPHA:325345
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Tonne-Kalscheuer Syndrome
Cryptorchidism, Micropenis, Hypospadias, Decreased testicular size OMIM:300978
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion,... OMIM:194190
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Decreased hip abduction, Lumbar hyperlordosis, Camptodactyly of finger, Th... OMIM:114300
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Short neck, Aplasia of ... ORPHA:2879
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Distal Deletion 12Q
Short neck, Biliary atresia, Proportionate tall stature, Aplasia/Hypoplasia of the middle phalanx... ORPHA:96149
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Cryptorchidism, Limitation of joint mobil... ORPHA:261494
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness ORPHA:1216
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly OMIM:300577
Christianson Syndrome
Decreased muscle mass, Cachexia, Joint hyperflexibility, Arthrogryposis multiplex congenita, Addu... ORPHA:85278
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Aggressive behavior, Breast carcinoma, Melanoma, Inappropriate laughter, E... ORPHA:457212
Vacterl/Vater Association
Omphalocele, Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospa... ORPHA:887
Thymoma
Myositis, Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobi... ORPHA:99867
Basilicata-Akhtar Syndrome
Precocious puberty, Hemangioma, Short neck OMIM:301032
Narcolepsy Type 1
Obesity ORPHA:2073
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
7Q11.23 Microduplication Syndrome
Inguinal hernia, Sacral dimple, Hypospadias, Craniosynostosis, Congenital diaphragmatic hernia, S... ORPHA:96121
Microphthalmia, Syndromic 2
Hypospadias, Broad hallux, Septate vagina, Sandal gap, Cryptorchidism, Hypothyroidism, Flexion co... OMIM:300166
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the... OMIM:619269
Adenocarcinoma Of The Esophagus
Barrett esophagus, Esophageal carcinoma, Obesity, Lymphadenopathy, Clinodactyly of the 5th toe ORPHA:99976
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Astrocytosis OMIM:611087
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Supernumerary nipple, Short hallux, Truncal obesi... ORPHA:3224
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus OMIM:617805
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Redundant skin, Epispadias, Abnormal finger morphology, Symphalangis... ORPHA:2658
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Hypospadias, Small for gestational age, Rhizomelia, Short femur, Sa... OMIM:607143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Precocious puberty, Preaxial polydactyly, Obesity, Abnormality of neuronal migration ORPHA:163681
Crouzon Syndrome
Abnormality of the cervical spine, Dysgerminoma OMIM:123500
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Opitz Gbbb Syndrome
Omphalocele, Bifid scrotum, Inguinal hernia, Enlarged ovaries, Hypospadias, Congenital diaphragma... ORPHA:2745
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Abnormality of the pancre... ORPHA:2315
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis... OMIM:615761
Dyskeratosis Congenita
Abnormality of neutrophils, Hyperhidrosis, Neoplasm, Skin vesicle, Hepatomegaly, Osteoporosis, Sk... ORPHA:1775
Thrombocytopenia-Absent Radius Syndrome
Facial capillary hemangioma, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5t... OMIM:274000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Small for gestati... OMIM:616897
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossificatio... OMIM:618363
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Primary amenorrhea, Ectr... OMIM:147950
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Supernumerary... ORPHA:261349
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Short neck, Postaxial polydactyly, Hamartoma of tongue, Preax... OMIM:617925
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Bilateral cryptorchidism, Hyperhidrosis, Rib exostoses, Clinodactyly of the 5th finge... OMIM:150230
Alexander Disease Type I
Cachexia, Failure to thrive, Abnormal thalamic MRI signal intensity, Scoliosis ORPHA:363717
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Bardet-Biedl Syndrome 9
Truncal obesity, Irregular menstruation, Obesity OMIM:615986
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... ORPHA:90674
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Brain neoplasm, Temporal cortical atrophy, ... ORPHA:100070
Noonan Syndrome 8
Large for gestational age, Short neck, Cryptorchidism, Palmoplantar cutis laxa, Left ventricular ... OMIM:615355
Esophageal Atresia
Omphalocele, Barrett esophagus, Abnormal external genitalia, Small for gestational age, Maternal ... ORPHA:1199
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad hallux, Short neck, Increased body weight, 2-3 toe syndactyly, Short foot, Micropenis, Dry ... OMIM:300860
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Finger joint hypermobility, Mi... OMIM:244200
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Adrenoleukodystrophy
Primary adrenal insufficiency, Impotence, Hypogonadism, Neurodegeneration, Attention deficit hype... OMIM:300100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Hyperlordosis, Precocious puberty, Tapered finger, Hip dislocation,... OMIM:301066
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Hashimoto thyroiditis, Elevated circulating C-reactive protein ... ORPHA:49041
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger... OMIM:616738
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Arachnodactyly, Cachexia, Short neck, Elbow flexion contracture, Small hand, Kne... ORPHA:371364
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Marden-Walker Syndrome
Inguinal hernia, Decreased muscle mass, Hypospadias, Arachnodactyly, Short neck, Cryptorchidism, ... OMIM:248700
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Inguinal hernia, Brachydactyly, Femoral her... ORPHA:2588
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Inguinal hernia, Pancytopenia, Hypospadias, Petechiae, Cryptorchidism, Hemivertebrae,... OMIM:620331
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Abnormal dental enamel morphol... ORPHA:2916
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Perisylvian polymicrogyria, Micropenis, Decreased testicular size OMIM:615663
Bachmann-Bupp Syndrome
Focal polymicrogyria, Large for gestational age, Cryptorchidism, Hyperbilirubinemia, Clinodactyly... OMIM:619075
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Gray Platelet Syndrome
Myelodysplasia, Abnormality of the menstrual cycle ORPHA:721
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia ORPHA:71273
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... ORPHA:96182
Degcags Syndrome
Osteopenia, Leukopenia, Iron deficiency anemia, Pallor, Diaphragmatic eventration, Syndactyly, He... OMIM:619488
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Pallor, Triphalangeal thumb, Ne... ORPHA:124
Emanuel Syndrome
Inguinal hernia, Sacral dimple, Congenital hip dislocation, Torticollis, Congenital diaphragmatic... OMIM:609029
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Bainbridge-Ropers Syndrome
Death in infancy, Supernumerary nipple, Precocious puberty, Cryptorchidism, Disproportionate tall... OMIM:615485
Down Syndrome
Joint laxity, Sandal gap, Short neck, Abnormality of the lymphatic system, Decreased fertility, O... ORPHA:870
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Lymphadenopathy, Weight loss ORPHA:52416
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Fai... OMIM:613561
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchymosis, Leu... ORPHA:96253
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Gliosis, Neurodegeneration, Brain a... OMIM:214150
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Postaxial hand polydactyly, Obesity, Short finger, Broad thumb OMIM:300209
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... ORPHA:77297
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... ORPHA:177907
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol... OMIM:276820
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Redundant skin, Equinus calcaneus, Shoulde... ORPHA:536532
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Cachexia, Joint stiffness ORPHA:1144
Chops Syndrome
Cryptorchidism, Splenomegaly, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydac... OMIM:616368
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormality of the spleen... ORPHA:1834
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Chromosome 18P Deletion Syndrome
Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:146390
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Inguinal hernia, Small scrotum, Arachnodactyly, Camptodactyly of finger, Skele... ORPHA:2215
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... ORPHA:293967
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor ORPHA:79283
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis, Precocious puberty, Basal cell carcinoma, Overgrowth, Hemangioma OMIM:163200
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometro... ORPHA:849
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Obesity OMIM:620270
8P Inverted Duplication/Deletion Syndrome
Short neck, Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Scoliosis,... ORPHA:96092
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Arachnodactyly, Distal amyotrophy, Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes me... ORPHA:412057
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
22Q11.2 Deletion Syndrome
Short neck, Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Hypothyroidism, Hy... ORPHA:567
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Failure to thrive, Overgrowth, Large for gestational age ORPHA:261652
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Short neck, Absent thumb, Short thumb, Sho... OMIM:609053
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Lumbar scoliosis, Obesity, Primary amenorrhea ORPHA:319675
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... OMIM:612526
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... OMIM:251450
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Obesity, ... OMIM:618653
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... OMIM:212065
Acromegaly
Dysmenorrhea, Osteoarthritis, Wide penis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogo... ORPHA:963
Chand Syndrome
Short fifth metatarsal, Imperforate hymen, Dry skin, Hypohidrosis ORPHA:1401
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening... ORPHA:2788
Somatomammotropinoma
Dysmenorrhea, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogonadotropic h... ORPHA:314769
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Bresek Syndrome
Cryptorchidism, Decreased testicular size ORPHA:85284
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Noonan Syndrome 5
Cryptorchidism, Dry skin, Large for gestational age, Short neck OMIM:611553
Acute Peripheral Arterial Occlusion
Leukocytosis, Limb muscle weakness, Pallor ORPHA:90064
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia ORPHA:2930
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Cryptorchidism, Obesity, Hip dyspl... OMIM:616078
Trisomy 20P
Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchid... ORPHA:261318
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... ORPHA:2470
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Broad hallux, Facial hypotonia, Postaxial polydactyly, Hip dysplasia, Aplasia of... ORPHA:457284
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Hypospadias, Cryptorchidism, Kyph... OMIM:619718
Oeis Complex
Omphalocele, Absence of the sacrum, 11 pairs of ribs, Congenital hip dislocation, Bifid uterus, E... OMIM:258040
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia OMIM:211900
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Cryptorchidism, Kyphosi... OMIM:617602
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti... ORPHA:3261
Pseudopseudohypoparathyroidism
Short metacarpal, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Short metatarsal, ... OMIM:612463
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Abnormal dental enamel morphology, Arachnodactyly, Cryptorchidism,... ORPHA:96169
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insu... ORPHA:75233
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Thyroid lymphangiectasia, Cryptor... OMIM:235255
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Splenomeg... OMIM:617913
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Hypoh... ORPHA:98813
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Retroperitoneal fib... ORPHA:35687
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Cryptorchidism, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, ... ORPHA:404440
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachex... ORPHA:42
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Pallor ORPHA:2786
Beckwith-Wiedemann Syndrome
Redundant skin, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Leiomyo... ORPHA:116
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis, Clinodactyly, ... OMIM:301040
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... OMIM:614172
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Polymicrogyria, Hypospadias OMIM:618874
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Infertility, Type ... ORPHA:96264
Sotos Syndrome
Joint laxity, Cryptorchidism, Long metacarpals, Increased body weight, Genu valgum, Long phalanx ... OMIM:117550
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, ... ORPHA:3042
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Abse... ORPHA:93111
Neurofibromatosis Type 1
Astrocytoma, Spinal neurofibroma, Precocious puberty, Cryptorchidism, Kyphosis, Abnormality of th... ORPHA:636
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... OMIM:603467
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Congenital hip dislocation, Increased T3/T4 ratio, Increa... OMIM:614450
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Kyphosis, Simplified gyral pattern, Dry skin, Dilated third ventricle OMIM:619244
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to... OMIM:604292
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micromelia, Proximal placement ... ORPHA:199
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cryptorchidism, Short toe, Gene... OMIM:139210
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebr... ORPHA:2522
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Recessive Dystrophic Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous melanoma, Mitten deformi... ORPHA:79409
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Toe syndactyly, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decrease... OMIM:129900
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism,... OMIM:608978
Cockayne Syndrome A
Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope... OMIM:216400
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Diastasis recti, Large for gestational age, Cryptorchidism, Hemangioma, Polymicrogyria ORPHA:457485
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh... ORPHA:1304
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ... ORPHA:507
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty... OMIM:619879
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Chronic Mucocutaneous Candidiasis
Dyspareunia, Abnormal vagina morphology ORPHA:1334
Adams-Oliver Syndrome 1
Toe syndactyly, Supernumerary nipple, Polymicrogyria, Talipes equinovarus, Pachygyria, Imperforat... OMIM:100300
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, 2-3 toe syndactyly, Facial diplegia, Bilat... OMIM:618186
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia ORPHA:93598
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive... OMIM:256040
Peters Plus Syndrome
Inguinal hernia, Sacral dimple, Hypospadias, Multicystic kidney dysplasia, Micromelia, Short neck... ORPHA:709
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis, Renal cyst, Cardiac... OMIM:191100
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Neopla... ORPHA:235
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal odontoid process morphology, Abnormal limb epiphysis morphology, Kyph... ORPHA:2976
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Micropenis, Polymicrogyria, Decreased testicular size OMIM:614222
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu... ORPHA:263455
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Hematochezi... ORPHA:157794
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Cryp... OMIM:612541
Cystinosis, Nephropathic
Skeletal muscle atrophy, Metaphyseal widening, Hypophosphatemic rickets, Male hypogonadism, Male ... OMIM:219800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell ... OMIM:620365
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Ring Chromosome 10 Syndrome
Sandal gap, Cachexia, Tapered finger, Short neck, Hypocalcemia ORPHA:1438
Noonan Syndrome 14
Scapular winging, Short neck, Cryptorchidism, Kyphosis, Dry skin, Hyperhidrosis, Clinodactyly, Ly... OMIM:619745
Limb-Mammary Syndrome
Syndactyly, Absent nipple, Toe syndactyly, 3-4 finger cutaneous syndactyly, Primary amenorrhea, H... ORPHA:69085
11Q22.2Q22.3 Microdeletion Syndrome
Small hand, Obesity, Short foot, Clinodactyly of the 5th finger, Hemangioma, Brachydactyly ORPHA:444002
9P13 Microdeletion Syndrome
External genital hypoplasia, Joint stiffness, Precocious puberty, Scoliosis, Clinodactyly of the ... ORPHA:324313
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Kyphosis, Increased femoral ant... OMIM:619005
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Aplasia/Hypoplasia of fingers, Weight loss ORPHA:141152
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia... ORPHA:37042
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Decreased skull oss... ORPHA:93325
Scleroderma, Familial Progressive
Calcinosis, Abnormal abdomen morphology OMIM:181750
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula OMIM:619318
Cockayne Syndrome Type 1
Hepatomegaly, Foot joint contracture, Scarring, Cryptorchidism, Hypohidrosis, Scoliosis, Increase... ORPHA:90321
Insulin Autoimmune Syndrome
Weight loss, Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Hyperinsulinemic hypoglyc... ORPHA:411593
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Cryptorchidism, Hypotrophy ... OMIM:610443
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Precocious puberty, Retinal hamartoma, Ependymoma, Gingival... OMIM:613254
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Lymphoma, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency ane... OMIM:212750
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Camptodactyly, Clinodactyly of the ... OMIM:619123
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Mult... OMIM:107480
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Hepatomegaly, Redundant neck skin, Rhizomelia, Micromelia, Short neck, Abn... ORPHA:1842
Bloom Syndrome
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, C... OMIM:210900
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus, Bruising susceptibility OMIM:606408
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Ob... ORPHA:79445
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lym... ORPHA:97289
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Alexander Disease
Diabetes mellitus, Hyperlordosis, Precocious puberty, Short neck, Kyphosis, Hyperhidrosis, Scolio... ORPHA:58
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... ORPHA:2774
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Toxic Epidermal Necrolysis
Thrombocytopenia, Erythema, Skin ulcer, Weight loss, Neutropenia, Abnormal vagina morphology, Pan... ORPHA:537
Microphthalmia, Lenz Type
Finger syndactyly, Hypospadias, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis,... ORPHA:568
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma OMIM:612591
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... OMIM:617052
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Pagod Syndrome
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Abnormality of the sp... ORPHA:991
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, Large for gest... OMIM:229850
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Ambiguous genitalia, Bowing of the long bon... ORPHA:140
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Puberty and gonadal disorders, Kyphosis, Hip d... ORPHA:464282
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Noonan Syndrome 4
Large for gestational age, Short neck, Cryptorchidism, Scoliosis, Thrombocytopenia OMIM:610733
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Clinodactyly o... OMIM:615873
Carpenter Syndrome 2
Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee flexion contracture, ... OMIM:614976
Ellis Van Creveld Syndrome
Failure to thrive, Hypospadias, Micromelia, Cryptorchidism, Capitate-hamate fusion, Epispadias, G... ORPHA:289
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Syndactyly, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Clinodactyly, Mesom... OMIM:616894
Attrv30M Amyloidosis
Impotence, Cardiomegaly, Weight loss ORPHA:85447
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral hypoplasia of pectoralis major muscle, Supernumerary nipple, Craniosynosto... ORPHA:1521
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Geni... OMIM:602450
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Delayed puberty, Micropenis, Decreased t... ORPHA:2326
Lynch Syndrome 8
Endometrial carcinoma OMIM:613244
Currarino Syndrome
Absence of the sacrum, Hemisacrum, Septate vagina, Perianal abscess, Presacral teratoma, Bifid sa... OMIM:176450
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, ... ORPHA:2789
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin... OMIM:108720
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Renal cyst, Neonatal ... OMIM:613390
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... ORPHA:93357
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... ORPHA:536471
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Abnormal circulating calcium concentration, Decreased fertility, Weight loss, Gonad... ORPHA:60025
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis OMIM:610455
Tetrasomy 12P
Joint hyperflexibility, Hypohidrosis, Cachexia, Short neck ORPHA:884
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Microtriplication 11Q24.1
Short neck, Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Obesit... ORPHA:289522
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Prominent protruding coccyx, Obesity, Abnormal sacral segmentation, Lipoma, Joint hypermobility ORPHA:480907
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Hyponatremia, Osteomalacia, Abnormal dental enamel morphology... ORPHA:534
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossif... OMIM:618392
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II diabetes melli... ORPHA:3191
3C Syndrome
Finger syndactyly, Inguinal hernia, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Short n... ORPHA:7
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98855
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Periventricular heterotopia, Cryptorchidism, Kyphosis, Hip dysplasia... ORPHA:261250
Peripheral Cone Dystrophy
Pallor OMIM:609021
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Ankle flexion contracture, Tapered fin... ORPHA:464311
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Micropenis, Agenesis of corpus callosum OMIM:264480
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Short neck, Cryptorchidism, Kyphosis, S... OMIM:130720
Rafiq Syndrome
Joint laxity, Short neck, Flexion contracture, Obesity, Cutis laxa, Truncal obesity, Clinodactyly... OMIM:614202
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Cerebral cort... OMIM:203700
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Miscarriage, Oligomenorrhea OMIM:613877
Vici Syndrome
Lymphopenia, Elevated circulating creatine kinase concentration, Decreased proportion of CD4-posi... OMIM:242840
Diaminopentanuria
Neurodegeneration OMIM:222350
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Left-to-right shunt, Endometriosis, Dysplastic corp... ORPHA:363444
Tetrasomy 9P
Myositis, Short neck, Biliary atresia, Clinodactyly of the 5th finger, Micropenis, Pachygyria, Am... ORPHA:3310
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Head titubation, Upper-limb joint contracture, Lower-limb join... ORPHA:300605
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... ORPHA:98863
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Ver... ORPHA:373
X-Linked Intellectual Disability, Snyder Type
Long toe, Decreased muscle mass, Hypospadias, Recurrent fractures, Kyphoscoliosis, Arachnodactyly... ORPHA:3063
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... ORPHA:280
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Tapered finger, Obesity, Congenital hypothyroidism ORPHA:352530
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lumbar hyperlordosis, Lipodystrophy, Elevated circula... OMIM:615980
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Small for... ORPHA:464306
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H... ORPHA:1507
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth... OMIM:216550
Optic Atrophy 1
Pallor OMIM:165500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat... OMIM:600175
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Papillary cystadenoma of the ... OMIM:180849
Kaposiform Lymphangiomatosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Papilloma, Ecchymosis, Abnormal... ORPHA:464329
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, External genital hypoplasia, Short neck, Large for gestational age, Flexion ... ORPHA:96334
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone lev... OMIM:603233
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Inguinal hernia, Tapered toe, Large for gestational age, Bilateral cryptorchidism,... ORPHA:544488
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis OMIM:614409
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Distal joint laxity, Kyphos... OMIM:616471
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Petechiae, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopat... ORPHA:520
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Ppoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Subcutaneous lipoma, Elevated circulating ... ORPHA:97278
Floating-Harbor Syndrome
Short neck, Renal cyst, Humeral pseudarthrosis, Dislocated radial head, Short metacarpal, Hypospa... ORPHA:2044
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Intermittent jaundice, Increased circulating ... ORPHA:97261
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Kyphosis, Scoliosis ORPHA:2429
Zimmermann-Laband Syndrome
Hallux valgus, Hepatomegaly, Abnormal external genitalia, Short neck, Splenomegaly, Gingival fibr... ORPHA:3473
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98853
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... ORPHA:3210
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Clubbing, Xerostomia, Hamartomatous polyposis, Clubbing of fingers, Hypokalemia, Hypoca... OMIM:175500
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Episodic hyperhidrosis, Weight loss, Pallor, Parag... ORPHA:94080
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Hernia, Decreased skull ossification, Partial absence of toe, Hepatomegal... ORPHA:955
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH co... OMIM:219080
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5t... OMIM:136140
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... OMIM:275000
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Pallor, Anemia ORPHA:75563
Huntington Disease
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Abnormal ... ORPHA:399
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Weight loss, Neoplasm, Menorrhagia ORPHA:168816
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Short neck, Asplenia, Ambiguous genitalia, femal... OMIM:249000
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Tuberculosis
Weight loss ORPHA:3389
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, Clinodact... OMIM:309580
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, H... ORPHA:95409
Summitt Syndrome
Syndactyly, Obesity, Craniosynostosis OMIM:272350
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Short neck, Absent radius, Bilateral talipes equinovarus, Bone ... OMIM:614083
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... ORPHA:98849
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility ORPHA:244
Dystonia 31
Abnormal posturing OMIM:619565
Glucagonoma
Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intermittent jaundice, Increased cir... ORPHA:97280
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... ORPHA:363958
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, M... ORPHA:847
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity ORPHA:329249
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... ORPHA:293978
6Q Terminal Deletion Syndrome
Joint laxity, Aplasia/Hypoplasia of the ribs, Hallux valgus, Hypospadias, Short neck, Phimosis, P... ORPHA:75857
Obesity And Hypopigmentation
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Hy... OMIM:616878
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Agenesis of corpus ... ORPHA:2059
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Cryptorchidism, Cigarette-paper scars, Cystocele, Foot acroosteolysis, Osteolyti... OMIM:130050
Neurodegeneration With Brain Iron Accumulation 6
Motor tics, Neurodegeneration, Compulsive behaviors, Depression OMIM:615643
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Spinal mus... OMIM:615290
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Cryptorchidism, Genu valgum, Overgrowth, Micropenis, Joint hypermobility OMIM:617798
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple ORPHA:1809
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Small for gestational age, Cryptor... OMIM:133540
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... OMIM:602535
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture,... OMIM:259050
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors... OMIM:617087
Reticular Dysgenesis
Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypop... ORPHA:33355
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Baralle-Macken Syndrome
Kyphosis, Obesity, Striae distensae, Tapered finger OMIM:619255
Pycnodysostosis
Decreased response to growth hormone stimulation test, Generalized osteosclerosis, Hypoplastic il... ORPHA:763
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... ORPHA:100024
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis ORPHA:702
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Ambiguous genitalia, Unilateral cryptorchidism, Congenital diaph... OMIM:618280
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Bifid uterus, Short neck, Cryp... OMIM:256520
Adnp Syndrome
Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morphology, Cryptorchidism,... ORPHA:404448
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Renal cyst, Dislocated radial head, Joint laxity, Hypospadias, Cryptorchi... OMIM:102500
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Renal cyst, Failure to thr... ORPHA:97362
Exstrophy-Epispadias Complex
Omphalocele, Bifid scrotum, Inguinal hernia, Bifid uterus, Epispadias, Cryptorchidism, Cystocele,... ORPHA:322
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Cryptorchidism, Kyphosis, Long fingers, Elevated 8(... ORPHA:401973
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration,... OMIM:607426
Waardenburg Syndrome, Type 1
Aplasia of the vagina, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Perlman Syndrome
Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypo... OMIM:267000
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc... OMIM:619924
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Failure to thrive OMIM:618237
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Crypto... ORPHA:33364
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno... ORPHA:93941
2Q37 Microdeletion Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Supernumerary ... ORPHA:1001
Idiopathic Bronchiectasis
Clubbing, Cachexia ORPHA:60033
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Bicornuate uterus, Agenesis of corpus callosum OMIM:222448
Alpha-Mannosidosis
Craniofacial hyperostosis, Inguinal hernia, Bowing of the long bones, Hepatomegaly, Short neck, K... ORPHA:61
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Bicornuate ut... OMIM:200980
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl... OMIM:210710
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... OMIM:618323
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Hyperhidrosis, Lymphaden... ORPHA:86893
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperca... ORPHA:29072
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Short thum... OMIM:268400
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Hypospadias, Abnormal cortical gyration, Bifid uterus, Preaxial ha... OMIM:236680
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Hallux valgus, Kyphoscoliosis, Cardiomegaly, Cryptorchidism, Kyphosis, Pineal cyst,... OMIM:300967
Fanconi Anemia, Complementation Group P
Pancytopenia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Squamous cell ... OMIM:613951
Desmosterolosis
Increased bone mineral density, Abnormal cortical gyration, Micromelia, Metatarsus adductus, Sple... ORPHA:35107
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Absence of subcut... ORPHA:740
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... OMIM:618658
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Sandal gap, Micromelia, Obesity, Genu valgum, Joint hyperflexibility, Umbilical h... ORPHA:1035
Aicardi Syndrome
Proximal placement of thumb, Hemivertebrae, Hepatoblastoma, Pachygyria, Dilated third ventricle, ... OMIM:304050
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Hemangioma, Tall stature, Abnormality of the menstrual cycle ORPHA:90308
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Short neck, Short thumb, Obesity, Limited sh... OMIM:618821
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity ORPHA:369873
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Decreased serum iron, Precocious puberty, Cryptorchidism, Abnormality o... ORPHA:438213
Ck Syndrome
Hyperlordosis, Pachygyria, Kyphosis, Abnormal digit morphology, Scoliosis, Abnormal cortical bone... OMIM:300831
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Clubbing of fingers,... OMIM:618982
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Scoliosis OMIM:616682
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Loeys-Dietz Syndrome
Striae distensae, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Atypical scarring of... ORPHA:60030
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Head titubation, Kyphosis, Knee flexion contracture, Rectovaginal fistula, Bilateral talipes equi... OMIM:619708
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... ORPHA:97287
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Mend Syndrome
Sacral dimple, Redundant neck skin, Broad hallux, Overlapping toe, Cryptorchidism, Kyphosis, Long... OMIM:300960
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Cachexia ORPHA:1389
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... OMIM:620076
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Kyp... ORPHA:15
White-Kernohan Syndrome
Joint laxity, Obesity, Hip dysplasia, Rectovaginal fistula, Hypothyroidism OMIM:619426
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... OMIM:277950
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Hypospadias, Broad hallux, Avascular necrosis of the capital femoral epiphysis, Cry... ORPHA:353281
Mowat-Wilson Syndrome
Bifid scrotum, Asplenia, Flexion contracture, Calcaneovalgus deformity, Webbed penis, Micropenis,... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Asplenia, Flexion contracture, Calcaneovalgus deformity, Webbed penis, Micropenis,... ORPHA:261537
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Elevated circulating creatine kinase concentration, Short neck, Spinal rig... ORPHA:75840
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... OMIM:613471
Familial Focal Epilepsy With Variable Foci
Polymicrogyria, Pallor ORPHA:98820
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Cardiomyopathy, Pontocerebellar atrophy, Reduced left ventricular ejection fraction... ORPHA:258
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Malakoplakia
Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Skin ulcer, Prostate neoplasm ORPHA:556
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Short neck, ... ORPHA:529962
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Irritability, Senile plaques, Glios... OMIM:601104
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Small for gestational age,... OMIM:557000
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Osteomalacia, Cryptorchidism,... OMIM:309000
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Cryptorchidism, Hypoplasia of the radius,... ORPHA:3412
Persistent Müllerian Duct Syndrome
Cryptorchidism, Inguinal hernia, Male pseudohermaphroditism ORPHA:2856
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Kyphosis... ORPHA:3344
Cloacal Exstrophy
Omphalocele, Hypoplasia of penis, Abnormal tibia morphology, Hemivertebrae, Hip dislocation, Abno... ORPHA:93929
Wolfram Syndrome
Diabetes mellitus, Joint stiffness, Abnormal mesentery morphology, Myopathy, Hypogonadism, Delaye... ORPHA:3463
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Disproportio... ORPHA:2058
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Failure to thrive, Facial myokymia OMIM:620007
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymp... OMIM:209950
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Inguinal hernia, Vertebral fusion, Sacral dimple, Decrea... OMIM:213980
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad hallux, Obesity, Scoliosis, Polysplenia, Clinodactyly of the 5th finger, Failure to thrive,... OMIM:610543
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Metatarsus a... OMIM:607872
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Short foot, Scoliosis OMIM:312750
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Obesity ORPHA:2206
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Bone-marrow foam cells, Hype... ORPHA:275761
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Inc... OMIM:617404
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi... OMIM:603909
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... ORPHA:276621
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta OMIM:617466
Retinitis Pigmentosa 51
Pallor, Polydactyly, Obesity OMIM:613464
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Obesity, Short phalanx of f... OMIM:600430
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, P... OMIM:620005
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hep... ORPHA:96168
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Abnormal circulating enzyme concentration or activity, Ce... ORPHA:391428
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Telangiectasia of the skin, Retinal telangiectasia, Neoplasm, Neurodegeneration ORPHA:438134
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Cdags Syndrome
Hypospadias, Sagittal craniosynostosis, Kyphosis, Rectovaginal fistula, Short ribs, Lambdoidal cr... OMIM:603116
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Anemia ORPHA:2598
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Aicardi Syndrome
Block vertebrae, Hiatus hernia, Precocious puberty, Missing ribs, Polymicrogyria, Rib fusion, Sma... ORPHA:50
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Broad distal phalanx of the toes, Cryptorchidi... OMIM:619194
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Dyskeratosis Congenita, Digenic
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Failure to thrive, Decreased... OMIM:620040
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the pha... OMIM:615630
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Familial Afibrinogenemia
Menometrorrhagia, Miscarriage ORPHA:98880
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased circulating free fatty acid level, Enlarged tonsils, Abnorma... ORPHA:293964
Insulinoma
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Fasting hyperinsulinemia,... ORPHA:97279
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Sandal gap, Small hand, In... OMIM:270450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Hyperlordosis, Precocious puberty, Short neck, Scoliosis, Macroorchidism, Hemangio... OMIM:619950
Clark-Baraitser Syndrome
Clinodactyly, Sandal gap, Obesity OMIM:617752
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... OMIM:300718
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Short neck, Cryptorchidism, Splenomegaly, Hepatos... OMIM:613563
Shox-Related Short Stature
Short neck, Obesity, Genu valgum, Short foot, Tibial bowing, Skeletal muscle hypertrophy, Forearm... ORPHA:314795
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Redundant skin, Kyphoscoliosis, Bilateral c... OMIM:617403
Trichodermodysplasia-Dental Alterations Syndrome
Hyperlordosis, Adenoma sebaceum, Abnormal hip bone morphology, Scoliosis, Neoplasm of the skin, A... ORPHA:3353
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused ... ORPHA:1724
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Short palm, Hepatomegaly, Hamartoma of tongue, Short toe, Short r... OMIM:269860
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Abnormality of the tonsils, Thrombocytopeni... ORPHA:47
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Micropenis, Vaginal dryness, Hypospadias, Supernumerary nipple OMIM:106260
Granulomatosis With Polyangiitis
Diabetes insipidus, Elevated circulating C-reactive protein concentration, Skin ulcer, Weight los... ORPHA:900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Obesity, Thin ... OMIM:618395
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Scoliosis, Cellulitis, Intestinal lymphangiectasia, Ascites, Hypo... OMIM:616843
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, ... OMIM:615834
Huntington Disease-Like 2
Weight loss ORPHA:98934
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Kyphoscoliosis, Abnormal toe morphology, Obesity, Muscular d... ORPHA:459033
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysphagia, Cerebral cortical atrophy OMIM:617672
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Portal hypertension, Jaundice, Astrocytosis, Prolonged prothrombin... ORPHA:309854
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Abnormal vertebral morphology, Portal hypertension, Abnor... ORPHA:284
Huntington Disease-Like 1
Abnormal shoulder morphology, Abnormal posturing, Weight loss ORPHA:157941
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss ORPHA:2023
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Abnormal tibia morpho... ORPHA:138
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... ORPHA:331206
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Wrinkly Skin Syndrome
Osteopenia, Inguinal hernia, Congenital hip dislocation, Scapular winging, Redundant skin, Hypopl... OMIM:278250
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Back pain, Abnormal curvature of the vertebral column, Micropenis, Hepatic steatos... OMIM:619475
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Flexion c... OMIM:601803
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Wei... ORPHA:85443
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Phimosis, Flexion contracture, Xerostomia, Erythema, Skin ulcer, Weight ... ORPHA:99921
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Perisylvian polymicrogyria, Small... OMIM:618443
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Hypothyroidism, Small hand, O... ORPHA:444077
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Clinodactyly, Tall stature OMIM:618089
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis, Increased body weight, Abdominal obesity OMIM:615954
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... ORPHA:2180
Faundes-Banka Syndrome
Premature thelarche, Cryptorchidism, Lumbar hemivertebrae, Delayed puberty, Failure to thrive OMIM:619376
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Cone-shaped epiphysis, Obesity OMIM:606772
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyses of the 2nd to... ORPHA:397973
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... ORPHA:857
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Orchitis, Abnormal sa... ORPHA:32960
X-Linked Creatine Transporter Deficiency
Joint hyperflexibility, Abnormal circulating creatine concentration, Redundant skin, Cachexia ORPHA:52503
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Arachnodactyly, Abnormal thumb morphology, Cryptorchidism, Limitation of joint m... ORPHA:2719
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... OMIM:234250
Marden-Walker Syndrome
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hypospadias, Ca... ORPHA:2461
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Pseudoachondroplasia
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyse... OMIM:177170
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Inguinal hernia, Overlapping fingers, Hypospadias, Overlapping toe, Kyphosis, ... ORPHA:464738
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... ORPHA:163979
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Large for gestational age, Hydrocele testis, Abnormal ilium morp... OMIM:614080
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Tapered finger, Coxa ... OMIM:303600
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Asplenia, Flexion contracture, Calcaneovalgus deformity, Webbed penis, Micropenis,... ORPHA:261552
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Polycythemia, Intrahepatic cholestasis, C... OMIM:606812
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Catel-Manzke Syndrome
Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Short neck, Cryptorc... OMIM:616145
Nephronophthisis 15
Obesity OMIM:614845
Tay-Sachs Disease
Skeletal muscle atrophy, Hip flexor weakness, Increased serum beta-hexosaminidase, Lower limb mus... ORPHA:845
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor, Failure to thrive ORPHA:99931
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal curvature of the vertebral column, Abnormality of the cervical spine, Joint laxity, Synd... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal curvature of the vertebral column, Abnormality of the cervical spine, Joint laxity, Synd... ORPHA:353277
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Subdural hemorrhage, Retinal hemorrhage, Astrocytosis, Cardiomyopa... ORPHA:90324
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Esophageal neoplasm, Clubbing of toes, Weight loss, Ascites ORPHA:2198
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Depression, Neurodegeneration, Compuls... OMIM:615157
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab... ORPHA:2635
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Petechiae, Elevated circulating C-reactive protein conce... ORPHA:90051
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Inguinal hernia, Short neck, Large for gestational age, Cryptorchidi... OMIM:607721
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Neopl... ORPHA:69077
Diamond-Blackfan Anemia 1
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Pallor, Triphalangeal thumb, Neut... OMIM:105650
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... OMIM:254090
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Fail... OMIM:618234
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... ORPHA:97685
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Short neck, Obesity, Femoral bowing,... ORPHA:2563
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... OMIM:619991
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... ORPHA:98850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinas... OMIM:606612
Pachydermoperiostosis
Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim... ORPHA:2796
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy OMIM:604360
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Dravet Syndrome
Limited knee extension, Pallor, Tibial torsion ORPHA:33069
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Neutropenia, Macroglossia, Platyspo... OMIM:208400
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Lymphad... ORPHA:1332
Immunodeficiency 61
Obesity OMIM:300310
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Infantile Krabbe Disease
Failure to thrive, Shoulder girdle muscle weakness, Cachexia ORPHA:206436
Sarcoidosis
Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi... ORPHA:797
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Increase... OMIM:615830
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Weight loss, Lymphadenopathy, Abnormal skeletal muscle morpholog... ORPHA:142
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Palpable purpura, Elevated circulati... ORPHA:48435
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures OMIM:304700
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr... ORPHA:558
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis,... ORPHA:1969
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Narrow greater sciati... OMIM:312870
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pallor, Neutrop... ORPHA:3260
Rhombencephalosynapsis
Fusion of the left and right thalami, Abnormality of the uterus ORPHA:59315
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... OMIM:269150
Isolated Epispadias
Anteriorly displaced urethral meatus, Epispadias, Abnormal pelvic girdle bone morphology, Bifid c... ORPHA:93928
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, ... OMIM:603457
Spontaneous Periodic Hypothermia
Pallor, Hyperhidrosis ORPHA:29822
Stickler Syndrome
Skeletal muscle atrophy, Arachnodactyly, Abnormal dental enamel morphology, Cachexia, Protrusio a... ORPHA:828
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... ORPHA:93360
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:616881
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity, Tapered finger ORPHA:85280
X-Linked Intellectual Disability, Hedera Type
Calcaneovalgus deformity, Obesity, Scoliosis, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Glioma, B-cell lymphoma, ... ORPHA:647
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Inguinal hernia, Large for gestational age, Broad 2nd toe, Dry skin, Hydrocele test... OMIM:280000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Sandal gap, Tapered finger, Obesity, Scoliosis, Clinodactyly of the 5th finger, Tall stature OMIM:618430
Bladder Exstrophy
Omphalocele, Inguinal hernia, Hypoplasia of penis, Epispadias, Abnormality of the clitoris, Umbil... ORPHA:93930
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Kyphosis, Splenomegaly, Flexion contractu... ORPHA:87876
Seckel Syndrome
Sandal gap, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Cone-shaped epiphysis,... ORPHA:808
Man1B1-Cdg
Short neck, Periventricular heterotopia, 2-3 toe syndactyly, Cutis laxa, Truncal obesity, Clinoda... ORPHA:397941
Renal Agenesis, Bilateral
Abnormal sacrum morphology, Abnormal morphology of female internal genitalia, Sirenomelia ORPHA:1848
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype... ORPHA:20
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Okamoto Syndrome
Omphalocele, Redundant neck skin, Bifid uterus, Splenomegaly, Hip dysplasia, Polydactyly, Scolios... ORPHA:2729
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem OMIM:612319
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Scoliosis, Short p... OMIM:182290
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Xerostomia, Depression, Agitation, Neurodege... ORPHA:803
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Neutropenia, Osteolys... ORPHA:47612
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... ORPHA:449395
Cdkl5-Deficiency Disorder
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis ORPHA:505652
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthri... ORPHA:93
Incontinentia Pigmenti
Scarring, Supernumerary nipple, Kyphoscoliosis, Eosinophilia, Leukocytosis, Erythema, Hemivertebr... OMIM:308300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic s... OMIM:613658
Behçet Disease
Myositis, Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Pancreatitis ORPHA:117
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Splenomegaly, Hypohidrosis, Hypogonadism, Arthrogryposis multiplex congenita ORPHA:163746
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Isaacs Syndrome
Hyperhidrosis, Calf muscle hypertrophy, Weight loss ORPHA:84142
Sotos Syndrome
Astrocytoma, Flexion contracture, Neoplasm, Hypothyroidism, Abnormal vertebral morphology, Joint ... ORPHA:821
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Large for g... ORPHA:457359
Autosomal Recessive Spastic Paraplegia Type 53
Joint hyperflexibility, Failure to thrive, Kyphosis, Upper limb hypertonia ORPHA:319199
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short neck, Obesity, Thoracic kyphosis, Overgrowth, Scoliosis OMIM:620250
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of the menstrual cycle, Genital hernia, Cystocele, Osteoarthritis, L... ORPHA:285
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Anemia OMIM:246450
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Osteolysis, Hyperhidrosis, Lymphadenopathy, Weight loss, Ne... ORPHA:391
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration, Reduced galactocerebrosidase activity OMIM:245200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... OMIM:613327
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Recurrent fractures, Abnormal dental enamel morphology, Craniosynostosis, Hypercalcem... ORPHA:251004
Desbuquois Dysplasia 2
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Monkey wrench femoral... OMIM:615777
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Slender finger, Short neck OMIM:613192
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Takayasu Arteritis
Skin ulcer, Hyperhidrosis, Weight loss, Arthritis, Anemia ORPHA:3287
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hallu... OMIM:194050
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... ORPHA:324737
Masa Syndrome
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis OMIM:303350
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Arthritis, ... OMIM:301074
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervou... OMIM:256600
6Q16 Microdeletion Syndrome
Obesity, Tapered finger ORPHA:171829
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Idiopathic Intracranial Hypertension
Back pain, Obesity ORPHA:238624
Ramon Syndrome
Enlarged labia minora, Kyphosis, Gingival fibromatosis, Scoliosis, Decreased body weight, Juvenil... OMIM:266270
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Cryptorchidism, Abnormal pe... ORPHA:93271
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Congenital Heart Block
Pallor, Hyperhidrosis ORPHA:60041
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Death in infancy ORPHA:1354
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Multiple renal cysts, Abnormality of the uterus, Abnormal fa... ORPHA:99776
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Elevated circulating cre... OMIM:300280
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Pallor, Thrombocytosis ORPHA:134
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... ORPHA:66661
Early Infantile Epileptic Encephalopathy
Precocious puberty, Pachygyria, Broad finger, Short finger, Umbilical hernia, Micropenis, Failure... ORPHA:1934
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Short humerus, Hepatomegaly, Abnormal mitochondrial shape, Hypospadias, S... ORPHA:17
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Obes... ORPHA:261197
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Weight loss... ORPHA:3163
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Weight loss, Central hypothyroi... ORPHA:514
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Vaginal neoplasm, Myelodysplasia, Rhabdomyosa... ORPHA:1052
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Weight loss, Knee flexion contracture, Distal amyotrophy, Skeletal myopa... ORPHA:3208
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Den Hoed-De Boer-Voisin Syndrome
Sandal gap, Overweight, Small hand, Obesity, 2-3 toe syndactyly, Short foot, Scoliosis, Decreased... OMIM:619229
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervous system, Agenesis... OMIM:616239
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Hypospadias, Increased mean platelet volume, Avascular n... OMIM:222470
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Kyphosis, Overgrowth, Nephroblastoma OMIM:618272
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemia, Overweight, Intrahepatic cho... ORPHA:69663
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis ORPHA:42642
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormal ... ORPHA:2273
Yunis-Varon Syndrome
Congenital hip dislocation, Redundant neck skin, Anterior concavity of thoracic vertebrae, Short ... OMIM:216340
African Trypanosomiasis
Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomega... ORPHA:3385
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Hypospadias, Kyphosis, Radial deviation of finger, Clinodactyly OMIM:609944
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Long hallux, Obesity, Tapered finger OMIM:619854
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thr... ORPHA:90045
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytopenia... ORPHA:508533
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Hypospadias, Myelody... OMIM:305000
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased total bilirubin ORPHA:890
Stevens-Johnson Syndrome
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Erythema, Weight loss, Pancreatitis, A... ORPHA:36426
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Erythema, Scoliosis, Dry skin ORPHA:816
Congenital-Onset Steinert Myotonic Dystrophy
Patent ductus arteriosus, Obesity, Scoliosis, Decreased body weight ORPHA:589821
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Abnormality of the menstrual cycle, ... ORPHA:906
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... OMIM:620306
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Cellul... ORPHA:3165
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Obesity, Joint hypermobility OMIM:620191
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Cholestatic liver disease, Acholic stools, Cirrhosis, Hepatocellular carci... ORPHA:65682
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly, Obesity, Hyperuricemia ORPHA:261222
Kabuki Syndrome 1
Hemolytic anemia, Congenital hip dislocation, Premature thelarche, Autoimmune thrombocytopenia, C... OMIM:147920
Lymphangioleiomyomatosis
Renal neoplasm, Retinal hamartoma, Renal angiomyolipoma, Abnormality of the lymphatic system, Abn... ORPHA:538
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni... ORPHA:449563
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, T lymphocytopenia, Lymph node hypo... OMIM:300755
Tolchin-Le Caignec Syndrome
Precocious puberty, Osteochondroma, Cardiac rhabdomyoma OMIM:618971
Hirschsprung Disease
Adducted thumb, Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter OMIM:188580
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
White-Sutton Syndrome
Joint laxity, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Obesity, Broad thumb... OMIM:616364
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Thanatophoric Dysplasia
Redundant skin, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Join... ORPHA:2655
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology, Epispadias, Inguinal hernia, Bifid clitoris OMIM:600057
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal creas... OMIM:108145
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Disproportionate t... OMIM:162300
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Ascites, Polycystic kidn... OMIM:608776
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Weight loss, Increased susceptibility to fractures ORPHA:216866
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Adiposis Dolorosa
Xerostomia, Obesity, Arthritis, Dry skin, Hypothyroidism ORPHA:36397
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Erythroid hypopl... OMIM:620072
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation OMIM:616307
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Neurodegeneration, Cerebral atrophy ORPHA:309246
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Obesity, Joint hypermobility OMIM:619056
Huntington Disease-Like 2
Weight loss OMIM:606438
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,... OMIM:603041
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A... OMIM:253000
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... ORPHA:137834
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ... OMIM:618291
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:617864
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity, Left ventricular hypertrophy, Anemia ORPHA:563
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Gray matter heterotopia, Hand polydactyly, Radial deviation of finger, Scol... OMIM:300337
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Purpura, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lym... ORPHA:33226
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal circulating enzyme concentration or activity, Abnormal erythrocyte enzyme ... ORPHA:100924
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis OMIM:128100
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Congenital hip dislocation, Hypospadias, Redundant skin, Cryptorchidism, Osteoar... ORPHA:286
Juvenile Huntington Disease
Weight loss ORPHA:248111
Crimean-Congo Hemorrhagic Fever
Stiff neck, Elevated circulating creatine kinase concentration, Hyperhidrosis, Leukopenia, Cholec... ORPHA:99827
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotr... ORPHA:171
Spondyloenchondrodysplasia
Enchondroma, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decreased response... ORPHA:1855
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dry skin ORPHA:220295
Hermansky-Pudlak Syndrome
Menometrorrhagia, Abnormal dental enamel morphology, Weight loss, Basal cell carcinoma, Squamous ... ORPHA:79430
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin ORPHA:90037
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Inguinal hernia, Osteoarthritis of the small joints of the hand, Arachnodactyly, Ca... ORPHA:284984
Orofaciodigital Syndrome Type 4
Monorchism, Primary adrenal insufficiency, Perineal fistula, Rectovaginal fistula, Absent testis,... ORPHA:2753
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis, Slender build, Tall stature OMIM:300676
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Short neck, Large for gestational age, Birth length greater than 9... OMIM:300868
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, ... ORPHA:77259
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... OMIM:300908
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f... OMIM:610199
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Joint hyperflexibility, Disproportionate tall stature, Shoulder disloca... ORPHA:2181
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Scoliosis, Finger joi... OMIM:618493
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking ... OMIM:230650
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by... ORPHA:33276
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Hand muscle weakness... ORPHA:98908
Myofibrillar Myopathy 10
Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos... OMIM:619040
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly... ORPHA:583
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Pallor, Lymphadenopathy ORPHA:3386
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Short neck, Kyph... ORPHA:171436
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:50251
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Abno... ORPHA:667
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking o... OMIM:253220
X-Linked Intellectual Disability, Stevenson Type
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature ORPHA:85325
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Aggressive behavior, Dilated cardiomyopathy, Cerebral atrophy, Irritability, Gliosis... OMIM:618321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Micropenis, Decreased testicular size, Type II lissencephaly OMIM:615287
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy, Aggressive behavior OMIM:300894
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... ORPHA:90041
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Preaxial hand polyda... ORPHA:3098
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Lymphoma, Pallor, Increased total bilirubin ORPHA:90036
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... OMIM:618019
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Familial Mediterranean Fever
Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Erythema, Lymphadenopathy, Arthritis, Ascite... ORPHA:342
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Joint stiffness, Hypoplastic i... ORPHA:1860
Branchiooculofacial Syndrome
Hypospadias, Facial palsy, Supernumerary nipple, Short neck, Hyperlordosis, Cryptorchidism, Kypho... OMIM:113620
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Kyphosis, Jaundi... OMIM:615512
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gall... ORPHA:349
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemic pallor, Single lineage... ORPHA:86839
Thymic Carcinoma
Neoplasm of the thymus, Hyperhidrosis, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hepatomegaly, Hypoplasia of the fe... OMIM:607014
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss, Hernia, Ascites ORPHA:26790
Zimmermann-Laband Syndrome 1
Hyperextensibility of the finger joints, Hepatomegaly, Splenomegaly, Long penis, Gingival fibroma... OMIM:135500
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Disseminated cutaneous warts, Weight loss, Abnormal lymphat... ORPHA:90362
Thanatophoric Dysplasia Type 2
Redundant skin, Micromelia, Kyphosis, Limitation of joint mobility, Abnormality of neuronal migra... ORPHA:93274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the t... OMIM:102700
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo... ORPHA:666
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Immunodeficiency 31C
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Diabetes me... OMIM:614162
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... ORPHA:94068
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Decre... OMIM:259440
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... ORPHA:100080
Rheumatic Fever
Arthritis, Erythema, Aplasia/Hypoplasia of the abdominal wall musculature, Pallor ORPHA:3099
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Tarsal synostosis, Abnormal dental enamel morphology, Aplastic clavicle, Kyphosis, C... ORPHA:85199
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Hyperactivity, Premature ovarian insufficiency, Glioma, Rhabdomyosar... OMIM:251260
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Phimosis, Flexion ... ORPHA:2908
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... OMIM:620351
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat c... OMIM:252605
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Central hypoth... ORPHA:95427
Wolfram Syndrome 2
Diabetes mellitus, Oligomenorrhea, Primary amenorrhea OMIM:604928
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... ORPHA:100075
Bullous Pemphigoid
Erythema, Diabetes mellitus, Weight loss ORPHA:703
Crisponi Syndrome
Death in infancy, Kyphosis, Hyperhidrosis, Hypohidrosis, Scoliosis ORPHA:1545
Mgat2-Cdg
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocr... ORPHA:79329
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:259450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestational age, Elevated circulating cr... ORPHA:26793
Cerebral Visual Impairment
Intracranial hemorrhage, Central nervous system degeneration, Ischemic stroke, Neurodegeneration,... ORPHA:447788
Wieacker-Wolff Syndrome
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, ... OMIM:314580
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... ORPHA:668
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal... ORPHA:85408
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial palsy, Short neck, Kyph... OMIM:301041
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Hypoplastic cervical vertebra... ORPHA:56304
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Xylt1-Cdg
Joint laxity, Hepatomegaly, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Shor... ORPHA:370930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... OMIM:618138
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Cor... ORPHA:2363
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... ORPHA:3454
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... ORPHA:544482
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Kyphosis, Erythema, Abnormal for... ORPHA:3219
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... ORPHA:100082
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hepatomegaly, Decreased HDL cholesterol... ORPHA:412
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperuricemia, Pallor, Hyperalaninemia, Hepatic steatosis, Neonatal hyperbilirubinemia ORPHA:348
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca ORPHA:1112
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Diastasis recti, Craniosynostosis, Limited wrist movement, Kyph... ORPHA:576
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Congestive heart failure, Mitral regurgitation, Aortic regurgitation OMIM:123700
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Lopes-Maciel-Rodan Syndrome
Short foot, Kyphosis, Small hand, Scoliosis OMIM:617435
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Abnormal liver sonograph... ORPHA:90003
Momo Syndrome
Short neck, Obesity, Large hands, Overgrowth, Short sternum OMIM:157980
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Renal Agenesis
Hypertension, Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Brachydactyly, Cachexia, Short palm ORPHA:3217
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Rat-Bite Fever
Back pain, Abdominal aseptic abscess, Lymphadenitis, Oligoarthritis, Tendonitis, Weight loss, Ane... ORPHA:31205
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... OMIM:607326
Atelosteogenesis Type I
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... ORPHA:1190
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... ORPHA:1858
Myelofibrosis
Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... OMIM:619377
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal dental enamel morphology, Grayish enamel, Short neck, Hyperlor... ORPHA:582
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration, Emotional lability, Disinhibition, Dysphagia OMIM:606159
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm ORPHA:238750
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Erythema, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Lymphocytosis ORPHA:139402
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, S... ORPHA:192
Sialidosis Type 1
Skeletal muscle atrophy, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis... ORPHA:812
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Stickler Syndrome, Type I
Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis... OMIM:108300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Obesity, Scoliosis ORPHA:98794
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Portal hypertension, Impulsivity, Cryptorc... OMIM:619503
Plummer-Vinson Syndrome
Iron deficiency anemia, Decreased circulating ferritin concentration, Pallor, Hypochromic microcy... ORPHA:54028
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Brachydactyly, Obesity, Tapered finger OMIM:619680
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Giant Cell Arteritis
Joint stiffness, Mediastinal lymphadenopathy, Skin ulcer, Hyperhidrosis, Weight loss, Arthritis, ... ORPHA:397
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Angelman Syndrome
Macroglossia, Obesity, Scoliosis OMIM:105830
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... ORPHA:521426
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Splenomegaly, Micr... OMIM:301072
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Obesity, Macroglossia, Clinodactyly of the 5th finger, Failure t... ORPHA:369950
White-Sutton Syndrome
Ventral hernia, Joint laxity, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia,... ORPHA:468678
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Recurrent fractures, Thrombocytopenia, Sple... OMIM:222700
Polymyositis
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... ORPHA:732
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Abnormal cortical gyration, Kyphosis, Long fingers, Co... OMIM:617527
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Polyarteritis Nodosa
Erythema, Skin ulcer, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po... OMIM:616959
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Focal Myositis
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh... ORPHA:48918
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Obesity, Camptodactyly of toe ORPHA:251038
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Short metacarpal, Brachydactyly, Redundant neck skin, Short neck, Short metatarsal... OMIM:617157
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, ... OMIM:611881
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity, Overgrowth, Tracheomalacia OMIM:620155
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Hyper... ORPHA:2479
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Generalized limb muscle atrophy, Distal amyotrophy, Scoliosis, Hypothalamic ... ORPHA:2822
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Spastic Paraplegia 53, Autosomal Recessive
Joint hyperflexibility, Lower limb hypertonia, Kyphosis, Upper limb hypertonia OMIM:614898
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphol... ORPHA:98907
Igg4-Related Aortitis
Low back pain, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Broad ribs, ... OMIM:613848
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... ORPHA:209902
Alternating Hemiplegia Of Childhood
Failure to thrive, Facial hypotonia, Pallor, Hyperhidrosis ORPHA:2131
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Kyphosis,... ORPHA:392
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Right-to-left shunt, Bicornuate uterus, Pulmonary arterial hypertension, Annular pan... OMIM:265380
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Atypical Rett Syndrome
Short foot, Kyphosis, Small hand, Scoliosis ORPHA:3095
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... OMIM:153670
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Increased skull ossification, Cr... OMIM:618476
Aicardi-Goutieres Syndrome 7
Hepatic steatosis, Hemolytic anemia, Generalized lymphadenopathy, Hepatomegaly, Pancytopenia, Thr... OMIM:615846
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Exostoses, Abnormal dental enamel morph... ORPHA:1798
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Ost... ORPHA:198
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... OMIM:603387
Sandifer Syndrome
Torticollis, Hiatus hernia, Abnormal posturing, Anemia, Decreased cervical spine mobility ORPHA:71272
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lower limb hypertonia, Dilated third ventricle, Obesity, Limb hypertonia OMIM:617296
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Cervical ribs ORPHA:77300
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Impulsivity, Cerebral atrophy, Neurodegeneration, Dysphagia, E... OMIM:610217
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Skin ulcer, Weight loss ORPHA:312
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Obesity, Brachydactyly OMIM:608624
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenomegal... OMIM:230500
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis ORPHA:79327
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... OMIM:607155
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Impulsivity, Depression, Neurodegener... OMIM:614298
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis ORPHA:86884
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuro... OMIM:256700
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia, Weight loss ORPHA:79242
Q Fever
Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepatitis, Weight loss, Hepatospleno... ORPHA:781
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Multiple System Atrophy 1, Susceptibility To
Anhidrosis, Orthostatic hypotension, Hypohidrosis, Impotence, Neurodegeneration OMIM:146500
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Hyperl... ORPHA:2020
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Hepatic arteriovenous malformation, Brain abscess, Juvenile gastrointes... ORPHA:2929
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis ORPHA:33577
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... OMIM:616914
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... OMIM:143095
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodacty... OMIM:617061
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Eosinophilia, Weight loss, Arthritis, Purpura ORPHA:183
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... OMIM:180300
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Joint stiffness, Thenar muscle atrophy, C... OMIM:607015
Jaberi-Elahi Syndrome
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Failure to thrive, Joi... OMIM:617988
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Weight loss, Abnormality of connective tissu... ORPHA:79128
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Recurrent fractures, ... OMIM:610915
Perry Syndrome
Weight loss ORPHA:178509
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, H... ORPHA:1005
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Apl... ORPHA:476126
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Short neck, Kyphosis, Splenomegaly, Flexion contracture, Split han... OMIM:309900
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Small intestine c... ORPHA:100078
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive prote... ORPHA:160
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone conce... OMIM:620185
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia ORPHA:79255
Systemic Capillary Leak Syndrome
Leukocytosis, Pancreatitis, Multiple myeloma, Weight loss ORPHA:188
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Simple Cryoglobulinemia
Viral hepatitis, Purpura, B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Arthritis, Ac... ORPHA:91139
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Weight loss ORPHA:411703
Shashi-Pena Syndrome
Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypert... OMIM:617190
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosynostosis,... OMIM:616294
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Cervical insufficiency, Mitra... ORPHA:287
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Yao Syndrome
Arthritis, Xerostomia, Weight loss OMIM:617321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Clubbing, Weight loss ORPHA:79127
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenom... ORPHA:729
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Cerebellar atrophy, Cutaneous telangiectasia, Neurodegeneration, Dys... OMIM:615919
Malignant Peritoneal Mesothelioma
Neoplasm, Peritonitis, Ascites, Weight loss ORPHA:168811
Nephroblastoma
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Weight loss, Neoplasm, Nephroblastoma ORPHA:654
Pyruvate Dehydrogenase E2 Deficiency
Abnormal circulating enzyme concentration or activity, Neurodegeneration ORPHA:79244
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive OMIM:615574
Marfanoid Habitus With Situs Inversus
Kyphosis, Disproportionate tall stature, Scoliosis OMIM:609008
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae ORPHA:64745
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Frank-Ter Haar Syndrome
Osteopenia, Short palm, Bowing of the long bones, Redundant neck skin, Anterior concavity of thor... OMIM:249420
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Limb hypertonia ORPHA:500180
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy ORPHA:478029
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... OMIM:602080
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Myocardial calcification, Hypoa... ORPHA:75565
Retinitis Pigmentosa 75
Pallor OMIM:617023
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Childhood Absence Epilepsy
Pallor ORPHA:64280
Primary Sjögren Syndrome
Vaginal dryness, Xerostomia, Thyroiditis, Parotitis ORPHA:289390
Dermatomyositis
Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, Erythema, Breast carcino... ORPHA:221
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Sandhoff Disease
Exaggerated startle response OMIM:268800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Truncal titubation, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight los... ORPHA:79078
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho... ORPHA:2050
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Pneumocystosis
Abnormal neutrophil count, Neoplasm, Weight loss ORPHA:723
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... OMIM:181000
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility, Neurodegeneration OMIM:214500
Congenital Tufting Enteropathy
Arthritis, Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Zttk Syndrome
Absent gallbladder, Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Rib fusion, S... OMIM:617140
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Death in early adulthood, Scoliosis ORPHA:79107
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Short ne... ORPHA:508488
Occipital Horn Syndrome
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... OMIM:304150
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity, Short palm, Prominent fingertip pads, Brachydactyly ORPHA:466950
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Acrodermatitis Enteropathica
Failure to thrive, Erythema, Skin ulcer, Weight loss, Dry skin ORPHA:37
Malt Lymphoma
B-cell lymphoma, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Hyperhidrosis, We... ORPHA:52417
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Hyperhidrosis, Weight loss, Chronic myeloge... ORPHA:71493
Glossopharyngeal Neuralgia
Schwannoma, Neoplasm, Abnormality of the cervical spine, Weight loss ORPHA:221098
Cap Polyposis
Weight loss ORPHA:160148
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Increased bone mineral... OMIM:119600
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l... ORPHA:100086
Perry Syndrome
Weight loss OMIM:168605
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Oromandibular Dystonia
Torticollis, Weight loss ORPHA:93958
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Joint laxity, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Duplicati... OMIM:612474
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Phonic tics, Depression, Neurodegeneration, Dysphagia, Global brain atrophy, Cereb... OMIM:234200
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Fatal Familial Insomnia
Hyperhidrosis, Weight loss OMIM:600072
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent protruding ... OMIM:300966
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Small hand, Obesity OMIM:614947
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Vaginal stricture, Vaginal dryness, Xerostomia ORPHA:95455
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis, Death in childhood OMIM:211530
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Riddle Syndrome
Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Erythema, Weig... ORPHA:420741
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Patent ductus arteriosus OMIM:619909
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Brachydactyly, Obesity, Short palm ORPHA:466943
Classic Homocystinuria
Hepatomegaly, Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu ... ORPHA:394
Nocardiosis
Brain abscess, Osteomyelitis, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss... ORPHA:31204
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... OMIM:211350
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal... ORPHA:2769
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... ORPHA:309031
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Scoliosis ORPHA:261190
Granulomatosis With Polyangiitis
Granulomatosis, Skin ulcer, Weight loss OMIM:608710
Hellp Syndrome
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body ... ORPHA:244242
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Disproportionat... OMIM:617011
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy ORPHA:88644
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,... ORPHA:677
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... OMIM:166220
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Monosomy 22Q13.3
Sacral dimple, Obesity, Hypohidrosis, Large hands, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:48652
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... ORPHA:2388
Gerstmann-Straussler Disease
Lower limb muscle weakness, Weight loss OMIM:137440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Pachygyria, Muscular dystrophy, Pallor, Polym... OMIM:253280
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Clubbing, Weight loss ORPHA:747
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Neoplasm, Increase... ORPHA:70591
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los... OMIM:164310
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Viss Syndrome
Generalized joint laxity, Hypothyroidism, Joint laxity, Long toe, Arachnodactyly, Scoliosis, Umbi... OMIM:619472
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... OMIM:259770
Goodpasture Syndrome
Pallor, Increased blood urea nitrogen, Anemia, Weight loss OMIM:233450
Loeys-Dietz Syndrome 3
Atrial fibrillation, Subarachnoid hemorrhage, Cystocele, Mitral regurgitation, Pulmonic stenosis,... OMIM:613795
Hereditary Late-Onset Parkinson Disease
Hypomimic face, Weight loss ORPHA:411602
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Anemia ORPHA:329971
Rett Syndrome, Congenital Variant
Kyphosis, Simplified gyral pattern, Talipes equinovarus, Scoliosis, Pachygyria OMIM:613454
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Retinitis Pigmentosa 74
Obesity OMIM:616562
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum OMIM:258850
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Reactive Arthritis
Osteomyelitis, Joint stiffness, Weight loss, Enthesitis, Arthritis ORPHA:29207
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Weight loss, Increased susceptibility to fractures, H... ORPHA:3337
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... OMIM:203500
1P21.3 Microdeletion Syndrome
Obesity, Joint hypermobility ORPHA:293948
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Lymphedema-Distichiasis Syndrome
Kyphosis, Patent ductus arteriosus OMIM:153400
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Cerebrocostomandibular Syndrome
Kyphosis, Multicystic kidney dysplasia, Death in infancy ORPHA:1393
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness ORPHA:171629
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor, Cardiomegaly ORPHA:99125
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115

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 Fshr

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 Fshr.

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

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
Fshrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Fshrtm371386(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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